Name	Gene(s)	Protein change	Condition(s)	Accession	GRCh37Chromosome	GRCh37Location	GRCh38Chromosome	GRCh38Location	VariationID	AlleleID(s)	dbSNP ID	Canonical SPDI	Variant type	Molecular consequence	Germline classification	Germline date last evaluated	Germline review status	Somatic clinical impact	Somatic clinical impact date last evaluated	Somatic clinical impact review status	Oncogenicity classification	Oncogenicity date last evaluated	Oncogenicity review status
NM_001277115.2(DNAH11):c.6547-963G>A	DNAH11		Primary ciliary dyskinesia 7	VCV003068449	7	21746354	7	21706736	3068449	2839546		NC_000007.14:21706735:G:A	single nucleotide variant	intron variant	Pathogenic	23-Jan-24	no assertion criteria provided						
NM_012381.4(ORC3):c.873+4A>G	ORC3		ORC3-related disorder	VCV003068448	6	88321970	6	87612252	3068448	3227780		NC_000006.12:87612251:A:G	single nucleotide variant	intron variant	Likely pathogenic	30-Aug-23	no assertion criteria provided						
Single allele	ADAM17|CPSF3|IAH1|LOC129933054		"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	VCV003068447			2	9444569 - 9551273	3068447	3227779			Deletion		Pathogenic		no assertion criteria provided						
NM_000051.4(ATM):c.8152-260G>A	ATM|C11orf65		Ataxia-telangiectasia syndrome	VCV003068446	11	108206312	11	108335585	3068446	3227778		NC_000011.10:108335584:G:A	single nucleotide variant	intron variant	Uncertain significance		no assertion criteria provided						
NM_012434.5(SLC17A5):c.467_525+125del	SLC17A5		"Sialic acid storage disease, severe infantile type"	VCV003068445	6	74351289 - 74351472	6	73641566 - 73641749	3068445	3227777			Deletion	splice donor variant	Likely pathogenic	4-Apr-24	no assertion criteria provided						
NM_007055.4(POLR3A):c.3429+51A>G	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	VCV003068444	10	79743627	10	77983869	3068444	3227776		NC_000010.11:77983868:T:C	single nucleotide variant	intron variant	Likely pathogenic	22-Feb-24	no assertion criteria provided						
NM_004181.5(UCHL1):c.366_367del (p.Lys123fs)	UCHL1	K123fs	"Spastic paraplegia 79A, autosomal dominant, with ataxia"	VCV003068443	4	41263769 - 41263770	4	41261752 - 41261753	3068443	3227775		NC_000004.12:41261751:AGAGA:AGA	Microsatellite	frameshift variant	Pathogenic	13-Jun-23	no assertion criteria provided						
NM_012381.4(ORC3):c.647T>A (p.Val216Asp)	ORC3	"V216D, V73D"	ORC3-related disorder	VCV003068442	6	88318881	6	87609163	3068442	3227774		NC_000006.12:87609162:T:A	single nucleotide variant	missense variant	Likely pathogenic	30-Aug-23	no assertion criteria provided						
NM_017654.4(SAMD9):c.1922T>G (p.Leu641Arg)	SAMD9	L641R	MIRAGE syndrome	VCV003068441	7	92733489	7	93104176	3068441	3227773		NC_000007.14:93104175:A:C	single nucleotide variant	missense variant	Likely pathogenic	19-Jan-23	no assertion criteria provided						
NM_003504.5(CDC45):c.204G>A (p.Gln68=)	CDC45		Meier-Gorlin syndrome 7	VCV003068440	22	19468568	22	19481045	3068440	3227772		NC_000022.11:19481044:G:A	single nucleotide variant	synonymous variant|non-coding transcript variant	Likely pathogenic	1-Mar-23	no assertion criteria provided						
Single allele	LOC129932589|LOC129932590|LOC129932591|NVL|MIR4742|CNIH4|LOC112577544|LOC129932585|LOC129932586|LOC129932587|LOC129932588|WDR26		Skraban-Deardorff syndrome	VCV003068439			1	224317411 - 224403138	3068439	3227771			Complex		Pathogenic	1-Aug-23	no assertion criteria provided						
NM_001244008.2(KIF1A):c.183+293_798+287del	KIF1A		"Intellectual disability, autosomal dominant 9"	VCV003068438	2	241722869 - 241728360	2	240783452 - 240788943	3068438	3227770			Deletion	splice acceptor variant|splice donor variant	Pathogenic	2-Feb-24	no assertion criteria provided						
NM_012481.5(IKZF3):c.229A>T (p.Met77Leu)	IKZF3|LOC130060781	"M43L, M77L"	not specified	VCV003068437	17	37949121	17	39792868	3068437	3227769		NC_000017.11:39792867:T:A	single nucleotide variant	missense variant|5 prime UTR variant|intron variant	Uncertain significance	2-Oct-23	"criteria provided, single submitter"						
Single allele	LOC130067533|LOC130067534|LOC130067535|LOC130067536|RANGAP1		Nephronophthisis-like nephropathy 1	VCV003068436			22	41274438 - 41288800	3068436	3227768			Deletion		Pathogenic	19-Feb-24	no assertion criteria provided						
NM_006012.2(CLPP):c.-995_270+222del	CLPP|LOC130063288		Perrault syndrome 3	VCV003068435	19	6360587 - 6362169	19	6360576 - 6362158	3068435	3227767			Deletion		Likely pathogenic	31-Jan-23	no assertion criteria provided						
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)	ACTA1	D27N	Actin accumulation myopathy	VCV003068434	1	229568784	1	229433037	3068434	2839515		NC_000001.11:229433036:C:T	single nucleotide variant	missense variant	Pathogenic	25-Oct-23	no assertion criteria provided						
NM_020546.3(ADCY2):c.1489T>A (p.Tyr497Asn)	ADCY2	Y497N	ADCY2-related disorder	VCV003068433	5	7709411	5	7709298	3068433	3227766		NC_000005.10:7709297:T:A	single nucleotide variant	missense variant	Uncertain significance	15-Dec-23	no assertion criteria provided						
NM_001394713.1(PERM1):c.2149+1062_2162del	AGRN|PERM1		Congenital myasthenic syndrome 8	VCV003068432	1	911992 - 913199	1	976612 - 977819	3068432	3227765			Deletion	splice acceptor variant|intron variant	Pathogenic	22-Feb-24	no assertion criteria provided						
NM_015459.5(ATL3):c.208C>T (p.Arg70Ter)	ATL3	"R52*, R70*"	"Neuropathy, hereditary sensory, type 1F"	VCV003068431	11	63426563	11	63659091	3068431	986025	rs775479502	NC_000011.10:63659090:G:A	single nucleotide variant	nonsense	Pathogenic	14-Sep-20	no assertion criteria provided						
NM_000360.4(TH):c.487+118G>A	TH		Autosomal recessive DOPA responsive dystonia	VCV003068430	11	2189603	11	2168373	3068430	3227764		NC_000011.10:2168372:C:T	single nucleotide variant	intron variant	Uncertain significance	29-Jan-24	no assertion criteria provided						
NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)	WFS1	A559D	not provided	VCV002734643	4	6303198	4	6301471	2734643	2839570		NC_000004.12:6301470:C:A	single nucleotide variant	missense variant	Likely pathogenic	13-Jun-23	"criteria provided, single submitter"						
NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)	VARS1	S864*	"Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	VCV002691776	6	31748853 - 31748855	6	31781076 - 31781078	2691776	2852798		NC_000006.12:31781075:GCT:TCA	Indel	nonsense	Likely pathogenic	10-Jul-23	no assertion criteria provided						
NM_006295.3(VARS1):c.3288G>T (p.Glu1096Asp)	VARS1	E1096D	"Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	VCV002691775	6	31747385	6	31779608	2691775	2852797		NC_000006.12:31779607:C:A	single nucleotide variant	missense variant	Uncertain significance	10-Jul-23	no assertion criteria provided						
NM_001383.6(DPH1):c.749+39G>A	DPH1		"Developmental delay with short stature, dysmorphic facial features, and sparse hair 1"	VCV002691774	17	1943156	17	2039862	2691774	2852796		NC_000017.11:2039861:G:A	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	1-Apr-24	no assertion criteria provided						
NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu)	CACNA1D	"F747L, F767L"	"Congenital disorder of glycosylation, type Iw, autosomal dominant"	VCV002691773	3	53764486	3	53730459	2691773	2852795		NC_000003.12:53730458:T:C	single nucleotide variant	missense variant	Pathogenic	17-Feb-23	no assertion criteria provided						
NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser)	STT3A	"N452S, N544S"	Inborn genetic diseases	VCV002691772	11	125484058	11	125614163	2691772	2852794		NC_000011.10:125614162:A:G	single nucleotide variant	missense variant	Uncertain significance	21-Feb-24	"criteria provided, single submitter"						
Single allele	DPRX|LOC126862930|ZNF331		ZNF331 deletion	VCV002691771			19	53568105 - 53617993	2691771	2852793			Deletion		Uncertain significance	31-Jan-23	no assertion criteria provided						
NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)	TTI1	H424R	Neurodevelopmental disorder with microcephaly and movement abnormalities	VCV002691770	20	36640948	20	38012546	2691770	2852792		NC_000020.11:38012545:T:C	single nucleotide variant	missense variant	Likely pathogenic	10-Aug-23	no assertion criteria provided						
NM_001303457.2(TTI1):c.629dup (p.Leu210fs)	TTI1	L210fs	Neurodevelopmental disorder with microcephaly and movement abnormalities	VCV002691769	20	36641589 - 36641590	20	38013187 - 38013188	2691769	2852791		NC_000020.11:38013187:AAAAAA:AAAAAAA	Duplication	frameshift variant	Uncertain significance	10-Aug-23	no assertion criteria provided						
Single allele	CPSF3|LOC105373418|LOC112841605|LOC129933057|LOC129933058|LOC129933059|LOC129933060|LOC129933061|LOC129933062|LOC129933063|LOC129933064|LOC129933065|LOC129933066|LOC129933067|LOC129933068|LOC129933069|LOC129933070|LOC129933071|LOC129933072|LOC129933073|LOC129933074|LOC129933075|LOC129933076|LOC129933077|YWHAQ		"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	VCV002691768			2	9584698 - 9798107	2691768	2852790			Deletion		Uncertain significance	28-Apr-23	no assertion criteria provided						
NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)	CPSF3	"R181Q, R218Q, R222Q, R79Q"	"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	VCV002691767	2	9576383	2	9436254	2691767	2852789		NC_000002.12:9436253:G:A	single nucleotide variant	missense variant	Uncertain significance	28-Apr-23	no assertion criteria provided						
NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)	ADCY5	"R1208C, R1233C, R858C"	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	VCV002691766	3	123005567	3	123286720	2691766	2852788		NC_000003.12:123286719:G:A	single nucleotide variant	missense variant	Likely pathogenic	13-Sep-23	no assertion criteria provided						
NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)	NOTCH1	F1693S	NOTCH1-related disorder	VCV002691765	9	139397723	9	136503271	2691765	2852787		NC_000009.12:136503270:A:G	single nucleotide variant	missense variant	Pathogenic	15-Aug-23	no assertion criteria provided						
NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)	AFG2B	G32D	Neurodevelopmental disorder with hearing loss and spasticity	VCV002691764	15	45694722	15	45402524	2691764	2852786		NC_000015.10:45402523:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	21-Dec-22	no assertion criteria provided						
NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)	KDR	G1092R	KDR-related disorder	VCV002691763	4	55955888	4	55089721	2691763	2852785		NC_000004.12:55089720:C:G	single nucleotide variant	missense variant	Uncertain significance	16-Jan-18	no assertion criteria provided						
NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)	RBM28	"V357fs, V498fs"	ANE syndrome	VCV002691762	7	127961389 - 127961390	7	128321336 - 128321337	2691762	2852784		NC_000007.14:128321336:CAGCC:CAGCCAGCC	Duplication	frameshift variant	Likely pathogenic	23-Sep-19	no assertion criteria provided						
NM_001220.5(CAMK2B):c.903G>A (p.Lys301=)	CAMK2B		"Intellectual disability, autosomal dominant 54"	VCV002691761	7	44281299	7	44241700	2691761	2852783		NC_000007.14:44241699:C:T	single nucleotide variant	synonymous variant	Uncertain significance	5-Sep-23	no assertion criteria provided						
NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)	EBF3	"P317L, P308L"	Inborn genetic diseases	VCV002599739	10	131665494	10	129867230	2599739	2767441		NC_000010.11:129867229:G:A	single nucleotide variant	missense variant	Likely benign	29-Jun-23	"criteria provided, single submitter"						
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)	PRDM16	L1048fs	Left ventricular noncompaction 8	VCV002582631	1	3342646	1	3426082	2582631	2750200		NC_000001.11:3426081:CC:C	Deletion	frameshift variant	Likely pathogenic	21-Feb-23	"criteria provided, single submitter"						
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)	VARS2	"C141Y, C281Y, C311Y"	Combined oxidative phosphorylation defect type 20	VCV002582541	6	30884970	6	30917193	2582541	2750111		NC_000006.12:30917192:G:A	single nucleotide variant	missense variant	Uncertain significance	25-May-23	"criteria provided, single submitter"						
NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)	KIF5B	T87I	KIF5B-related osteogenesis imperfecta syndrome	VCV002580234	10	32329340	10	32040412	2580234	2747775		NC_000010.11:32040411:G:A	single nucleotide variant	missense variant	Uncertain significance	25-Aug-21	no assertion criteria provided						
NM_005443.5(PAPSS1):c.286A>G (p.Asn96Asp)	PAPSS1	N96D	PAPSS1-related disorder	VCV002505478	4	108615052	4	107693896	2505478	2670442		NC_000004.12:107693895:T:C	single nucleotide variant	missense variant	Uncertain significance	3-Apr-23	no assertion criteria provided						
NM_005443.5(PAPSS1):c.331C>T (p.Arg111Ter)	PAPSS1	R111*	PAPSS1-related disorder	VCV002505477	4	108615007	4	107693851	2505477	2670441		NC_000004.12:107693850:G:A	single nucleotide variant	nonsense	Uncertain significance	3-Apr-23	no assertion criteria provided						
NM_004539.4(NARS1):c.1251+699A>G	NARS1		"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	VCV002505476	18	55272390	18	57605158	2505476	2670440		NC_000018.10:57605157:T:C	single nucleotide variant	intron variant	Uncertain significance	16-Nov-22	no assertion criteria provided						
NM_015057.5(MYCBP2):c.8005C>T (p.Arg2669Ter)	MYCBP2	R2669*	MYCBP2-related disorder	VCV002505475	13	77699483	13	77125348	2505475	2670439		NC_000013.11:77125347:G:A	single nucleotide variant	nonsense	Uncertain significance	18-Oct-22	no assertion criteria provided						
NM_153354.5(TMEM161B):c.800+5G>A	TMEM161B		TMEM161B-related lissencephaly	VCV002505474	5	87501626	5	88205809	2505474	2670438		NC_000005.10:88205808:C:T	single nucleotide variant	non-coding transcript variant|intron variant	Uncertain significance	20-Jul-22	no assertion criteria provided						
NM_001357.5(DHX9):c.3488A>G (p.Lys1163Arg)	DHX9	K1163R	DHX9-related disorder	VCV002505473	1	182856244	1	182887109	2505473	2670437		NC_000001.11:182887108:A:G	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	22-Nov-22	no assertion criteria provided						
NM_006133.3(DAGLA):c.2456_2457del (p.His819fs)	DAGLA	H819fs	DAGLA-related disorder	VCV002505472	11	61511287 - 61511288	11	61743815 - 61743816	2505472	2670436		NC_000011.10:61743814:CAC:C	Deletion	frameshift variant	Uncertain significance	13-Oct-22	no assertion criteria provided						
NC_000019.10:g.13185527_13190803dup	NFIX		Malan overgrowth syndrome	VCV002505471	19	13296340 - 13296341	19	13185526 - 13185527	2505471	2670435			Duplication		Uncertain significance	7-Sep-22	no assertion criteria provided						
NM_138288.4(SPTSSA):c.152C>T (p.Thr51Ile)	SPTSSA	T51I	"SPTSSA-related disorder|Spastic paraplegia 90A, autosomal dominant"	VCV002505470	14	34904471	14	34435265	2505470	2670434		NC_000014.9:34435264:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	7-Dec-23	no assertion criteria provided						
NM_139276.3(STAT3):c.1339C>G (p.His447Asp)	STAT3	"H415D, H421D, H427D, H447D, H452D"	not provided	VCV002503129	17	40478160	17	42326142	2503129	2668310		NC_000017.11:42326141:G:C	single nucleotide variant	missense variant|intron variant	Uncertain significance	29-Nov-22	"criteria provided, single submitter"						
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)	RAPGEFL1	"R265*, R271*, R422*"	Familial cold autoinflammatory syndrome 2	VCV002498150	17	38346943	17	40190691	2498150	2473229		NC_000017.11:40190690:C:T	single nucleotide variant	nonsense	Uncertain significance	19-Oct-17	no assertion criteria provided						
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)	PI4KA	"D1633N, D1642N, D1664N"	Phenylketonuria	VCV002498149	22	21080781	22	20726493	2498149	2473228		NC_000022.11:20726492:C:T	single nucleotide variant	missense variant	Uncertain significance	29-Nov-22	no assertion criteria provided						
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)	PPP2R1A	I32M	Houge-Janssens syndrome 2	VCV002498148	19	52705214	19	52201961	2498148	2473227		NC_000019.10:52201960:C:G	single nucleotide variant	5 prime UTR variant|missense variant|non-coding transcript variant	Likely pathogenic	7-Nov-22	no assertion criteria provided						
NM_001195605.2(ZNF865):c.2091C>G (p.Tyr697Ter)	ZNF865	Y697*	ZNF865-related disorder	VCV002498147	19	56127075	19	55615709	2498147	2473226		NC_000019.10:55615708:C:G	single nucleotide variant	nonsense	Uncertain significance	14-Oct-22	no assertion criteria provided						
NM_004599.4(SREBF2):c.1556G>A (p.Arg519His)	SREBF2	R519H	SREBF2-related disorder	VCV002498146	22	42273402	22	41877398	2498146	2473225		NC_000022.11:41877397:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	21-Jun-22	no assertion criteria provided						
NM_153354.5(TMEM161B):c.980T>C (p.Leu327Ser)	TMEM161B	"L145S, L316S, L327S"	TMEM161B-related lissencephaly	VCV002498145	5	87494902	5	88199085	2498145	2473224		NC_000005.10:88199084:A:G	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	20-Jul-22	no assertion criteria provided						
NM_003545.4(H4C5):c.295T>C (p.Tyr99His)	H4C5	Y99H	not specified	VCV002443864	6	26205167	6	26204939	2443864	2417600		NC_000006.12:26204938:T:C	single nucleotide variant	missense variant	Likely pathogenic	4-Aug-23	"criteria provided, single submitter"						
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)	CHD3	"R1725W, R1759W, R1818W"	Snijders Blok-Campeau syndrome	VCV002442106	17	7812028	17	7908710	2442106	2415819		NC_000017.11:7908709:C:T	single nucleotide variant	missense variant	Uncertain significance	24-Apr-23	"criteria provided, single submitter"						
NM_001080472.4(FITM2):c.576del (p.Val193fs)	FITM2	V193fs	Siddiqi syndrome	VCV002441981	20	42935478	20	44306838	2441981	2415695		NC_000020.11:44306837:AA:A	Deletion	frameshift variant	Likely pathogenic	7-May-21	"criteria provided, single submitter"						
NM_001393769.1(MED12L):c.3664+2T>G	MED12L|P2RY12		Nizon-Isidor syndrome	VCV002441646	3	151087339	3	151369551	2441646	2415362		NC_000003.12:151369550:T:G	single nucleotide variant	splice donor variant|intron variant	Likely pathogenic	18-Oct-22	"criteria provided, single submitter"						
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)	LRRC37A2|NSF	P563R	Developmental and epileptic encephalopathy 96	VCV002434446	17	44791279	17	46713913	2434446	2408383		NC_000017.11:46713912:C:G	single nucleotide variant	missense variant|non-coding transcript variant	Likely pathogenic	24-Jul-23	"criteria provided, single submitter"						
NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)	ZBTB47	"E680G, E708G"	Neurodevelopmental delay|Seizure	VCV002430193	3	42705885	3	42664393	2430193	2403696		NC_000003.12:42664392:A:G	single nucleotide variant	missense variant	Uncertain significance	4-Dec-17	"criteria provided, single submitter"						
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)	PPFIA3	R415W	not provided	VCV002430186	19	49637134	19	49133877	2430186	2403689		NC_000019.10:49133876:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic		"criteria provided, single submitter"						
NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)	XPNPEP3	K247R	Nephronophthisis-like nephropathy 1	VCV002151427	22	41282467	22	40886463	2151427	1884993		NC_000022.11:40886462:A:G	single nucleotide variant	missense variant	Uncertain significance	16-Jun-22	"criteria provided, single submitter"						
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)	ATP13A2	"S349fs, S344fs"	Autosomal recessive spastic paraplegia type 78	VCV001810422	1	17323664 - 17323665	1	16997169 - 16997170	1810422	1867437		NC_000001.11:16997168:CTCTCTC:CTCTC	Microsatellite	frameshift variant	Pathogenic	30-Jun-22	"criteria provided, single submitter"						
Single allele	WWOX		"Developmental and epileptic encephalopathy, 28"	VCV001810421			16	78375608 - 78407230	1810421	1867436			Deletion		Pathogenic	8-Jul-22	no assertion criteria provided						
NM_001145346.2(RBMXL3):c.2635G>A (p.Asp879Asn)	LRCH2|RBMXL3	D879N	not specified	VCV001810420	X	114426639	X	115192076	1810420	1867435		NC_000023.11:115192075:G:A	single nucleotide variant	missense variant|intron variant	Uncertain significance	12-Sep-23	"criteria provided, single submitter"						
NM_001385682.1(MAP4):c.1370A>G (p.Asn457Ser)	MAP4	"N444S, N486S, N350S, N378S, N393S, N419S, N427S, N457S, N485S, N309S, N355S, N416S, N433S, N474S, N246S, N431S, N434S, N469S"	Kleine-Levin syndrome	VCV001810419	3	47957947	3	47916457	1810419	1867434		NC_000003.12:47916456:T:C	single nucleotide variant	missense variant|intron variant	Uncertain significance	19-Oct-17	no assertion criteria provided						
NM_001385682.1(MAP4):c.5800_5820del (p.Ser1934_Pro1940del)	MAP4		Kleine-Levin syndrome	VCV001810418	3	47913528 - 47913548	3	47872038 - 47872058	1810418	1867433		NC_000003.12:47872037:TGGGGCAGAAGCTGGCTTGGATGG:TGG	Deletion	inframe deletion|inframe_indel	Uncertain significance	19-Oct-17	no assertion criteria provided						
Multiple alleles	PLXNB3-AS1|IDH3G|PLXNB3|SRPK3|SSR4		SSR4-congenital disorder of glycosylation	VCV001810417	X||	153022732 - 153022753	X|X|X	153757278 - 153757299	1810417	1867430|1867431|1867432		NC_000023.11:153757277:TCCGGGGGGCAGAGGTTGCAGT:	Haplotype		Pathogenic	15-Mar-22	no assertion criteria provided						
NM_017677.4(MTMR8):c.1951G>A (p.Asp651Asn)	MTMR8	"D417N, D651N"	not specified	VCV001810416	X	63488581	X	64268701	1810416	1867429		NC_000023.11:64268700:C:T	single nucleotide variant	missense variant	Uncertain significance	28-Feb-23	"criteria provided, single submitter"						
NM_003491.4(NAA10):c.139G>A (p.Asp47Asn)	NAA10	D47N	Kleine-Levin syndrome	VCV001810415	X	153199436	X	153933983	1810415	1867428		NC_000023.11:153933982:C:T	single nucleotide variant	missense variant	Uncertain significance	19-Oct-17	no assertion criteria provided						
NM_015103.3(PLXND1):c.5629A>G (p.Ile1877Val)	PLXND1	I1877V	Kleine-Levin syndrome	VCV001810414	3	129275492	3	129556649	1810414	1867427		NC_000003.12:129556648:T:C	single nucleotide variant	missense variant	Uncertain significance	19-Oct-17	no assertion criteria provided						
NM_018328.4:c.-925+35305_-557+13791del	MBD5		"Intellectual disability, autosomal dominant 1"	VCV001810413					1810413	1867426			Deletion		Uncertain significance	14-Sep-22	no assertion criteria provided						
NR_023317.1(RNU7-1):n.23T>G	C12orf57|RNU7-1		Aicardi-Goutieres syndrome 9	VCV001810412	12	7053001	12	6943838	1810412	1867425		NC_000012.12:6943837:T:G	single nucleotide variant	non-coding transcript variant|intron variant	Uncertain significance	2-Sep-22	"criteria provided, single submitter"						
NM_001260.3(CDK8):c.586A>T (p.Thr196Ser)	CDK8	"T23S, T196S"	Intellectual developmental disorder with hypotonia and behavioral abnormalities	VCV001810411	13	26959419	13	26385282	1810411	1867424		NC_000013.11:26385281:A:T	single nucleotide variant	missense variant	Likely pathogenic	12-Jul-22	"criteria provided, single submitter"						
NM_005632.3(CAPN15):c.2206C>T (p.Arg736Ter)	CAPN15	R736*	Oculogastrointestinal-neurodevelopmental syndrome	VCV001810410	16	601525	16	551525	1810410	1867423		NC_000016.10:551524:C:T	single nucleotide variant	nonsense	Likely pathogenic	22-Jul-22	"criteria provided, single submitter"						
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)	AFG3L2	W583*	Spastic ataxia 5|not provided	VCV001810409	18	12344161	18	12344162	1810409	1867422		NC_000018.10:12344161:C:T	single nucleotide variant	nonsense	Likely pathogenic	21-Jul-23	"criteria provided, multiple submitters, no conflicts"						
NM_015001.3(SPEN):c.3978A>G (p.Ile1326Met)	SPEN	I1326M	Radio-Tartaglia syndrome	VCV001810408	1	16256713	1	15930218	1810408	1867421		NC_000001.11:15930217:A:G	single nucleotide variant	missense variant	Uncertain significance	30-Jun-22	"criteria provided, single submitter"						
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)	RNF13	"E188*, E176*, E307*"	"Developmental and epileptic encephalopathy, 73"	VCV001810407	3	149678664	3	149960877	1810407	1867420		NC_000003.12:149960876:G:T	single nucleotide variant	nonsense|non-coding transcript variant	Likely pathogenic	19-Aug-19	no assertion criteria provided						
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)	RRAGD		"RRAGD-related disorder|Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	VCV001802633	6	90097231	6	89387512	1802633	1859681		NC_000006.12:89387511:G:A	single nucleotide variant	missense variant	Pathogenic	8-Dec-22	no assertion criteria provided						
NM_003560.4(PLA2G6):c.2035-926G>A	PLA2G6		not provided|PLA2G6-associated neurodegeneration	VCV001711552	22	38510587	22	38114580	1711552	1709968		NC_000022.11:38114579:C:T	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	3-Aug-23	"criteria provided, conflicting classifications"						
NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)	CADM3|CADM3-AS1	"G288C, G334C, G368C"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	VCV001710197	1	159169588	1	159199798	1710197	1708591		NC_000001.11:159199797:G:T	single nucleotide variant	non-coding transcript variant|missense variant	Uncertain significance	10-Apr-21	"criteria provided, single submitter"						
NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)	DPH5	N110S	"DPH5-related diphthamide-deficiency syndrome|Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	VCV001708534	1	101479306	1	101013750	1708534	1706879		NC_000001.11:101013749:T:C	single nucleotide variant	missense variant	Pathogenic	2-Dec-22	no assertion criteria provided						
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)	DPH5|SLC30A7		"DPH5-related diphthamide-deficiency syndrome|Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	VCV001708533	1	101458208	1	100992652	1708533	1706878		NC_000001.11:100992651:G:A	single nucleotide variant	nonsense	Pathogenic	2-Dec-22	no assertion criteria provided						
NM_003870.4(IQGAP1):c.1367T>C (p.Met456Thr)	IQGAP1	M456T	IQGAP1-associated immune condition	VCV001705032	15	90996404	15	90453172	1705032	1699564		NC_000015.10:90453171:T:C	single nucleotide variant	missense variant	Uncertain significance	13-Sep-22	"criteria provided, single submitter"						
NM_006247.4(PPP5C):c.139G>A (p.Ala47Thr)	PPP5C	A47T	PPP5C-related disorder|not provided	VCV001704329	19	46857022	19	46353765	1704329	1698864		NC_000019.10:46353764:G:A	single nucleotide variant	missense variant	Uncertain significance	9-Sep-22	no assertion criteria provided						
NM_017780.4(CHD7):c.2239-16T>A	CHD7		CHARGE association	VCV001703253	8	61712931	8	60800372	1703253	1695644		NC_000008.11:60800371:T:A	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	15-Feb-22	"criteria provided, conflicting classifications"						
NM_001376.5(DYNC1H1):c.4147T>C (p.Tyr1383His)	DYNC1H1	Y1383H	"Intellectual disability, autosomal dominant 13"	VCV001703252	14	102467363	14	102001026	1703252	1695643		NC_000014.9:102001025:T:C	single nucleotide variant	missense variant	Uncertain significance	6-Jan-22	"criteria provided, single submitter"						
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)	SOX5	"Q62fs, Q65fs, Q75fs"	Lamb-Shaffer syndrome	VCV001703251	12	24048772 - 24048773	12	23895838 - 23895839	1703251	1695642		NC_000012.12:23895837:TT:	Deletion	frameshift variant|intron variant	Likely pathogenic	22-Jun-22	"criteria provided, single submitter"						
NR_029686.1(MIR145):n.18C>A	CARMN|MIR145		MIR145-related multisystemic smooth muscle dysfunction	VCV001703250	5	148810226	5	149430663	1703250	1695641		NC_000005.10:149430662:C:A	single nucleotide variant	non-coding transcript variant	Uncertain significance	24-May-22	"criteria provided, single submitter"						
NM_013265.4(VPS51):c.1878+42G>A	VPS51		"Pontocerebellar hypoplasia, type 13"	VCV001703249	11	64877437	11	65109965	1703249	1695640		NC_000011.10:65109964:G:A	single nucleotide variant	intron variant	Uncertain significance	9-May-22	no assertion criteria provided						
NM_018082.6(POLR3B):c.2084-3092_2294-553del	LOC130008660|POLR3B		Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	VCV001703248	12	106845188 - 106850363	12	106451410 - 106456585	1703248	1695639			Deletion	splice acceptor variant|splice donor variant	Uncertain significance	24-May-22	"criteria provided, single submitter"						
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)	RFC1	"R357*, R383*"	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	VCV001703247	4	39318591	4	39316971	1703247	1695638		NC_000004.12:39316970:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	1-Jun-22	"criteria provided, multiple submitters, no conflicts"						
NM_001039591.3(USP9X):c.1315-284G>T	USP9X		"Intellectual disability, X-linked 99, syndromic, female-restricted"	VCV001703246	X	41003491	X	41144238	1703246	1695637		NC_000023.11:41144237:G:T	single nucleotide variant	intron variant	Uncertain significance	17-May-22	"criteria provided, single submitter"						
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)	VPS13D	"V4056A, V4081A"	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	VCV001703245	1	12476789	1	12416736	1703245	1695636		NC_000001.11:12416735:T:C	single nucleotide variant	missense variant	Likely pathogenic	10-Jun-22	"criteria provided, single submitter"						
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)	VPS13D	"Q3951fs, Q3976fs"	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	VCV001703244	1	12463922	1	12403869	1703244	1695635		NC_000001.11:12403868:C:	Deletion	frameshift variant	Pathogenic	10-Jun-22	"criteria provided, single submitter"						
NM_014874.4(MFN2):c.600-31T>G	MFN2		"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;"	VCV001703243	1	12058796	1	11998739	1703243	1695634		NC_000001.11:11998738:T:G	single nucleotide variant	intron variant	Pathogenic	10-May-22	"criteria provided, single submitter"						
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys)	WARS2	"G27C, G50C"	"Parkinsonism-dystonia 3, childhood-onset"	VCV001690649	1	119619173	1	119076550	1690649	1683057	rs11552864	NC_000001.11:119076549:C:A	single nucleotide variant	missense variant|5 prime UTR variant|intron variant	Likely pathogenic	20-Apr-21	"criteria provided, single submitter"						
NM_004046.6(ATP5F1A):c.992C>T (p.Pro331Leu)	ATP5F1A	"P281L, P309L, P331L"	ATP5F1A-related disorder	VCV001690648	18	43667158	18	46087192	1690648	1683056	rs2144178681	NC_000018.10:46087191:G:A	single nucleotide variant	missense variant	Uncertain significance	14-Apr-17	"criteria provided, single submitter"						
NM_003482.4(KMT2D):c.10868A>G (p.Gln3623Arg)	KMT2D	Q3623R	Kabuki syndrome 1	VCV001690647	12	49427620	12	49033837	1690647	1683055	rs1304886930	NC_000012.12:49033836:T:C	single nucleotide variant	missense variant	Uncertain significance	25-Feb-21	"criteria provided, single submitter"						
NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe)	TNPO2	S548F	"Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"	VCV001690646	19	12817035	19	12706221	1690646	1683054	rs2145492753	NC_000019.10:12706220:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Likely pathogenic	3-Feb-22	"criteria provided, single submitter"						
NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer)	NAV2		NAV2-related neurodevelopmental condition	VCV001690645	11	20125206	11	20103660	1690645	1683053	rs2153703273	NC_000011.10:20103659:A:	Deletion	nonsense	Uncertain significance	6-Feb-18	"criteria provided, single submitter"						
NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu)	NDUFAF8|LOC130061928	M1L	"Mitochondrial complex 1 deficiency, nuclear type 34"	VCV001690644	17	79213164	17	81239364	1690644	1683052	rs1318084629	NC_000017.11:81239363:A:C	single nucleotide variant	missense variant|initiator_codon_variant|5 prime UTR variant	Pathogenic	30-Mar-22	"criteria provided, multiple submitters, no conflicts"						
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)	PDGFB	"R185*, R200*"	"Basal ganglia calcification, idiopathic, 5|not provided"	VCV001690643	22	39626092	22	39230087	1690643	1683051	rs1932260742	NC_000022.11:39230086:G:A	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	4-May-22	"criteria provided, conflicting classifications"						
NM_030948.3:c.251-63908_415+29843dup	PHACTR1		PHACTR1-related neurodevelopmental condition	VCV001690642					1690642	1683050			Duplication		Likely pathogenic	3-Sep-21	"criteria provided, single submitter"						
