ClinVar for Gene (Select 2700) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281440	NM_021954.4(GJA3):c.635G>A (p.Cys212Tyr)	GJA3 (C212Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281439	NM_021954.4(GJA3):c.742G>T (p.Gly248Trp)	GJA3 (G248W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281438	NM_021954.4(GJA3):c.406C>T (p.Arg136Cys)	GJA3 (R136C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281437	NM_021954.4(GJA3):c.715G>A (p.Gly239Ser)	GJA3 (G239S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3281436	NM_021954.4(GJA3):c.1304T>C (p.Ile435Thr)	GJA3 (I435T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253719	NM_021954.4(GJA3):c.82G>T (p.Val28Leu)	GJA3 (V28L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253713	NM_021954.4(GJA3):c.64G>A (p.Gly22Ser)	GJA3 (G22S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253702	NM_021954.4(GJA3):c.1197dup (p.Thr400fs)	GJA3 (T400fs)	Duplication (frameshift variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253701	NM_021954.4(GJA3):c.1189dup (p.Ala397fs)	GJA3 (A397fs)	Duplication (frameshift variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253700	NM_021954.4(GJA3):c.1152dup (p.Ser385fs)	GJA3 (S385fs)	Duplication (frameshift variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253699	NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs)	GJA3 (S381fs)	Deletion (frameshift variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253698	NM_021954.4(GJA3):c.950dup (p.His318fs)	GJA3 (H318fs)	Duplication (frameshift variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253697	NM_021954.4(GJA3):c.32T>C (p.Leu11Ser)	GJA3 (L11S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253696	NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)	GJA3	Duplication (inframe insertion)	Cataract 14 multiple types	GUncertain significance
Select item 3253695	NM_021954.4(GJA3):c.771dup (p.Ser258fs)	GJA3 (S258fs)	Duplication (frameshift variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253694	NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)	GJA3 (E199A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253693	NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)	GJA3 (P197S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253692	NM_021954.4(GJA3):c.584C>T (p.Ser195Phe)	GJA3 (S195F)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253691	NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)	GJA3 (F193S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253690	NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)	GJA3 (G143E)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253689	NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)	GJA3 (L97R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253688	NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)	GJA3 (L90F)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253687	NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)	GJA3 (R76G)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253686	NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)	GJA3 (D67G)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253685	NM_021954.4(GJA3):c.199G>C (p.Asp67His)	GJA3 (D67H)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253684	NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)	GJA3 (N55D)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253683	NM_021954.4(GJA3):c.143A>G (p.Glu48Gly)	GJA3 (E48G)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253682	NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)	GJA3 (E48K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253681	NM_021954.4(GJA3):c.139G>A (p.Asp47Asn)	GJA3 (D47N)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253680	NM_021954.4(GJA3):c.134G>C (p.Trp45Ser)	GJA3 (W45S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253679	NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)	GJA3 (E42A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253669	NM_021954.4(GJA3):c.96C>A (p.Phe32Leu)	GJA3 (F32L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 3253665	NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)	GJA3 (I31N)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 3253655	NM_021954.4(GJA3):c.1A>G (p.Met1Val)	GJA3 (M1V)	Single nucleotide variant (missense variant +1 more)	Cataract 14 multiple types	GLikely pathogenic
Select item 3244228	NC_000013.10:g.(?_20716120)_(21219117_?)dup	CRYL1, GJA3 +3 more	Duplication	not provided	GUncertain significance
Select item 3244212	NC_000013.10:g.(?_20472281)_(24052335_?)del	CRYL1, EEF1AKMT1 +16 more	Deletion	not provided	GPathogenic
Select item 3148926	GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	GJA3, GJB2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3099948	NM_021954.4(GJA3):c.68A>G (p.Lys23Arg)	GJA3 (K23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099947	NM_021954.4(GJA3):c.463T>G (p.Phe155Val)	GJA3 (F155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099946	NM_021954.4(GJA3):c.253G>A (p.Val85Met)	GJA3 (V85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099945	NM_021954.4(GJA3):c.1079C>A (p.Pro360Gln)	GJA3 (P360Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3099944	NM_021954.4(GJA3):c.1063G>T (p.Val355Phe)	GJA3 (V355F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064923	NM_021954.4(GJA3):c.175C>G (p.Pro59Ala)	GJA3 (P59A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GPathogenic
Select item 3055103	NM_021954.4(GJA3):c.323_326del (p.Glu108fs)	GJA3 (E108fs)	Microsatellite (frameshift variant)	GJA3-related disorder	GUncertain significance
Select item 3045475	NM_021954.4(GJA3):c.*5C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	GJA3-related disorder	GLikely benign
Select item 3043648	NM_021954.4(GJA3):c.376C>G (p.Pro126Ala)	GJA3 (P126A)	Single nucleotide variant (missense variant)	GJA3-related disorder	GUncertain significance
Select item 3030788	NM_021954.4(GJA3):c.297C>G (p.Ile99Met)	GJA3 (I99M)	Single nucleotide variant (missense variant)	GJA3-related disorder	GUncertain significance
