ClinVar for MedGen (Select 82810) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340499	NM_000275.3(OCA2):c.2244+1G>C	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 3256646	NM_000275.3(OCA2):c.574-53C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 3251960	NM_000275.3(OCA2):c.1066G>C (p.Ala356Pro)	OCA2 (A356P)	Single nucleotide variant (missense variant +1 more)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 2687872	NM_000275.3(OCA2):c.1240-1G>T	OCA2	Single nucleotide variant (splice acceptor variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 2677411	NM_000275.3(OCA2):c.2055dup (p.Ala686fs)	OCA2 (A662fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 2677407	NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)	OCA2 (S59fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2671720	NM_000275.3(OCA2):c.1183A>G (p.Met395Val)	OCA2 (M371V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 2663763	NM_000275.3(OCA2):c.1951+1215G>T	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 2663762	NM_000275.3(OCA2):c.759del (p.Glu253fs)	OCA2 (E253fs)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 2574699	NM_000275.3(OCA2):c.808-1_817del	OCA2	Deletion (splice acceptor variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2573998	NM_000275.3(OCA2):c.808_817del (p.Val270fs)	OCA2 (V270fs)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430239	NM_000275.3(OCA2):c.1116+6T>C	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430238	NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)	OCA2 (A355E)	Single nucleotide variant (missense variant +1 more)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430237	NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)	OCA2 (H673Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430236	NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)	OCA2 (S470F +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430235	NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)	OCA2 (F569S +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430234	NM_000275.3(OCA2):c.516-3C>A	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 2430233	NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)	OCA2 (K601R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430232	NM_000275.3(OCA2):c.1045-10T>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2152220	NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])	OCA2	Microsatellite (inframe_deletion +1 more)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 2137622	NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)	OCA2 (R787S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1805918	NM_000275.3(OCA2):c.1248dup (p.Leu417fs)	OCA2 (L393fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 1709742	NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)	OCA2 (Y778fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 1705737	NM_000275.3(OCA2):c.1952-7T>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 1705700	NM_000275.3(OCA2):c.808-3C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GPathogenic
Select item 1705444	NM_000275.3(OCA2):c.163dup (p.Ala55fs)	OCA2 (A55fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 1705308	NM_000275.3(OCA2):c.515+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GLikely pathogenic
Select item 1704408	NM_000275.3(OCA2):c.374_375del (p.Glu125fs)	OCA2 (E125fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1700026	NM_000275.3(OCA2):c.2225dup (p.Phe744fs)	OCA2 (F720fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 1700025	NM_000275.3(OCA2):c.1365-1G>A	OCA2	Single nucleotide variant (splice acceptor variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic
Select item 1700024	NM_000275.3(OCA2):c.646+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 1583398	NM_000275.3(OCA2):c.914G>A (p.Arg305Gln)	OCA2 (R305Q)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 1526109	NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs)	OCA2 (A546fs +1 more)	Insertion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1483719	NM_000275.3(OCA2):c.943C>T (p.Pro315Ser)	OCA2 (P315S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1458235	NM_000275.3(OCA2):c.1842+2T>C	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic
Select item 1451123	NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)	OCA2 (G359D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1417098	NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)	OCA2	Deletion (nonsense)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic
Select item 1411558	NM_000275.3(OCA2):c.2244+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic
Select item 1407900	NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys)	OCA2 (R531C +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GUncertain significance
Select item 1404212	NM_000275.3(OCA2):c.224G>A (p.Gly75Glu)	OCA2 (G75E)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GUncertain significance
Select item 1388008	NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)	OCA2 (G393V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1386147	NM_000275.3(OCA2):c.41C>T (p.Ala14Val)	OCA2 (A14V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1345031	NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro)	OCA2 (T458P +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 1333677	NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys)	OCA2 (E526K +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1332871	NM_000275.3(OCA2):c.1951+1G>C	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 1328518	NM_000275.3(OCA2):c.1860G>C (p.Gly620=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1305134	NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)	OCA2 (F292L)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 1263011	NM_000275.3(OCA2):c.2244+25C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GBenign
Select item 1252195	NM_000275.3(OCA2):c.1785-47A>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GBenign