Single allele	ATAD3A|ATAD3B|ATAD3C		ATAD3 gene cluster related condition	VCV001690641	1	1397489 - 1453590			1690641	1683049			Duplication		Uncertain significance	2-Jul-20	"criteria provided, single submitter"						
NM_145117.5(NAV2):c.5011_5012del (p.Leu1672fs)	NAV2	"L1608fs, L1672fs, L1728fs, L736fs"	NAV2-related neurodevelopmental condition	VCV001690640	11	20099123 - 20099124	11	20077577 - 20077578	1690640	1683048	rs2153657779	NC_000011.10:20077576:AGAG:AG	Microsatellite	frameshift variant	Uncertain significance	6-Feb-18	"criteria provided, single submitter"						
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)	PI4KA	"R596*, R618*"	"Spastic paraplegia 84, autosomal recessive|PI4KA-related disorder"	VCV001676320					1676320	1667811	rs201395198		single nucleotide variant		Likely pathogenic	4-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_001277115.2(DNAH11):c.3000+3A>G	DNAH11|LOC126859961		not provided|Primary ciliary dyskinesia	VCV001477720	7	21639740	7	21600122	1477720	1436599	rs781625159	NC_000007.14:21600121:A:G	single nucleotide variant	intron variant	Uncertain significance	12-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_001395891.1(CLASP1):c.196-601A>C	CLASP1|RNU4ATAC		not provided	VCV001474999	2	122288502	2	121530926	1474999	1403909	rs767236617	NC_000002.12:121530925:T:G	single nucleotide variant	non-coding transcript variant|intron variant	Uncertain significance	31-Dec-23	"criteria provided, single submitter"						
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys)	NEUROG3	Y131C	Congenital malabsorptive diarrhea 4|not provided	VCV001474835	10	71332408	10	69572652	1474835	1503921	rs758978508	NC_000010.11:69572651:T:C	single nucleotide variant	missense variant	Uncertain significance	12-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp)	ALPL	"G378D, G400D, G455D"	not provided	VCV001464855	1	21903930	1	21577437	1464855	1514566	rs1289406215	NC_000001.11:21577436:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	5-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_005032.7(PLS3):c.583-3C>A	PLS3		Bone mineral density quantitative trait locus 18|not provided	VCV001362528	X	114869190	X	115634878	1362528	1373276	rs2147551714	NC_000023.11:115634877:C:A	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	22-Jun-22	"criteria provided, conflicting classifications"						
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)	SEPHS1	"R300W, R304W, R369W, R371W"	not provided	VCV001343383	10	13361210	10	13319210	1343383	1335050		NC_000010.11:13319209:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic	24-Feb-22	"criteria provided, single submitter"						
NC_000005.10:g.126508361_126769360del	ALDH7A1|LMNB1|LMNB1-DT|LOC112997555|LOC129389358|LOC129389359|LOC129994503|LOC129994504|LOC129994505|PHAX|SPMIP10		Adult-onset autosomal dominant demyelinating leukodystrophy	VCV001342147			5	126508361 - 126769360	1342147	1333545			Deletion		Pathogenic	12-Jul-21	"criteria provided, single submitter"						
NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)	RAB5C	"Q113R, Q80R"	Inborn genetic diseases|RAB5C-related disorder	VCV001342146	17	40280746	17	42128728	1342146	1333544	rs2144062523	NC_000017.11:42128727:T:C	single nucleotide variant	missense variant	Uncertain significance	26-Oct-22	"criteria provided, multiple submitters, no conflicts"						
NM_001110556.2(FLNA):c.4727G>A (p.Gly1576Glu)	FLNA	G1576E	FLNA-related disorder	VCV001342145	X	153586595	X	154358227	1342145	1333543	rs2148110332	NC_000023.11:154358226:C:T	single nucleotide variant	missense variant	Uncertain significance	2-Dec-21	"criteria provided, single submitter"						
NM_005811.5(GDF11):c.916G>A (p.Glu306Lys)	GDF11	E306K	Vertebral hypersegmentation and orofacial anomalies	VCV001342144	12	56143358	12	55749574	1342144	1333542	rs1444997099	NC_000012.12:55749573:G:A	single nucleotide variant	missense variant	Uncertain significance	1-Dec-21	"criteria provided, single submitter"						
NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)	TUBB4B	P358S	Leber congenital amaurosis with early-onset deafness|not provided	VCV001342143	9	140137742	9	137243290	1342143	1333541	rs2131435194	NC_000009.12:137243289:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	8-Nov-23	"criteria provided, conflicting classifications"						
NM_001042750.2(STAG2):c.290C>T (p.Ser97Leu)	STAG2	S97L	STAG2-related disorder|not provided	VCV001342142	X	123171378	X	124037528	1342142	1333540	rs777893472	NC_000023.11:124037527:C:T	single nucleotide variant	missense variant	Uncertain significance	8-Nov-22	"criteria provided, multiple submitters, no conflicts"						
NM_001365276.2(TNXB):c.7943G>A (p.Trp2648Ter)	TNXB	W2648*	TNXB-related hypermobile Ehlers-Danlos syndrome	VCV001342141	6	32024563	6	32056786	1342141	1333539	rs968981994	NC_000006.12:32056785:C:T	single nucleotide variant	nonsense	Pathogenic	30-Dec-20	"criteria provided, single submitter"						
NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter)	COL4A1	Q1453*	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	VCV001342140	13	110814682	13	110162335	1342140	1333538	rs2139146179	NC_000013.11:110162334:G:A	single nucleotide variant	nonsense	Likely pathogenic	6-Jan-22	"criteria provided, single submitter"						
NM_002336.3(LRP6):c.3399del (p.Ala1134fs)	LRP6	A1134fs	"Tooth agenesis, selective, 7"	VCV001342139	12	12291467	12	12138533	1342139	1333537	rs2136885834	NC_000012.12:12138532:A:	Deletion	frameshift variant	Pathogenic	6-Jan-22	"criteria provided, single submitter"						
NM_002868.4(RAB5B):c.406G>C (p.Asp136His)	RAB5B	D136H	RAB5B-associated surfactant dysfunction disorder	VCV001342138	12	56384556	12	55990772	1342138	1333536	rs2136490152	NC_000012.12:55990771:G:C	single nucleotide variant	missense variant|intron variant	Uncertain significance	10-Jan-19	"criteria provided, single submitter"						
NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met)	POLR3A	T596M	not specified|not provided|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	VCV001334854	10	79769417	10	78009659	1334854	1325775	rs756953635	NC_000010.11:78009658:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	24-Jan-24	"criteria provided, conflicting classifications"						
NC_000001.11:g.27491184_27584566del	AHDC1|LOC105376892|LOC129929885|LOC129929886|LOC129929887|LOC129929888|LOC129929889|LOC129929890		AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	VCV001327125			1	27491184 - 27584566	1327125	1317622			Deletion		Pathogenic	18-Oct-21	"criteria provided, single submitter"						
NM_000808.4(GABRA3):c.1037A>G (p.Tyr346Cys)	GABRA3	Y346C	GABRA3-related disorder	VCV001327124	X	151358308	X	152189836	1327124	1317621	rs2124347030	NC_000023.11:152189835:T:C	single nucleotide variant	missense variant	Uncertain significance	10-Sep-21	"criteria provided, single submitter"						
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del)	EFCAB10|RINT1	"G359del, G392del, G622del, G700del, L148del"	Infantile liver failure syndrome 3	VCV001327123	7	105206003 - 105206005	7	105565556 - 105565558	1327123	1317620	rs1304094668	NC_000007.14:105565555:AGGAGGAG:AGGAG	Microsatellite	inframe_deletion|non-coding transcript variant|intron variant	Uncertain significance	7-Sep-21	"criteria provided, single submitter"						
NM_021930.6(RINT1):c.604C>T (p.Gln202Ter)	RINT1	"Q124*, Q202*"	Infantile liver failure syndrome 3	VCV001327122	7	105187445	7	105546998	1327122	1317619	rs1562847240	NC_000007.14:105546997:C:T	single nucleotide variant	nonsense|5 prime UTR variant|non-coding transcript variant|intron variant	Uncertain significance	7-Sep-21	"criteria provided, single submitter"						
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)	RPA1	"T257A, T270A"	RPA1-related short telomere syndrome	VCV001327121	17	1782557	17	1879263	1327121	1317618	rs2151286956	NC_000017.11:1879262:A:G	single nucleotide variant	missense variant	Uncertain significance	10-Sep-18	"criteria provided, single submitter"						
NM_004766.3(COPB2):c.1906dup (p.Thr636fs)	COPB2	T636fs	COPB2-related disorder	VCV001327120	3	139081337 - 139081338	3	139362495 - 139362496	1327120	1317617	rs2107797719	NC_000003.12:139362495:T:TT	Duplication	frameshift variant|non-coding transcript variant	Uncertain significance	30-Nov-21	"criteria provided, single submitter"						
NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs)	COPB2	K413fs	COPB2-related disorder	VCV001327119	3	139088354 - 139088355	3	139369512 - 139369513	1327119	1317616	rs2107801839	NC_000003.12:139369511:TTT:T	Deletion	frameshift variant|non-coding transcript variant	Uncertain significance	30-Nov-21	"criteria provided, single submitter"						
NM_001007228.2(SPOP):c.223G>A (p.Gly75Arg)	SPOP	G75R	SPOP-related neurodevelopmental condition	VCV001327118	17	47696725	17	49619363	1327118	1317615	rs2143273650	NC_000017.11:49619362:C:T	single nucleotide variant	missense variant	Pathogenic	28-Jun-21	"criteria provided, single submitter"						
NM_001083603.3(PTCH1):c.198+468G>T	PTCH1		Gorlin syndrome	VCV001327117	9	98278437	9	95516155	1327117	1317614	rs1445378342	NC_000009.12:95516154:C:A	single nucleotide variant	intron variant	Uncertain significance	4-Mar-20	"criteria provided, single submitter"						
NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys)	AIFM1|RAB33A	"E250K, E254K"	"Spondyloepimetaphyseal dysplasia, Bieganski type"	VCV001327116	X	129274529	X	130140554	1327116	1317613	rs2124656997	NC_000023.11:130140553:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	13-Sep-21	"criteria provided, single submitter"						
NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro)	NEUROD2	L163P	"Developmental and epileptic encephalopathy, 72"	VCV001327115	17	37762365	17	39606112	1327115	1317612	rs2144812147	NC_000017.11:39606111:A:G	single nucleotide variant	missense variant	Uncertain significance	30-Mar-19	"criteria provided, single submitter"						
NM_001367916.1(MAGT1):c.318C>A (p.Tyr106Ter)	MAGT1	"Y106*, Y138*"	"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"	VCV001327114	X	77126377	X	77870880	1327114	1317611	rs2077018821	NC_000023.11:77870879:G:T	single nucleotide variant	nonsense	Uncertain significance	23-Aug-17	"criteria provided, single submitter"						
NM_016653.3(MAP3K20):c.834CAA[1] (p.Asn279del)	MAP3K20|MAP3K20-AS1	N279del	MAP3K20-related disorder	VCV001327113	2	174074545 - 174074547	2	173209817 - 173209819	1327113	1317610	rs2106303300	NC_000002.12:173209816:ACAACAA:ACAA	Microsatellite	non-coding transcript variant|inframe_deletion	Likely pathogenic	29-May-18	"criteria provided, single submitter"						
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)	GLUL	M1I	not provided|Glutamine related condition	VCV001312453	1	182357870	1	182388735	1312453	1301835	rs2101936697	NC_000001.11:182388734:C:T	single nucleotide variant	missense variant|initiator_codon_variant	Uncertain significance	7-Sep-21	"criteria provided, multiple submitters, no conflicts"						
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)	PDHA1	"L179V, L186V, L217V"	not provided|Pyruvate dehydrogenase E1-alpha deficiency	VCV001309142	X	19372633	X	19354515	1309142	1299842	rs2147179733	NC_000023.11:19354514:C:G	single nucleotide variant	missense variant|intron variant	Uncertain significance	13-Aug-22	"criteria provided, multiple submitters, no conflicts"						
NM_001080472.4(FITM2):c.146T>A (p.Leu49His)	FITM2	L49H	not provided	VCV001303579	20	42939643	20	44311003	1303579	1293856	rs2146092876	NC_000020.11:44311002:A:T	single nucleotide variant	missense variant	Uncertain significance	11-Sep-20	"criteria provided, single submitter"						
NM_004655.4(AXIN2):c.196G>A (p.Glu66Lys)	AXIN2	E66K	not provided|AXIN2-related disorder|Oligodontia-cancer predisposition syndrome	VCV001303554	17	63554543	17	65558425	1303554	1293831	rs2144589822	NC_000017.11:65558424:C:T	single nucleotide variant	missense variant	Uncertain significance	3-May-22	"criteria provided, multiple submitters, no conflicts"						
NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg)	TNPO2	Q28R	TNPO2-related disorder	VCV001299683	19	12831709	19	12720895	1299683	1289737	rs2145624064	NC_000019.10:12720894:T:C	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	3-Jan-22	"criteria provided, single submitter"						
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	DOHH	P152L	"Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment"	VCV001285604	19	3492394	19	3492396	1285604	1275446	rs553950608	NC_000019.10:3492395:G:A	single nucleotide variant	missense variant	Likely pathogenic		"criteria provided, single submitter"						
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)	SOX4	S347*	Coffin-Siris syndrome 10	VCV001220547	6	21595805	6	21595574	1220547	1210524	rs2113558441	NC_000006.12:21595573:C:A	single nucleotide variant	nonsense	Likely pathogenic	18-Jun-21	"criteria provided, single submitter"						
NM_001195553.2(DCX):c.946+4588G>T	DCX		Lissencephaly type 1 due to doublecortin gene mutation	VCV001220546	X	110569544	X	111326316	1220546	1210523	rs2147622525	NC_000023.11:111326315:C:A	single nucleotide variant	intron variant	Uncertain significance	1-Jun-21	"criteria provided, single submitter"						
NM_020964.3(EPG5):c.5943-9_5943-5del	EPG5		not provided|Vici syndrome	VCV001220545	18	43456312 - 43456316	18	45876347 - 45876351	1220545	1210522	rs773330060	NC_000018.10:45876346:AAAGAAAAGAA:AAAGAA	Microsatellite	intron variant	Conflicting classifications of pathogenicity	11-Jan-24	"criteria provided, conflicting classifications"						
Single allele	KMT2C		Kleefstra syndrome 2	VCV001220536	7	151993317 - 152093215			1220536	1210512			Deletion		Uncertain significance	3-Mar-21	no assertion criteria provided						
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	MED12	R1138W	"Cholestasis-pigmentary retinopathy-cleft palate syndrome|MED12-related disorder|Blepharophimosis - intellectual disability syndrome, MKB type"	VCV001210242	X	70348505	X	71128655	1210242	1200242	rs1057523906	NC_000023.11:71128654:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	23-Feb-23	"criteria provided, conflicting classifications"						
NR_023317.1(RNU7-1):n.28C>T	C12orf57|RNU7-1		Aicardi-Goutieres syndrome 9|not provided	VCV001202611	12	7053006	12	6943843	1202611	1192613	rs180837208	NC_000012.12:6943842:C:T	single nucleotide variant	non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	26-Oct-22	"criteria provided, multiple submitters, no conflicts"						
NM_012062.5(DNM1L):c.2094TCT[1] (p.Leu700del)	DNM1L	"L497del, L663del, L674del, L676del, L689del, L700del, L702del, L713del"	DNM1L-related movement disorder|not provided	VCV001189761	12	32895622 - 32895624	12	32742688 - 32742690	1189761	1180994	rs2137612089	NC_000012.12:32742687:TCTTCT:TCT	Microsatellite	inframe_deletion	Likely pathogenic	13-Aug-21	"criteria provided, multiple submitters, no conflicts"						
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)	ATP5F1A	"R132Q, R160Q, R182Q"	not provided|ATP5F1A-related disorder	VCV001185778	18	43669637	18	46089671	1185778	1178265	rs2144189607	NC_000018.10:46089670:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	6-Jul-23	"criteria provided, conflicting classifications"						
NC_012920.1(MT-CYB):m.591C>T	MT-TF		"Nephropathy, chronic tubulointerstitial|Hypokalemia|Hypomagnesemia"	VCV001177637	MT	591	MT	591	1177637	1167121	rs2124590812	NC_012920.1:590:C:T	single nucleotide variant		Pathogenic/Likely pathogenic	22-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_017780.4(CHD7):c.2239-20_2239-6del	CHD7		CHARGE association	VCV001172544	8	61712926 - 61712940	8	60800367 - 60800381	1172544	1161646	rs2150708627	NC_000008.11:60800366:TGTCTTGGGTTTTTGT:T	Deletion	intron variant	Pathogenic	10-Feb-20	"criteria provided, single submitter"						
NM_139137.4(KCNC2):c.1405G>T (p.Val469Leu)	KCNC2	V469L	KCNC2-related disorder	VCV001172543	12	75444380	12	75050600	1172543	1161647	rs2136943414	NC_000012.12:75050599:C:A	single nucleotide variant	missense variant	Uncertain significance	7-Apr-21	"criteria provided, single submitter"						
NM_000182.5(HADHA):c.68-414A>G	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	VCV001172542	2	26462425	2	26239557	1172542	1161640	rs1045384430	NC_000002.12:26239556:T:C	single nucleotide variant	intron variant	Uncertain significance	30-Apr-20	"criteria provided, single submitter"						
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)	DEGS1		"Leukodystrophy, hypomyelinating, 18"	VCV001172541	1	224380060 - 224380063	1	224192358 - 224192361	1172541	1161639	rs2102658561	NC_000001.11:224192357:TGAC:	Deletion	3 prime UTR variant|nonsense	Pathogenic/Likely pathogenic	25-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_014727.3(KMT2B):c.7614del (p.Thr2539fs)	KMT2B	T2539fs	"Dystonia 28, childhood-onset"	VCV001172540	19	36228599	19	35737698	1172540	1161651	rs2146481256	NC_000019.10:35737697:CC:C	Deletion	frameshift variant	Pathogenic	1-Nov-18	"criteria provided, single submitter"						
NM_012398.3(PIP5K1C):c.436G>A (p.Glu146Lys)	PIP5K1C	E146K	PIP5K1C-related neurodevelopmental disorder	VCV001172539	19	3660996	19	3660998	1172539	1161653	rs2145483622	NC_000019.10:3660997:C:T	single nucleotide variant	missense variant	Uncertain significance	2-Aug-23	no assertion criteria provided						
NM_012398.3(PIP5K1C):c.662A>G (p.Tyr221Cys)	PIP5K1C	Y221C	not provided	VCV001172538	19	3653547	19	3653549	1172538	1161652	rs991616868	NC_000019.10:3653548:T:C	single nucleotide variant	missense variant	Pathogenic	31-Aug-23	"criteria provided, single submitter"						
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser)	MAST3	"G510S, G501S, G509S, G515S, G516S, G517S, G523S, G532S, G538S, G539S, G540S, G547S"	MAST3-related disorder|Pervasive developmental disorder|not provided	VCV001172537	19	18245432	19	18134622	1172537	1161650	rs1478088223	NC_000019.10:18134621:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	16-Feb-24	"criteria provided, conflicting classifications"						
NM_004380.3(CREBBP):c.3699-1469_3836+1579del	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	VCV001172536	16	3798049 - 3803276	16	3748048 - 3753275	1172536	1161648			Deletion	splice acceptor variant|splice donor variant	Pathogenic	17-Mar-21	"criteria provided, single submitter"						
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)	PRKAR1B	R335W	PRKAR1B-related neurodevelopmental disorder|not provided	VCV001172535	7	590210	7	550573	1172535	1161645	rs1475000361	NC_000007.14:550572:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	1-Feb-24	"criteria provided, multiple submitters, no conflicts"						
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser)	DNASE1L3	I60S	Autosomal systemic lupus erythematosus type 16	VCV001172534	3	58193996	3	58208269	1172534	1161644	rs2097405348	NC_000003.12:58208268:A:C	single nucleotide variant	missense variant	Uncertain significance	16-Feb-18	"criteria provided, single submitter"						
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)	DNASE1L3	T97fs	not provided|DNASE1L3-related disorder|Autosomal systemic lupus erythematosus type 16	VCV001172533	3	58191227 - 58191228	3	58205500 - 58205501	1172533	1161643	rs751206379	NC_000003.12:58205499:TGTGT:TGT	Microsatellite	frameshift variant|intron variant	Pathogenic	29-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_015426.5(POC1A):c.79_87del (p.Phe27_Ile29del)	POC1A		Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	VCV001172532	3	52185048 - 52185056	3	52151032 - 52151040	1172532	1161642	rs2107211932	NC_000003.12:52151031:GATACTGAAG:G	Deletion	inframe_deletion|5 prime UTR variant	Uncertain significance	12-Apr-19	"criteria provided, single submitter"						
NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser)	SPTBN1	"T255S, T268S"	SPTBN1-related disorder	VCV001172531	2	54848576	2	54621439	1172531	1161641	rs2103866356	NC_000002.12:54621438:C:G	single nucleotide variant	missense variant	Pathogenic	28-Apr-21	"criteria provided, single submitter"						
NM_015100.4(POGZ):c.2546-20T>A	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	VCV001172530	1	151379127	1	151406651	1172530	1161638	rs2102153141	NC_000001.11:151406650:A:T	single nucleotide variant	intron variant	Uncertain significance	29-Mar-21	"criteria provided, single submitter"						
NM_000088.4(COL1A1):c.104-284C>T	COL1A1|LOC130061152		Osteogenesis imperfecta type I	VCV001172529	17	48277592	17	50200231	1172529	1161649	rs2144595908	NC_000017.11:50200230:G:A	single nucleotide variant	intron variant	Uncertain significance	26-Mar-21	"criteria provided, single submitter"						
NM_000489.6(ATRX):c.5449-7A>G	ATRX		"Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome"	VCV001028792	X	76872205	X	77616737	1028792	1019072	rs2067371776	NC_000023.11:77616736:T:C	single nucleotide variant	intron variant	Likely pathogenic	13-Oct-20	"criteria provided, multiple submitters, no conflicts"						
NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln)	RBM28	"R582Q, R441Q"	not specified|ANE syndrome	VCV001028085	7	127957755	7	128317702	1028085	1016847	rs201234922	NC_000007.14:128317701:C:T	single nucleotide variant	missense variant	Uncertain significance	20-Mar-23	"criteria provided, multiple submitters, no conflicts"						
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)	DONSON	Y270C	not provided|DONSON-related Meier-Gorlin syndrome|Meier-Gorlin syndrome	VCV001012223	21	34955949	21	33583643	1012223	999978	rs367904759	NC_000021.9:33583642:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	20-Sep-23	"criteria provided, conflicting classifications"						
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)	DONSON	P224S	not provided|DONSON-related Meier-Gorlin syndrome|Meier-Gorlin syndrome	VCV001012222	21	34957011	21	33584705	1012222	999979	rs1028163227	NC_000021.9:33584704:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	20-Sep-23	"criteria provided, conflicting classifications"						
NM_032536.4(NTNG2):c.1425C>G (p.Cys475Trp)	NTNG2	C475W	"Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	VCV001012220	9	135117330	9	132241943	1012220	999972	rs774924316	NC_000009.12:132241942:C:G	single nucleotide variant	missense variant	Uncertain significance	12-Jan-21	"criteria provided, single submitter"						
NM_032536.4(NTNG2):c.858-13G>A	NTNG2		"Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	VCV001012219	9	135102223	9	132226836	1012219	999971	rs1840794100	NC_000009.12:132226835:G:A	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	12-Jan-21	"criteria provided, conflicting classifications"						
NC_000012.12:g.43775405_43788500del	IRAK4		Immunodeficiency 67	VCV001012218			12	43775405 - 43788500	1012218	999968			Deletion		Pathogenic	25-Nov-20	"criteria provided, single submitter"						
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter)	IRAK4	Q122*	Immunodeficiency 67	VCV001012217	12	44166039	12	43772236	1012217	999974	rs1416395914	NC_000012.12:43772235:C:T	single nucleotide variant	5 prime UTR variant|nonsense	Pathogenic	27-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)	DDX3X	"V327L, V497L, V513L"	"Intellectual disability, X-linked 102|not provided"	VCV001012216	X	41205797	X	41346544	1012216	999980	rs2063927856	NC_000023.11:41346543:G:C	single nucleotide variant	missense variant|non-coding transcript variant	Likely pathogenic	1-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu)	CLCN7	"F294L, F318L"	Autosomal dominant osteopetrosis 2	VCV001012215	16	1505761	16	1455760	1012215	999976	rs2038825509	NC_000016.10:1455759:A:G	single nucleotide variant	missense variant	Pathogenic	4-Sep-19	"criteria provided, single submitter"						
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln)	TCIRG1	P90Q	Autosomal recessive osteopetrosis 1	VCV001012214	11	67810182	11	68042715	1012214	999973	rs908094911	NC_000011.10:68042714:C:A	single nucleotide variant	5 prime UTR variant|missense variant	Uncertain significance	4-Sep-19	"criteria provided, single submitter"						
NM_000138.5(FBN1):c.6998-13A>G	FBN1		Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Marfan syndrome	VCV001012213	15	48719983	15	48427786	1012213	999975	rs2042989627	NC_000015.10:48427785:T:C	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	17-Apr-23	"criteria provided, conflicting classifications"						
NM_004408.4(DNM1):c.1493+5G>A	DNM1		"Developmental and epileptic encephalopathy, 31"	VCV001012212	9	131001799	9	128239520	1012212	999970	rs752004261	NC_000009.12:128239519:G:A	single nucleotide variant	intron variant	Uncertain significance	11-Jan-21	"criteria provided, single submitter"						
NM_001394372.1(BICRA):c.936del (p.Ala313fs)	BICRA	A313fs	BICRA-related disorder	VCV001012211	19	48183362	19	47680105	1012211	999977	rs1973010599	NC_000019.10:47680104:CC:C	Deletion	frameshift variant	Uncertain significance	10-Jul-19	"criteria provided, single submitter"						
NM_001099857.5(IKBKG):c.519-2A>C	IKBKG		NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)	VCV001012178	X	153788620	X	154560405	1012178	999935	rs2071121693	NC_000023.11:154560404:A:C	single nucleotide variant	splice acceptor variant|intron variant	Likely pathogenic	2-Mar-21	"criteria provided, single submitter"						
NM_000383.4(AIRE):c.1504-818G>A	AIRE		"Polyglandular autoimmune syndrome, type 1"	VCV000997002	21	45715448	21	44295565	997002	984707	rs181779633	NC_000021.9:44295564:G:A	single nucleotide variant	intron variant	Uncertain significance	5-Jun-20	"criteria provided, single submitter"						
NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser)	OTUD5	"G494S, G272S, G489S"	"Multiple congenital anomalies-neurodevelopmental syndrome, X-linked"	VCV000996323	X	48781128	X	48923851	996323	984037	rs2063620799	NC_000023.11:48923850:C:T	single nucleotide variant	missense variant	Pathogenic	6-Apr-21	"criteria provided, single submitter"						
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp)	FBN2	C1621W	Congenital contractural arachnodactyly	VCV000989338	5	127648342	5	128312650	989338	977207	rs1420949011	NC_000005.10:128312649:G:C	single nucleotide variant	missense variant	Uncertain significance	3-May-19	"criteria provided, single submitter"						
NC_000023.11:g.18419574_18504791del	CDKL5|LOC121853052|LOC130067999		"Developmental and epileptic encephalopathy, 2"	VCV000988898			X	18419574 - 18504791	988898	976825			Deletion		Pathogenic	7-Feb-20	no assertion criteria provided						
NM_203387.3(RNH1):c.1117C>T (p.Arg373Trp)	RNH1	R373W	RNH1-related disorder	VCV000988661	11	497981	11	497981	988661	976589	rs759267447	NC_000011.10:497980:G:A	single nucleotide variant	missense variant	Uncertain significance	28-Jun-19	"criteria provided, single submitter"						
NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs)	RNH1	S228fs	RNH1-related disorder	VCV000988660	11	498863 - 498866	11	498863 - 498866	988660	976590	rs1849424627	NC_000011.10:498862:GCGA:TGCCCAAGGCCCAG	Indel	frameshift variant	Uncertain significance	28-Jun-19	"criteria provided, single submitter"						
NC_000009.12:g.137729445_137745564dup	EHMT1|LOC130003141|LOC130003142		Kleefstra syndrome 1	VCV000988097			9	137729444 - 137745563	988097	976027			Duplication		Pathogenic	13-Oct-20	"criteria provided, single submitter"						
NM_001844.5(COL2A1):c.3165+2_3166-84del	COL2A1		Stickler syndrome type 1	VCV000988096	12	48371294 - 48371381	12	47977511 - 47977598	988096	976030	rs1938789358		Deletion	splice donor variant	Likely pathogenic	20-Oct-20	"criteria provided, single submitter"						
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)	BAP1	C91R	See cases|BAP1-associated neurodevelopmental disorder|BAP1-related tumor predisposition syndrome|Kury-Isidor syndrome|Kury-Isidor syndrome	VCV000988095	3	52442078	3	52408062	988095	976029	rs1705222655	NC_000003.12:52408061:A:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	13-Dec-23	"criteria provided, conflicting classifications"						
NM_007212.4(RNF2):c.209G>A (p.Arg70His)	RNF2	R70H	RNF2-associated neurodevelopmental condition	VCV000988094	1	185060832	1	185091700	988094	976028	rs1651767648	NC_000001.11:185091699:G:A	single nucleotide variant	missense variant	Uncertain significance	17-May-18	"criteria provided, single submitter"						
NM_014232.3(VAMP2):c.221C>T (p.Ala74Val)	VAMP2	"A74V, A76V"	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements|Inborn genetic diseases	VCV000985205	17	8064987	17	8161669	985205	974111	rs1983316869	NC_000017.11:8161668:G:A	single nucleotide variant	missense variant	Uncertain significance	9-Apr-20	"criteria provided, multiple submitters, no conflicts"						
NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly)	MORC2	"E360G, E422G"	"Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy|Inborn genetic diseases"	VCV000985095	22	31333906	22	30937919	985095	974233	rs2040680054	NC_000022.11:30937918:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	12-Apr-21	"criteria provided, conflicting classifications"						
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter)	SETD5	"R814*, R912*"	not provided|Developmental disorder|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	VCV000981701	3	9512152	3	9470468	981701	969774	rs2045177486	NC_000003.12:9470467:C:T	single nucleotide variant	nonsense	Pathogenic	3-Mar-23	"criteria provided, multiple submitters, no conflicts"						
NM_015949.3(GET4):c.837A>G (p.Ile279Met)	GET4	I279M	GET4-related disorder	VCV000979051	7	933550	7	893913	979051	967112	rs1844404490	NC_000007.14:893912:A:G	single nucleotide variant	missense variant	Uncertain significance	20-Jan-20	"criteria provided, single submitter"						
NM_000023.4(SGCA):c.957-11C>G	SGCA		not provided|Autosomal recessive limb-girdle muscular dystrophy type 2D	VCV000978048	17	48247990	17	50170629	978048	966167	rs1391089933	NC_000017.11:50170628:C:G	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	26-Oct-23	"criteria provided, conflicting classifications"						
NM_018671.5(UNC45A):c.1339_1340delinsCT (p.Ala447Leu)	UNC45A	"A302L, A432L, A447L"	Increased susceptibility to fractures|Diarrhea|UNC45A-associated Cholestasis|Impaired Hearing	VCV000978047	15	91489983 - 91489984	15	90946753 - 90946754	978047	966165	rs2036591621	NC_000015.10:90946752:GC:CT	Indel	missense variant	Uncertain significance	5-May-20	"criteria provided, single submitter"						
NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro)	UNC45A	"L222P, L237P, L92P"	UNC45A-associated Cholestasis|Impaired Hearing|Diarrhea|Increased susceptibility to fractures	VCV000978046	15	91485689	15	90942459	978046	966164	rs1291676751	NC_000015.10:90942458:T:C	single nucleotide variant	missense variant	Uncertain significance	5-May-20	"criteria provided, single submitter"						
NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter)	MPEG1	Y430*	MPEG1-related immunodeficiency	VCV000978045	11	58979049	11	59211576	978045	966162	rs1401529138	NC_000011.10:59211575:G:T	single nucleotide variant	nonsense	Uncertain significance	18-Feb-20	"criteria provided, single submitter"						
NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs)	ODC1	"P309fs, P438fs"	Neurodevelopmental disorder with alopecia and brain abnormalities	VCV000978044	2	10580920 - 10580923	2	10440794 - 10440797	978044	966156	rs1671795191	NC_000002.12:10440793:ACAG:	Deletion	frameshift variant	Likely pathogenic	7-Jun-20	"criteria provided, single submitter"						
NM_001001433.3(STX16):c.393+557_792+364del	STX16|STX16-NPEPL1		Pseudohypoparathyroidism type 1B	VCV000978043	20	57243567 - 57246544	20	58668511 - 58671488	978043	966169			Deletion	splice acceptor variant|splice donor variant	Pathogenic	6-May-20	"criteria provided, single submitter"						
NM_022089.4(ATP13A2):c.1749+442_2251+512del	ATP13A2		Kufor-Rakeb syndrome	VCV000978042	1	17317717 - 17319682	1	16991222 - 16993187	978042	966155			Deletion	splice acceptor variant|splice donor variant	Pathogenic	7-Jan-20	"criteria provided, single submitter"						