Select item 2960414	NM_021954.4(GJA3):c.519C>T (p.Phe173=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GLikely benign
Select item 2959814	NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)	GJA3 (C181*)	Single nucleotide variant (nonsense)	Cataract 14 multiple types	GUncertain significance
Select item 2913587	NM_021954.4(GJA3):c.1107C>T (p.Gly369=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GLikely benign
Select item 2885045	NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)	GJA3 (P256A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2806450	NM_021954.4(GJA3):c.30_31del (p.Leu11fs)	GJA3 (L11fs)	Microsatellite (frameshift variant)	Cataract 14 multiple types	GUncertain significance
Select item 2770721	NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)	GJA3 (Y149*)	Single nucleotide variant (nonsense)	Cataract 14 multiple types	GUncertain significance
Select item 2745915	NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)	GJA3 (F206L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2735992	NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)	GJA3 (D3Y)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GPathogenic/Likely pathogenic
Select item 2724427	NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)	GJA3 (S236N)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2719032	NM_021954.4(GJA3):c.868del (p.Ala290fs)	GJA3 (A290fs)	Deletion (frameshift variant)	Cataract 14 multiple types	GUncertain significance
Select item 2698169	NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)	GJA3 (N63K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2684692	GRCh37/hg19 13q12.11(chr13:20733790-20882001)x3	GJA3, GJB2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2663261	NM_021954.4(GJA3):c.20T>C (p.Leu7Pro)	GJA3 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643667	NM_021954.4(GJA3):c.864C>G (p.Pro288=)	GJA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616171	NM_021954.4(GJA3):c.721G>A (p.Asp241Asn)	GJA3 (D241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611628	NM_021954.4(GJA3):c.848G>A (p.Arg283His)	GJA3 (R283H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610252	NM_021954.4(GJA3):c.1192G>A (p.Val398Met)	GJA3 (V398M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577864	NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)	GJA3 (F70L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2570856	NM_021954.4(GJA3):c.176C>A (p.Pro59Gln)	GJA3 (P59Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2518074	NM_021954.4(GJA3):c.715G>C (p.Gly239Arg)	GJA3 (G239R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485588	NM_021954.4(GJA3):c.919G>A (p.Gly307Arg)	GJA3 (G307R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485303	NM_021954.4(GJA3):c.1207C>G (p.Gln403Glu)	GJA3 (Q403E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2482557	NM_021954.4(GJA3):c.1061C>T (p.Pro354Leu)	GJA3 (P354L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474113	NM_021954.4(GJA3):c.1202C>T (p.Ala401Val)	GJA3 (A401V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314083	NM_021954.4(GJA3):c.1303A>G (p.Ile435Val)	GJA3 (I435V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275888	NM_021954.4(GJA3):c.539G>A (p.Arg180His)	GJA3 (R180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269643	NM_021954.4(GJA3):c.565A>C (p.Thr189Pro)	GJA3 (T189P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260996	NM_021954.4(GJA3):c.245T>A (p.Ile82Asn)	GJA3 (I82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240711	NM_021954.4(GJA3):c.487T>A (p.Phe163Ile)	GJA3 (F163I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142908	NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)	GJA3 (A350T)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2065602	NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)	GJA3 (L302R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +2 more	GUncertain significance
Select item 2055275	NM_021954.4(GJA3):c.196T>C (p.Tyr66His)	GJA3 (Y66H)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 2047697	NM_021954.4(GJA3):c.673C>G (p.Leu225Val)	GJA3 (L225V)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 2037016	NM_021954.4(GJA3):c.1203G>A (p.Ala401=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GLikely benign
Select item 2028307	NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)	GJA3 (F203L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GPathogenic
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1721678	NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)	GJA3 (G46C)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707190	NM_021954.4(GJA3):c.-17-245_-17-235del	GJA3	Deletion (intron variant)	not provided	GLikely benign
Select item 1706969	NM_021954.4(GJA3):c.-17-234_-17-233insAGGAA	GJA3	Insertion (intron variant)	not provided	GLikely benign
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1679560	NM_021954.4(GJA3):c.559C>T (p.Pro187Ser)	GJA3 (P187S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GConflicting classifications of pathogenicity
Select item 1527965	NM_021954.4(GJA3):c.98G>T (p.Arg33Leu)	GJA3 (R33L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1487555	NM_021954.4(GJA3):c.392C>T (p.Ser131Leu)	GJA3 (S131L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 1481592	NM_021954.4(GJA3):c.226C>T (p.Arg76Cys)	GJA3 (R76C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1474368	NM_021954.4(GJA3):c.151G>C (p.Asp51His)	GJA3 (D51H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1413415	NM_021954.4(GJA3):c.655A>G (p.Met219Val)	GJA3 (M219V)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GUncertain significance
Select item 1375087	NM_021954.4(GJA3):c.595G>A (p.Glu199Lys)	GJA3 (E199K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 1345145	NM_021954.4(GJA3):c.178G>A (p.Gly60Ser)	GJA3 (G60S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic

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