Select item 1216648	NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	OCA2 (R290G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1211398	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	OCA2 (T426M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1176625	NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)	OCA2 (L637F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1098720	Single allele	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 1098719	Single allele	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 1070405	NM_000275.3(OCA2):c.157del (p.Arg53fs)	OCA2 (R53fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1057881	NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	OCA2 (L503R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 1053052	NM_002386.4(MC1R):c.313G>A (p.Ala105Thr)	MC1R (A105T)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GUncertain significance
Select item 1030712	NM_000275.3(OCA2):c.515G>A (p.Arg172Lys)	OCA2 (R172K)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 1010119	NM_002386.4(MC1R):c.803C>G (p.Pro268Arg)	MC1R (P268R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GUncertain significance
Select item 1006003	NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)	OCA2 (S283R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GUncertain significance
Select item 983522	NM_000275.3(OCA2):c.1657_1675del (p.Val553fs)	OCA2 (V529fs +1 more)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 973316	NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser)	OCA2 (L416S +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 969262	NM_002386.4(MC1R):c.577G>A (p.Val193Met)	MC1R (V193M)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GUncertain significance
Select item 916725	NM_000275.3(OCA2):c.890+1G>A	OCA2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 888403	NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)	OCA2 (T387M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888402	NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn)	OCA2 (D384N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888347	NM_000275.3(OCA2):c.1842+6C>T	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 888346	NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu)	OCA2 (I593L +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 888345	NM_000275.3(OCA2):c.1857C>T (p.Asp619=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888344	NM_000275.3(OCA2):c.1864C>T (p.Leu622=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 888268	NM_000275.3(OCA2):c.*54A>G	OCA2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 888267	NM_000275.3(OCA2):c.*271G>A	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GLikely benign
Select item 888266	NM_000275.3(OCA2):c.*367C>G	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 888265	NM_000275.3(OCA2):c.*371G>C	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 888264	NM_000275.3(OCA2):c.*410C>A	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 887203	NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)	OCA2 (R36C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887202	NM_000275.3(OCA2):c.126C>T (p.Ala42=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 887201	NM_000275.3(OCA2):c.162G>A (p.Gly54=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887143	NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)	OCA2 (R397W +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GUncertain significance
Select item 887142	NM_000275.3(OCA2):c.1336A>G (p.Met446Val)	OCA2 (M422V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 887141	NM_000275.3(OCA2):c.1337T>C (p.Met446Thr)	OCA2 (M446T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 887068	NM_000275.3(OCA2):c.2169C>T (p.Ala723=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887067	NM_000275.3(OCA2):c.2229G>A (p.Pro743=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886199	NM_000275.3(OCA2):c.654C>A (p.Asn218Lys)	OCA2 (N218K)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 886198	NM_000275.3(OCA2):c.751G>A (p.Val251Met)	OCA2 (V251M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886131	NM_000275.3(OCA2):c.1479T>G (p.Val493=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 886130	NM_000275.3(OCA2):c.1503+7A>T	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 886068	NM_000275.3(OCA2):c.2287C>A (p.Leu763Met)	OCA2 (L739M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GUncertain significance
Select item 886067	NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr)	OCA2 (P742T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 886066	NM_000275.3(OCA2):c.2361G>A (p.Ala787=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 885294	NM_000275.3(OCA2):c.885G>A (p.Leu295=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 885293	NM_000275.3(OCA2):c.972C>T (p.Arg324=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 885292	NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr)	OCA2 (A343T)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 885238	NM_000275.3(OCA2):c.1560C>A (p.Leu520=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885237	NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr)	OCA2 (I544T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885236	NM_000275.3(OCA2):c.1656C>T (p.His552=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885235	NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)	OCA2 (R564W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885234	NM_000275.3(OCA2):c.1784+6G>A	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 885160	NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)	OCA2 (F804L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885159	NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp)	OCA2 (G789D +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance

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