NM_001376571.1(MADD):c.4080del (p.Lys1361fs)	MADD	"K1080fs, K1150fs, K1199fs, K1211fs, K1221fs, K1226fs, K1228fs, K1229fs, K1232fs, K1246fs, K1255fs, K1258fs, K1259fs, K1260fs, K1264fs, K1268fs, K1269fs, K1275fs, K1276fs, K1279fs, K1280fs, K1288fs, K1289fs, K1294fs, K1296fs, K1297fs, K1298fs, K1299fs, K1300fs, K1301fs, K1302fs, K1303fs, K1305fs, K1310fs, K1314fs, K1317fs, K1318fs, K1319fs, K1322fs, K1328fs, K1337fs, K1339fs, K1340fs, K1341fs, K1342fs, K1343fs, K1357fs, K1361fs, K1363fs"	MADD-related disorder	VCV000978041	11	47331084	11	47309533	978041	966161	rs2086196870	NC_000011.10:47309532:GG:G	Deletion	frameshift variant|non-coding transcript variant	Pathogenic	22-Jul-20	"criteria provided, single submitter"						
NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu)	MADD	"P150L, P304L, P372L"	Deeah syndrome|MADD-related disorder	VCV000978040	11	47299735	11	47278184	978040	966160	rs147713337	NC_000011.10:47278183:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	29-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_001083962.2(TCF4):c.1486+1G>T	TCF4		Pitt-Hopkins syndrome	VCV000978039	18	52901778	18	55234547	978039	966168	rs2048816852	NC_000018.10:55234546:C:A	single nucleotide variant	splice donor variant	Pathogenic/Likely pathogenic	22-Aug-22	"criteria provided, multiple submitters, no conflicts"						
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)	COL4A1	G817E	Brain small vessel disease 1 with or without ocular anomalies	VCV000978038	13	110831278	13	110178931	978038	966163	rs1878013473	NC_000013.11:110178930:C:T	single nucleotide variant	missense variant	Likely pathogenic	16-Apr-20	"criteria provided, single submitter"						
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)	TTN	"D4108N, D5035N, D5352N"	Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Congenital titinopathy	VCV000978037	2	179597966	2	178733239	978037	966158	rs1190242728	NC_000002.12:178733238:C:T	single nucleotide variant	missense variant|intron variant	Pathogenic/Likely pathogenic	2-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_001267550.2(TTN):c.44516del (p.Asp14839fs)	TTN	"D12271fs, D13198fs, D14839fs, D5774fs, D5899fs, D5966fs"	Congenital titinopathy	VCV000978036	2	179490032	2	178625305	978036	966157	rs2058865334	NC_000002.12:178625304:T:	Deletion	frameshift variant	Likely pathogenic	24-Apr-20	"criteria provided, single submitter"						
NC_000017.11:g.46096853_46403941del	ARL17B|KANSL1|KANSL1-AS1|LOC112533643|LOC126862577|LOC129390878|LRRC37A|LRRC37A2		Koolen-de Vries syndrome	VCV000978035			17	46096853 - 46403941	978035	966174			Deletion		Pathogenic	29-May-20	"criteria provided, single submitter"						
NC_000023.11:g.64951692_65166933del	LOC130068372|LOC130068373|LOC130068374|ZC3H12B|ZC4H2		"Wieacker-Wolff syndrome, female-restricted"	VCV000978034			X	64951692 - 65166933	978034	966173			Deletion		Pathogenic	26-May-20	"criteria provided, single submitter"						
NC_000016.10:g.78152047_78188346del	LOC132090430|WWOX		"Developmental and epileptic encephalopathy, 28"	VCV000978033			16	78152047 - 78188346	978033	966172			Deletion		Pathogenic	8-Jul-20	"criteria provided, single submitter"						
NM_001042492.3(NF1):c.4110+945A>G	NF1		"Neurofibromatosis, type 1"	VCV000978032	17	29577082	17	31250064	978032	966166	rs2067468999	NC_000017.11:31250063:A:G	single nucleotide variant	intron variant	Pathogenic	29-Jun-20	"criteria provided, single submitter"						
NC_000007.14:g.1687729_1779914del	LNCRI|LOC123924889|LOC129997785|ELFN1|ELFN1-AS1		ELFN1-related disorder	VCV000978031			7	1687729 - 1779914	978031	966171			Deletion		Uncertain significance	18-Sep-18	"criteria provided, single submitter"						
NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr)	LOC130004599|NFKB2	"M353T, M395T"	"Immunodeficiency, common variable, 10"	VCV000978030	10	104159111	10	102399354	978030	966159	rs749068539	NC_000010.11:102399353:T:C	single nucleotide variant	missense variant	Uncertain significance	17-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_021222.3(PRUNE1):c.933G>A (p.Thr311=)	PRUNE1		"Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|Inborn genetic diseases"	VCV000978029	1	151001420	1	151028944	978029	966154	rs747498357	NC_000001.11:151028943:G:A	single nucleotide variant	synonymous variant|non-coding transcript variant|intron variant	Uncertain significance	29-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_001163435.3(TBCK):c.2060-6793_2235+427del	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	VCV000978028	4	107091825 - 107099220	4	106170668 - 106178063	978028	966170			Deletion	splice acceptor variant|splice donor variant	Pathogenic	19-May-20	"criteria provided, single submitter"						
NM_001697.3(ATP5PO):c.87+3A>G	ATP5PO|LOC126653351		ATP5PO-related disorder|Leigh syndrome	VCV000977787	21	35286751	21	33914447	977787	965916	rs1987287870	NC_000021.9:33914446:T:C	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	9-Aug-20	"criteria provided, multiple submitters, no conflicts"						
NM_018684.4(ZC4H2):c.53+10513C>T	ZC4H2		Wieacker-Wolff syndrome	VCV000977759	X	64185692	X	64965812	977759	965890	rs1931569117	NC_000023.11:64965811:G:A	single nucleotide variant	intron variant	Likely pathogenic	9-Mar-20	"criteria provided, single submitter"						
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)	RAC3	G12R	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	VCV000977758	17	79989671	17	82031795	977758	965884	rs2043431490	NC_000017.11:82031794:G:C	single nucleotide variant	missense variant	Likely pathogenic	6-Nov-19	"criteria provided, single submitter"						
NM_000393.5(COL5A2):c.568-316_3525+41del	COL5A2		"Ehlers-Danlos syndrome, classic type, 2"	VCV000977757	2	189907405 - 189953814	2	189042679 - 189089088	977757	965875			Deletion	splice acceptor variant|splice donor variant	Likely pathogenic	6-Apr-20	"criteria provided, single submitter"						
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	MTSS2	R671W	MTSS2-related disorder|MTSS2-related neurodevelopmental disorder|Syndromic intellectual disability|not provided|not specified	VCV000977756	16	70697813	16	70663910	977756	965882	rs753688777	NC_000016.10:70663909:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Apr-24	"criteria provided, conflicting classifications"						
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly)	EZH1	"A638G, A669G, A678G, A684G"	EZH1-neurodevelopmental syndrome	VCV000977755	17	40855823	17	42703805	977755	965883	rs2053293877	NC_000017.11:42703804:G:C	single nucleotide variant	missense variant	Likely pathogenic		"criteria provided, single submitter"						
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)	GNB2	G77R	not provided|Neurodevelopmental disorder with hypotonia and dysmorphic facies|GNB2-related disorder	VCV000977754	7	100275000	7	100677377	977754	965878	rs1804373189	NC_000007.14:100677376:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	22-May-22	"criteria provided, conflicting classifications"						
NM_005677.4(COLQ):c.718-1276C>T	COLQ		Congenital myasthenic syndrome 5	VCV000977753	3	15509220	3	15467713	977753	965885	rs2062220124	NC_000003.12:15467712:G:A	single nucleotide variant	intron variant	Likely pathogenic	7-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_005677.4(COLQ):c.1212del (p.Cys405fs)	COLQ	"C371fs, C395fs, C405fs"	Congenital myasthenic syndrome 5	VCV000977752	3	15495422	3	15453915	977752	965876	rs771866680	NC_000003.12:15453914:G:	Deletion	frameshift variant	Pathogenic	2-Apr-20	"criteria provided, single submitter"						
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)	CARMIL2	"K559fs, K595fs"	Severe combined immunodeficiency due to CARMIL2 deficiency	VCV000977751	16	67683386	16	67649483	977751	965881	rs774594582	NC_000016.10:67649482:AA:A	Deletion	frameshift variant	Pathogenic	10-Apr-20	"criteria provided, single submitter"						
NM_001163435.3(TBCK):c.456-2A>G	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	VCV000977749	4	107173166	4	106252009	977749	965888	rs780527809	NC_000004.12:106252008:T:C	single nucleotide variant	splice acceptor variant	Likely pathogenic	12-Feb-20	"criteria provided, single submitter"						
NC_000004.12:g.106168703_106217941del	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	VCV000977748					977748	965887			Deletion		Pathogenic	12-Feb-20	"criteria provided, single submitter"						
NM_001032382.2(PQBP1):c.180-306G>A	PQBP1		Renpenning syndrome	VCV000977747	X	48758901	X	48901624	977747	965889	rs2063414930	NC_000023.11:48901623:G:A	single nucleotide variant	intron variant	Uncertain significance	10-Mar-20	"criteria provided, single submitter"						
NC_000004.12:g.1869269_1873124del	LOC129992015|LOC129992016|NSD2		Wolf-Hirschhorn like syndrome	VCV000977746	4	1870996 - 1874851	4	1869269 - 1873124	977746	965893			Deletion	genic upstream transcript variant	Uncertain significance	7-May-20	"criteria provided, single submitter"						
NM_001378452.1(ITPR1):c.5980-17G>A	ITPR1		Gillespie syndrome	VCV000977745	3	4816909	3	4775225	977745	965886	rs2046415471	NC_000003.12:4775224:G:A	single nucleotide variant	intron variant	Likely pathogenic	30-Jun-19	"criteria provided, single submitter"						
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)	IL6ST		"Hyper-IgE recurrent infection syndrome 1, autosomal dominant"	VCV000977744	5	55237546	5	55941718	977744	965877	rs1750932254	NC_000005.10:55941717:A:	Deletion	frameshift variant|3 prime UTR variant|non-coding transcript variant	Uncertain significance	6-Nov-18	"criteria provided, single submitter"						
NM_002775.5(HTRA1):c.835G>A (p.Val279Met)	HTRA1	V279M	"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided"	VCV000977743	10	124266264	10	122506748	977743	965880	rs745305935	NC_000010.11:122506747:G:A	single nucleotide variant	missense variant	Uncertain significance	1-Sep-21	"criteria provided, multiple submitters, no conflicts"						
NC_000017.11:g.59679324_59702065del	CLTC|LOC125177523|LOC126862609|LOC130061329|PTRH2		"Intellectual disability, autosomal dominant 56"	VCV000977742			17	59679324 - 59702065	977742	965892			Deletion		Likely pathogenic	1-Apr-20	"criteria provided, single submitter"						
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	AFG2B	G176V	Neurodevelopmental disorder with hearing loss and spasticity|Neurodevelopmental delay|AFG2B-related disorder|SPATA5L1-associated disorder|See cases|not provided	VCV000976779	15	45695154	15	45402956	976779	964864	rs145451123	NC_000015.10:45402955:G:T	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic/Likely pathogenic	1-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_183065.4(TMEM107):c.*609G>A	SNORD118|TMEM107		Leukoencephalopathy with calcifications and cysts	VCV000974788	17	8076912	17	8173594	974788	963084	rs200531412	NC_000017.11:8173593:C:T	single nucleotide variant	3 prime UTR variant|non-coding transcript variant	Likely pathogenic	30-Jan-20	"criteria provided, single submitter"						
NM_152419.3(HGSNAT):c.493+809T>C	HGSNAT		"Mucopolysaccharidosis, MPS-III-C"	VCV000974787	8	43014996	8	43159853	974787	963083	rs1042066401	NC_000008.11:43159852:T:C	single nucleotide variant	intron variant	Pathogenic	7-Feb-20	"criteria provided, single submitter"						
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala)	CTSA	"P479A, P462A"	Combined deficiency of sialidase AND beta galactosidase	VCV000974786	20	44527081	20	45898442	974786	963082	rs1411857412	NC_000020.11:45898441:C:G	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	17-Apr-19	"criteria provided, single submitter"						
NM_000308.4(CTSA):c.497del (p.Glu166fs)	CTSA	"E166fs, E149fs"	Combined deficiency of sialidase AND beta galactosidase	VCV000974785	20	44521416	20	45892777	974785	963081	rs1159382283	NC_000020.11:45892776:A:	Deletion	frameshift variant|non-coding transcript variant	Pathogenic	17-Apr-19	"criteria provided, single submitter"						
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)	CLCN6	"Y531C, Y553C"	"Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities|Motor delay|Global developmental delay|Hypotonia|EEG abnormality|Abnormality of the skin|Movement disorder|Feeding difficulties|Abnormality of the respiratory system|Abnormality of speech or vocalization|Abnormality of temperature regulation|Abnormality of vision|Neurogenic bladder"	VCV000974617	1	11894424	1	11834367	974617	962913	rs1644918844	NC_000001.11:11834366:A:G	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	28-Apr-21	"criteria provided, conflicting classifications"						
NR_003051.4(RMRP):n.17C>T	RMRP		"Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia"	VCV000967428	9	35658000	9	35658003	967428	955847	rs772664375	NC_000009.12:35658002:G:A	single nucleotide variant		Uncertain significance	2-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_144687.4(NLRP12):c.35G>A (p.Arg12His)	NLRP12	R12H	Familial cold autoinflammatory syndrome 2	VCV000936855	19	54327394	19	53824140	936855	938851	rs376754003	NC_000019.10:53824139:C:T	single nucleotide variant	missense variant	Uncertain significance	17-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala)	CDK19	"T196A, T136A"	CDK19-related disorder|Inborn genetic diseases	VCV000929847	6	110953293	6	110632090	929847	918166	rs1779473650	NC_000006.12:110632089:T:C	single nucleotide variant	missense variant|intron variant	Conflicting classifications of pathogenicity	8-Oct-21	"criteria provided, conflicting classifications"						
NM_183065.4(TMEM107):c.*745C>G	SNORD118|TMEM107		Leukoencephalopathy with calcifications and cysts|not provided	VCV000929265	17	8076776	17	8173458	929265	917588	rs746503581	NC_000017.11:8173457:G:C	single nucleotide variant	non-coding transcript variant|3 prime UTR variant	Conflicting classifications of pathogenicity	2-Jan-24	"criteria provided, conflicting classifications"						
NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD	A253fs	"Inborn genetic diseases|Idiopathic environmental intolerance|Peripheral neuropathy|Neuromuscular disease|not provided|Neuronopathy, distal hereditary motor, autosomal recessive 8"	VCV000929258	15	45361217	15	45069019	929258	917579	rs55901542	NC_000015.10:45069018:GGGGG:GGGG	Deletion	frameshift variant|non-coding transcript variant	Pathogenic/Likely pathogenic	26-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_003504.5(CDC45):c.1416C>T (p.His472=)	CDC45		Inborn genetic diseases|not provided	VCV000872335	22	19502547	22	19515024	872335	860699	rs190155337	NC_000022.11:19515023:C:T	single nucleotide variant	synonymous variant	Conflicting classifications of pathogenicity	5-Feb-24	"criteria provided, conflicting classifications"						
Single allele	IRAK1BP1|PHIP		PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	VCV000870652	6	78562075 - 79746800			870652	858814			Deletion		Pathogenic	20-Sep-19	"criteria provided, single submitter"						
NC_000014.9:g.35044389_35052476del	LOC130055485|FAM177A1|LOC130055483|LOC130055484|LOC130055482		FAM177A1-related disorder	VCV000870589	14	35513595 - 35521682	14	35044389 - 35052476	870589	858742			Deletion	genic upstream transcript variant	Likely pathogenic	31-Oct-19	"criteria provided, single submitter"						
NM_015338.6(ASXL1):c.1720-1G>A	ASXL1		Bohring-Opitz syndrome	VCV000870588	20	31022234	20	32434431	870588	858750	rs1254271466	NC_000020.11:32434430:G:A	single nucleotide variant	splice acceptor variant	Pathogenic	24-Jun-19	"criteria provided, multiple submitters, no conflicts"						
NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser)	SCN4A|GH-LCR	R1135S	"Hypokalemic periodic paralysis, type 2"	VCV000870587	17	62024443	17	63947083	870587	858744	rs1287863349	NC_000017.11:63947082:G:T	single nucleotide variant	missense variant	Likely pathogenic	12-Apr-19	"criteria provided, multiple submitters, no conflicts"						
NM_004937.3(CTNS):c.479del (p.Phe160fs)	CTNS|CTNS-AS1	"F13fs, F160fs"	Nephropathic cystinosis	VCV000870586	17	3559797	17	3656503	870586	858743	rs2076150607	NC_000017.11:3656502:TT:T	Deletion	frameshift variant	Pathogenic	28-Jun-19	"criteria provided, single submitter"						
NM_004937.3(CTNS):c.62-2864_225+2278del	CTNS		Nephropathic cystinosis	VCV000870585	17	3547870 - 3554499	17	3644576 - 3651205	870585	858749			Deletion	splice acceptor variant|splice donor variant|intron variant	Pathogenic	28-Jun-19	"criteria provided, single submitter"						
NM_003011.4(SET):c.340_341del (p.Glu114fs)	SET	"E103fs, E105fs, E114fs, E127fs"	"Intellectual disability, autosomal dominant 58"	VCV000870584	9	131455005 - 131455006	9	128692726 - 128692727	870584	858741	rs1861593395	NC_000009.12:128692725:AGA:A	Deletion	frameshift variant	Likely pathogenic	24-Sep-19	"criteria provided, single submitter"						
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)	AUTS2	A512fs	Autism spectrum disorder due to AUTS2 deficiency	VCV000870583	7	70231161 - 70231162	7	70766175 - 70766176	870583	858740	rs1789927813	NC_000007.14:70766175:GGGG:GGGGG	Duplication	frameshift variant	Pathogenic	9-Nov-18	"criteria provided, multiple submitters, no conflicts"						
NM_052867.4(NALCN):c.2579+5G>A	NALCN		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1|Inborn genetic diseases|not provided"	VCV000870580	13	101759833	13	101107482	870580	858748	rs2035187622	NC_000013.11:101107481:C:T	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	31-Mar-22	"criteria provided, conflicting classifications"						
NM_001395891.1(CLASP1):c.196-670T>C	CLASP1|RNU4ATAC		RNU4ATAC-related disorder|Roifman syndrome|not provided	VCV000870579	2	122288571	2	121530995	870579	858738	rs982261295	NC_000002.12:121530994:A:G	single nucleotide variant	non-coding transcript variant|intron variant	Likely pathogenic	18-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_031157.4(HNRNPA1):c.1063+15_*5-68del	HNRNPA1		HNRNPA1-related multisystem proteinopathy	VCV000870578	12	54677764 - 54678263	12	54283980 - 54284479	870578	858747	rs1944223180		Deletion	splice acceptor variant|splice donor variant	Uncertain significance	11-Nov-19	"criteria provided, single submitter"						
NC_000014.9:g.35077780_35087566del	FAM177A1|LOC101927178|PPP2R3C		FAM177A1-related disorder	VCV000870577	14	35546986 - 35556772	14	35077780 - 35087566	870577	858751			Deletion		Likely pathogenic	31-Oct-19	"criteria provided, single submitter"						
NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)	TOMM70	T607I	TOMM70-related neurodevelopmental disorder	VCV000870576	3	100084415	3	100365571	870576	858739	rs1706440222	NC_000003.12:100365570:G:A	single nucleotide variant	missense variant	Uncertain significance	10-Jan-20	"criteria provided, single submitter"						
NM_014727.3(KMT2B):c.118del (p.Ala40fs)	KMT2B	A40fs	"Dystonia 28, childhood-onset"	VCV000870575	19	36209035	19	35718133	870575	858745	rs1969024891	NC_000019.10:35718132:GGGG:GGG	Deletion	frameshift variant	Pathogenic	6-Mar-19	"criteria provided, single submitter"						
NM_001323289.2(CDKL5):c.2762_2763del (p.Thr921fs)	CDKL5	T921fs	CDKL5-related disorder	VCV000870574	X	18646754 - 18646755	X	18628634 - 18628635	870574	858746	rs1927146242	NC_000023.11:18628633:CACA:CA	Microsatellite	frameshift variant|intron variant	Likely pathogenic	23-Apr-20	"criteria provided, single submitter"						
NM_015909.4(NBAS):c.2423+404G>C	NBAS		Infantile liver failure syndrome 2	VCV000869408	2	15567431	2	15427307	869408	857627	rs1019313682	NC_000002.12:15427306:C:G	single nucleotide variant	intron variant	Likely pathogenic	13-Jun-22	"criteria provided, multiple submitters, no conflicts"						
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	HGSNAT	"R380C, R444C, R156C"	"Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C|not provided|Retinal dystrophy|not specified"	VCV000866424	8	43047526	8	43192383	866424	856589	rs763301637	NC_000008.11:43192382:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	28-Feb-23	"criteria provided, conflicting classifications"						
NM_003011.4(SET):c.663+5G>C	SET		"not provided|Intellectual disability, autosomal dominant 58"	VCV000860686	9	131456092	9	128693813	860686	851225	rs1861628072	NC_000009.12:128693812:G:C	single nucleotide variant	intron variant	Pathogenic	25-Feb-21	"criteria provided, multiple submitters, no conflicts"						
NM_007289.4(MME):c.202C>T (p.Arg68Ter)	MME	R68*	not provided|Charcot-Marie-Tooth disease axonal type 2T	VCV000851617	3	154832788	3	155114999	851617	827639	rs201692212	NC_000003.12:155114998:C:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	18-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_003334.4(UBA1):c.121A>G (p.Met41Val)	LOC126863253|UBA1	M41V	VEXAS syndrome|UBA1-related disorder|not provided|Inborn genetic diseases|Infantile-onset X-linked spinal muscular atrophy	VCV000836983	X	47058450	X	47199051	836983	850071	rs1936307795	NC_000023.11:47199050:A:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	5-Oct-23	"criteria provided, conflicting classifications"						
NM_002582.4(PARN):c.620+5G>A	PARN		"Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Familial Interstitial Pneumonia|Pulmonary fibrosis"	VCV000834005	16	14702910	16	14609053	834005	822291	rs1971361795	NC_000016.10:14609052:C:T	single nucleotide variant	intron variant	Likely pathogenic	8-Dec-23	no assertion criteria provided						
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)	SPOP	T25A	SPOP-related disorder|Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	VCV000830358	17	47700100	17	49622738	830358	818730	rs2072244773	NC_000017.11:49622737:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	10-Sep-20	"criteria provided, conflicting classifications"						
NM_001032221.6(STXBP1):c.246+2_325+14del	STXBP1		"Developmental and epileptic encephalopathy, 4"	VCV000827636	9	130420732 - 130422401	9	127658453 - 127660122	827636	815840			Deletion	splice acceptor variant|splice donor variant	Pathogenic	29-Jan-20	"criteria provided, single submitter"						
NM_001042424.3(NSD2):c.1642dup (p.Arg548fs)	NSD2	R548fs	not provided	VCV000817647	4	1936953 - 1936954	4	1935226 - 1935227	817647	805392	rs1577484648	NC_000004.12:1935226:AAAA:AAAAA	Duplication	frameshift variant	Pathogenic	27-Dec-18	"criteria provided, single submitter"						
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)	PPM1D	N512fs	not provided|Familial cancer of breast|Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	VCV000817626	17	58740624	17	60663263	817626	805968	rs763475304	NC_000017.11:60663262:AAAAAAA:AAAAAA	Deletion	frameshift variant	Pathogenic	4-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)	WWOX	"Q117P, Q230P"	"Early Infantile Epileptic Encephalopathy, Autosomal Recessive|Developmental and epileptic encephalopathy, 28|Malignant tumor of esophagus|WWOX-related disorder|Developmental and epileptic encephalopathy, 28|Autosomal recessive spinocerebellar ataxia 12|Malignant tumor of esophagus|not provided|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1|Abnormality of the nervous system"	VCV000813767	16	78458850	16	78424953	813767	802014		NC_000016.10:78424952:A:C	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	29-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_016146.6(TRAPPC4):c.454+3A>G	TRAPPC4		"Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy|Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies|not provided"	VCV000812649	11	118890966	11	119020256	812649	373902	rs375776811	NC_000011.10:119020255:A:G	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	16-Dec-22	"criteria provided, multiple submitters, no conflicts"						
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	UGP2	"M1V, M12V"	"D-6618|Developmental and epileptic encephalopathy, 83|not provided"	VCV000805980	2	64083454	2	63856320	805980	794316	rs768305634	NC_000002.12:63856319:A:G	single nucleotide variant	missense variant|initiator_codon_variant|5 prime UTR variant|intron variant	Pathogenic/Likely pathogenic	19-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_001110792.2(MECP2):c.63-73_1087del	MECP2		Rett syndrome	VCV000804290	X	153296228 - 153298081	X	154030777 - 154032630	804290	792646			Deletion	splice acceptor variant|splice donor variant|initiator_codon_variant	Pathogenic	18-Jan-18	"criteria provided, single submitter"						
NM_033453.4(ITPA):c.263+583_295+1203del	ITPA		"Developmental and epileptic encephalopathy, 35"	VCV000804289	20	3195287 - 3197161	20	3214641 - 3216515	804289	792645			Deletion	splice acceptor variant|splice donor variant	Pathogenic	5-Aug-19	"criteria provided, single submitter"						
NM_000459.5(TEK):c.578A>G (p.Tyr193Cys)	TEK	"Y193C, Y89C"	"Glaucoma 3, primary congenital, E"	VCV000804257	9	27169577	9	27169579	804257	792605	rs1587545234	NC_000009.12:27169578:A:G	single nucleotide variant	missense variant	Likely pathogenic	13-Sep-19	"criteria provided, single submitter"						
NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn)	CHRNA3	D230N	CHRNA3-related disorder	VCV000804256	15	78894296	15	78601954	804256	792608	rs777582527	NC_000015.10:78601953:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	17-May-19	"criteria provided, single submitter"						
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer)	FBXO11|MSH6		Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities|not provided	VCV000804255	2	48035355 - 48035356	2	47808216 - 47808217	804255	792598	rs1572753822	NC_000002.12:47808215:ACA:A	Deletion	frameshift variant	Pathogenic	21-Dec-21	"criteria provided, multiple submitters, no conflicts"						
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg)	HNRNPK	L68R	Au-Kline syndrome	VCV000804254	9	86591920	9	83977005	804254	792606	rs1588432187	NC_000009.12:83977004:A:C	single nucleotide variant	missense variant	Likely pathogenic	12-Jul-19	"criteria provided, single submitter"						
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe)	EIF2AK2	Y133F	"Inborn genetic diseases|EIF2AK2-related disorder|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	VCV000804253	2	37366892	2	37139749	804253	792596	rs1573029592	NC_000002.12:37139748:T:A	single nucleotide variant	missense variant	Uncertain significance	18-Dec-20	"criteria provided, multiple submitters, no conflicts"						
NM_170606.3(KMT2C):c.8026C>T (p.Gln2676Ter)	KMT2C	Q2676*	KMT2C-related disorder	VCV000804252	7	151874512	7	152177427	804252	792603	rs1587953116	NC_000007.14:152177426:G:A	single nucleotide variant	nonsense	Pathogenic	14-Aug-19	"criteria provided, single submitter"						
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)	CDH2	"Y645C, Y676C"	not provided|CDH2-related disorder	VCV000804251	18	25565146	18	27985182	804251	792610	rs199984052	NC_000018.10:27985181:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	11-Nov-22	"criteria provided, conflicting classifications"						
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)	WDR73	G295D	Galloway-Mowat syndrome 1	VCV000804250	15	85186954	15	84643723	804250	792609	rs1596048227	NC_000015.10:84643722:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Likely pathogenic	17-Jul-19	"criteria provided, single submitter"						
NM_177972.3(TUB):c.1215+1G>A	RIC3|TUB		Retinal dystrophy and obesity|not provided	VCV000804249	11	8122149	11	8100602	804249	792613	rs1589996458	NC_000011.10:8100601:G:A	single nucleotide variant	splice donor variant	Pathogenic/Likely pathogenic	1-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_001382508.1(DROSHA):c.3656A>G (p.Asp1219Gly)	DROSHA	"D1182G, D1219G"	DROSHA-related neurodevelopmental disorder	VCV000804248	5	31410864	5	31410757	804248	792599	rs1579987863	NC_000005.10:31410756:T:C	single nucleotide variant	missense variant	Uncertain significance	19-Aug-19	"criteria provided, single submitter"						
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)	SPTBN2	L426del	Spinocerebellar ataxia type 5	VCV000804247	11	66475684 - 66475686	11	66708213 - 66708215	804247	792607	rs1590955348	NC_000011.10:66708212:CAGC:C	Deletion	inframe_deletion	Likely pathogenic	26-Aug-19	"criteria provided, single submitter"						
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)	EIF2AK2	M11L	"EIF2AK2-related disorder|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	VCV000804246	2	37374919	2	37147776	804246	792597	rs1363544084	NC_000002.12:37147775:T:G	single nucleotide variant	missense variant	Uncertain significance	18-Dec-20	"criteria provided, multiple submitters, no conflicts"						
NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val)	EIF2AK1	"I447V, I448V"	EIF2AK1-related disorder	VCV000804245	7	6068654	7	6029023	804245	792604	rs1583476115	NC_000007.14:6029022:T:C	single nucleotide variant	missense variant	Uncertain significance	6-Sep-16	"criteria provided, single submitter"						
NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)	ADGRV1	G4171C	ADGRV1-related myoclonic epilepsy	VCV000804244	5	90072377	5	90776560	804244	792600	rs1581088032	NC_000005.10:90776559:G:T	single nucleotide variant	missense variant|non-coding transcript variant	Likely pathogenic	20-May-18	"criteria provided, single submitter"						
NM_019042.5(PUS7):c.398+1G>T	PUS7		"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature|Inborn genetic diseases"	VCV000804243	7	105148561	7	105508114	804243	792612	rs1264890888	NC_000007.14:105508113:C:A	single nucleotide variant	splice donor variant	Conflicting classifications of pathogenicity	21-Mar-22	"criteria provided, conflicting classifications"						
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	PUS7	"T387M, T393M"	"Inborn genetic diseases|not provided|Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	VCV000804242	7	105121514	7	105481067	804242	792602	rs916775904	NC_000007.14:105481066:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	21-Mar-22	"criteria provided, conflicting classifications"						
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)	ARHGEF9	"E247fs, E327fs, E364fs, E369fs, E376fs, E385fs, E392fs, E408fs, E429fs, E436fs, E442fs"	"Developmental and epileptic encephalopathy, 8"	VCV000804241	X	62875389	X	63655509	804241	792611	rs1602253296	NC_000023.11:63655508:CC:C	Deletion	frameshift variant|intron variant	Pathogenic	16-Aug-19	"criteria provided, multiple submitters, no conflicts"						
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala)	CITED2	"E234A, E239A"	Atrial septal defect 8	VCV000804240	6	139694381	6	139373244	804240	792601	rs1583066622	NC_000006.12:139373243:T:G	single nucleotide variant	missense variant	Likely pathogenic	15-Jul-18	"criteria provided, single submitter"						
NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly)	CACNA1E	V703G	"Developmental and epileptic encephalopathy, 69"	VCV000804239	1	181693639	1	181724503	804239	792595	rs1572706648	NC_000001.11:181724502:T:G	single nucleotide variant	missense variant	Uncertain significance	19-Jan-15	"criteria provided, single submitter"						
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)	TGFB1	Y171C	Diaphyseal dysplasia	VCV000803561	19	41854204	19	41348299	803561	791932	rs1599893542	NC_000019.10:41348298:T:C	single nucleotide variant	missense variant	Likely pathogenic	7-Dec-20	"criteria provided, multiple submitters, no conflicts"						
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	ANXA11	"D40Y, D7Y"	Amyotrophic lateral sclerosis type 23|not provided|Inclusion body myopathy and brain white matter abnormalities	VCV000802593	10	81930609	10	80170853	802593	790985	rs368751524	NC_000010.11:80170852:C:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	23-Feb-23	"criteria provided, multiple submitters, no conflicts"						
NM_015103.3(PLXND1):c.889G>A (p.Ala297Thr)	PLXND1	A297T	not provided	VCV000708071	3	129324594	3	129605751	708071	720163	rs376671922	NC_000003.12:129605750:C:T	single nucleotide variant	missense variant	Likely benign	31-Dec-19	"criteria provided, single submitter"						
NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)	RHOA	E47K	"not provided|neuro-ectodermal phenotype|Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies|Hemihypertrophy"	VCV000695069	3	49412884	3	49375451	695069	683186	rs1575653629	NC_000003.12:49375450:C:T	single nucleotide variant	missense variant|5 prime UTR variant|intron variant	Pathogenic	5-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NC_012920.1(MT-ND1):m.3502T>C	MT-ND1		"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke"	VCV000692361	MT	3502	MT	3502	692361	680897	rs1603218987	NC_012920.1:3501:T:C	single nucleotide variant		Likely pathogenic	11-Apr-22	"criteria provided, multiple submitters, no conflicts"						
