"Illumina Laboratory Services, Illumina"[submitter] AND "OCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 888265	NM_000275.3(OCA2):c.*371G>C	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
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 315455	NM_000275.3(OCA2):c.*300T>C	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	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 315456	NM_000275.3(OCA2):c.*166C>T	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 888268	NM_000275.3(OCA2):c.*54A>G	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GUncertain significance
Select item 315457	NM_000275.3(OCA2):c.*50A>G	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GBenign
Select item 315458	NM_000275.3(OCA2):c.*21G>A	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 499953	NM_000275.3(OCA2):c.*1T>C	OCA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
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
Select item 315459	NM_000275.3(OCA2):c.2432+11A>G	OCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885160	NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)	OCA2 (F804L +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 255730	NM_000275.3(OCA2):c.2364G>A (p.Ser788=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 627604	NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	OCA2 (S788L +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 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 195643	NM_000275.3(OCA2):c.2328T>C (p.Ala776=)	OCA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 315460	NM_000275.3(OCA2):c.2322C>T (p.Phe774=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 195645	NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)	OCA2 (A765T +1 more)	Single nucleotide variant (missense variant)	OCA2-related condition +2 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 668323	NM_000275.3(OCA2):c.2245-6C>A	OCA2	Single nucleotide variant (intron 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 436089	NM_000275.3(OCA2):c.2208G>T (p.Ser736=)	OCA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 255729	NM_000275.3(OCA2):c.2208G>A (p.Ser736=)	OCA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 632225	NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)	OCA2 (L734R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
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 255728	NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr)	OCA2 (I722T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GBenign
Select item 315461	NM_000275.3(OCA2):c.2145C>G (p.Val715=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315462	NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)	OCA2 (A694T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255727	NM_000275.3(OCA2):c.2058A>C (p.Ala686=)	OCA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 756051	NM_000275.3(OCA2):c.2043C>G (p.Thr681=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 960	NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	OCA2 (W679C +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 255725	NM_000275.3(OCA2):c.1887G>T (p.Val629=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 888344	NM_000275.3(OCA2):c.1864C>T (p.Leu622=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888345	NM_000275.3(OCA2):c.1857C>T (p.Asp619=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
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 255724	NM_000275.3(OCA2):c.1844A>G (p.His615Arg)	OCA2 (H615R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 315463	NM_000275.3(OCA2):c.1785-7C>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related condition +2 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 885235	NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)	OCA2 (R564W +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 194592	NM_000275.3(OCA2):c.1752C>T (p.His584=)	OCA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 778520	NM_000275.3(OCA2):c.1744C>T (p.Leu582=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632226	NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter)	OCA2 (E567* +1 more)	Single nucleotide variant (nonsense)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 436094	NM_000275.3(OCA2):c.1679G>A (p.Arg560His)	OCA2 (R560H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 885237	NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr)	OCA2 (I544T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	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 315464	NM_000275.3(OCA2):c.1553T>A (p.Leu518His)	OCA2 (L518H +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 255722	NM_000275.3(OCA2):c.1551C>T (p.Cys517=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GBenign
Select item 315465	NM_000275.3(OCA2):c.1504-12_1504-9del	OCA2	Deletion (intron variant)	Oculocutaneous albinism	GUncertain significance
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 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 961	NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	OCA2 (N489D +1 more)	Single nucleotide variant (missense variant)	OCA2-related condition +4 more	GPathogenic/Likely pathogenic
Select item 315466	NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)	OCA2 (G485R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 954	NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	OCA2 (A481T +1 more)	Single nucleotide variant (missense variant)	OCA2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 315467	NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe)	OCA2 (C457F +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 255720	NM_000275.3(OCA2):c.1365-15C>T	OCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 315468	NM_000275.3(OCA2):c.1364+4C>T	OCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631723	NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	OCA2 (R455G +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 315469	NM_000275.3(OCA2):c.1352C>A (p.Pro451His)	OCA2 (P451H +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
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 887142	NM_000275.3(OCA2):c.1336A>G (p.Met446Val)	OCA2 (M422V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 955	NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	OCA2 (V443I +1 more)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic/Likely pathogenic
Select item 315470	NM_000275.3(OCA2):c.1326C>T (p.Asn442=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 255719	NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	OCA2 (L440F +1 more)	Single nucleotide variant (missense variant)	OCA2-related condition +5 more	GConflicting classifications of pathogenicity
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 315471	NM_000275.3(OCA2):c.1303G>A (p.Val435Ile)	OCA2 (V435I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887143	NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)	OCA2 (R397W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 963	NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)	OCA2 (R419Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 194160	NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	OCA2 (R419W +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 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 193984	NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)	OCA2 (M395L +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 193986	NM_000275.3(OCA2):c.1183-4A>G	OCA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 888403	NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)	OCA2 (T387M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 193573	NM_000275.3(OCA2):c.1113C>T (p.Gly371=)	OCA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 419971	NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)	OCA2 (I370T)	Single nucleotide variant (intron variant +1 more)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 255716	NM_000275.3(OCA2):c.1065G>A (p.Ala355=)	OCA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 255714	NM_000275.3(OCA2):c.1026C>T (p.Tyr342=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GConflicting classifications of pathogenicity
Select item 255713	NM_000275.3(OCA2):c.1007C>T (p.Ala336Val)	OCA2 (A336V)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GBenign/Likely benign
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 962	NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)	OCA2 (R305W)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GBenign
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 255731	NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)	OCA2 (R266W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +3 more	GBenign/Likely benign
Select item 886198	NM_000275.3(OCA2):c.751G>A (p.Val251Met)	OCA2 (V251M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198411	NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	OCA2 (R243C)	Single nucleotide variant (missense variant)	OCA2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 284034	NM_000275.3(OCA2):c.722C>G (p.Pro241Arg)	OCA2 (P241R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GBenign
Select item 631724	NM_000275.3(OCA2):c.681del (p.Leu228fs)	OCA2 (L228fs)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 315472	NM_000275.3(OCA2):c.666C>T (p.His222=)	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 315473	NM_000275.3(OCA2):c.648C>T (p.Ser216=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315474	NM_000275.3(OCA2):c.594G>A (p.Pro198=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315475	NM_000275.3(OCA2):c.588A>C (p.Leu196=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 315476	NM_000275.3(OCA2):c.216C>G (p.Leu72=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
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 255721	NM_000275.3(OCA2):c.144G>A (p.Ser48=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 887202	NM_000275.3(OCA2):c.126C>T (p.Ala42=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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