ClinVar (all) for Orgtrack (Select 507863) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253726	NM_005267.5(GJA8):c.226C>G (p.Arg76Gly)	GJA8 (R76G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253725	NM_005267.5(GJA8):c.218C>T (p.Ser73Phe)	GJA8 (S73F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253724	NM_005267.5(GJA8):c.217T>C (p.Ser73Pro)	GJA8 (S73P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253723	NM_005267.5(GJA8):c.208T>C (p.Phe70Leu)	GJA8 (F70L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253722	NM_005267.5(GJA8):c.205G>A (p.Ala69Thr)	GJA8 (A69T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253721	NM_005267.5(GJA8):c.191T>G (p.Val64Gly)	GJA8 (V64G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253720	NM_005267.5(GJA8):c.178G>C (p.Gly60Arg)	GJA8 (G60R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
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 3253718	NM_005267.5(GJA8):c.175C>A (p.Pro59Thr)	GJA8 (P59T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253717	NM_005267.5(GJA8):c.175C>G (p.Pro59Ala)	GJA8 (P59A)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253716	NM_005267.5(GJA8):c.166A>C (p.Thr56Pro)	GJA8 (T56P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253715	NM_005267.5(GJA8):c.154T>C (p.Phe52Leu)	GJA8 (F52L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253714	NM_005267.5(GJA8):c.137G>T (p.Gly46Val)	GJA8 (G46V)	Single nucleotide variant (missense variant)	Cataract 1 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 3253712	NM_005267.5(GJA8):c.131T>C (p.Val44Ala)	GJA8 (V44A)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253711	NM_005267.5(GJA8):c.124G>A (p.Glu42Lys)	GJA8 (E42K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253710	NM_005267.5(GJA8):c.116C>G (p.Thr39Arg)	GJA8 (T39R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253709	NM_005267.5(GJA8):c.94T>A (p.Phe32Ile)	GJA8 (F32I)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253708	NM_005267.5(GJA8):c.92T>C (p.Ile31Thr)	GJA8 (I31T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253707	NM_005267.5(GJA8):c.64G>C (p.Gly22Arg)	GJA8 (G22R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253706	NM_005267.5(GJA8):c.53C>T (p.Ser18Phe)	GJA8 (S18F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253705	NM_005267.5(GJA8):c.23_34del (p.Gly8_Leu11del)	GJA8	Deletion (inframe deletion)	Cataract 1 multiple types	GUncertain significance
Select item 3253704	NM_005267.5(GJA8):c.12G>C (p.Trp4Cys)	GJA8 (W4C)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253703	NM_005267.5(GJA8):c.10T>A (p.Trp4Arg)	GJA8 (W4R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
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 3253678	NM_005267.5(GJA8):c.1125del (p.Gly376fs)	GJA8 (G376fs)	Deletion (frameshift variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253677	NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln)	GJA8 (E340Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253676	NM_005267.5(GJA8):c.997G>C (p.Gly333Arg)	GJA8 (G333R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253675	NM_005267.5(GJA8):c.875T>A (p.Leu292Gln)	GJA8 (L292Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253674	NM_005267.5(GJA8):c.855del (p.Met286fs)	GJA8 (M286fs)	Deletion (frameshift variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253673	NM_005267.5(GJA8):c.839C>G (p.Pro280Arg)	GJA8 (P280R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253672	NM_005267.5(GJA8):c.776C>A (p.Ser259Tyr)	GJA8 (S259Y)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253671	NM_005267.5(GJA8):c.773C>T (p.Ser258Phe)	GJA8 (S258F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253670	NM_005267.5(GJA8):c.766dup (p.Ala256fs)	GJA8 (A256fs)	Duplication (frameshift variant)	Cataract 1 multiple types	GLikely pathogenic
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 3253668	NM_005267.5(GJA8):c.607dup (p.Thr203fs)	GJA8 (T203fs)	Duplication (frameshift variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253667	NM_005267.5(GJA8):c.590C>T (p.Ser197Phe)	GJA8 (S197F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253666	NM_005267.5(GJA8):c.586G>A (p.Val196Met)	GJA8 (V196M)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
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 3253664	NM_005267.5(GJA8):c.565C>G (p.Pro189Ala)	GJA8 (P189A)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253663	NM_005267.5(GJA8):c.433G>T (p.Gly145Trp)	GJA8 (G145W)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253662	NM_005267.5(GJA8):c.430_444del (p.Glu144_Leu148del)	GJA8	Deletion (inframe deletion)	Cataract 1 multiple types	GLikely pathogenic
Select item 3253661	NM_005267.5(GJA8):c.367G>A (p.Gly123Ser)	GJA8 (G123S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253660	NM_005267.5(GJA8):c.302G>T (p.Arg101Leu)	GJA8 (R101L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253659	NM_005267.5(GJA8):c.293A>C (p.His98Pro)	GJA8 (H98P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253658	NM_005267.5(GJA8):c.280G>A (p.Gly94Arg)	GJA8 (G94R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253657	NM_005267.5(GJA8):c.262C>A (p.Pro88Thr)	GJA8 (P88T)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3253656	NM_005267.5(GJA8):c.235G>C (p.Val79Leu)	GJA8 (V79L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
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 3236398	NM_005267.5(GJA8):c.293A>G (p.His98Arg)	GJA8 (H98R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 3064206	NM_005267.5(GJA8):c.460C>G (p.His154Asp)	GJA8 (H154D)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 3064099	NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)	GJA8 (R425*)	Single nucleotide variant (nonsense)	Cataract 1 multiple types	GUncertain significance
Select item 2915341	NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)	GJA8 (W45R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
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 2733979	NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)	GJA8 (L7P)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 2690901	NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)	GJA8 (E201K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 2630392	NM_005267.5(GJA8):c.290T>G (p.Val97Gly)	GJA8 (V97G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 2581012	NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)	GJA8 (R198W)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 2574784	NM_005267.5(GJA8):c.178G>A (p.Gly60Ser)	GJA8 (G60S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 1704073	NM_005267.5(GJA8):c.130G>A (p.Val44Met)	GJA8 (V44M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1684591	NM_005267.5(GJA8):c.263C>A (p.Pro88Gln)	GJA8 (P88Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GLikely pathogenic
Select item 1684590	NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)	GJA8 (P88L)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with cataract 1 +1 more	GPathogenic/Likely pathogenic
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 1454428	NM_005267.5(GJA8):c.226C>T (p.Arg76Cys)	GJA8 (R76C)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with cataract 1 +1 more	GConflicting classifications of pathogenicity
Select item 1403025	NM_005267.5(GJA8):c.200A>G (p.Asp67Gly)	GJA8 (D67G)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
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 1328353	NM_005267.5(GJA8):c.227G>A (p.Arg76His)	GJA8 (R76H)	Single nucleotide variant (missense variant)	Cataract 1 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 1065601	NM_002340.6(LSS):c.232C>G (p.Leu78Val)	LSS (L78V)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065600	NM_018060.4(IARS2):c.1166G>C (p.Gly389Ala)	IARS2 (G389A)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065599	NM_004793.4(LONP1):c.2245C>T (p.Pro749Ser)	LONP1 (P553S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065598	NM_006005.3(WFS1):c.1109C>T (p.Ala370Val)	WFS1 (A370V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065597	NM_000786.4(CYP51A1):c.280G>A (p.Ala94Thr)	CYP51A1 (A94T)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065596	NM_012064.4(MIP):c.338G>A (p.Arg113Gln)	MIP (R113Q)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance

<< First< Prev

Page of 2