NM_001086521.2(NDUFAF8):c.195+271C>T	NDUFAF8		"not provided|Mitochondrial complex 1 deficiency, nuclear type 34|Mitochondrial disease"	VCV000691642	17	79213749	17	81239949	691642	679359	rs745332456	NC_000017.11:81239948:C:T	single nucleotide variant	non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	1-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)	LOC102724058|SCN1A		"Generalized epilepsy with febrile seizures plus, type 2"	VCV000690430	2	166892781 - 166894616	2	166036271 - 166038106	690430	678116			Indel	splice acceptor variant|splice donor variant|non-coding transcript variant	Pathogenic	16-Mar-18	"criteria provided, single submitter"						
NM_170707.4(LMNA):c.1157+23_1158-45del	LMNA		LMNA-associated condition	VCV000689804	1	156105933 - 156105958	1	156136142 - 156136167	689804	677482	rs1572363509	NC_000001.11:156136141:GGAGGTGCTGGCAGTGTCCTCTGGCCGG:GG	Deletion	intron variant	Likely pathogenic	30-Jul-19	"criteria provided, single submitter"						
NM_000977.4(RPL13):c.477+1G>A	RPL13		"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	VCV000689802	16	89628800	16	89562392	689802	677478	rs1597675888	NC_000016.10:89562391:G:A	single nucleotide variant	splice donor variant	Pathogenic	27-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln)	PRNP		PRNP-associated condition	VCV000689659	20	4680025 - 4680026	20	4699379 - 4699380	689659	677337	rs193922906		Microsatellite	inframe_insertion	Pathogenic	30-Jul-19	"criteria provided, single submitter"						
NM_001161.5(NUDT2):c.186del (p.Ala63fs)	NUDT2	A63fs	NUDT2-associated condition|not provided|Intellectual developmental disorder with or without peripheral neuropathy|Complex neurodevelopmental disorder	VCV000689658	9	34343179	9	34343181	689658	677336	rs529087882	NC_000009.12:34343180:AA:A	Deletion	frameshift variant	Pathogenic/Likely pathogenic	28-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_176787.5(PIGN):c.1251+1G>A	PIGN		Multiple congenital anomalies-hypotonia-seizures syndrome 1	VCV000665474	18	59781793	18	62114560	665474	652910	rs1462805697	NC_000018.10:62114559:C:T	single nucleotide variant	splice donor variant	Pathogenic/Likely pathogenic	10-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)	CTNNA1	"R608*, R628*, R731*, R280*, R361*, R700*, R248*, R330*"	Hereditary cancer-predisposing syndrome|not provided	VCV000659725	5	138266342	5	138930653	659725	633430	rs1401839892	NC_000005.10:138930652:C:T	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	22-Jan-24	"criteria provided, conflicting classifications"						
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	TH	"R229C, R233C, R202C"	Autosomal recessive DOPA responsive dystonia	VCV000640660	11	2189136	11	2167906	640660	639867	rs1021029193	NC_000011.10:2167905:G:A	single nucleotide variant	missense variant	Likely pathogenic	27-Mar-23	"criteria provided, single submitter"						
NM_017827.4(SARS2):c.1055A>C (p.Glu352Ala)	SARS2	"E352A, E354A"	SARS2-associated condition	VCV000638612	19	39408469	19	38917829	638612	626379	rs1600163739	NC_000019.10:38917828:T:G	single nucleotide variant	missense variant	Likely pathogenic	30-Jul-19	"criteria provided, single submitter"						
NM_017827.4(SARS2):c.1347G>A (p.Thr449=)	SARS2		"Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome|SARS2-associated condition|not provided"	VCV000638611	19	39406677	19	38916037	638611	626378	rs200404654	NC_000019.10:38916036:C:T	single nucleotide variant	synonymous variant	Conflicting classifications of pathogenicity	10-Aug-22	"criteria provided, conflicting classifications"						
NM_001042424.3(NSD2):c.957G>T (p.Arg319Ser)	NSD2	R319S	NSD2-related disorder	VCV000638610	4	1919897	4	1918170	638610	626369	rs1577434780	NC_000004.12:1918169:G:T	single nucleotide variant	missense variant	Likely pathogenic	30-Jul-19	"criteria provided, single submitter"						
NM_030632.3(ASXL3):c.1082+1781_3039+950del	ASXL3		Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	VCV000638608	18	31316158 - 31321355	18	33736194 - 33741391	638608	626389			Deletion	splice acceptor variant|splice donor variant	Likely pathogenic	7-Mar-19	"criteria provided, single submitter"						
NM_138773.4(SLC25A46):c.385-852_385-739del	SLC25A46		SLC25A46-associated optic atrophy spectrum disorder	VCV000638604	5	110081115 - 110081228	5	110745414 - 110745527	638604	626387	rs1580858058		Deletion	intron variant	Likely pathogenic	5-Mar-19	"criteria provided, single submitter"						
NM_001163435.2(TBCK):c.2060-9050_2235+26133del	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	VCV000638602	4	107066118 - 107101467			638602	626386			Deletion		Likely pathogenic	26-Mar-19	"criteria provided, single submitter"						
NM_005591.4(MRE11):c.1500+1153_1563+1027del	MRE11		Ataxia-telangiectasia-like disorder 1	VCV000638600	11	94188415 - 94191421	11	94455249 - 94458255	638600	626385			Deletion	splice acceptor variant|splice donor variant	Likely pathogenic	13-Sep-18	"criteria provided, single submitter"						
NM_139058.3(ARX):c.196+129_1073+903del	ARX|LOC109610631		ARX-associated condition	VCV000638599	X	25030136 - 25033530	X	25012019 - 25015413	638599	626384			Deletion	splice acceptor variant|splice donor variant	Pathogenic	25-Mar-19	"criteria provided, single submitter"						
Single allele	KMT2C		Kleefstra syndrome 2	VCV000638598	7	151838641 - 151973850			638598	626383			Deletion		Likely pathogenic	15-Dec-17	"criteria provided, single submitter"						
NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro)	POC5	"A455P, A430P"	Scoliosis|not provided	VCV000638595	5	74981076	5	75685251	638595	626373	rs763910203	NC_000005.10:75685250:C:G	single nucleotide variant	missense variant	Uncertain significance	27-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_018133.4(MSL2):c.694_697del (p.Ser232fs)	MSL2	"S158fs, S232fs"	Autism	VCV000638594	3	135871026 - 135871029	3	136152184 - 136152187	638594	626368	rs1576352885	NC_000003.12:136152183:CAGACAGA:CAGA	Microsatellite	frameshift variant	Uncertain significance	16-Aug-18	"criteria provided, single submitter"						
NM_001163435.3(TBCK):c.659-1G>A	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	VCV000638592	4	107170140	4	106248983	638592	626380	rs1579391376	NC_000004.12:106248982:C:T	single nucleotide variant	splice acceptor variant	Pathogenic	26-Mar-19	"criteria provided, single submitter"						
NM_001042424.3(NSD2):c.2519G>T (p.Gly840Val)	NSD2	G840V	WHSC1-related disorder	VCV000638589	4	1957420	4	1955693	638589	626370	rs1577537810	NC_000004.12:1955692:G:T	single nucleotide variant	missense variant	Uncertain significance	20-Mar-19	"criteria provided, single submitter"						
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro)	SLC25A46	"L331P, L250P, L240P"	"SLC25A46-associated optic atrophy spectrum disorder|Neuropathy, hereditary motor and sensory, type 6B"	VCV000638588	5	110097217	5	110761517	638588	626371	rs1580870952	NC_000005.10:110761516:T:C	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	15-Jul-22	"criteria provided, conflicting classifications"						
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)	ALMS1	"Y1582*, Y1581*"	Alstrom syndrome	VCV000638587	2	73678397	2	73451270	638587	626367	rs1572935708	NC_000002.12:73451269:C:G	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	9-Aug-22	"criteria provided, multiple submitters, no conflicts"						
NM_004006.3(DMD):c.9974+175T>A	DMD		Duchenne muscular dystrophy	VCV000638586	X	31200680	X	31182563	638586	626382	rs1602451773	NC_000023.11:31182562:A:T	single nucleotide variant	intron variant	Pathogenic	5-Mar-19	"criteria provided, single submitter"						
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs)	GATAD2B	K224fs	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	VCV000638585	1	153790575 - 153790578	1	153818099 - 153818102	638585	626365	rs1570929072	NC_000001.11:153818098:TAGATAG:TAG	Deletion	frameshift variant	Pathogenic	18-Mar-19	"criteria provided, single submitter"						
NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter)	PSMD12	"E345*, E325*, E286*"	Stankiewicz-Isidor syndrome	VCV000638584	17	65340772	17	67344656	638584	626376	rs1403781576	NC_000017.11:67344655:C:A	single nucleotide variant	nonsense	Pathogenic	4-Sep-18	"criteria provided, single submitter"						
NM_017934.7(PHIP):c.3656+1242A>T	IRAK1BP1|PHIP		PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	VCV000638583	6	79670165	6	78960448	638583	626381	rs1582111930	NC_000006.12:78960447:T:A	single nucleotide variant	intron variant	Pathogenic	29-Jan-19	"criteria provided, single submitter"						
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	CACNA1A	"R1667P, R1672P, R1666P, R1669P"	"Inborn genetic diseases|Developmental and epileptic encephalopathy, 52|Spinocerebellar ataxia type 6|Migraine, familial hemiplegic, 1|Episodic ataxia type 2|CACNA1A-related disorder|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2"	VCV000638582	19	13346498	19	13235684	638582	626377	rs1568447650	NC_000019.10:13235683:C:G	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	20-Mar-22	"criteria provided, multiple submitters, no conflicts"						
NM_024700.4(SNIP1):c.332G>A (p.Arg111His)	LOC126805704|SNIP1	R111H	not provided|Predisposition to dissection	VCV000638581	1	38006352	1	37540751	638581	626366	rs41267307	NC_000001.11:37540750:C:T	single nucleotide variant	missense variant	Uncertain significance	24-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)	SMN1	K93T	Kugelberg-Welander disease	VCV000638580	5	70238189	5	70942362	638580	626372	rs1580886828	NC_000005.10:70942361:A:C	single nucleotide variant	missense variant	Uncertain significance	3-Apr-19	"criteria provided, single submitter"						
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)	TONSL|TONSL-AS1	V613L	TONSL-related disorder	VCV000638579	8	145662193	8	144436810	638579	626374	rs778625348	NC_000008.11:144436809:C:A	single nucleotide variant	non-coding transcript variant|missense variant	Uncertain significance	4-Nov-16	"criteria provided, single submitter"						
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter)	TONSL	W110*	TONSL-related disorder	VCV000638578	8	145668640	8	144443257	638578	626375	rs1002531030	NC_000008.11:144443256:C:T	single nucleotide variant	nonsense	Uncertain significance	4-Nov-16	"criteria provided, single submitter"						
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)	TONSL	E199K	not provided|TONSL-related disorder	VCV000638067	8	145667779	8	144442396	638067	625908	rs1335783881	NC_000008.11:144442395:C:T	single nucleotide variant	missense variant	Uncertain significance	19-Aug-22	"criteria provided, multiple submitters, no conflicts"						
NM_013432.5(TONSL):c.866-1G>C	TONSL		TONSL-related disorder	VCV000638066	8	145666495	8	144441112	638066	625907	rs1424148372	NC_000008.11:144441111:C:G	single nucleotide variant	splice acceptor variant	Uncertain significance	1-Nov-16	"criteria provided, single submitter"						
NM_004204.5(PIGQ):c.49G>A (p.Gly17Arg)	PIGQ	G17R	PIGQ-related disorder	VCV000636279	16	624123	16	574123	636279	624091	rs149108761	NC_000016.10:574122:G:A	single nucleotide variant	missense variant	Uncertain significance	25-May-18	"criteria provided, single submitter"						
NM_001352754.2(ARMC9):c.-41-2521_177+2986del	ARMC9		Joubert syndrome 30	VCV000636278	2	232068390 - 232075951	2	231203677 - 231211238	636278	624090			Deletion	splice acceptor variant|splice donor variant|initiator_codon_variant	Uncertain significance	7-Jan-19	"criteria provided, single submitter"						
NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG	RORA|RORA-AS1		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	VCV000636257	15	60797822 - 60797845	15	60505623 - 60505646	636257	624068	rs1595874995	NC_000015.10:60505622:AGGTGTTCTAAGGAGAAAACGGGA:CAAACACGAAAGC	Indel	splice acceptor variant	Likely pathogenic	25-Jan-19	"criteria provided, single submitter"						
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)	OPHN1	R454K	X-linked intellectual disability-cerebellar hypoplasia syndrome	VCV000636256	X	67339090	X	68119248	636256	624064	rs1602169116	NC_000023.11:68119247:C:T	single nucleotide variant	missense variant	Likely pathogenic	5-Dec-18	"criteria provided, single submitter"						
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr)	DDC	"S149T, S111T, S71T"	Deficiency of aromatic-L-amino-acid decarboxylase	VCV000636255	7	50597030	7	50529332	636255	624052	rs971183744	NC_000007.14:50529331:C:G	single nucleotide variant	missense variant|intron variant	Conflicting classifications of pathogenicity	11-Apr-22	"criteria provided, conflicting classifications"						
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu)	POLR3A	S467L	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	VCV000636254	10	79777364	10	78017606	636254	624053	rs1589316371	NC_000010.11:78017605:G:A	single nucleotide variant	missense variant	Uncertain significance	30-Jan-19	"criteria provided, single submitter"						
NM_002184.4(IL6ST):c.1552+3A>C	IL6ST		GP130-deficient hyper-IgE syndrome|not provided	VCV000636253	5	55248075	5	55952247	636253	624066	rs1580801563	NC_000005.10:55952246:T:G	single nucleotide variant	intron variant	Uncertain significance	6-Sep-22	"criteria provided, multiple submitters, no conflicts"						
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro)	IL6ST	"A517P, A185P, A216P, A228P, A447P, A456P"	not provided|GP130-deficient hyper-IgE syndrome	VCV000636252	5	55248081	5	55952253	636252	624051	rs1381682599	NC_000005.10:55952252:C:G	single nucleotide variant	non-coding transcript variant|intron variant|missense variant|3 prime UTR variant	Uncertain significance	8-Mar-23	"criteria provided, multiple submitters, no conflicts"						
NM_017534.6(MYH2):c.5673+1G>C	MYHAS|MYH2		"MYH2-related disorder|Myopathy, proximal, and ophthalmoplegia"	VCV000636251	17	10426406	17	10523089	636251	624069	rs1400481053	NC_000017.11:10523088:C:G	single nucleotide variant	splice donor variant	Pathogenic/Likely pathogenic	22-May-23	"criteria provided, multiple submitters, no conflicts"						
NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg)	NBEA	"G1967R, G1964R"	NBEA-related developmental delay and generalized epilepsy	VCV000636250	13	35883725	13	35309588	636250	624056	rs1594162606	NC_000013.11:35309587:G:A	single nucleotide variant	missense variant	Likely pathogenic	3-Jan-19	"criteria provided, single submitter"						
NM_001257180.2(SLC20A2):c.935-2A>G	SLC20A2		not provided|Idiopathic basal ganglia calcification 1	VCV000636249	8	42295097	8	42437579	636249	624067	rs1586025869	NC_000008.11:42437578:T:C	single nucleotide variant	splice acceptor variant	Pathogenic/Likely pathogenic	29-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val)	TOP3A	"M575V, M480V"	"Inborn genetic diseases|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"	VCV000636248	17	18188610	17	18285296	636248	624060	rs372121045	NC_000017.11:18285295:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	29-Jun-23	"criteria provided, conflicting classifications"						
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)	TOP3A	"Y205fs, Y300fs"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"	VCV000636247	17	18205214 - 18205215	17	18301900 - 18301901	636247	624061	rs1597981046	NC_000017.11:18301899:ATA:A	Deletion	frameshift variant	Likely pathogenic	6-Dec-18	"criteria provided, single submitter"						
NM_032638.5(GATA2):c.839del (p.Pro280fs)	GATA2	P280fs	Monocytopenia with susceptibility to infections	VCV000636246	3	128204602	3	128485759	636246	624050	rs1576748366	NC_000003.12:128485758:GGGG:GGG	Deletion	frameshift variant	Pathogenic	27-Nov-18	"criteria provided, single submitter"						
NM_024580.6(EFL1):c.1971C>G (p.His657Gln)	EFL1	"H657Q, H606Q, H394Q"	Shwachman-Diamond syndrome 2	VCV000636245	15	82450113	15	82157772	636245	624058	rs779232326	NC_000015.10:82157771:G:C	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	2-Oct-18	"criteria provided, single submitter"						
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn)	EFL1	"I411N, I360N, I148N"	Shwachman-Diamond syndrome 2|not provided	VCV000636244	15	82517566	15	82225225	636244	624059	rs775430621	NC_000015.10:82225224:A:T	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	15-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_001163435.3(TBCK):c.1860+1G>A	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided"	VCV000636243	4	107133906	4	106212749	636243	624065	rs1303851095	NC_000004.12:106212748:C:T	single nucleotide variant	splice donor variant	Pathogenic	2-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter)	AMER1	Q189*	Osteopathia striata with cranial sclerosis	VCV000636242	X	63412602	X	64192722	636242	624063	rs1602068260	NC_000023.11:64192721:G:A	single nucleotide variant	nonsense	Pathogenic	1-Feb-22	"criteria provided, multiple submitters, no conflicts"						
NM_001352754.2(ARMC9):c.725T>A (p.Ile242Asn)	ARMC9	I242N	Joubert syndrome 30|not provided	VCV000636241	2	232100039	2	231235326	636241	624048	rs147777576	NC_000002.12:231235325:T:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	26-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser)	CIT	"N1164S, N1122S"	"not provided|CIT-related disorder|Microcephaly 17, primary, autosomal recessive"	VCV000636240	12	120166407	12	119728602	636240	624054	rs145731510	NC_000012.12:119728601:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	11-Jan-24	"criteria provided, conflicting classifications"						
NM_001206999.2(CIT):c.652G>A (p.Val218Met)	CIT	V218M	"Microcephaly 17, primary, autosomal recessive"	VCV000636239	12	120271897	12	119834093	636239	624055	rs777293258	NC_000012.12:119834092:C:T	single nucleotide variant	missense variant	Uncertain significance	11-Jan-19	"criteria provided, single submitter"						
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn)	MAP2K1	Y130N	Cardiofaciocutaneous syndrome 3	VCV000636238	15	66729180	15	66436842	636238	624057	rs397516793	NC_000015.10:66436841:T:A	single nucleotide variant	missense variant	Pathogenic	13-Jul-18	"criteria provided, single submitter"						
NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser)	SPTBN1	"G205S, G192S"	SPTBN1-related neurodevelopmental disease	VCV000636237	2	54844791	2	54617654	636237	624049	rs1572690133	NC_000002.12:54617653:G:A	single nucleotide variant	missense variant	Uncertain significance	6-Feb-19	"criteria provided, single submitter"						
NM_004793.4(LONP1):c.1694A>G (p.Tyr565Cys)	LONP1	"Y565C, Y501C, Y369C"	LONP1-related disorder	VCV000636236	19	5696760	19	5696749	636236	624062	rs1599450036	NC_000019.10:5696748:T:C	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	7-Feb-19	"criteria provided, single submitter"						
Single allele	KCNC4|LAMTOR5|KCNA10|KCNA2|MYBPHL|MIR197|NBPF4|GSTM5|HENMT1|GSTM2|GSTM3|GSTM4|NBPF6|NTNG1|PROK1|PRPF38B|PSMA5|PSRC1|RBM15|SARS1|SLC16A4|SLC25A24|SLC6A17|SORT1|STRIP1|STXBP3|SYPL2|TAF13|TMEM167B|UBL4B|VAV3|WDR47|AHCYL1|AKNAD1|ALX3|AMIGO1|AMPD2|ATXN7L2|CELSR2|CFAP276|CLCC1|CSF1|CYB561D1|EEIG2|ELAPOR1|EPS8L3|FNDC7|GNAI3|GNAT2|GPR61|GPSM2|GSTM1		1p13.3 deletion syndrome	VCV000635280	1	107779092 - 111199205			635280	623114			Deletion		Likely pathogenic	6-Jun-19	"criteria provided, single submitter"						
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)	UBAP1	"K207fs, K179fs, K143fs"	"Spastic paraplegia 80, autosomal dominant|not provided"	VCV000627552	9	34241448 - 34241449	9	34241450 - 34241451	627552	615907	rs1563920252	NC_000009.12:34241449:AGA:A	Deletion	frameshift variant|non-coding transcript variant	Conflicting classifications of pathogenicity	4-Mar-23	"criteria provided, conflicting classifications"						
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	LOC130005368|RRAS2		Noonan syndrome 12|Inborn genetic diseases|Noonan syndrome|not provided	VCV000626913	11	14380338 - 14380339	11	14358792 - 14358793	626913	615264	rs1591495767	NC_000011.10:14358792:GCCCACGCCGCCC:GCCCACGCCGCCCACGCCGCCC	Duplication	intron variant|inframe_insertion	Pathogenic	5-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)	IRF2BPL	Q167*	"Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures|IRF2BPL-related disorder|not provided"	VCV000620458	14	77493637	14	77027294	620458	611788	rs1566786613	NC_000014.9:77027293:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	1-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_006003.3(UQCRFS1):c.215-1G>C	UQCRFS1		Propionic acidemia|Lactic acidosis|Cardiomyopathy	VCV000619297	19	29699066	19	29208159	619297	610695	rs1568344751	NC_000019.10:29208158:C:G	single nucleotide variant	splice acceptor variant	Pathogenic	27-Feb-19	"criteria provided, single submitter"						
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)	BLK	"R359C, R288C"	not specified|Maturity-onset diabetes of the young type 11|BLK-related disorder|not provided	VCV000619205	8	11418856	8	11561347	619205	610608	rs146505280	NC_000008.11:11561346:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	7-Jan-24	"criteria provided, conflicting classifications"						
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	FCSK	R683C	Congenital disorder of glycosylation with defective fucosylation 2|not provided	VCV000619034	16	70508489	16	70474586	619034	610432	rs755169246	NC_000016.10:70474585:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	20-Mar-23	"criteria provided, conflicting classifications"						
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	FCSK	S223P	Congenital disorder of glycosylation with defective fucosylation 2	VCV000619033	16	70502755	16	70468852	619033	610431	rs769009456	NC_000016.10:70468851:T:C	single nucleotide variant	missense variant	Uncertain significance	21-Mar-22	"criteria provided, multiple submitters, no conflicts"						
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)	ALPK1	"T237M, T159M"	"not provided|Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome|ALPK1-related disorder"	VCV000619031	4	113348736	4	112427580	619031	610429	rs1052954321	NC_000004.12:112427579:C:T	single nucleotide variant	missense variant	Pathogenic	11-Feb-24	"criteria provided, multiple submitters, no conflicts"						
Single allele	SLC12A2		Kilquist syndrome	VCV000617506	5	127441491 - 127471419			617506	608866			Deletion		Pathogenic	1-Jan-19	"criteria provided, single submitter"						
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter)	NR2F2	"W249*, W116*, W96*"	"Congenital heart defects, multiple types, 4"	VCV000598763	15	96877608	15	96334379	598763	589805	rs1567138573	NC_000015.10:96334378:G:A	single nucleotide variant	nonsense	Uncertain significance	13-Sep-18	"criteria provided, single submitter"						
NG_012337.3(SDHD):g.11847_14024del	SDHD		Paragangliomas 1	VCV000598762	11	111964415 - 111966592	11	112093691 - 112095868	598762	589823			Deletion		Pathogenic	24-Jan-20	"criteria provided, single submitter"						
Single allele	ZC4H2		Wieacker-Wolff syndrome	VCV000598761	X	64171841 - 64267316			598761	589822			Deletion		Pathogenic	15-Jun-17	"criteria provided, single submitter"						
NC_000005.10:g.88846693_89051376delinsG	LOC129994186|MEF2C|MEF2C-AS1		"Intellectual disability, autosomal dominant 20"	VCV000598760	5	88142510 - 88347193	5	88846693 - 89051376	598760	589802			Indel		Pathogenic	11-Aug-17	"criteria provided, single submitter"						
NM_178526.5(SLC25A42):c.309C>G (p.Tyr103Ter)	SLC25A42	Y103*	SLC25A42-related mitochondrial encephalomyopathy	VCV000598758	19	19216465	19	19105656	598758	589811	rs1568523935	NC_000019.10:19105655:C:G	single nucleotide variant	nonsense	Likely pathogenic	5-Oct-18	"criteria provided, single submitter"						
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs)	DYRK1A	"N68fs, N39fs"	DYRK1A-related intellectual disability syndrome	VCV000598757	21	38845171 - 38845174	21	37472869 - 37472872	598757	589813	rs1569355102	NC_000021.9:37472868:CTAACTAAC:CTAAC	Microsatellite	frameshift variant	Pathogenic	22-Sep-22	"criteria provided, multiple submitters, no conflicts"						
NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	AIFM1|RAB33A		"Inborn genetic diseases|AIFM1-related hypomyelination with spondylometaphyseal dysplasia|Spondyloepimetaphyseal dysplasia, Bieganski type"	VCV000598756	X	129274569	X	130140594	598756	589814	rs1569418673	NC_000023.11:130140593:G:A	single nucleotide variant	synonymous variant|non-coding transcript variant	Conflicting classifications of pathogenicity	1-Jun-20	"criteria provided, conflicting classifications"						
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln)	RNASEH2A	H285Q	Aicardi-Goutieres syndrome 4	VCV000598755	19	12924235	19	12813421	598755	589810	rs1568388876	NC_000019.10:12813420:C:G	single nucleotide variant	missense variant	Uncertain significance	6-Sep-18	"criteria provided, single submitter"						
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)	COL2A1	"K679*, K610*"	Stickler syndrome type 1	VCV000598754	12	48377182	12	47983399	598754	589804	rs1565679039	NC_000012.12:47983398:T:A	single nucleotide variant	nonsense	Pathogenic	27-Mar-18	"criteria provided, single submitter"						
NM_000043.6(FAS):c.197-2A>G	FAS		Autoimmune lymphoproliferative syndrome type 1	VCV000598753	10	90767455	10	89007698	598753	589803	rs1564691414	NC_000010.11:89007697:A:G	single nucleotide variant	splice acceptor variant	Likely pathogenic	21-Mar-24	no assertion criteria provided						
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle)	CTNNB1		Severe intellectual disability-progressive spastic diplegia syndrome	VCV000598752	3	41268778 - 41268787	3	41227287 - 41227296	598752	589801	rs1559470315	NC_000003.12:41227286:CCACAAGCAG:T	Indel	inframe_indel	Likely pathogenic	17-Jul-18	"criteria provided, single submitter"						
Single allele	CDRT15|CDRT4|COX10|FBXW10B|HS3ST3B1|PMP22|TEKT3|TVP23C|TVP23C-CDRT4		"Charcot-Marie-Tooth disease, type IA"	VCV000598751	17	14087933 - 15500645			598751	589820			Duplication		Pathogenic	26-Jun-18	"criteria provided, single submitter"						
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs)	ASXL1	"Q428fs, Q367fs"	Bohring-Opitz syndrome	VCV000598750	20	31021284 - 31021285	20	32433481 - 32433482	598750	589812	rs1569324457	NC_000020.11:32433480:AG:	Deletion	frameshift variant	Pathogenic	14-May-18	"criteria provided, single submitter"						
Single allele	CKMT1B|STRC|CATSPER2		Deafness-infertility syndrome	VCV000598749	15	43890409 - 43939642			598749	589819			Deletion		Pathogenic	14-Nov-17	"criteria provided, single submitter"						
Single allele	LRSAM1|NIBAN2|STXBP1		"Developmental and epileptic encephalopathy, 4"	VCV000598748	9	130248090 - 130388197			598748	589818			Deletion		Pathogenic	23-Oct-17	"criteria provided, single submitter"						
NM_003108.4(SOX11):c.293del (p.Phe98fs)	SOX11	F98fs	"Intellectual disability, autosomal dominant 27"	VCV000598747	2	5833145	2	5693013	598747	589817	rs1558373252	NC_000002.12:5693012:TT:T	Deletion	frameshift variant	Likely pathogenic	21-Sep-18	"criteria provided, single submitter"						
Single allele	P2RX5|TRPV1|TRPV3|SHPK|TAX1BP3|ASPA|CTNS|EMC6|HASPIN|ITGAE		TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy	VCV000598746	17	3394299 - 3632836			598746	589816			Deletion		Likely pathogenic	27-Nov-18	"criteria provided, single submitter"						
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)	TAX1BP3|P2RX5-TAX1BP3	M78T	Primary familial dilated cardiomyopathy|TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy	VCV000598745	17	3567493	17	3664199	598745	589807	rs1307997067	NC_000017.11:3664198:A:G	single nucleotide variant	non-coding transcript variant|missense variant|intron variant	Conflicting classifications of pathogenicity	16-Apr-20	"criteria provided, conflicting classifications"						
NM_014738.6(TMEM94):c.765-1G>C	TMEM94		TMEM94-related disorder	VCV000598744	17	73485346	17	75489265	598744	589808	rs1352010373	NC_000017.11:75489264:G:C	single nucleotide variant	splice acceptor variant	Pathogenic	16-Mar-18	"criteria provided, single submitter"						
NM_014738.6(TMEM94):c.2605dup (p.Met869fs)	TMEM94	"M853fs, M869fs, M873fs, M879fs, M878fs"	TMEM94-related disorder	VCV000598743	17	73490986 - 73490987	17	75494905 - 75494906	598743	589809	rs1163944538	NC_000017.11:75494905:AAAAAA:AAAAAAA	Duplication	frameshift variant	Pathogenic	16-Mar-18	"criteria provided, single submitter"						
Single allele	TGFB1I1|TRIM72|ZNF764|ZNF785|ZNF843|VKORC1|ZNF629|ZNF646|ZNF668|ZNF688|ZNF689|ARMC5|BCKDK|BCL7C|CFAP119|COX6A2|CTF1|FBRS|FBXL19|FUS|HSD3B7|ITGAD|ITGAM|ITGAX|KAT8|ORAI3|PHKG2|PRR14|PRSS36|PRSS53|PRSS8|PYCARD|PYDC1|RNF40|RUSF1|SETD1A|SLC5A2|SRCAP|STX1B|STX4		Branched-chain keto acid dehydrogenase kinase deficiency	VCV000598742	16	30554158 - 31536880			598742	589815			Deletion		Uncertain significance	16-Mar-18	"criteria provided, single submitter"						
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)	MAPK8IP3	Y37*	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA|MAPK8IP3-related disorder	VCV000598741	16	1756451	16	1706450	598741	589806	rs770703007	NC_000016.10:1706449:C:G	single nucleotide variant	nonsense	Likely pathogenic	2-Oct-19	"criteria provided, multiple submitters, no conflicts"						
NM_002437.5(MPV17):c.376-9T>G	MPV17|TRIM54|UCN		"MPV17-related mitochondrial DNA maintenance defect|not provided|Charcot-Marie-Tooth disease, axonal, type 2EE"	VCV000593343	2	27535123	2	27312255	593343	584407	rs368900406	NC_000002.12:27312254:A:C	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	10-Dec-23	"criteria provided, conflicting classifications"						
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	TRAF7	R655Q	"Inborn genetic diseases|TRAF7-related syndrome|TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome|Cardiac, facial, and digital anomalies with developmental delay|not provided"	VCV000587685	16	2226351	16	2176350	587685	578643	rs1331463984	NC_000016.10:2176349:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	29-Jun-23	"criteria provided, conflicting classifications"						
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)	SELENON	"G371D, G337D"	Eichsfeld type congenital muscular dystrophy|See cases|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|not provided	VCV000586530	1	26138201	1	25811710	586530	576535	rs745886248	NC_000001.11:25811709:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	20-Jul-23	"criteria provided, conflicting classifications"						
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)	ZNF292	"I470V, I330V"	"Intellectual developmental disorder, autosomal dominant 64|Neurodevelopmental disorder"	VCV000585155	6	87964755	6	87255037	585155	576122	rs1166797338	NC_000006.12:87255036:A:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	14-Dec-23	no assertion criteria provided						
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met)	PKD1	T2409M	"not provided|Polycystic kidney disease, adult type"	VCV000584459	16	2156662	16	2106661	584459	575501	rs1446061270	NC_000016.10:2106660:G:A	single nucleotide variant	missense variant	Uncertain significance	20-Mar-23	"criteria provided, multiple submitters, no conflicts"						
NM_000214.3(JAG1):c.2113+1G>T	JAG1		Alagille syndrome due to a JAG1 point mutation	VCV000584458	20	10626003	20	10645355	584458	575505	rs1294950721	NC_000020.11:10645354:C:A	single nucleotide variant	splice donor variant	Pathogenic	20-Jul-17	"criteria provided, single submitter"						
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)	FA2H|LOC130059394	G45W	Hereditary spastic paraplegia 35	VCV000584457	16	74808521	16	74774623	584457	575502	rs1247665387	NC_000016.10:74774622:C:A	single nucleotide variant	missense variant	Likely pathogenic	27-Jan-21	"criteria provided, multiple submitters, no conflicts"						
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)	AUTS2	H535Y	Autism spectrum disorder due to AUTS2 deficiency	VCV000584456	7	70231234	7	70766248	584456	575490	rs1563183492	NC_000007.14:70766247:C:T	single nucleotide variant	missense variant	Likely pathogenic	1-Mar-18	"criteria provided, single submitter"						
Single allele	LOC130009384|LOC130009385|MIPEP		Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	VCV000584455	13	24373720 - 24409414	13	23799617 - 23835311	584455	575516			Deletion		Likely pathogenic	4-Jan-18	"criteria provided, single submitter"						
