ClinVar for MedGen (Select 356152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3064923	NM_021954.4(GJA3):c.175C>G (p.Pro59Ala)	GJA3 (P59A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GPathogenic
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 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 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 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 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 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)	Cataract 14 multiple types +1 more	GLikely pathogenic
Select item 1474368	NM_021954.4(GJA3):c.151G>C (p.Asp51His)	GJA3 (D51H)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GLikely pathogenic
Select item 1413415	NM_021954.4(GJA3):c.655A>G (p.Met219Val)	GJA3 (M219V)	Single nucleotide variant (missense variant)	not provided +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
Select item 1202607	NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)	GJA3 (N188S)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 1184603	NM_021954.4(GJA3):c.148T>C (p.Ser50Pro)	GJA3 (S50P)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 1184602	NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)	GJA3 (E62K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1166148	NM_021954.4(GJA3):c.1086C>A (p.Leu362=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types +1 more	GBenign
Select item 1065591	NM_021954.4(GJA3):c.43C>A (p.Gln15Lys)	GJA3 (Q15K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 1061661	NM_021954.4(GJA3):c.44A>G (p.Gln15Arg)	GJA3 (Q15R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 975992	NM_021954.4(GJA3):c.210C>A (p.Phe70Leu)	GJA3 (F70L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 938525	NM_021954.4(GJA3):c.779G>A (p.Arg260Gln)	GJA3 (R260Q)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 884136	NM_021954.4(GJA3):c.522G>A (p.Glu174=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GLikely benign
Select item 884076	NM_021954.4(GJA3):c.*532A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884010	NM_021954.4(GJA3):c.*2086G>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884009	NM_021954.4(GJA3):c.*2093A>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884008	NM_021954.4(GJA3):c.*2107T>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884007	NM_021954.4(GJA3):c.*2340A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884006	NM_021954.4(GJA3):c.*2363A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 883267	NM_021954.4(GJA3):c.*740G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 883216	NM_021954.4(GJA3):c.*2695C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882427	NM_021954.4(GJA3):c.902C>T (p.Ala301Val)	GJA3 (A301V)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 882426	NM_021954.4(GJA3):c.1065C>G (p.Val355=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GUncertain significance
Select item 882233	NM_021954.4(GJA3):c.-98G>A	GJA3	Single nucleotide variant (5 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882182	NM_021954.4(GJA3):c.1089G>A (p.Ala363=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GUncertain significance
Select item 882181	NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp)	GJA3 (G379D)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 882180	NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn)	GJA3 (T390N)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 882179	NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala)	GJA3 (P414A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 882122	NM_021954.4(GJA3):c.*1365G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882121	NM_021954.4(GJA3):c.*1495G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882120	NM_021954.4(GJA3):c.*1535C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882068	NM_021954.4(GJA3):c.*2931A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882067	NM_021954.4(GJA3):c.*3210A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880849	NM_021954.4(GJA3):c.78G>A (p.Leu26=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GUncertain significance
Select item 880848	NM_021954.4(GJA3):c.261G>A (p.Thr87=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types	GBenign
Select item 880847	NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)	GJA3 (E112Q)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GConflicting classifications of pathogenicity
Select item 880846	NM_021954.4(GJA3):c.383A>T (p.Asp128Val)	GJA3 (D128V)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 880845	NM_021954.4(GJA3):c.395C>T (p.Ser132Leu)	GJA3 (S132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 880790	NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg)	GJA3 (K419R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 880789	NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg)	GJA3 (G426R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 880788	NM_021954.4(GJA3):c.*201G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880787	NM_021954.4(GJA3):c.*223T>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 880724	NM_021954.4(GJA3):c.*1760G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880723	NM_021954.4(GJA3):c.*1931G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880722	NM_021954.4(GJA3):c.*1941C>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880721	NM_021954.4(GJA3):c.*1957G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 880720	NM_021954.4(GJA3):c.*1965C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance

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