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)	MIPEP	D120N	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	VCV000584454	13	24460477	13	23886338	584454	575498	rs780533096	NC_000013.11:23886337:C:T	single nucleotide variant	missense variant	Likely pathogenic	4-Jan-18	"criteria provided, single submitter"						
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs)	MECP2	"A141fs, A234fs, A246fs, A11fs"	Rett syndrome	VCV000584453	X	153296004 - 153296578	X	154030553 - 154031127	584453	575515	rs1569548274		Deletion	frameshift variant	Pathogenic	1-Nov-17	"criteria provided, single submitter"						
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs)	IRF2BPL	A708fs	IRF2BPL-related disorder|not provided	VCV000584452	14	77492014	14	77025671	584452	575499	rs1566785444	NC_000014.9:77025670:CC:C	Deletion	frameshift variant	Pathogenic/Likely pathogenic	20-May-22	"criteria provided, multiple submitters, no conflicts"						
NM_001163435.3(TBCK):c.2060_2235+1del	TBCK		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	VCV000584451	4	107092251 - 107092427	4	106171094 - 106171270	584451	575514	rs1560755661		Deletion	splice acceptor variant|splice donor variant	Pathogenic	26-Jun-18	"criteria provided, single submitter"						
NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs)	HSPB8	Y174fs	Distal myopathy|Motor neuropathy	VCV000584450	12	119631592 - 119631605	12	119193787 - 119193800	584450	575496	rs1565930588	NC_000012.12:119193786:TACTCAACATTTGG:	Deletion	frameshift variant	Likely pathogenic	30-Oct-17	"criteria provided, single submitter"						
NM_080425.4(GNAS):c.1422C>T (p.Pro474=)	GNAS	P412L	GNAS-related disorder|Pseudopseudohypoparathyroidism	VCV000584449	20	57429742	20	58854687	584449	575506	rs532475771	NC_000020.11:58854686:C:T	single nucleotide variant	missense variant|synonymous variant|intron variant	Conflicting classifications of pathogenicity	13-Nov-19	"criteria provided, conflicting classifications"						
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1	ARID1B|LOC123881345		Coffin-Siris syndrome 1	VCV000584448	6	157500306 - 157506050	6	157179172 - 157184916	584448	575513			copy number loss		Likely pathogenic	30-Oct-17	"criteria provided, single submitter"						
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	SLC20A2	E459*	Idiopathic basal ganglia calcification 1	VCV000584447	8	42294655	8	42437137	584447	575491	rs1563452941	NC_000008.11:42437136:C:A	single nucleotide variant	nonsense	Pathogenic	18-May-18	"criteria provided, single submitter"						
NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln)	CAPN1	R481Q	Autosomal recessive spastic paraplegia type 76	VCV000584446	11	64974022	11	65206551	584446	575494	rs763471308	NC_000011.10:65206550:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	1-Jun-18	"criteria provided, single submitter"						
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)	WAC	"R513*, R468*, R410*"	not provided|DeSanto-Shinawi syndrome due to WAC point mutation	VCV000584445	10	28903595	10	28614666	584445	575493	rs1564421528	NC_000010.11:28614665:C:T	single nucleotide variant	nonsense	Pathogenic	5-Dec-22	"criteria provided, multiple submitters, no conflicts"						
NM_002725.4(PRELP):c.778G>A (p.Gly260Arg)	PRELP	G260R	PRELP-related osteosclerosis	VCV000584444	1	203453090	1	203483962	584444	575486	rs137872837	NC_000001.11:203483961:G:A	single nucleotide variant	missense variant	Uncertain significance	19-Mar-18	"criteria provided, single submitter"						
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)	LOC126653398|TSPEAR|TSPEAR-AS1	"V508fs, V576fs"	"TSPEAR-related disorder of tooth and hair follicle morphogenesis|Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis|not provided"	VCV000584443	21	45929108 - 45929110	21	44509225 - 44509227	584443	575507	rs1569151872	NC_000021.9:44509224:GAC:AA	Indel	frameshift variant	Pathogenic/Likely pathogenic	22-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)	TRIM8	"Q459*, Q427*"	TRIM8-related epileptic encephalopathy|not provided|Focal segmental glomerulosclerosis and neurodevelopmental syndrome|Inborn genetic diseases	VCV000584442	10	104416830	10	102657073	584442	575492	rs866294686	NC_000010.11:102657072:C:T	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic/Likely pathogenic	22-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_145207.3(AFG2A):c.164-1053_446+1328dup	AFG2A		Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	VCV000584441	4	123847734 - 123847735	4	122926579 - 122926580	584441	575512			Duplication	splice acceptor variant|splice donor variant	Likely pathogenic	18-Apr-18	"criteria provided, single submitter"						
NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC	PLA2G6|LOC112695092|LOC130067400|LOC130067401		Infantile neuroaxonal dystrophy	VCV000584440	22	38575740 - 38578170	22	38179733 - 38182163	584440	575509			Indel		Pathogenic	1-Mar-17	"criteria provided, single submitter"						
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)	LAMA1	Q1803*	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided	VCV000584439	18	6985615	18	6985616	584439	575504	rs1568019012	NC_000018.10:6985615:G:A	single nucleotide variant	nonsense	Pathogenic	17-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_024496.4(IRF2BPL):c.1259T>C (p.Phe420Ser)	IRF2BPL	F420S	IRF2BPL-related disorder	VCV000584438	14	77492877	14	77026534	584438	575500	rs1566785990	NC_000014.9:77026533:A:G	single nucleotide variant	missense variant	Likely pathogenic	10-Jul-18	"criteria provided, single submitter"						
Single allele	HDAC8|LOC130068439|PHKA1		Cornelia de Lange syndrome 5	VCV000584437	X	71790521 - 71833766	X	72570671 - 72613916	584437	575511			Deletion		Pathogenic	16-Mar-18	"criteria provided, single submitter"						
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter)	GATAD2B	Q359*	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	VCV000584436	1	153788890	1	153816414	584436	575485	rs1557781252	NC_000001.11:153816413:G:A	single nucleotide variant	nonsense	Pathogenic	4-May-18	"criteria provided, single submitter"						
NM_003797.5(EED):c.1097T>C (p.Met366Thr)	EED	"M366T, M286T, M391T"	Cohen-Gibson syndrome	VCV000584435	11	85988152	11	86277110	584435	575495	rs1565706229	NC_000011.10:86277109:T:C	single nucleotide variant	missense variant	Likely pathogenic	1-Jun-18	"criteria provided, single submitter"						
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)	COL6A1		Bethlem myopathy 1A	VCV000584434	21	47409002 - 47409004	21	45989088 - 45989090	584434	575508	rs1569518070	NC_000021.9:45989087:AAC:	Deletion	inframe_indel	Likely pathogenic	9-Feb-18	"criteria provided, single submitter"						
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter)	QRICH1	Q460*	Ververi-Brady syndrome	VCV000584433	3	49084640	3	49047207	584433	575488	rs1559931177	NC_000003.12:49047206:G:A	single nucleotide variant	nonsense	Pathogenic	21-Dec-21	"criteria provided, multiple submitters, no conflicts"						
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	MTOR	T1977I	CEBALID syndrome|MTOR-related megalencephaly and pigmentary mosaicism in skin|Isolated focal cortical dysplasia type II|not provided	VCV000584432	1	11188164	1	11128107	584432	575484	rs587777893	NC_000001.11:11128106:G:A	single nucleotide variant	missense variant	Pathogenic	22-Apr-23	"criteria provided, multiple submitters, no conflicts"						
NM_005932.4(MIPEP):c.787-51_993-181del	LOC130009386|MIPEP		Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	VCV000584431	13	24436682 - 24443638	13	23862543 - 23869499	584431	575510			Deletion	splice acceptor variant|splice donor variant	Pathogenic	14-Aug-17	"criteria provided, single submitter"						
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)	MIPEP	L162W	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	VCV000584430	13	24453461	13	23879322	584430	575497	rs768628283	NC_000013.11:23879321:A:C	single nucleotide variant	missense variant	Uncertain significance	14-Aug-17	"criteria provided, single submitter"						
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu)	KIF2A	"G313E, G294E, G286E"	Complex cortical dysplasia with other brain malformations 3|not provided	VCV000584429	5	61657134	5	62361307	584429	575489	rs1561273261	NC_000005.10:62361306:G:A	single nucleotide variant	missense variant	Likely pathogenic	7-Jun-18	"criteria provided, multiple submitters, no conflicts"						
NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)	ATP6V1A	P375T	"Epileptic encephalopathy, infantile or early childhood, 3"	VCV000584428	3	113513948	3	113795101	584428	575487	rs1559759089	NC_000003.12:113795100:C:A	single nucleotide variant	missense variant	Likely pathogenic	20-Apr-18	"criteria provided, single submitter"						
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	ACOX1	"N237S, N199S"	not provided|Inborn genetic diseases|Mitchell syndrome|Acyl-CoA oxidase deficiency|ACOX1-related disorder	VCV000584427	17	73951711	17	75955630	584427	575503	rs1567876984	NC_000017.11:75955629:T:C	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	26-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)	PURA	G165S	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	VCV000580652	5	139494259	5	140114674	580652	562881	rs1561793272	NC_000005.10:140114673:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	2-Mar-19	"criteria provided, conflicting classifications"						
NM_004722.4(AP4M1):c.929+5G>A	AP4M1		not provided|Hereditary spastic paraplegia|Hereditary spastic paraplegia 50	VCV000575767	7	99703167	7	100105544	575767	566164	rs1293317548	NC_000007.14:100105543:G:A	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	27-Oct-23	"criteria provided, conflicting classifications"						
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	ATP6V0A1	"R741Q, R734Q, R740Q, R658Q, R663Q, R664Q, R669Q, R670Q, R680Q, R681Q, R691Q, R697Q, R698Q, R704Q, R705Q, R747Q, R765Q, R772Q, R775Q, R781Q, R782Q, R788Q, R806Q"	not provided|Severe global developmental delay|Intellectual disability|Autism|Lower limb spasticity|Cerebellar ataxia|Focal-onset seizure|Microcephaly|Global developmental delay|Hypotonia|Large for gestational age|Seizure|Inborn genetic diseases	VCV000560227	17	40665967	17	42513949	560227	551320	rs1567871600	NC_000017.11:42513948:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Aug-22	"criteria provided, conflicting classifications"						
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)	IRF2BPL	R188*	"Inborn genetic diseases|IRF2BPL-related disorder|Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures|not provided"	VCV000559608	14	77493574	14	77027231	559608	550329	rs1345176461	NC_000014.9:77027230:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	27-Apr-23	"criteria provided, multiple submitters, no conflicts"						
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	SGCA	L31P	Autosomal recessive limb-girdle muscular dystrophy type 2D	VCV000550333	17	48244783	17	50167422	550333	548534	rs903823830	NC_000017.11:50167421:T:C	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic/Likely pathogenic	3-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_001077415.3(CRELD1):c.959del (p.Gln320fs)	CRELD1	"Q320fs, Q292fs"	"CRELD1-related disorder|Atrioventricular septal defect, susceptibility to, 2|not provided"	VCV000546928	3	9985110	3	9943426	546928	537417	rs759473511	NC_000003.12:9943425:A:	Deletion	frameshift variant|non-coding transcript variant	Uncertain significance	1-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	RHOBTB2	"R483H, R461H, R468H"	"Inborn genetic diseases|Developmental and epileptic encephalopathy, 64|not provided"	VCV000545417	8	22865140	8	23007627	545417	535681	rs1554504663	NC_000008.11:23007626:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	5-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_001848.3(COL6A1):c.930+189C>T	COL6A1		Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A|not provided	VCV000542998	21	47409881	21	45989967	542998	534026	rs1556425596	NC_000021.9:45989966:C:T	single nucleotide variant	intron variant	Pathogenic	10-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)	IFIH1	P356T	IFIH1-related disorder|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|IFIH1-related immunodeficiency|not provided|Singleton-Merten syndrome 1|Immunodeficiency 95|Aicardi-Goutieres syndrome 7	VCV000541784	2	163144674	2	162288164	541784	516598	rs150317197	NC_000002.12:162288163:G:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Mar-24	"criteria provided, conflicting classifications"						
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs)	PSTPIP1	"V399fs, V408fs, V473fs, V389fs"	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	VCV000534751	15	77329487 - 77329488	15	77037146 - 77037147	534751	529059	rs1392091785	NC_000015.10:77037146:G:GG	Duplication	frameshift variant|non-coding transcript variant	Uncertain significance	24-Apr-22	"criteria provided, single submitter"						
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)	TOR1AIP1	"A476V, A477V"	Autosomal recessive limb-girdle muscular dystrophy type 2Y	VCV000522870	1	179887049	1	179917914	522870	513406	rs201518227	NC_000001.11:179917913:C:T	single nucleotide variant	missense variant	Likely pathogenic	14-Nov-16	"criteria provided, single submitter"						
NM_002180.3(IGHMBP2):c.1235+894C>A	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|not provided|Charcot-Marie-Tooth disease axonal type 2S	VCV000522869	11	68697719	11	68930251	522869	513440	rs1202430946	NC_000011.10:68930250:C:A	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	9-Jul-23	"criteria provided, multiple submitters, no conflicts"						
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)	IGHMBP2	L577P	not provided|Charcot-Marie-Tooth disease axonal type 2S|Inborn genetic diseases|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S	VCV000522868	11	68702864	11	68935396	522868	513441	rs1483165002	NC_000011.10:68935395:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	11-Dec-23	"criteria provided, conflicting classifications"						
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)	HGSNAT	"V348M, V60M, V284M"	"Mucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73"	VCV000522867	8	43037317	8	43182174	522867	513428	rs1318217031	NC_000008.11:43182173:G:A	single nucleotide variant	missense variant	Uncertain significance	3-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)	GCH1	R235Q	Dystonia 5	VCV000522866	14	55310784	14	54844066	522866	513447	rs1555358380	NC_000014.9:54844065:C:T	single nucleotide variant	missense variant|intron variant	Uncertain significance	10-Sep-20	"criteria provided, multiple submitters, no conflicts"						
NM_013403.3(STRN4):c.282+78C>T	FKRP|LOC130064775|STRN4		Autosomal recessive limb-girdle muscular dystrophy type 2I	VCV000522865	19	47249328	19	46746071	522865	513477	rs1555735545	NC_000019.10:46746070:G:A	single nucleotide variant	5 prime UTR variant|intron variant	Pathogenic	11-Jan-17	"criteria provided, single submitter"						
NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile)	FAT4	"M3520I, M3518I"	not provided|Van Maldergem syndrome 2	VCV000522864	4	126372725	4	125451570	522864	513417	rs144506470	NC_000004.12:125451569:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	20-Jan-24	"criteria provided, conflicting classifications"						
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs)	EFTUD2	"Q488fs, Q523fs, Q513fs"	Mandibulofacial dysostosis-microcephaly syndrome	VCV000522863	17	42940121	17	44862753	522863	513468	rs1555565774	NC_000017.11:44862752:GGG:GG	Deletion	frameshift variant	Pathogenic	1-Sep-17	"criteria provided, single submitter"						
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter)	MSTO1	"Q226*, Q45*, Q48*, Q49*, Q171*"	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	VCV000522862	1	155581889	1	155612098	522862	513405	rs1208636573	NC_000001.11:155612097:C:T	single nucleotide variant	nonsense|non-coding transcript variant	Likely pathogenic	14-Dec-17	"criteria provided, single submitter"						
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe)	KMT2B	C1644F	"Dystonia 28, childhood-onset"	VCV000522861	19	36220881	19	35729980	522861	513476	rs1555731819	NC_000019.10:35729979:G:T	single nucleotide variant	missense variant	Likely pathogenic	30-Sep-17	"criteria provided, single submitter"						
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser)	ZNF292	"Y2193S, Y2053S"	ZNF292-related neurodevelopmental condition	VCV000522860	6	87969925	6	87260207	522860	513423	rs1554208945	NC_000006.12:87260206:A:C	single nucleotide variant	missense variant	Likely pathogenic	24-Oct-17	"criteria provided, single submitter"						
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)	RAD51	"E258K, E259K"	Fanconi anemia complementation group R	VCV000522859	15	41021830	15	40729632	522859	513451	rs1555429629	NC_000015.10:40729631:G:A	single nucleotide variant	missense variant	Likely pathogenic	1-Feb-22	"criteria provided, multiple submitters, no conflicts"						
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	RERE	"H1435R, H881R"	"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|not provided"	VCV000522858	1	8418291	1	8358231	522858	513409	rs1553154130	NC_000001.11:8358230:T:C	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	24-Feb-23	"criteria provided, multiple submitters, no conflicts"						
NM_020320.5(RARS2):c.1612del (p.Thr538fs)	RARS2	"T363fs, T538fs"	Pontocerebellar hypoplasia type 6|not provided	VCV000522857	6	88224713	6	87514995	522857	513424	rs781417096	NC_000006.12:87514994:TTTT:TTT	Deletion	frameshift variant|non-coding transcript variant	Pathogenic/Likely pathogenic	31-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_016011.4(MECR):c.-39G>C	MECR		"Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"	VCV000522856	1	29557457	1	29230945	522856	513407	rs749435497	NC_000001.11:29230944:C:G	single nucleotide variant		Uncertain significance	16-Jan-18	"criteria provided, single submitter"						
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)	GRIN2A	A818T	Landau-Kleffner syndrome	VCV000522855	16	9862851	16	9768994	522855	513463	rs1555483699	NC_000016.10:9768993:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	15-Jul-19	"criteria provided, conflicting classifications"						
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)	FGF12	"G112S, G50S, G13S, G26S"	"FGF12-related disorder|Developmental and epileptic encephalopathy, 47|not provided"	VCV000522854	3	192053230	3	192335441	522854	513415	rs1553798675	NC_000003.12:192335440:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	26-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_030665.4(RAI1):c.2472dup (p.Leu825fs)	RAI1	L825fs	Smith-Magenis syndrome	VCV000522853	17	17698731 - 17698732	17	17795417 - 17795418	522853	513464	rs1555565492	NC_000017.11:17795417:GGG:GGGG	Duplication	frameshift variant	Pathogenic	2-Jan-18	"criteria provided, single submitter"						
NM_183065.4(TMEM107):c.*634C>T	SNORD118|TMEM107		Leukoencephalopathy with calcifications and cysts	VCV000522852	17	8076887	17	8173569	522852	513471	rs545394298	NC_000017.11:8173568:G:A	single nucleotide variant	non-coding transcript variant|3 prime UTR variant	Uncertain significance	13-Mar-18	"criteria provided, single submitter"						
NM_183065.4(TMEM107):c.*617C>T	SNORD118|TMEM107		Leukoencephalopathy with calcifications and cysts|not provided	VCV000522851	17	8076904	17	8173586	522851	513472	rs117735243	NC_000017.11:8173585:G:A	single nucleotide variant	non-coding transcript variant|3 prime UTR variant	Conflicting classifications of pathogenicity	1-Apr-24	"criteria provided, conflicting classifications"						
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	SLC20A2	E575*	Idiopathic basal ganglia calcification 1	VCV000522850	8	42286347	8	42428829	522850	513426	rs387906653	NC_000008.11:42428828:C:A	single nucleotide variant	nonsense	Pathogenic	25-Oct-16	"criteria provided, single submitter"						
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	SLC20A2	Q46*	Idiopathic basal ganglia calcification 1|not provided	VCV000522849	8	42329773	8	42472255	522849	513427	rs751093906	NC_000008.11:42472254:G:A	single nucleotide variant	nonsense	Pathogenic	16-May-22	"criteria provided, multiple submitters, no conflicts"						
NM_005559.4(LAMA1):c.1706G>C (p.Trp569Ser)	LAMA1	W569S	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	VCV000522848	18	7037608	18	7037609	522848	513475	rs1254270535	NC_000018.10:7037608:C:G	single nucleotide variant	missense variant	Uncertain significance	12-Mar-18	"criteria provided, single submitter"						
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)	LAMA1	F3066fs	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	VCV000522847	18	6942109	18	6942110	522847	513474	rs1555640521	NC_000018.10:6942109:AAAA:AAA	Deletion	frameshift variant	Likely pathogenic	12-Mar-18	"criteria provided, single submitter"						
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)	NPHP3-ACAD11|UBA5	"C303R, C191R, C213R, C247R"	"Developmental and epileptic encephalopathy, 44"	VCV000522846	3	132394186	3	132675342	522846	513414	rs1553770577	NC_000003.12:132675341:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	14-Mar-21	"criteria provided, conflicting classifications"						
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)	SYNGAP1|SYNGAP1-AS1	R544*	"Intellectual disability, autosomal dominant 5|not provided|Inborn genetic diseases"	VCV000522845	6	33406650	6	33438873	522845	513422	rs1554121443	NC_000006.12:33438872:C:T	single nucleotide variant	nonsense	Pathogenic	31-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp)	GNAO1	A221D	Neurodevelopmental disorder with involuntary movements	VCV000522843	16	56370711	16	56336799	522843	513460	rs1555507479	NC_000016.10:56336798:C:A	single nucleotide variant	missense variant	Likely pathogenic	15-Jun-18	"criteria provided, multiple submitters, no conflicts"						
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	CNTNAP1	R388P	Lethal congenital contracture syndrome 7|Inborn genetic diseases	VCV000522842	17	40839856	17	42687838	522842	513467	rs779027563	NC_000017.11:42687837:G:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	21-Jul-22	"criteria provided, conflicting classifications"						
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del)	NLRP12	K502del	Familial cold autoinflammatory syndrome 2	VCV000522838	19	54313407 - 54313409	19	53810153 - 53810155	522838	513478	rs1403147116	NC_000019.10:53810152:CTTCT:CT	Deletion	inframe_deletion	Uncertain significance	5-Oct-21	"criteria provided, multiple submitters, no conflicts"						
NM_032569.4(GLYR1):c.584G>T (p.Gly195Val)	GLYR1	"G195V, G114V"	GLYR1-related disorder	VCV000522837	16	4873862	16	4823861	522837	513457	rs1555500532	NC_000016.10:4823860:C:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	9-Mar-18	"criteria provided, single submitter"						
NM_032569.4(GLYR1):c.596C>T (p.Ala199Val)	GLYR1	"A199V, A118V"	GLYR1-related disorder	VCV000522836	16	4873850	16	4823849	522836	513456	rs369808296	NC_000016.10:4823848:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	9-Mar-18	"criteria provided, single submitter"						
NM_005811.5(GDF11):c.1008C>G (p.Tyr336Ter)	GDF11	Y336*	GDF11-associated multiple congenital anomalies and ID	VCV000522835	12	56143450	12	55749666	522835	513444	rs1449282134	NC_000012.12:55749665:C:G	single nucleotide variant	nonsense	Uncertain significance	6-Oct-17	"criteria provided, single submitter"						
NM_001350197.2(EVI5):c.1192C>T (p.Arg398Cys)	EVI5	"R442C, R398C, R425C, R439C"	EVI5-related disorder	VCV000522834	1	93131516	1	92665959	522834	513410	rs200507358	NC_000001.11:92665958:G:A	single nucleotide variant	missense variant	Uncertain significance	8-Nov-17	"criteria provided, single submitter"						
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys)	ABCA2	"T398K, T428K"	ABCA2-related disorder|not provided	VCV000522833	9	139915218	9	137020766	522833	513432	rs143473036	NC_000009.12:137020765:G:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Dec-22	"criteria provided, conflicting classifications"						
NM_001606.5(ABCA2):c.4281C>A (p.Ser1427Arg)	ABCA2	"S1427R, S1457R"	ABCA2-related disorder	VCV000522832	9	139908450	9	137013998	522832	513431	rs762225648	NC_000009.12:137013997:G:T	single nucleotide variant	missense variant	Uncertain significance	8-Nov-17	"criteria provided, single submitter"						
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)	MTHFS|ST20-MTHFS	"R145Q, R88Q, R121Q"	"Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination|not provided"	VCV000522831	15	80137730	15	79845388	522831	513454	rs753635972	NC_000015.10:79845387:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	22-Dec-23	"criteria provided, conflicting classifications"						
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)	ST20-MTHFS|MTHFS	"Q105*, Q162*, Q138*"	"Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"	VCV000522830	15	80137680	15	79845338	522830	513453	rs771379232	NC_000015.10:79845337:G:A	single nucleotide variant	nonsense|non-coding transcript variant	Likely pathogenic	30-Apr-19	"criteria provided, single submitter"						
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	MYBPC1	"L259P, L215P, L222P, L221P, L234P, L208P, L189P"	"MYBPC1-related disorder|Myopathy, congenital, with tremor|not provided"	VCV000522829	12	102036307	12	101642529	522829	513442	rs1421405659	NC_000012.12:101642528:T:C	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	26-Jul-21	"criteria provided, multiple submitters, no conflicts"						
NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu)	CACNA1C	"V1363L, V1411L, V1383L, V1385L, V1350L, V1352L, V1360L, V1380L, V1391L"	CACNA1C-related disorder	VCV000522828	12	2763013	12	2653847	522828	513443	rs1555968941	NC_000012.12:2653846:G:C	single nucleotide variant	missense variant	Likely pathogenic	23-Jan-18	"criteria provided, single submitter"						
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs)	USP7	"R665fs, R624fs, R707fs, R723fs"	USP7-related disorder	VCV000522827	16	8994885 - 8994886	16	8901028 - 8901029	522827	513461	rs1555462347	NC_000016.10:8901027:CTCT:CT	Microsatellite	frameshift variant|non-coding transcript variant	Likely pathogenic	28-Jun-17	"criteria provided, single submitter"						
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	TBX2	R20Q	TBX2-related disorder|Vertebral anomalies and variable endocrine and T-cell dysfunction	VCV000522826	17	59477596	17	61400235	522826	513470	rs1364709483	NC_000017.11:61400234:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	5-Sep-22	"criteria provided, multiple submitters, no conflicts"						
NM_003119.4(SPG7):c.2271del (p.Met757fs)	SPG7	M757fs	Hereditary spastic paraplegia 7	VCV000522825	16	89623384	16	89556976	522825	513462	rs1217391623	NC_000016.10:89556975:G:	Deletion	3 prime UTR variant|frameshift variant	Pathogenic/Likely pathogenic	23-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_001330288.2(SMARCC2):c.1926+1G>T	SMARCC2		SMARCC2-related disorder|SMARCC2-related BAFopathy	VCV000522824	12	56566211	12	56172427	522824	513445	rs1555221275	NC_000012.12:56172426:C:A	single nucleotide variant	splice donor variant	Conflicting classifications of pathogenicity	10-Jun-21	"criteria provided, conflicting classifications"						
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)	NAGLU	S612G	"Mucopolysaccharidosis, MPS-III-B|not provided|Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V"	VCV000522823	17	40695858	17	42543840	522823	513465	rs148881970	NC_000017.11:42543839:A:G	single nucleotide variant	missense variant	Pathogenic	29-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	NAGLU	E639*	"Mucopolysaccharidosis, MPS-III-B|not provided"	VCV000522822	17	40695939	17	42543921	522822	513466	rs555145190	NC_000017.11:42543920:G:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	14-May-19	"criteria provided, multiple submitters, no conflicts"						
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter)	IRF2BPL	E172*	IRF2BPL-related disorder|not provided	VCV000522821	14	77493622	14	77027279	522821	513448	rs1448259271	NC_000014.9:77027278:C:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	21-Jan-20	"criteria provided, multiple submitters, no conflicts"						
NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn)	HEPACAM	D198N	"not provided|Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	VCV000522820	11	124793742	11	124923846	522820	513438	rs570071609	NC_000011.10:124923845:C:T	single nucleotide variant	missense variant	Uncertain significance	22-Jan-20	"criteria provided, multiple submitters, no conflicts"						
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)	EFL1	"T127A, T76A"	Shwachman-Diamond syndrome 2	VCV000522819	15	82532896	15	82240555	522819	513455	rs1441937959	NC_000015.10:82240554:T:C	single nucleotide variant	missense variant|5 prime UTR variant|non-coding transcript variant	Likely pathogenic	18-Jan-18	"criteria provided, single submitter"						
NM_030632.3(ASXL3):c.3039+1G>A	ASXL3		ASXL3-related disorder|Inborn genetic diseases|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	VCV000522818	18	31320408	18	33740444	522818	513473	rs1555743003	NC_000018.10:33740443:G:A	single nucleotide variant	splice donor variant	Pathogenic	20-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs)	AGTPBP1		AGTPBP1-related disorder	VCV000522817	9	88203380	9	85588465	522817	513435	rs780631499	NC_000009.12:85588464:G:	Deletion	nonsense	Pathogenic	5-Jan-17	"criteria provided, single submitter"						
NM_001330701.2(AGTPBP1):c.2336-1G>T	AGTPBP1		AGTPBP1-related disorder	VCV000522816	9	88211365	9	85596450	522816	513436	rs1554699491	NC_000009.12:85596449:C:A	single nucleotide variant	splice acceptor variant	Pathogenic	5-Jan-17	"criteria provided, single submitter"						
NM_020442.6(VARS2):c.986-14A>G	VARS2		Combined oxidative phosphorylation defect type 20	VCV000522815	6	30886590	6	30918813	522815	513420	rs1297230026	NC_000006.12:30918812:A:G	single nucleotide variant	intron variant	Uncertain significance	4-May-17	"criteria provided, single submitter"						
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	VARS2	"A390T, A420T, A250T"	VARS2-related disorder|not provided|Inborn genetic diseases|Combined oxidative phosphorylation defect type 20|See cases	VCV000522814	6	30887868	6	30920091	522814	513421	rs202201763	NC_000006.12:30920090:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	22-Jan-24	"criteria provided, conflicting classifications"						
NM_004239.4(TRIP11):c.4557+1G>T	TRIP11		Odontochondrodysplasia 1	VCV000522813	14	92469762	14	92003418	522813	513449	rs1555386022	NC_000014.9:92003417:C:A	single nucleotide variant	splice donor variant	Pathogenic	9-Jun-17	"criteria provided, single submitter"						
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter)	TRIP11	"E680*, E679*"	Odontochondrodysplasia 1	VCV000522812	14	92472282	14	92005938	522812	513450	rs1400419650	NC_000014.9:92005937:C:A	single nucleotide variant	nonsense	Pathogenic	9-Jun-17	"criteria provided, single submitter"						
NM_182961.4(SYNE1):c.1369del (p.Asp457fs)	SYNE1	"D464fs, D457fs"	"Autosomal recessive ataxia, Beauce type"	VCV000522811	6	152793530	6	152472395	522811	513419	rs1554768245	NC_000006.12:152472394:CC:C	Deletion	frameshift variant	Pathogenic	4-Oct-16	"criteria provided, single submitter"						
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)	SPG11		not provided|Hereditary spastic paraplegia 11	VCV000522810	15	44907685 - 44907687	15	44615487 - 44615489	522810	513452	rs1555454508	NC_000015.10:44615486:GTA:ATC	Indel	nonsense	Pathogenic	6-Dec-22	"criteria provided, multiple submitters, no conflicts"						
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)	ALG1	F181L	ALG1-congenital disorder of glycosylation	VCV000522809	16	5129078	16	5079077	522809	513458	rs1009298200	NC_000016.10:5079076:C:G	single nucleotide variant	missense variant	Likely pathogenic	23-Jun-17	"criteria provided, single submitter"						
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)	ALG1	S182P	ALG1-congenital disorder of glycosylation	VCV000522808	16	5129079	16	5079078	522808	513459	rs1555452127	NC_000016.10:5079077:T:C	single nucleotide variant	missense variant	Likely pathogenic	23-Jun-17	"criteria provided, single submitter"						
NM_001348323.3(TRIP12):c.1279del (p.Ser427fs)	TRIP12	"S385fs, S398fs, S427fs, S82fs"	TRIP12 associated autism with facial dysmorphology	VCV000522807	2	230695547	2	229830831	522807	513412	rs1553655558	NC_000002.12:229830830:AA:A	Deletion	frameshift variant|intron variant	Pathogenic	27-Jun-17	"criteria provided, single submitter"						
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	SEPSECS		not specified|Pontocerebellar hypoplasia type 2D|not provided	VCV000522806	4	25146714	4	25145092	522806	513418	rs146539065	NC_000004.12:25145091:C:T	single nucleotide variant	synonymous variant	Conflicting classifications of pathogenicity	17-Nov-23	"criteria provided, conflicting classifications"						
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)	KMT2A	L1174*	Wiedemann-Steiner syndrome	VCV000522805	11	118348868	11	118478153	522805	513437	rs1555038111	NC_000011.10:118478152:T:G	single nucleotide variant	nonsense	Pathogenic	8-Nov-17	"criteria provided, single submitter"						
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)	EHMT1	"G839V, G832V"	Kleefstra syndrome 1	VCV000522804	9	140693275	9	137798823	522804	513433	rs1554888939	NC_000009.12:137798822:G:T	single nucleotide variant	missense variant	Likely pathogenic	26-Jul-18	"criteria provided, multiple submitters, no conflicts"						
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)	RPS6KA3	K216E	Coffin-Lowry syndrome	VCV000522803	X	20206074	X	20187956	522803	513482	rs1555939456	NC_000023.11:20187955:T:C	single nucleotide variant	missense variant	Likely pathogenic	31-Mar-17	"criteria provided, single submitter"						
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)	PPP3CA	"S438fs, S396fs"	"Epileptic encephalopathy, infantile or early childhood, 1"	VCV000522802	4	101953451 - 101953452	4	101032294 - 101032295	522802	513416	rs1553920379	NC_000004.12:101032294:AAGTA:AAGTAAGTA	Duplication	frameshift variant	Pathogenic	26-Nov-17	"criteria provided, single submitter"						
NM_015932.6(POMP):c.334_335del (p.Ile112fs)	POMP	I112fs	Proteasome-associated autoinflammatory syndrome 2|Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	VCV000522801	13	29246544 - 29246545	13	28672407 - 28672408	522801	513446	rs1555257073	NC_000013.11:28672406:TAT:T	Deletion	frameshift variant	Pathogenic	12-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_006767.4(LZTR1):c.1943-256C>T	LZTR1		Noonan syndrome|Cardiovascular phenotype|Hereditary cancer-predisposing syndrome|not provided|Noonan syndrome 2|Schwannomatosis 2	VCV000522800	22	21349779	22	20995490	522800	513479	rs761685529	NC_000022.11:20995489:C:T	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	18-Jan-24	"criteria provided, conflicting classifications"						
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)	LZTR1	Y726*	Noonan syndrome 2|not provided|Hereditary cancer-predisposing syndrome|Cardiovascular phenotype	VCV000522799	22	21350360	22	20996071	522799	513480	rs1034395178	NC_000022.11:20996070:C:A	single nucleotide variant	nonsense	Pathogenic	23-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_031263.4(HNRNPK):c.214-35A>G	HNRNPK|HNRNPK-AS1		Au-Kline syndrome	VCV000522798	9	86590455	9	83975540	522798	513434	rs1554700718	NC_000009.12:83975539:T:C	single nucleotide variant	intron variant	Likely pathogenic	28-May-19	"criteria provided, multiple submitters, no conflicts"						
NM_002055.5(GFAP):c.989G>C (p.Arg330Pro)	GFAP	R330P	Alexander disease	VCV000522797	17	42988742	17	44911374	522797	513469	rs983143417	NC_000017.11:44911373:C:G	single nucleotide variant	missense variant	Uncertain significance	4-Apr-16	"criteria provided, single submitter"						
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	DES	P419fs	not provided|Desmin-related myofibrillar myopathy	VCV000522796	2	220288506 - 220288522	2	219423784 - 219423800	522796	513411	rs1553603732	NC_000002.12:219423783:CTCCCCATCCAGACCTACTC:CTC	Deletion	frameshift variant	Pathogenic	1-Jun-21	"criteria provided, multiple submitters, no conflicts"						
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	DDX3X	"R534C, R348C, R518C"	"Intellectual disability, X-linked 102|not provided"	VCV000522795	X	41205860	X	41346607	522795	513483	rs1555954284	NC_000023.11:41346606:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic/Likely pathogenic	1-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)	CDK13	N842D	"not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	VCV000522794	7	40085605	7	40046006	522794	513425	rs1554333853	NC_000007.14:40046005:A:G	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	27-Jan-22	"criteria provided, multiple submitters, no conflicts"						
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)	ABCD1	W679R	Adrenoleukodystrophy	VCV000522793	X	153008986	X	153743532	522793	513481	rs1557055405	NC_000023.11:153743531:T:A	single nucleotide variant	missense variant	Likely pathogenic	30-Nov-17	"criteria provided, single submitter"						
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs)	SYNGAP1|SYNGAP1-AS1	"T1140fs, T1126fs"	"Inborn genetic diseases|Intellectual disability, autosomal dominant 5"	VCV000522008	6	33412227 - 33412228	6	33444450 - 33444451	522008	511673	rs1554122458	NC_000006.12:33444450:A:AA	Duplication	frameshift variant	Pathogenic	9-Jul-21	"criteria provided, multiple submitters, no conflicts"						
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	CACNA1E	A702T	"Van der Woude syndrome 1|Developmental and epileptic encephalopathy, 69|Inborn genetic diseases|not provided"	VCV000521483	1	181693635	1	181724499	521483	511197	rs12131800	NC_000001.11:181724498:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	11-Apr-23	"criteria provided, multiple submitters, no conflicts"						
NM_003718.5(CDK13):c.181del (p.Leu61fs)	CDK13	L61fs	"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|Inborn genetic diseases"	VCV000521173	7	39990420	7	39950821	521173	511710	rs1554317002	NC_000007.14:39950820:CC:C	Deletion	frameshift variant	Pathogenic/Likely pathogenic	16-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_002764.4(PRPS1):c.307-2A>G	PRPS1		Inborn genetic diseases	VCV000520913	X	106884130	X	107640900	520913	512559	rs1556299881	NC_000023.11:107640899:A:G	single nucleotide variant	splice acceptor variant|intron variant	Pathogenic	7-Jan-16	"criteria provided, single submitter"						
NM_022786.3(ARV1):c.674-2A>T	ARV1		"Developmental and epileptic encephalopathy, 38|Inborn genetic diseases"	VCV000520804	1	231132865	1	230997119	520804	511244	rs1192627743	NC_000001.11:230997118:A:T	single nucleotide variant	splice acceptor variant	Conflicting classifications of pathogenicity	7-Mar-18	"criteria provided, conflicting classifications"						
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg)	H3-3A	Q126R	H3F3A-related disorder|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1|Inborn genetic diseases	VCV000520774	1	226259146	1	226071445	520774	511233	rs1276519904	NC_000001.11:226071444:A:G	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	24-Feb-23	"criteria provided, multiple submitters, no conflicts"						
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)	PEX6	W91*	Heimler syndrome 2|not provided|Peroxisome biogenesis disorder 4B|Peroxisome biogenesis disorder	VCV000498713	6	42946616	6	42978878	498713	490137	rs1010184002	NC_000006.12:42978877:C:T	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic/Likely pathogenic	8-May-23	"criteria provided, multiple submitters, no conflicts"						
NM_000492.4(CFTR):c.870-2A>G	CFTR		Cystic fibrosis|not provided|CFTR-related disorder|Bronchiectasis with or without elevated sweat chloride 1	VCV000495962	7	117180152	7	117540098	495962	487253	rs1290078234	NC_000007.14:117540097:A:G	single nucleotide variant	splice acceptor variant	Pathogenic/Likely pathogenic	21-Feb-24	"criteria provided, multiple submitters, no conflicts"						
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	SCN8A	A874T	"Cognitive impairment with or without cerebellar ataxia|Developmental and epileptic encephalopathy, 13"	VCV000495260	12	52159530	12	51765746	495260	486752	rs1057524820	NC_000012.12:51765745:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	23-Feb-23	"criteria provided, multiple submitters, no conflicts"						
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	CDKL5	R948*	CDKL5 disorder	VCV000489299	X	18646836	X	18628716	489299	482247	rs1555955296	NC_000023.11:18628715:C:T	single nucleotide variant	nonsense|intron variant	Pathogenic	1-Sep-22	reviewed by expert panel						
NM_001378183.1(PIEZO2):c.1528-1G>A	PIEZO2		"Arthrogryposis, distal, with impaired proprioception and touch|not provided"	VCV000489220	18	10795001	18	10795003	489220	482163	rs1555648288	NC_000018.10:10795002:C:T	single nucleotide variant	splice acceptor variant	Likely pathogenic	11-Dec-17	"criteria provided, multiple submitters, no conflicts"						
NM_001378183.1(PIEZO2):c.5257-1G>A	PIEZO2		"Arthrogryposis, distal, with impaired proprioception and touch|not provided"	VCV000489219	18	10714929	18	10714931	489219	482162	rs1555630216	NC_000018.10:10714930:C:T	single nucleotide variant	splice acceptor variant	Pathogenic	11-Dec-17	"criteria provided, multiple submitters, no conflicts"						
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)	NALCN	"R855*, R826*, R884*"	"Inborn genetic diseases|not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1"	VCV000489164	13	101759854	13	101107503	489164	482036	rs376152742	NC_000013.11:101107502:G:A	single nucleotide variant	nonsense	Pathogenic	10-Oct-22	"criteria provided, multiple submitters, no conflicts"						
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)	IRF2BPL	Y173*	not provided|IRF2BPL-related disorder	VCV000488960	14	77493617	14	77027274	488960	482055	rs1555377415	NC_000014.9:77027273:G:C	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	1-May-19	"criteria provided, conflicting classifications"						
NM_000094.4(COL7A1):c.5532+1G>A	COL7A1		not provided|Recessive dystrophic epidermolysis bullosa	VCV000488825	3	48615753	3	48578320	488825	481696	rs767182886	NC_000003.12:48578319:C:T	single nucleotide variant	splice donor variant	Pathogenic/Likely pathogenic	23-Nov-22	"criteria provided, multiple submitters, no conflicts"						
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)	CLTC	"P890L, P894L"	"Intellectual disability, autosomal dominant 56|not provided"	VCV000488418	17	57754422	17	59677061	488418	481274		NC_000017.11:59677060:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	16-Sep-22	"criteria provided, multiple submitters, no conflicts"						
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)	SDHA	E152K	"Dilated cardiomyopathy 1GG|Hereditary cancer-predisposing syndrome|not provided|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5"	VCV000472390	5	225675	5	225560	472390	454905	rs778737664	NC_000005.10:225559:G:A	single nucleotide variant	missense variant|intron variant	Conflicting classifications of pathogenicity	16-Jan-24	"criteria provided, conflicting classifications"						
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)	SYNE1	"R8202H, R8131H, R404H, R357H"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type"	VCV000471035	6	152470649	6	152149514	471035	455973	rs376102438	NC_000006.12:152149513:C:T	single nucleotide variant	missense variant	Uncertain significance	16-Aug-22	"criteria provided, multiple submitters, no conflicts"						
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	ATP13A2	"Y1020fs, Y976fs, Y1015fs"	not provided|Autosomal recessive spastic paraplegia type 78|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|Inborn genetic diseases|Kufor-Rakeb syndrome|Neurodegeneration with brain iron accumulation	VCV000465253	1	17313567	1	16987072	465253	447466	rs765632065	NC_000001.11:16987071:G:	Deletion	frameshift variant	Pathogenic/Likely pathogenic	7-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys)	STIM1	"R530C, R636C, R367C, R370C, R454C, R456C, R485C, R537C, R561C, R562C"	Stormorken syndrome|Combined immunodeficiency due to STIM1 deficiency|Stormorken syndrome|Myopathy with tubular aggregates|not provided	VCV000461723	11	4112558	11	4091328	461723	461913	rs142239530	NC_000011.10:4091327:C:T	single nucleotide variant	missense variant|3 prime UTR variant|non-coding transcript variant	Conflicting classifications of pathogenicity	14-Dec-23	"criteria provided, conflicting classifications"						
NM_001114753.3(ENG):c.816+6T>C	ENG		Hereditary hemorrhagic telangiectasia	VCV000453308	9	130587504	9	127825225	453308	446888	rs759191907	NC_000009.12:127825224:A:G	single nucleotide variant	intron variant	Uncertain significance	21-Jul-21	"criteria provided, single submitter"						
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	PEX11B	"R199*, R185*"	Peroxisome biogenesis disorder 14B	VCV000453307	1	145522734	1	145912346	453307	446880	rs781984979	NC_000001.11:145912345:G:A	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic/Likely pathogenic	25-May-20	"criteria provided, multiple submitters, no conflicts"						
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)	PEX11B	"R93*, R79*"	Peroxisome biogenesis disorder 14B|not provided	VCV000453306	1	145518175	1	145916914	453306	446881	rs781939614	NC_000001.11:145916913:G:A	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic/Likely pathogenic	18-Sep-17	"criteria provided, multiple submitters, no conflicts"						
NM_000311.5(PRNP):c.180T>C (p.Pro60=)	PRNP	S31P	Spongiform encephalopathy with neuropsychiatric features	VCV000453305	20	4680046	20	4699400	453305	446895	rs1386720703	NC_000020.11:4699399:T:C	single nucleotide variant	synonymous variant|missense variant	Uncertain significance	26-Jun-16	"criteria provided, single submitter"						
NM_000311.5(PRNP):c.198G>A (p.Gly66=)	PRNP	A37T	Spongiform encephalopathy with neuropsychiatric features	VCV000453304	20	4680064	20	4699418	453304	446896	rs750069679	NC_000020.11:4699417:G:A	single nucleotide variant	synonymous variant|missense variant	Uncertain significance	26-Jun-16	"criteria provided, single submitter"						
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter)	GH-LCR|SCN4A	R1142*	Myopathy|Severe neonatal hypotonia improving with age	VCV000453303	17	62024422	17	63947062	453303	446892	rs912001256	NC_000017.11:63947061:G:A	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	1-Sep-17	"criteria provided, conflicting classifications"						
NM_001371986.1(UNC80):c.8772+2T>G	UNC80		"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	VCV000453302	2	210841029	2	209976305	453302	446882	rs1553621496	NC_000002.12:209976304:T:G	single nucleotide variant	splice donor variant	Likely pathogenic	15-Apr-16	no assertion criteria provided						
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe)	SLC35A2	"C82F, C58F, C110F, C95F"	SLC35A2-congenital disorder of glycosylation	VCV000453301	X	48767120	X	48909843	453301	446897	rs1557043622	NC_000023.11:48909842:C:A	single nucleotide variant	missense variant|intron variant	Likely pathogenic	30-Jul-19	"criteria provided, single submitter"						
NM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly)	OTUD4	"A129G, A194G"	not specified	VCV000453300	4	146080703	4	145159551	453300	446884	rs36225458	NC_000004.12:145159550:G:C	single nucleotide variant	missense variant	Uncertain significance	18-Apr-16	no assertion criteria provided						
NM_001366057.1(OTUD4):c.821G>A (p.Arg274His)	OTUD4	"R209H, R274H"	not specified	VCV000453299	4	146076615	4	145155463	453299	446883	rs369308038	NC_000004.12:145155462:C:T	single nucleotide variant	missense variant	Uncertain significance	18-Apr-16	no assertion criteria provided						
Single allele	LOC126806306|LOC126806305|LOC129934555|LOC129934556|MALL|MTLN|NPHP1		Senior-loken syndrome 3|Nephronophthisis 1	VCV000453297	2	110852960 - 110975102	2	110095383 - 110217525	453297	446900			Deletion		Pathogenic	20-Jun-16	no assertion criteria provided						
NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu)	ATP5F1D	P82L	Decreased activity of mitochondrial ATP synthase complex|Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5	VCV000453296	19	1242558	19	1242559	453296	446893	rs867410737	NC_000019.10:1242558:C:T	single nucleotide variant	missense variant	Pathogenic	14-Sep-18	no assertion criteria provided						
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)	TUBB4A	"C354W, C405W, C399W, C282W"	not provided	VCV000453295	19	6495448	19	6495437	453295	446894	rs748787734	NC_000019.10:6495436:G:C	single nucleotide variant	missense variant	Likely pathogenic	19-Apr-22	"criteria provided, single submitter"						
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)	ROGDI	E170fs	Amelocerebrohypohidrotic syndrome	VCV000453294	16	4848593 - 4848594	16	4798592 - 4798593	453294	446891	rs786205124	NC_000016.10:4798592:GGGG:GGGGGG	Duplication	non-coding transcript variant|frameshift variant	Pathogenic/Likely pathogenic	18-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)	FBN1	E291*	Marfan syndrome	VCV000453293	15	48818444	15	48526247	453293	446890	rs1232880706	NC_000015.10:48526246:C:A	single nucleotide variant	nonsense	Pathogenic	30-May-16	"criteria provided, single submitter"						
NC_000020.11:g.759188G>A	SLC52A3		Brown-Vialetto-van Laere syndrome 1	VCV000453292	20	739832	20	759188	453292	446899	rs544939272	NC_000020.11:759187:G:A	single nucleotide variant		Uncertain significance	2-Mar-16	"criteria provided, single submitter"						
NM_033409.4(SLC52A3):c.-52+394T>C	SLC52A3		Brown-Vialetto-van Laere syndrome 1	VCV000453291	20	748547	20	767903	453291	446898	rs750886042	NC_000020.11:767902:A:G	single nucleotide variant	intron variant	Uncertain significance	2-Mar-16	"criteria provided, single submitter"						
NM_001085411.3(NADK2):c.1A>G (p.Met1Val)	LOC129993801|NADK2	M1V	Progressive encephalopathy with leukodystrophy due to DECR deficiency	VCV000453290	5	36241900	5	36241798	453290	446886	rs1277388010	NC_000005.10:36241797:T:C	single nucleotide variant	missense variant|initiator_codon_variant|intron variant	Uncertain significance	7-Jul-22	"criteria provided, multiple submitters, no conflicts"						
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)	FOXG1	Y208*	"Rett syndrome, congenital variant"	VCV000453289	14	29237109	14	28767903	453289	446889	rs267606826	NC_000014.9:28767902:C:A	single nucleotide variant	nonsense	Pathogenic	5-Mar-20	"criteria provided, multiple submitters, no conflicts"						
NM_005506.4(SCARB2):c.367dup (p.Gln123fs)	SCARB2	Q123fs	Action myoclonus-renal failure syndrome	VCV000453288	4	77102162 - 77102163	4	76181009 - 76181010	453288	446885	rs1553948516	NC_000004.12:76181009:GG:GGG	Duplication	frameshift variant|intron variant	Pathogenic	21-Mar-16	no assertion criteria provided						
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)	LOC126859961|DNAH11	R989Q	Primary ciliary dyskinesia 7|Primary ciliary dyskinesia	VCV000453287	7	21639703	7	21600085	453287	446887	rs1178187217	NC_000007.14:21600084:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	11-Dec-23	"criteria provided, conflicting classifications"						
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)	CLPP	R174C	Perrault syndrome 3|not provided	VCV000453066	19	6364615	19	6364604	453066	446195	rs1244525711	NC_000019.10:6364603:C:T	single nucleotide variant	missense variant	Uncertain significance	3-Sep-21	"criteria provided, multiple submitters, no conflicts"						
NM_004204.5(PIGQ):c.942+1G>A	PIGQ		"Epilepsy|Developmental and epileptic encephalopathy, 77|Inborn genetic diseases|not provided|PIGQ-related disorder"	VCV000453003	16	626255	16	576255	453003	445590	rs200661329	NC_000016.10:576254:G:A	single nucleotide variant	splice donor variant	Pathogenic/Likely pathogenic	6-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)	DLAT	"D123Y, D112Y, D81Y, D67Y"	not provided|Pyruvate dehydrogenase E2 deficiency	VCV000452714	11	111897009	11	112026285	452714	444723	rs1555179247	NC_000011.10:112026284:G:T	single nucleotide variant	missense variant|5 prime UTR variant|non-coding transcript variant|intron variant	Uncertain significance	31-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly)	ACTG1	A204G	Baraitser-winter syndrome 2|not provided	VCV000452404	17	79478405	17	81511379	452404	445921	rs11549225	NC_000017.11:81511378:G:C	single nucleotide variant	missense variant|non-coding transcript variant	Likely pathogenic	14-Jul-20	"criteria provided, multiple submitters, no conflicts"						
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)	CHKB|CHKB-CPT1B	Q51*	not provided|Megaconial type congenital muscular dystrophy	VCV000451378	22	51021060	22	50582631	451378	446429	rs373091820	NC_000022.11:50582630:G:A	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic/Likely pathogenic	15-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs)	KMT2B	S9fs	"not provided|Dystonia 28, childhood-onset|Inborn genetic diseases"	VCV000450816	19	36208922 - 36208923	19	35718020 - 35718021	450816	446086	rs1555727493	NC_000019.10:35718020:GGCGGCGGCGGCGGGCGGCGGC:GGCGGCGGCGGCGGGCGGCGGCGGCGGGCGGCGGC	Duplication	frameshift variant|initiator_codon_variant	Pathogenic	1-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu)	CACNA1A	"R1352L, R1351L, R1355L"	CACNA1A-related disorder|not provided	VCV000450236	19	13373585	19	13262771	450236	446050	rs1555745467	NC_000019.10:13262770:C:A	single nucleotide variant	missense variant	Likely pathogenic	29-Aug-17	"criteria provided, multiple submitters, no conflicts"						
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)	COG4	"G516R, G374R, G512R"	"COG4-congenital disorder of glycosylation|Microcephalic osteodysplastic dysplasia, Saul-Wilson type|Inborn genetic diseases|not provided"	VCV000449730	16	70530270	16	70496367	449730	445607	rs1555575860	NC_000016.10:70496366:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic	23-Nov-22	"criteria provided, multiple submitters, no conflicts"						
NM_007055.4(POLR3A):c.1771-7C>G	POLR3A		POLR3A-related disorder|not provided|Pol III-related leukodystrophy|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	VCV000449556	10	79769440	10	78009682	449556	444659	rs201314157	NC_000010.11:78009681:G:C	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	24-Jan-24	"criteria provided, conflicting classifications"						
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)	EEF1A2	R266W	"Developmental and epileptic encephalopathy, 33|Intellectual disability, autosomal dominant 38|Intellectual disability, autosomal dominant 38|Developmental and epileptic encephalopathy, 33|Inborn genetic diseases|not provided|EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|EEF1A2-related disorder"	VCV000449242	20	62122065	20	63490712	449242	446299	rs1555883505	NC_000020.11:63490711:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	16-Aug-22	"criteria provided, conflicting classifications"						
NM_016011.5(MECR):c.830+2dup	MECR		"Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|not provided|Mitochondrial disease"	VCV000449055	1	29527026	1	29200513 - 29200514	449055	442819	rs756421370	NC_000001.11:29200513:A:AA	Duplication	splice donor variant|non-coding transcript variant	Pathogenic/Likely pathogenic	26-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)	WWOX	"G137E, G24E"	"Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1|not provided"	VCV000444378	16	78198080	16	78164183	444378	438018	rs761879076	NC_000016.10:78164182:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	22-Jul-22	"criteria provided, conflicting classifications"						
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	CDKL5	R943fs	"Developmental and epileptic encephalopathy, 2|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like"	VCV000441534	X	18646821 - 18646822	X	18628701 - 18628702	441534	435196	rs1555955290	NC_000023.11:18628700:AGA:A	Deletion	frameshift variant|intron variant	Likely pathogenic	7-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	WDR37	T125I	WDR37-related disorder|Congenital cerebellar hypoplasia|Epilepsy|Developmental delay|Intellectual disability|Dysmorphism|Congenital ocular coloboma|Neurooculocardiogenitourinary syndrome	VCV000440948	10	1126394	10	1080454	440948	434634	rs1554823375	NC_000010.11:1080453:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	2-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	LOC129931299|WARS2|WARS2-AS1	W13G	"Inborn genetic diseases|not provided|WARS2-related disorder|Neurodevelopmental disorder|Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures|Parkinsonism-dystonia 3, childhood-onset"	VCV000440915	1	119683231	1	119140608	440915	434543	rs139548132	NC_000001.11:119140607:A:C	single nucleotide variant	missense variant|non-coding transcript variant|5 prime UTR variant	Conflicting classifications of pathogenicity	29-Jan-24	"criteria provided, conflicting classifications"						
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	MSTO1	"T324I, T146I, T147I, T143I, T269I"	Inborn genetic diseases|Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided	VCV000438833	1	155582639	1	155612848	438833	432466	rs622288	NC_000001.11:155612847:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	25-May-23	"criteria provided, conflicting classifications"						
NM_023936.2(MRPS34):c.322-10G>A	MRPS34		not provided|Combined oxidative phosphorylation deficiency 32	VCV000438633	16	1822657	16	1772656	438633	432254	rs563189672	NC_000016.10:1772655:C:T	single nucleotide variant	intron variant	Pathogenic	28-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)	ANK3	T1861M	not specified|ANK3-related disorder|not provided|Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	VCV000434168	10	61835057	10	60075299	434168	429099	rs117475706	NC_000010.11:60075298:G:A	single nucleotide variant	missense variant|intron variant	Conflicting classifications of pathogenicity	1-Mar-24	"criteria provided, conflicting classifications"						
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn)	ANK3	K2864N	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome|not specified|not provided	VCV000434160	10	61832047	10	60072289	434160	429089	rs186051700	NC_000010.11:60072288:C:A	single nucleotide variant	missense variant|intron variant	Conflicting classifications of pathogenicity	18-Apr-23	"criteria provided, conflicting classifications"						
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)	KIF21A	"L651P, L664P"	not provided	VCV000432077	12	39734827	12	39341025	432077	425974	rs1555167299	NC_000012.12:39341024:A:G	single nucleotide variant	missense variant	Likely pathogenic	26-Oct-17	"criteria provided, single submitter"						
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)	COL1A2	P809S	"Osteogenesis imperfecta|Predisposition to dissection|not specified|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I|Connective tissue disorder|Ehlers-danlos syndrome, arthrochalasia type, 2|not provided|Cardiovascular phenotype"	VCV000431901	7	94052290	7	94422978	431901	425770	rs145355907	NC_000007.14:94422977:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	20-Jan-24	"criteria provided, conflicting classifications"						
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	CAMK2B	P139L	"Intellectual disability, autosomal dominant 54|not provided|Inborn genetic diseases|Abnormality of the nervous system"	VCV000430922	7	44283125	7	44243526	430922	424467	rs1554389088	NC_000007.14:44243525:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	22-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_001371727.1(GABRB2):c.904G>A (p.Val302Met)	GABRB2	V302M	"Epileptic encephalopathy, infantile or early childhood, 2|not provided"	VCV000427157	5	160758063	5	161331056	427157	414996	rs1085307993	NC_000005.10:161331055:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	31-Jul-18	"criteria provided, multiple submitters, no conflicts"						
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)	NBAS	V842F	not provided|Infantile liver failure syndrome 2	VCV000427078	2	15564492	2	15424368	427078	414823	rs1085307944	NC_000002.12:15424367:C:A	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	13-Jun-22	"criteria provided, conflicting classifications"						
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)	PIGN	L311W	Multiple congenital anomalies-hypotonia-seizures syndrome 1|not provided|Inborn genetic diseases	VCV000426983	18	59810570	18	62143337	426983	415608	rs746882521	NC_000018.10:62143336:A:C	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	26-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)	COL7A1	M1V	not provided|Recessive dystrophic epidermolysis bullosa	VCV000424625	3	48632592	3	48595159	424625	411523	rs1064797078	NC_000003.12:48595158:T:C	single nucleotide variant	missense variant|initiator_codon_variant	Pathogenic	14-Feb-22	"criteria provided, multiple submitters, no conflicts"						
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)	DYNC1H1	R1623Q	"Charcot-Marie-Tooth disease axonal type 2O|not provided|Intellectual disability, autosomal dominant 13"	VCV000424046	14	102469287	14	102002950	424046	409059	rs1064796765	NC_000014.9:102002949:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	16-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_005198.5(CHKB):c.224+5G>C	CHKB|CHKB-CPT1B		not provided|Megaconial type congenital muscular dystrophy	VCV000423804	22	51020982	22	50582553	423804	411046	rs765251030	NC_000022.11:50582552:C:G	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	28-Aug-23	"criteria provided, conflicting classifications"						
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)	CHRNA3	L303fs	CHRNA3-related disorder|not provided	VCV000422654	15	78894076 - 78894077	15	78601734 - 78601735	422654	409352	rs538193392	NC_000015.10:78601733:AG:	Deletion	frameshift variant|non-coding transcript variant	Conflicting classifications of pathogenicity	30-Jan-23	"criteria provided, conflicting classifications"						
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	MORC2	"R132C, R70C"	"Neurodevelopmental disorder|not provided|MORC2-related developmental disorder|MORC2-related disorder|not specified|Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy|Charcot-Marie-Tooth disease axonal type 2Z"	VCV000422103	22	31342360	22	30946373	422103	410985	rs1064795559	NC_000022.11:30946372:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	18-Jan-24	"criteria provided, conflicting classifications"						
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)	HGSNAT	"G423W, G359W, G135W"	"Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C|Retinal dystrophy|not provided"	VCV000422050	8	43047463	8	43192320	422050	407393	rs1064795522	NC_000008.11:43192319:G:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	30-Aug-23	"criteria provided, conflicting classifications"						
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser)	TUBB2A	"G132S, G47S"	Complex cortical dysplasia with other brain malformations 5|not provided	VCV000421613	6	3155041	6	3154807	421613	406854	rs1064795249	NC_000006.12:3154806:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	8-Apr-22	"criteria provided, multiple submitters, no conflicts"						
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)	FAT4	"D2672V, D2674V"	Van Maldergem syndrome 2|FAT4-related disorder|not provided	VCV000420323	4	126370186	4	125449031	420323	406400	rs138655269	NC_000004.12:125449030:A:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	31-Jan-24	"criteria provided, conflicting classifications"						
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)	CDH1	"R749W, R688W, R233W, R94W"	CDH1-related diffuse gastric and lobular breast cancer syndrome	VCV000418841	16	68862157	16	68828254	418841	409709	rs776975632	NC_000016.10:68828253:C:T	single nucleotide variant	missense variant	Uncertain significance	28-Aug-23	reviewed by expert panel						
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	NACC1	R298W	"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|not provided|Inborn genetic diseases"	VCV000417784	19	13246913	19	13136099	417784	404685	rs1060505041	NC_000019.10:13136098:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	29-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_002693.3(POLG):c.641C>T (p.Ala214Val)	POLG|POLGARF	A214V	Progressive sclerosing poliodystrophy|not provided|Mitochondrial DNA depletion syndrome|Primary progressive multiple sclerosis|Inborn genetic diseases	VCV000405572	15	89876345	15	89333114	405572	400552	rs948866053	NC_000015.10:89333113:G:A	single nucleotide variant	missense variant	Uncertain significance	27-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	TSPEAR	"R197*, R129*"	"TSPEAR-related disorder|not specified|TSPEAR-related disorder of tooth and hair follicle morphogenesis|Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis|not provided|Inborn genetic diseases"	VCV000403572	21	45950970	21	44531087	403572	390603	rs139455627	NC_000021.9:44531086:G:A	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	17-Dec-23	"criteria provided, conflicting classifications"						
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)	COL4A1	G743V	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies|not provided	VCV000389182	13	110831734	13	110179387	389182	373299	rs1057523354	NC_000013.11:110179386:C:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	7-Feb-19	"criteria provided, multiple submitters, no conflicts"						
NM_198076.6(COX20):c.41A>G (p.Lys14Arg)	COX20|LOC129932912	K14R	"not provided|COX20-related disorder|Inborn genetic diseases|Mitochondrial complex 4 deficiency, nuclear type 11"	VCV000383938	1	244999057	1	244835755	383938	365161	rs1057521790	NC_000001.11:244835754:A:G	single nucleotide variant	missense variant|non-coding transcript variant|intron variant	Pathogenic	5-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)	SLC38A8	S305P	not provided|Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	VCV000383461	16	84050785	16	84017180	383461	375541	rs1057521634	NC_000016.10:84017179:A:G	single nucleotide variant	missense variant	Likely pathogenic	8-Apr-20	"criteria provided, multiple submitters, no conflicts"						
NM_198076.6(COX20):c.157+3G>C	COX20		"Mitochondrial complex 4 deficiency, nuclear type 11|not provided"	VCV000380082	1	245005363	1	244842061	380082	365162	rs367956888	NC_000001.11:244842060:G:C	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	26-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	IFIH1	E627*	not provided|IFIH1-related immunodeficiency|Immunodeficiency 95|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|IFIH1-related disorder|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Inborn genetic diseases|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7	VCV000377048	2	163134090	2	162277580	377048	363926	rs35744605	NC_000002.12:162277579:C:A	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	1-Mar-24	"criteria provided, conflicting classifications"						
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA	E453K	PIK3CA related overgrowth syndrome|CLOVES syndrome|Megalencephaly-capillary malformation-polymicrogyria syndrome|Cowden syndrome|PIK3CA-related disorder|not provided	VCV000376470	3	178928079	3	179210291	376470	363349	rs1057519925	NC_000003.12:179210290:G:A	single nucleotide variant	missense variant	Pathogenic	1-Jun-23	"criteria provided, multiple submitters, no conflicts"						
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	MTOR	C1483Y	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	VCV000376453	1	11217230	1	11157173	376453	363332	rs786205165	NC_000001.11:11157172:C:T	single nucleotide variant	missense variant	Pathogenic	17-Feb-22	reviewed by expert panel						
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)	HUWE1	R110Q	"Intellectual disability, X-linked syndromic, Turner type|not provided|Inborn genetic diseases"	VCV000375709	X	53674333	X	53647390	375709	362615	rs1557036768	NC_000023.11:53647389:C:T	single nucleotide variant	missense variant	Pathogenic	17-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	CACNA1A	"R1672P, R1673P, R1675P, R1678P"	"Developmental and epileptic encephalopathy, 52|Episodic ataxia type 2|Spinocerebellar ataxia type 6|Migraine, familial hemiplegic, 1"	VCV000375366	19	13346480	19	13235666	375366	362161	rs1057519429	NC_000019.10:13235665:C:G	single nucleotide variant	missense variant	Likely pathogenic	20-Mar-22	"criteria provided, single submitter"						
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)	KLF7	"D264N, D236N, D231N"	not provided|Neurodevelopmental disorder|Inborn genetic diseases|KLF7-related disorder	VCV000374233	2	207953249	2	207088525	374233	361122	rs1057518995	NC_000002.12:207088524:C:T	single nucleotide variant	synonymous variant|missense variant|non-coding transcript variant	Pathogenic/Likely pathogenic	5-Jul-23	"criteria provided, multiple submitters, no conflicts"						
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)	ADNP	V180fs	not provided|Inborn genetic diseases|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	VCV000373314	20	49510709 - 49510712	20	50894172 - 50894175	373314	360425	rs1057518345	NC_000020.11:50894171:CTAACTA:CTA	Deletion	frameshift variant	Pathogenic	1-Feb-24	"criteria provided, multiple submitters, no conflicts"						
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	DYNC1H1	P776L	Charcot-Marie-Tooth disease axonal type 2O|Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures|not provided	VCV000372934	14	102452889	14	101986552	372934	360017	rs1057518083	NC_000014.9:101986551:C:T	single nucleotide variant	missense variant	Pathogenic	28-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	SLC38A8	D283A	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome|not provided	VCV000372508	16	84050850	16	84017245	372508	360301	rs139373929	NC_000016.10:84017244:T:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	31-Jan-24	"criteria provided, conflicting classifications"						
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	IKBKG	"E390fs, E389fs, E291fs, E458fs, E267fs, E338fs"	Ectodermal dysplasia and immunodeficiency 1|Incontinentia pigmenti syndrome|Immunodeficiency 33|not provided|Incontinentia pigmenti syndrome	VCV000372387	X	153792576 - 153792577	X	154564361 - 154564362	372387	360602	rs782178147	NC_000023.11:154564361:CCCCCCC:CCCCCCCC	Duplication	frameshift variant|non-coding transcript variant	Pathogenic	14-Dec-22	"criteria provided, multiple submitters, no conflicts"						
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	PYROXD1	"N155S, N84S"	Myofibrillar myopathy 8|not provided	VCV000372280	12	21605064	12	21452130	372280	359188	rs781565158	NC_000012.12:21452129:A:G	single nucleotide variant	missense variant|intron variant	Pathogenic	6-Feb-23	"criteria provided, multiple submitters, no conflicts"						
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)	DNAH11	R2243*	Primary ciliary dyskinesia 7|not provided|Primary ciliary dyskinesia	VCV000289324	7	21750214	7	21710596	289324	273561	rs201943194	NC_000007.14:21710595:C:T	single nucleotide variant	nonsense	Pathogenic	12-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000478.6(ALPL):c.673T>C (p.Tyr225His)	ALPL	"Y225H, Y148H, Y170H"	Adult hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|not provided	VCV000287114	1	21894621	1	21568128	287114	271351	rs759125473	NC_000001.11:21568127:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	29-Jan-24	"criteria provided, conflicting classifications"						
NM_170707.4(LMNA):c.937-22_937-10del	LMNA		not provided|Congenital muscular dystrophy due to LMNA mutation	VCV000285758	1	156105670 - 156105682	1	156135875 - 156135887	285758	269995	rs886043199	NC_000001.11:156135874:CACCAAACCCTCCCACC:CACC	Deletion	intron variant	Conflicting classifications of pathogenicity	7-Jan-20	"criteria provided, conflicting classifications"						
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B	"M415T, M357T"	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Hypogonadotropic hypogonadism 7 with or without anosmia|not provided|See cases|not specified|POLR3-related leukodystrophy|Inborn genetic diseases|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	VCV000285205	12	106821117	12	106427339	285205	269442	rs199504211	NC_000012.12:106427338:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	24-Jan-24	"criteria provided, conflicting classifications"						
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	KCNA2	R294H	"Inborn genetic diseases|Developmental and epileptic encephalopathy, 32|not provided"	VCV000280584	1	111146524	1	110603902	280584	263933	rs886041761	NC_000001.11:110603901:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	1-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON	"R291Q, R257Q"	See cases|not provided|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy	VCV000280026	1	26135641	1	25809150	280026	264017	rs199564797	NC_000001.11:25809149:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	26-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_016955.5(SEPSECS):c.808dup	SEPSECS		not provided|Inborn genetic diseases|Pontocerebellar hypoplasia type 2D	VCV000279890	4	25146751 - 25146752	4	25145129 - 25145130	279890	264173	rs776969714	NC_000004.12:25145129:CCCCC:CCCCCC	Duplication	splice acceptor variant	Pathogenic/Likely pathogenic	29-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP	R730*	not provided|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|Inborn genetic diseases	VCV000279598	20	49509063	20	50892526	279598	263863	rs886041116	NC_000020.11:50892525:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	1-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)	NTRK2	"Y434C, Y422C, Y278C, Y421C"	"Developmental and epileptic encephalopathy, 58|Inborn genetic diseases|not provided"	VCV000268204	9	87366905	9	84751990	268204	263820	rs886041091	NC_000009.12:84751989:A:G	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	17-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3	R163Q	"Intellectual disability|Global developmental delay|Expressive language delay|Hypotonia|Dyssynergia|Inborn genetic diseases|Isolated Pierre-Robin syndrome|Hypotonia, ataxia, and delayed development syndrome|not provided"	VCV000268156	10	131755588	10	129957324	268156	263783	rs1057519389	NC_000010.11:129957323:C:T	single nucleotide variant	missense variant	Pathogenic	2-Oct-22	"criteria provided, multiple submitters, no conflicts"						
NM_018263.6(ASXL2):c.2424del (p.Thr809fs)	ASXL2	"T809fs, T549fs, T751fs"	Shashi-Pena syndrome	VCV000268122	2	25966782	2	25743913	268122	263648	rs886041065	NC_000002.12:25743912:GGGG:GGG	Deletion	frameshift variant	Pathogenic	16-Jan-17	"criteria provided, single submitter"						
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	NR5A1	R92W	"Oligosynaptic infertility|46,XY disorder of sex development|46,XY sex reversal 3|not provided|46,XX sex reversal 4"	VCV000265792	9	127262965	9	124500686	265792	260482	rs886039769	NC_000009.12:124500685:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	16-Sep-21	"criteria provided, conflicting classifications"						
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)	NPHP3-ACAD11|UBA5	"R188*, R98*, R76*, R132*"	"not provided|Developmental and epileptic encephalopathy, 44|Spinocerebellar ataxia, autosomal recessive 24"	VCV000265749	3	132389876	3	132671032	265749	260381	rs374052333	NC_000003.12:132671031:C:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	22-Apr-21	"criteria provided, multiple submitters, no conflicts"						
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	NPHP3-ACAD11|UBA5	"A371T, A315T, A259T, A281T"	"UBA5-related disorder|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 44|not provided|Developmental and epileptic encephalopathy, 44|Spinocerebellar ataxia, autosomal recessive 24"	VCV000265745	3	132394747	3	132675903	265745	260377	rs114925667	NC_000003.12:132675902:G:A	single nucleotide variant	missense variant	"Pathogenic/Likely pathogenic/Pathogenic, low penetrance"	29-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	KCNMA1|KCNMA1-AS1	"N995S, N999S, N1053S, N1025S, N1026S, N1029S, N1036S, N844S, N945S, N998S"	not provided|Generalized epilepsy-paroxysmal dyskinesia syndrome	VCV000265313	10	78651467	10	76891709	265313	259940	rs886039469	NC_000010.11:76891708:T:C	single nucleotide variant	missense variant	Pathogenic	22-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	CCDST|FLG	R826*	"FLG-related disorder|Dermatitis, atopic, 2|not provided|Ichthyosis vulgaris"	VCV000265156	1	152284886	1	152312410	265156	259630	rs115746363	NC_000001.11:152312409:G:A	single nucleotide variant	nonsense	Conflicting classifications of pathogenicity	24-Feb-23	"criteria provided, conflicting classifications"						
NM_015602.4(TOR1AIP1):c.554-4G>A	TOR1AIP1		not provided|not specified|Autosomal recessive limb-girdle muscular dystrophy type 2Y	VCV000257701	1	179858444	1	179889309	257701	249563	rs2245425	NC_000001.11:179889308:G:A	single nucleotide variant	splice acceptor variant|intron variant	Conflicting classifications of pathogenicity	1-Feb-24	"criteria provided, conflicting classifications"						
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON	V1918fs	Failure to thrive|Global developmental delay|Inborn genetic diseases|not provided|See cases|ZTTK syndrome	VCV000252929	21	34927288 - 34927291	21	33554982 - 33554985	252929	247331	rs886039773	NC_000021.9:33554981:AGTTAG:AG	Deletion	frameshift variant|non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	16-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)	SMO	L412F	Curry-Jones syndrome	VCV000245609	7	128846398	7	129206557	245609	245206	rs879255280	NC_000007.14:129206556:C:T	single nucleotide variant	missense variant	Pathogenic	22-Mar-19	"criteria provided, single submitter"						
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	AGRN	"G1675S, G1570S"	Congenital myasthenic syndrome 8	VCV000243039	1	985853	1	1050473	243039	244113	rs764160563	NC_000001.11:1050472:G:A	single nucleotide variant	missense variant	Uncertain significance	23-Mar-21	"criteria provided, single submitter"						
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	ADSS1	"D304N, D261N, D56N"	"ADSS1-related disorder|Myopathy, distal, 5|not provided"	VCV000243025	14	105207568	14	104741231	243025	244107	rs140614802	NC_000014.9:104741230:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	30-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)	TTN|TTN-AS1	"T34319del, T25379del, T31751del, T25254del, T32678del, T25446del"	Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J	VCV000242429	2	179398384 - 179398386	2	178533657 - 178533659	242429	226448	rs878854378	NC_000002.12:178533656:TTGTT:TT	Deletion	inframe_deletion	Conflicting classifications of pathogenicity	6-Dec-23	"criteria provided, conflicting classifications"						
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	TTN|TTN-AS1	"R20908*, R19267*, R18340*, R12035*, R11843*, R11968*"	Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|not provided|Cardiovascular phenotype	VCV000242424	2	179453730	2	178589003	242424	226455	rs543860009	NC_000002.12:178589002:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	16-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)	HECW2	"E1445G, E1089G"	"Neurodevelopmental disorder with hypotonia, seizures, and absent language"	VCV000242326	2	197084837	2	196220113	242326	243871	rs878854424	NC_000002.12:196220112:T:C	single nucleotide variant	missense variant	Uncertain significance	7-Mar-18	"criteria provided, single submitter"						
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)	CRELD1	C192Y	"not provided|CRELD1-related disorder|Atrioventricular septal defect, susceptibility to, 2"	VCV000238218	3	9982648	3	9940964	238218	239296	rs201866563	NC_000003.12:9940963:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Uncertain significance	1-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)	NLRP3	"S728G, S726G"	"Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|not specified|not provided|Autoinflammatory syndrome|Familial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|NLRP3-related disorder"	VCV000234290	1	247592912	1	247429610	234290	231483	rs147946775	NC_000001.11:247429609:A:G	single nucleotide variant	missense variant|intron variant	Conflicting classifications of pathogenicity	6-Feb-24	"criteria provided, conflicting classifications"						
NM_005186.4(CAPN1):c.1605+5G>A	CAPN1		not provided|Autosomal recessive spastic paraplegia type 76	VCV000225768	11	64974295	11	65206824	225768	227583	rs375817528	NC_000011.10:65206823:G:A	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	27-Apr-23	"criteria provided, multiple submitters, no conflicts"						
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	GBE1		not provided|Adult polyglucosan body disease	VCV000225145	3	81542964 - 81542972	3	81493813 - 81493821	225145	227045	rs869320698	NC_000003.12:81493812:CCACCACAC:ACCTGTCATGTAAAAAACA	Indel	intron variant	Pathogenic/Likely pathogenic	27-Jan-22	"criteria provided, multiple submitters, no conflicts"						
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1	"P200L, P228L, P44L"	"Autosomal recessive nonsyndromic hearing loss 89|KARS-related disorder|Inborn genetic diseases|not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness|Charcot-Marie-Tooth disease recessive intermediate B|KARS1-related disorder"	VCV000224983	16	75669880	16	75635982	224983	226957	rs201650281	NC_000016.10:75635981:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	4-Apr-24	"criteria provided, multiple submitters, no conflicts"						
NM_152906.5(TANGO2):c.57-1743_*10769del	TANGO2		Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome|Cardiac arrhythmia|Seizure|Acute rhabdomyolysis|Episodic flaccid weakness|Intellectual disability	VCV000224770	22	20029135 - 20062954	22	20041612 - 20075431	224770	226589			Deletion		Pathogenic	11-Apr-16	"criteria provided, multiple submitters, no conflicts"						
NM_019109.5(ALG1):c.1187+3A>G	ALG1		Congenital disorder of glycosylation|not provided|ALG1-congenital disorder of glycosylation|Congenital disorder of glycosylation type I|ALG1-related disorder|Encephalopathy	VCV000224118	16	5132677	16	5082676	224118	225848	rs369160589	NC_000016.10:5082675:A:G	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	26-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	LARP7	"T107I, T28I"	"not provided|not specified|Microcephalic primordial dwarfism, Alazami type"	VCV000218568	4	113567760	4	112646604	218568	215296	rs200393300	NC_000004.12:112646603:C:T	single nucleotide variant	missense variant	Uncertain significance	25-Jul-23	"criteria provided, multiple submitters, no conflicts"						
NM_001395891.1(CLASP1):c.196-672A>G	RNU4ATAC|CLASP1		not provided	VCV000218087	2	122288573	2	121530997	218087	214741	rs863225423	NC_000002.12:121530996:T:C	single nucleotide variant	non-coding transcript variant|intron variant	Conflicting classifications of pathogenicity	31-Aug-22	"criteria provided, conflicting classifications"						
NM_001395891.1(CLASP1):c.196-602C>T	CLASP1|RNU4ATAC		"Lowry-Wood syndrome|RNU4ATAC-related spliceosomopathies|Roifman syndrome|Roifman syndrome|Osteodysplastic primordial dwarfism, type 1|Lowry-Wood syndrome|not provided"	VCV000218085	2	122288503	2	121530927	218085	214739	rs863225422	NC_000002.12:121530926:G:A	single nucleotide variant	non-coding transcript variant|intron variant	Conflicting classifications of pathogenicity	26-Mar-24	"criteria provided, conflicting classifications"						
NM_001395891.1(CLASP1):c.196-567G>A	CLASP1|RNU4ATAC		"Roifman syndrome|Osteodysplastic primordial dwarfism, type 1|Lowry-Wood syndrome|RNU4ATAC-related disorder|Roifman syndrome|not provided"	VCV000218083	2	122288468	2	121530892	218083	214737	rs559979281	NC_000002.12:121530891:C:T	single nucleotide variant	non-coding transcript variant|intron variant	Conflicting classifications of pathogenicity	8-Mar-24	"criteria provided, conflicting classifications"						
NM_001395891.1(CLASP1):c.196-570C>T	CLASP1|RNU4ATAC		"Roifman syndrome|Osteodysplastic primordial dwarfism, type 1|Lowry-Wood syndrome|Roifman syndrome|Intellectual disability|Short stature|not provided"	VCV000218082	2	122288471	2	121530895	218082	214736	rs750325275	NC_000002.12:121530894:G:A	single nucleotide variant	non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	4-Apr-24	"criteria provided, multiple submitters, no conflicts"						
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	PEX6	P274L	not provided|Peroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder 4B|Inborn genetic diseases|Peroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder 4B|Heimler syndrome 2|Peroxisome biogenesis disorder	VCV000217424	6	42946068	6	42978330	217424	214063	rs61753219	NC_000006.12:42978329:G:A	single nucleotide variant	missense variant|non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	19-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	ALDH18A1	"R252Q, R139Q, R217Q, R141Q, R250Q, R40Q"	"Autosomal dominant spastic paraplegia type 9|de Barsy syndrome|Cutis laxa, autosomal dominant 3|not provided|ALDH18A1 deficiency|Hereditary spastic paraplegia 9A"	VCV000217117	10	97392769	10	95633012	217117	213762	rs864321670	NC_000010.11:95633011:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	11-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	RARS2	F140C	not provided|Inborn genetic diseases|Pontocerebellar hypoplasia type 6|Pontoneocerebellar hypoplasia	VCV000215055	6	88258341	6	87548623	215055	211289	rs772887102	NC_000006.12:87548622:A:C	single nucleotide variant	non-coding transcript variant|missense variant|5 prime UTR variant|intron variant	Pathogenic/Likely pathogenic	13-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg)	NUBPL	G56R	"Inborn genetic diseases|not provided|Mitochondrial complex 1 deficiency, nuclear type 21"	VCV000214885	14	32031331	14	31562125	214885	15046	rs200401432	NC_000014.9:31562124:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	5-Jul-22	"criteria provided, conflicting classifications"						
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	ATP7A	G666R	"Menkes kinky-hair syndrome|Cutis laxa, X-linked"	VCV000210411	X	77266995	X	78011498	210411	209236	rs797045344	NC_000023.11:78011497:G:C	single nucleotide variant	missense variant	Pathogenic	24-Jan-20	"criteria provided, multiple submitters, no conflicts"						
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)	TANGO2	"G154R, G120R, G56R, G92R, G133R, G195R"	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome|Episodic flaccid weakness|Cardiac arrhythmia|Acute rhabdomyolysis|Intellectual disability|Seizure|not provided	VCV000208823	22	20049061	22	20061538	208823	205385	rs752298579	NC_000022.11:20061537:G:A	single nucleotide variant	missense variant|non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	3-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	GRIN2B	G820A	"Inborn genetic diseases|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|not provided|Intellectual disability, autosomal dominant 6"	VCV000208643	12	13720098	12	13567164	208643	205273	rs797044849	NC_000012.12:13567163:C:G	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	13-Mar-23	"criteria provided, multiple submitters, no conflicts"						
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	AFG2A	"T330del, T329del"	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome|not provided	VCV000207828	4	123855729 - 123855731	4	122934574 - 122934576	207828	204062	rs796052243	NC_000004.12:122934573:CAACAACAA:CAACAA	Microsatellite	inframe_deletion	Pathogenic/Likely pathogenic	29-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_002693.3(POLG):c.391T>C (p.Tyr131His)	POLG|POLGARF	Y131H	POLG-related disorder|Inborn genetic diseases|Progressive sclerosing poliodystrophy|not provided|Mitochondrial DNA depletion syndrome|Primary progressive multiple sclerosis|not specified|POLG-Related Spectrum Disorders	VCV000206492	15	89876595	15	89333364	206492	203048	rs562847013	NC_000015.10:89333363:A:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Apr-24	"criteria provided, conflicting classifications"						
NM_153033.5(KCTD7):c.456G>A (p.Val152=)	KCTD7		not provided|Progressive myoclonic epilepsy type 3	VCV000206004	7	66103381	7	66638394	206004	202138	rs796052686	NC_000007.14:66638393:G:A	single nucleotide variant	synonymous variant	Conflicting classifications of pathogenicity	17-Mar-23	"criteria provided, conflicting classifications"						
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	GABRG2	"A106T, A103T, A11T, A77T, A84T"	"Inborn genetic diseases|Febrile seizures, familial, 8|Developmental and epileptic encephalopathy, 74|Febrile seizures, familial, 8|Epilepsy, childhood absence 2|Developmental and epileptic encephalopathy, 74|not provided"	VCV000205541	5	161522557	5	162095551	205541	201880	rs796052505	NC_000005.10:162095550:G:A	single nucleotide variant	missense variant|5 prime UTR variant	Pathogenic/Likely pathogenic	3-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	MCCC2	"V339M, V301M"	Inborn genetic diseases|not provided|Methylcrotonyl-CoA carboxylase deficiency|See cases|MCCC2-related disorder|3-methylcrotonyl-CoA carboxylase 2 deficiency	VCV000203805	5	70936845	5	71641018	203805	200099	rs150591260	NC_000005.10:71641017:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	25-Mar-24	"criteria provided, conflicting classifications"						
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	WFS1	R558C	not provided|Wolfram syndrome 1|Type 2 diabetes mellitus|Wolfram syndrome|not specified|WFS1-related disorder|WFS1-Related Spectrum Disorders	VCV000198835	4	6303194	4	6301467	198835	195995	rs199946797	NC_000004.12:6301466:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	17-Jan-24	"criteria provided, conflicting classifications"						
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)	BCKDK	A283T	not provided|Branched-chain keto acid dehydrogenase kinase deficiency	VCV000193684	16	31122622	16	31111301	193684	190847	rs760851100	NC_000016.10:31111300:G:A	single nucleotide variant	missense variant|intron variant	Uncertain significance	25-Sep-18	"criteria provided, multiple submitters, no conflicts"						
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	ACADM	"G314R, G310R, G121R, G274R, G343R"	Medium-chain acyl-coenzyme A dehydrogenase deficiency	VCV000193539	1	76216214	1	75750529	193539	190703	rs747268471	NC_000001.11:75750528:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	11-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val)	CACNA1C	"L1360V, L1408V, L1349V, L1377V, L1357V, L1380V, L1347V, L1388V, L1382V"	CACNA1C-related disorder	VCV000190670	12	2763004	12	2653838	190670	188597	rs752125137	NC_000012.12:2653837:C:G	single nucleotide variant	missense variant	Uncertain significance	28-Feb-20	"criteria provided, single submitter"						
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	MAGEL2	Q666fs	Schaaf-Yang syndrome|not provided|Inborn genetic diseases|Neurodevelopmental delay|See cases|Neurodevelopmental disorder	VCV000190122	15	23890893 - 23890894	15	23645746 - 23645747	190122	187954	rs770374710	NC_000015.10:23645746:GGGGGGG:GGGGGGGG	Duplication	frameshift variant	Pathogenic	5-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	HADHA	S92fs	not provided|HADHA-related disorder|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	VCV000189105	2	26459759 - 26459763	2	26236891 - 26236895	189105	186668	rs781205883	NC_000002.12:26236890:GATGAGAT:GAT	Deletion	frameshift variant	Pathogenic/Likely pathogenic	1-Apr-24	"criteria provided, multiple submitters, no conflicts"						
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)	BARD1	"E268fs, E287fs"	Familial cancer of breast|Hereditary cancer-predisposing syndrome	VCV000185015	2	215645737 - 215645738	2	214781013 - 214781014	185015	181825	rs786201868	NC_000002.12:214781012:CTCT:CT	Microsatellite	frameshift variant|non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	27-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)	MRE11	R576*	Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder	VCV000184445	11	94180442	11	94447276	184445	183503	rs774277300	NC_000011.10:94447275:G:A	single nucleotide variant	nonsense	Pathogenic	11-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)	NPC1	E1089K	"Niemann-Pick disease, type C1"	VCV000181458	18	21115645	18	23535681	181458	179793	rs374526072	NC_000018.10:23535680:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	17-Oct-23	"criteria provided, conflicting classifications"						
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	SLC17A5	T178fs	not provided|Salla disease	VCV000167693	6	74348215	6	73638492	167693	178074	rs727504156	NC_000006.12:73638491:G:	Deletion	frameshift variant	Pathogenic/Likely pathogenic	28-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_004130.4(GYG1):c.487del (p.Asp163fs)	GYG1	D163fs	Polyglucosan body myopathy type 2|not provided|Glycogen storage disease XV|Glycogen storage disease XV|Polyglucosan body myopathy type 2	VCV000162665	3	148727065	3	149009278	162665	172319	rs727502871	NC_000003.12:149009277:GGGG:GGG	Deletion	frameshift variant	Pathogenic	1-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_004130.4(GYG1):c.143+3G>C	GYG1		Polyglucosan body myopathy type 2|not provided|Glycogen storage disease XV|Glycogen storage disease XV|Polyglucosan body myopathy type 2	VCV000162661	3	148712067	3	148994280	162661	172315	rs370652040	NC_000003.12:148994279:G:C	single nucleotide variant	intron variant	Pathogenic/Likely pathogenic	10-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	AFG3L2	M625I	not provided|Spinocerebellar ataxia type 28	VCV000162524	18	12340305	18	12340306	162524	172197	rs727502823	NC_000018.10:12340305:C:T	single nucleotide variant	missense variant	Likely pathogenic	3-May-22	"criteria provided, multiple submitters, no conflicts"						
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)	KCNC1	R320H	Progressive myoclonic epilepsy type 7|Inborn genetic diseases|not provided	VCV000162519	11	17793600	11	17772053	162519	172192	rs727502818	NC_000011.10:17772052:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	2-Aug-23	"criteria provided, multiple submitters, no conflicts"						
NM_000264.5(PTCH1):c.395-1G>A	PTCH1		Gorlin syndrome|Hereditary cancer-predisposing syndrome|not provided|PTCH1-related disorder	VCV000162510	9	98248157	9	95485875	162510	172176	rs368869806	NC_000009.12:95485874:C:T	single nucleotide variant	splice acceptor variant	Conflicting classifications of pathogenicity	22-Jan-24	"criteria provided, conflicting classifications"						
NM_177972.3(TUB):c.1194_1195del (p.Arg398fs)	TUB|RIC3	"R398fs, R453fs"	Retinal dystrophy and obesity	VCV000162490	11	8122122 - 8122123	11	8100575 - 8100576	162490	172164	rs727502810	NC_000011.10:8100574:GAGAGAG:GAGAG	Microsatellite	frameshift variant	Pathogenic	26-Aug-19	"criteria provided, single submitter"						
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	ATP1A3	"R756H, R769H, R767H"	Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|ATP1A3-associated neurological disorder|Inborn genetic diseases|not specified|not provided|Alternating hemiplegia of childhood 2	VCV000161134	19	42474691	19	41970539	161134	170985	rs606231435	NC_000019.10:41970538:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	1-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	PLA2G6	L129P	Inborn genetic diseases|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration|not specified|Iron accumulation in brain|not provided	VCV000159768	22	38541484	22	38145477	159768	169816	rs374746113	NC_000022.11:38145476:A:G	single nucleotide variant	missense variant|5 prime UTR variant	Conflicting classifications of pathogenicity	18-Jan-24	"criteria provided, conflicting classifications"						
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)	PLA2G6	"R710C, R484C, R478C, R532C, R656C"	PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy|Iron accumulation in brain	VCV000159759	22	38509568	22	38113561	159759	169769	rs587784347	NC_000022.11:38113560:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	24-Jan-23	"criteria provided, conflicting classifications"						
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)	PURA	L100P	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	VCV000156407	5	139494065	5	140114480	156407	166186	rs587782995	NC_000005.10:140114479:T:C	single nucleotide variant	missense variant	Likely pathogenic	5-Aug-17	"criteria provided, single submitter"						
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	CDKL5	R550*	"not provided|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2"	VCV000143780	X	18622692	X	18604572	143780	153512	rs267608643	NC_000023.11:18604571:C:T	single nucleotide variant	nonsense	Pathogenic	1-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	MECP2	"L398fs, L293fs, L163fs"	See cases|not provided|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly	VCV000143369	X	153296082 - 153296122	X	154030631 - 154030671	143369	153101	rs267608327	NC_000023.11:154030630:GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT:GGGGT	Deletion	frameshift variant	Pathogenic/Likely pathogenic	22-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA	R31*	"Paragangliomas 5|Leigh syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Neurodegeneration with ataxia and late-onset optic atrophy|Dilated cardiomyopathy 1GG|Neurodegeneration with ataxia and late-onset optic atrophy|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Dilated cardiomyopathy 1GG|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|not provided|SDHA-related disorder|Pilocytic astrocytoma"	VCV000142601	5	223624	5	223509	142601	152315	rs142441643	NC_000005.10:223508:C:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	6-Feb-24	"criteria provided, multiple submitters, no conflicts"						
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	TUBB4A	"E410K, E461K, E338K, E455K"	Hypomyelinating leukodystrophy 6|not provided|Torsion dystonia 4|Hypomyelinating leukodystrophy 6|Cerebral palsy|Global developmental delay	VCV000135658	19	6495282	19	6495271	135658	139376	rs587777428	NC_000019.10:6495270:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	27-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)	LARP7|MIR302CHG	"E217D, E138D, E216D"	"not provided|Microcephalic primordial dwarfism, Alazami type"	VCV000129479	4	113568359	4	112647203	129479	134925	rs141178932	NC_000004.12:112647202:G:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Apr-24	"criteria provided, conflicting classifications"						
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)	PSEN1	"L381F, L377F"	"Alzheimer disease 3|Frontotemporal dementia|Alzheimer disease 3|Acne inversa, familial, 3|Pick disease"	VCV000120170	14	73683845	14	73217137	120170	125778	rs63750687	NC_000014.9:73217136:C:T	single nucleotide variant	missense variant	Likely pathogenic	4-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	PAH	Y386C	Phenylketonuria	VCV000102538	12	103237466	12	102843688	102538	108274	rs62516141	NC_000012.12:102843687:T:C	single nucleotide variant	missense variant	Pathogenic	15-May-21	reviewed by expert panel						
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	FOXG1	E154fs	FOXG1 disorder	VCV000095268	14	29236938 - 29236939	14	28767732 - 28767733	95268	101167	rs398124204	NC_000014.9:28767732:GGGGGGG:GGGGGGGG	Duplication	frameshift variant	Pathogenic	26-Mar-21	reviewed by expert panel						
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	IQCB1	"H373fs, H506fs"	not provided|Nephronophthisis|Senior-Loken syndrome 5	VCV000093469	3	121491452 - 121491453	3	121772605 - 121772606	93469	99374	rs398123538	NC_000003.12:121772604:TGTG:TG	Microsatellite	frameshift variant|non-coding transcript variant	Pathogenic	4-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	HCFC1	A115V	"Methylmalonic acidemia with homocystinuria, type cblX"	VCV000066984	X	153229734	X	153964283	66984	77869	rs397515485	NC_000023.11:153964282:G:A	single nucleotide variant	missense variant	Pathogenic	16-Feb-23	"criteria provided, multiple submitters, no conflicts"						
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	ALG13	"N107S, N3S, N109S, N29S"	"not provided|Seizure|Intellectual disability|Inborn genetic diseases|ALG13-related disorder|Developmental and epileptic encephalopathy, 36"	VCV000066086	X	110928268	X	111685040	66086	76988	rs398122394	NC_000023.11:111685039:A:G	single nucleotide variant	missense variant|synonymous variant|non-coding transcript variant	Pathogenic	18-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)	ERCC4	I800fs	"Xeroderma pigmentosum, group F"	VCV000055825	16	14041823 - 14041824	16	13947966 - 13947967	55825	70483	rs397509401	NC_000016.10:13947966:CTTACACTTCACTTCCCCAGACTACGGA:CTTACACTTCACTTCCCCAGACTACGGACTTACACTTCACTTCCCCAGACTACGGA	Duplication	frameshift variant	Likely pathogenic	21-Feb-21	"criteria provided, single submitter"						
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	CFTR	S945L	Cystic fibrosis|ivacaftor response - Efficacy	VCV000053575	7	117243762	7	117603708	53575	68243	rs397508442	NC_000007.14:117603707:C:T	single nucleotide variant	missense variant	Pathogenic; drug response	24-Mar-21	reviewed by expert panel						
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST|FLG	R2447*	"FLG-related disorder|Dermatitis, atopic, 2|not provided|Ichthyosis vulgaris|Ichthyosis vulgaris|Dermatitis, atopic, 2"	VCV000050932	1	152280023	1	152307547	50932	65594	rs138726443	NC_000001.11:152307546:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	25-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	GNAQ	R183Q	Angioosteohypertrophic syndrome|Hemangiomatosis|Segmental undergrowth associated with capillary malformation|not provided|Familial multiple nevi flammei|Capillary malformation|Sturge-Weber syndrome|Capillary malformation	VCV000050853	9	80412493	9	77797577	50853	59839	rs397514698	NC_000009.12:77797576:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	14-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_025152.3(NUBPL):c.815-27T>C	NUBPL		"Mitochondrial complex 1 deficiency, nuclear type 21|not provided|Mitochondrial complex I deficiency|Inborn genetic diseases"	VCV000050317	14	32319298	14	31850092	50317	59458	rs118161496	NC_000014.9:31850091:T:C	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	16-Feb-24	"criteria provided, conflicting classifications"						
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)	NUBPL	"D105Y, D9Y"	"Mitochondrial complex 1 deficiency, nuclear type 21|Inborn genetic diseases"	VCV000050215	14	32068516	14	31599310	50215	59375	rs397515440	NC_000014.9:31599309:G:T	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	24-Aug-20	"criteria provided, conflicting classifications"						
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)	TTN|TTN-AS1	"K27468Q, K24900Q, K25827Q, K18528Q, K18595Q, K18403Q"	"not specified|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Tibial muscular dystrophy"	VCV000047411	2	179428457	2	178563730	47411	56576	rs201958805	NC_000002.12:178563729:T:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	30-Mar-23	"criteria provided, conflicting classifications"						
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	DSP	R425*	Cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|DSP-related arrhythmogenic cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|not provided|Arrhythmogenic cardiomyopathy with wooly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	VCV000044856	6	7568676	6	7568443	44856	54023	rs397516915	NC_000006.12:7568442:C:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	17-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7	A510V	"not provided|Inborn genetic diseases|Hereditary spastic paraplegia|SPG7-related disorder|Hereditary spastic paraplegia 7|Spastic paraparesis|Gait ataxia|Cerebral cortical atrophy|Dysarthria|Spastic Paraplegia, Recessive|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Intellectual disability"	VCV000042016	16	89613145	16	89546737	42016	51184	rs61755320	NC_000016.10:89546736:C:T	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	22-May-24	"criteria provided, multiple submitters, no conflicts"						
NM_025137.4(SPG11):c.642del (p.Phe214fs)	SPG11	F214fs	Hereditary spastic paraplegia 11	VCV000041343	15	44951302	15	44659104	41343	49767	rs312262717	NC_000015.10:44659103:AAAAA:AAAA	Deletion	frameshift variant	Pathogenic	22-Nov-16	"criteria provided, single submitter"						
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)	MAP2K1	H119Y	not provided|RASopathy|MAP2K1-related rasopathy-like syndrome	VCV000040741	15	66729147	15	66436809	40741	49211	rs730880503	NC_000015.10:66436808:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	17-Sep-21	"criteria provided, conflicting classifications"						
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	KRAS	D119N	Autoimmune lymphoproliferative syndrome type 4|Acute myeloid leukemia|Cardiofaciocutaneous syndrome 2|Noonan syndrome 3|not provided|KRAS-related RASopathy	VCV000040460	12	25378643	12	25225709	40460	48930	rs730880471	NC_000012.12:25225708:C:T	single nucleotide variant	missense variant	Likely pathogenic	23-Sep-20	"criteria provided, multiple submitters, no conflicts"						
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu)	BRAF	"W531L, W443L, W479L, W494L, W497L, W509L, W534L, W571L"	Cardiofaciocutaneous syndrome 1	VCV000040379	7	140476814	7	140777014	40379	48849	rs397507478	NC_000007.14:140777013:C:A	single nucleotide variant	missense variant	Likely pathogenic	6-Aug-17	"criteria provided, single submitter"						
m.15923A>G	MT-TT		Mitochondrial disease|Sudden cardiac death|Neonatal onset|Infantile onset|Generalized hypotonia|Jaundice|Constipation|Failure to thrive	VCV000039575	MT	15923	MT	15923	39575	48174	rs1556424691	NC_012920.1:15922:A:G	single nucleotide variant		Conflicting classifications of pathogenicity	13-Mar-19	"criteria provided, conflicting classifications"						
NM_001395891.1(CLASP1):c.196-678C>T	RNU4ATAC|CLASP1		Roifman syndrome|not provided	VCV000039443	2	122288579	2	121531003	39443	48042	rs544312701	NC_000002.12:121531002:G:A	single nucleotide variant	non-coding transcript variant|intron variant	Pathogenic/Likely pathogenic	1-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17	W69*	"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Charcot-Marie-Tooth disease, axonal, type 2EE|MPV17-related mitochondrial DNA maintenance defect|not provided"	VCV000038348	2	27535620	2	27312753	38348	46911	rs267607261	NC_000002.12:27312752:C:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	7-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	KCTD7	R94W	Progressive myoclonic epilepsy type 3	VCV000037010	7	66098397	7	66633410	37010	45676	rs387907260	NC_000007.14:66633409:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	24-Nov-23	"criteria provided, conflicting classifications"						
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter)	ROGDI	Q96*	Amelocerebrohypohidrotic syndrome	VCV000031226	16	4850549	16	4800548	31226	40183	rs387907145	NC_000016.10:4800547:G:A	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic	18-Nov-20	"criteria provided, multiple submitters, no conflicts"						
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)	ARID1B	"R1075*, R365*, R1145*, R1158*, R1198*"	Inborn genetic diseases|ARID1B-related BAFopathy|not provided|Coffin-Siris syndrome 1	VCV000031216	6	157502190	6	157181056	31216	40173	rs387907144	NC_000006.12:157181055:C:T	single nucleotide variant	nonsense	Pathogenic	8-Dec-22	"criteria provided, multiple submitters, no conflicts"						
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B	"V523E, V465E"	"Charcot-Marie-Tooth disease, demyelinating, IIA 1I|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 7 with or without anosmia|Pol III-related leukodystrophy|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|POLR3B-related disorder|not specified|POLR3-related leukodystrophy|not provided|See cases"	VCV000031166	12	106826199	12	106432421	31166	40123	rs138249161	NC_000012.12:106432420:T:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	1-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)	POLR3B	"R550*, R492*"	not provided|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	VCV000031162	12	106827517	12	106433739	31162	40119	rs267608688	NC_000012.12:106433738:C:T	single nucleotide variant	nonsense	Pathogenic	22-Apr-22	"criteria provided, multiple submitters, no conflicts"						
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)	SRCAP	R2435*	not provided|Inborn genetic diseases|Floating-Harbor syndrome	VCV000030909	16	30748664	16	30737343	30909	39866	rs199469465	NC_000016.10:30737342:C:T	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	22-Oct-23	"criteria provided, multiple submitters, no conflicts"						
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	IQCB1	"R489*, R356*"	Nephronophthisis|Senior-Loken syndrome 5|Retinal dystrophy	VCV000030778	3	121491506	3	121772659	30778	39735	rs373909351	NC_000003.12:121772658:G:A	single nucleotide variant	nonsense|non-coding transcript variant	Pathogenic	8-Jan-23	"criteria provided, multiple submitters, no conflicts"						
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH	S298P	"Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-A|not provided"	VCV000030459	17	78185927	17	80212128	30459	39416	rs138504221	NC_000017.11:80212127:A:G	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic	26-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)	AFG3L2	G671R	Spinocerebellar ataxia type 28	VCV000030425	18	12337504	18	12337505	30425	39382	rs151344517	NC_000018.10:12337504:C:T	single nucleotide variant	missense variant	Pathogenic	18-Jul-17	"criteria provided, single submitter"						
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	MAP2K2	G132D	Cardiofaciocutaneous syndrome 4|not provided	VCV000030170	19	4110562	19	4110564	30170	39126	rs387906800	NC_000019.10:4110563:C:T	single nucleotide variant	missense variant	Likely pathogenic	23-Apr-20	"criteria provided, multiple submitters, no conflicts"						
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A	A263V	"SCN2A-related disorder|Epileptic encephalopathy|Seizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|not provided|Infantile spasms|Developmental and epileptic encephalopathy, 11"	VCV000029888	2	166166923	2	165310413	29888	38843	rs387906686	NC_000002.12:165310412:C:T	single nucleotide variant	missense variant	Pathogenic	8-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)	ACVR1	R206H	Inborn genetic diseases|Progressive myositis ossificans|not provided|ACVR1-related disorder|Epicanthus	VCV000018309	2	158630626	2	157774114	18309	33348	rs121912678	NC_000002.12:157774113:C:T	single nucleotide variant	missense variant	Pathogenic	17-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1	E366K	"COPD, severe early onset|Alpha-1-antitrypsin deficiency|Neurodevelopmental disorder|Inborn genetic diseases|not provided|Alpha-1-antitrypsin deficiency|Chronic obstructive pulmonary disease|See cases|SERPINA1-related disorder"	VCV000017967	14	94844947	14	94378610	17967	33006	rs28929474	NC_000014.9:94378609:C:T	single nucleotide variant	missense variant	Pathogenic; risk factor	12-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2	L90P	"Rare genetic deafness|Deafness|Nonsyndromic genetic hearing loss|Palmoplantar keratoderma-deafness syndrome|X-linked mixed hearing loss with perilymphatic gusher|Autosomal dominant nonsyndromic hearing loss 3A|Knuckle pads, deafness AND leukonychia syndrome|Autosomal recessive nonsyndromic hearing loss 1A|Mutilating keratoderma|Autosomal dominant keratitis-ichthyosis-hearing loss syndrome|Ichthyosis, hystrix-like, with hearing loss|Palmoplantar keratoderma-deafness syndrome|Autosomal dominant nonsyndromic hearing loss 3A|Knuckle pads, deafness AND leukonychia syndrome|Autosomal recessive nonsyndromic hearing loss 1A|Mutilating keratoderma|Autosomal dominant keratitis-ichthyosis-hearing loss syndrome|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Ichthyosis, hystrix-like, with hearing loss|Hearing impairment|See cases|not provided"	VCV000017016	13	20763452	13	20189313	17016	32055	rs80338945	NC_000013.11:20189312:A:G	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	29-Mar-24	"criteria provided, conflicting classifications"						
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4	R799W	"Cockayne syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|not provided|Xeroderma pigmentosum|not specified|Fanconi anemia complementation group Q|XFE progeroid syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|ERCC4-related disorder|Xeroderma pigmentosum, group F|Breast carcinoma"	VCV000016580	16	14041848	16	13947991	16580	31619	rs121913049	NC_000016.10:13947990:C:T	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Mar-24	"criteria provided, conflicting classifications"						
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST|FLG	R501*	"Atopic eczema|Ichthyosis vulgaris|Ichthyosis vulgaris|Dermatitis, atopic, 2|not provided|FLG-related disorder|Ichthyosis vulgaris|Eczematoid dermatitis|Dermatitis, atopic, 2"	VCV000016319	1	152285861	1	152313385	16319	31358	rs61816761	NC_000001.11:152313384:G:A	single nucleotide variant	nonsense	Pathogenic/Likely pathogenic	16-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	GNAS	"P115L, P100L, P101L, P116L, P758L, P56L"	not provided|Pseudohypoparathyroidism	VCV000015953	20	57478758	20	58903703	15953	30992	rs137854539	NC_000020.11:58903702:C:T	single nucleotide variant	missense variant|3 prime UTR variant	Pathogenic/Likely pathogenic	16-Dec-22	"criteria provided, multiple submitters, no conflicts"						
NR_003051.3(RMRP):n.71A>G	CCDC107|RMRP		"Anauxetic dysplasia|Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia 1|Metaphyseal dysplasia without hypotrichosis|RMRP-related disorder|Metaphyseal chondrodysplasia, McKusick type|not provided"	VCV000014208	9	35657945	9	35657948	14208	29247	rs199476103	NC_000009.12:35657947:T:C	single nucleotide variant	non-coding transcript variant	Pathogenic/Likely pathogenic	30-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SPINK1	N34S	Finnish congenital nephrotic syndrome|Tropical pancreatitis|Hereditary pancreatitis|not provided	VCV000013760	5	147207678	5	147828115	13760	28799	rs17107315	NC_000005.10:147828114:T:C	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity; association; risk factor	1-Feb-24	"criteria provided, conflicting classifications"						
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL	"E191K, E114K, E136K"	Inborn genetic diseases|not provided|Infantile hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Adult hypophosphatasia|Odontohypophosphatasia|Childhood hypophosphatasia|Osteogenesis imperfecta|Delayed skeletal maturation	VCV000013670	1	21890632	1	21564139	13670	28709	rs121918007	NC_000001.11:21564138:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	31-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)	POLG|POLGARF	P1073L	Progressive sclerosing poliodystrophy|not provided	VCV000013516	15	89862217	15	89318986	13516	28555	rs267606959	NC_000015.10:89318985:G:A	single nucleotide variant	missense variant	Pathogenic	23-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG|POLGARF	A467T	"Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|POLG-Related Spectrum Disorders|Inborn genetic diseases|Neurodevelopmental delay|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 1|Hereditary spastic paraplegia|POLG-related disorder|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|not provided|Tip-toe gait|Progressive sclerosing poliodystrophy"	VCV000013496	15	89870432	15	89327201	13496	28535	rs113994095	NC_000015.10:89327200:C:T	single nucleotide variant	missense variant	Pathogenic	1-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11	"Y63C, Y62C"	Noonan syndrome	VCV000013333	12	112888172	12	112450368	13333	28372	rs121918459	NC_000012.12:112450367:A:G	single nucleotide variant	missense variant	Pathogenic	3-Apr-17	reviewed by expert panel						
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	ATP1A3	"D923N, D936N, D934N"	ATP1A3-associated neurological disorder|Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|not provided|Alternating hemiplegia of childhood 2|Dystonia 12	VCV000012915	19	42472989	19	41968837	12915	27954	rs267606670	NC_000019.10:41968836:C:T	single nucleotide variant	missense variant	Pathogenic	8-Sep-23	"criteria provided, multiple submitters, no conflicts"						
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	MVK	"V377I, V325I"	"Hyperimmunoglobulin D with periodic fever|Inborn genetic diseases|Autoinflammatory syndrome|not provided|MVK-related disorder|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|not specified"	VCV000011929	12	110034320	12	109596515	11929	26968	rs28934897	NC_000012.12:109596514:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	26-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2	"R168*, R180*, R75*"	Inborn genetic diseases|Global developmental delay|Developmental regression|not provided|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome|Intellectual disability|MECP2-related disorder|Syndromic X-linked intellectual disability Lubs type	VCV000011828	X	153296777	X	154031326	11828	26867	rs61748421	NC_000023.11:154031325:G:A	single nucleotide variant	nonsense|intron variant	Pathogenic	14-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2	"R106W, R118W, R13W"	"not provided|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Autism, susceptibility to, X-linked 3|Rett syndrome|Syndromic X-linked intellectual disability Lubs type|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Inborn genetic diseases|not specified|Severe neonatal-onset encephalopathy with microcephaly"	VCV000011814	X	153297719	X	154032268	11814	26853	rs28934907	NC_000023.11:154032267:G:A	single nucleotide variant	missense variant|5 prime UTR variant	Pathogenic/Likely pathogenic	15-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NC_012920.1(MT-ATP6):m.8993T>C	MT-ATP6		Mitochondrial disease	VCV000009642	MT	8993	MT	8993	9642	24681	rs199476133	NC_012920.1:8992:T:C	single nucleotide variant		Pathogenic	17-Feb-21	reviewed by expert panel						
m.4291T>C	MT-TI		"Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial"	VCV000009607	MT	4291	MT	4291	9607	24646	rs121434471	NC_012920.1:4290:T:C	single nucleotide variant		Pathogenic	7-Jul-21	"criteria provided, single submitter"						
NC_012920.1(MT-TK):m.8344A>G	MT-TK		Mitochondrial disease	VCV000009579	MT	8344	MT	8344	9579	24618	rs118192098	NC_012920.1:8343:A:G	single nucleotide variant		Pathogenic	3-Nov-21	reviewed by expert panel						
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22	T118M	"not provided|not specified|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type IA|Hereditary liability to pressure palsies|Charcot-Marie-Tooth disease, type I"	VCV000008431	17	15134364	17	15231047	8431	23470	rs104894619	NC_000017.11:15231046:G:A	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity	1-Apr-24	"criteria provided, conflicting classifications"						
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1	"G843D, G635D, G786D"	Peroxisome biogenesis disorder 1A (Zellweger)|not specified|Peroxisome biogenesis disorder 1B|Heimler syndrome 1|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|Inborn genetic diseases|Peroxisomal disorder|Heimler syndrome 1|not provided|Zellweger spectrum disorders|Retinal dystrophy|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|PEX1-related disorder|Peroxisome biogenesis disorder	VCV000007516	7	92130876	7	92501562	7516	22555	rs61750420	NC_000007.14:92501561:C:T	single nucleotide variant	missense variant	Pathogenic	31-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR	L206W	ivacaftor response - Efficacy|Cystic fibrosis	VCV000007190	7	117175339	7	117535285	7190	22229	rs121908752	NC_000007.14:117535284:T:G	single nucleotide variant	missense variant	Pathogenic; drug response	24-Mar-21	reviewed by expert panel						
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR	N1303K	Cystic fibrosis	VCV000007136	7	117292931	7	117652877	7136	22175	rs80034486	NC_000007.14:117652876:C:G	single nucleotide variant	missense variant	Pathogenic	3-Mar-04	practice guideline						
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR	R117H	Cystic fibrosis	VCV000007109	7	117171029	7	117530975	7109	22148	rs78655421	NC_000007.14:117530974:G:A	single nucleotide variant	missense variant	Pathogenic	3-Mar-04	practice guideline						
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	GH-LCR|SCN4A	R675Q	"Myopathy|Hyperkalemic periodic paralysis|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|not provided"	VCV000005919	17	62034874	17	63957514	5919	20958	rs121908557	NC_000017.11:63957513:C:T	single nucleotide variant	missense variant	Pathogenic	8-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu)	NEUROG3	R93L	not provided|Congenital malabsorptive diarrhea 4	VCV000005323	10	71332522	10	69572766	5323	20362	rs121917838	NC_000010.11:69572765:C:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	13-Mar-23	"criteria provided, multiple submitters, no conflicts"						
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	NHERF1	R153Q	NHERF1-related disorder|Hypophosphatemic nephrolithiasis/osteoporosis 2|Chronic kidney disease|not provided	VCV000005271	17	72758167	17	74762028	5271	20310	rs41282065	NC_000017.11:74762027:G:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	1-Jan-24	"criteria provided, conflicting classifications"						
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	SGSH|SLC26A11	S66W	"Sanfilippo syndrome|SGSH-related disorder|Mucopolysaccharidosis, MPS-III-A|not provided|Inborn genetic diseases"	VCV000005111	17	78190883	17	80217084	5111	20150	rs104894637	NC_000017.11:80217083:G:C	single nucleotide variant	missense variant|non-coding transcript variant	Pathogenic	9-Feb-24	"criteria provided, multiple submitters, no conflicts"						
NM_001370466.1(NOD2):c.2717+158C>T	NOD2		Inflammatory bowel disease 1|Blau syndrome|not provided|Autoinflammatory syndrome|Yao syndrome	VCV000004697	16	50756774	16	50722863	4697	19736	rs5743289	NC_000016.10:50722862:C:T	single nucleotide variant	intron variant	Conflicting classifications of pathogenicity	21-Nov-20	"criteria provided, conflicting classifications"						
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	NOD2	"R702W, R675W"	not provided|Autoinflammatory syndrome|Inflammatory bowel disease 1|Yao syndrome|not specified|Blau syndrome|Regional enteritis|Blau syndrome	VCV000004693	16	50745926	16	50712015	4693	19732	rs2066844	NC_000016.10:50712014:C:T	single nucleotide variant	missense variant|non-coding transcript variant	Conflicting classifications of pathogenicity; association	31-Jan-24	"criteria provided, conflicting classifications"						
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON	"G315S, G281S"	"not provided|SEPN1-related disorder|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|SELENON-related myopathy|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy|Congenital myopathy 4A, autosomal dominant|Eichsfeld type congenital muscular dystrophy"	VCV000004496	1	26136244	1	25809753	4496	19535	rs121908188	NC_000001.11:25809752:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	5-Feb-24	"criteria provided, multiple submitters, no conflicts"						
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	WNT10A	F228I	"Tooth agenesis, selective, 4|Odonto-onycho-dermal dysplasia|SchC6pf-Schulz-Passarge syndrome|Tooth agenesis, selective, 4|Odonto-onycho-dermal dysplasia|Ectodermal dysplasia|Odonto-onycho-dermal dysplasia|Inborn genetic diseases|Tooth agenesis, selective, 4|not provided|Oligodontia|WNT10A-related disorder|Hypohidrotic ectodermal dysplasia|Tooth agenesis, selective, 4|SchC6pf-Schulz-Passarge syndrome"	VCV000004462	2	219755011	2	218890289	4462	19501	rs121908120	NC_000002.12:218890288:T:A	single nucleotide variant	missense variant	Conflicting classifications of pathogenicity	31-Jan-24	"criteria provided, conflicting classifications"						
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs)	ZMPSTE24	L362fs	not provided|Mandibuloacral dysplasia with type B lipodystrophy|Lethal tight skin contracture syndrome|ZMPSTE24-related disorder|Mandibuloacral dysplasia with type B lipodystrophy|Lethal tight skin contracture syndrome	VCV000004271	1	40756542 - 40756543	1	40290870 - 40290871	4271	19310	rs137854889	NC_000001.11:40290870:TTTTTTTTT:TTTTTTTTTT	Duplication	frameshift variant	Pathogenic	12-Nov-23	"criteria provided, multiple submitters, no conflicts"						
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP	L276I	"FKRP-related disorder|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2I|Cardiovascular phenotype|Myopathy|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Difficulty climbing stairs|Scapular winging|Difficulty standing|Gait imbalance|Headache|Paresthesia|Muscle weakness|Difficulty walking|Muscular dystrophy-dystroglycanopathy type B5|Myopathy caused by variation in FKRP|Limb-girdle muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy"	VCV000004221	19	47259533	19	46756276	4221	19260	rs28937900	NC_000019.10:46756275:C:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	11-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_000250.2(MPO):c.2031-2A>C	MPO		not provided|Alzheimer disease type 1|Myeloperoxidase deficiency|MPO-related disorder|Myeloperoxidase deficiency	VCV000003632	17	56348226	17	58270865	3632	18671	rs35897051	NC_000017.11:58270864:T:G	single nucleotide variant	splice acceptor variant	Pathogenic/Likely pathogenic	26-Mar-24	"criteria provided, multiple submitters, no conflicts"						
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	LOC106694316|MPO	R569W	Myeloperoxidase deficiency|Alzheimer disease type 1|not provided|Myeloperoxidase deficiency|MPO-related disorder	VCV000003626	17	56350196	17	58272835	3626	18665	rs119468010	NC_000017.11:58272834:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	1-May-23	"criteria provided, multiple submitters, no conflicts"						
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	ACADM	"G267R, G271R, G300R, G78R, G231R"	ACADM-related disorder|Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided	VCV000003588	1	76215194	1	75749509	3588	18627	rs121434274	NC_000001.11:75749508:G:A	single nucleotide variant	missense variant	Pathogenic/Likely pathogenic	18-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	GBE1	Y329S	"GBE1-related disorder|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Adult polyglucosan body disease|not provided|Glycogen storage disease, type IV|Adult polyglucosan body disease"	VCV000002777	3	81691938	3	81642787	2777	17816	rs80338671	NC_000003.12:81642786:T:G	single nucleotide variant	missense variant	Pathogenic	30-Jan-24	"criteria provided, multiple submitters, no conflicts"						
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)	ANTXR2	"A282fs, A359fs"	not provided|Hyaline fibromatosis syndrome	VCV000002604	4	80905985 - 80905986	4	79984831 - 79984832	2604	17643	rs312262690	NC_000004.12:79984831:GGGG:GGGGG	Duplication	frameshift variant	Pathogenic	18-Dec-23	"criteria provided, multiple submitters, no conflicts"						
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	F5	R534Q	hormonal contraceptives for systemic use response - Toxicity	VCV000000642	1	169519049	1	169549811	642	15681	rs6025	NC_000001.11:169549810:C:T	single nucleotide variant	missense variant	drug response	24-Mar-21	reviewed by expert panel						
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	PAH	E280K	not provided|Inborn genetic diseases|Phenylketonuria	VCV000000580	12	103246597	12	102852819	580	15619	rs62508698	NC_000012.12:102852818:C:T	single nucleotide variant	missense variant	Pathogenic	16-Jan-24	"criteria provided, multiple submitters, no conflicts"						