"Genome-Nilou Lab"[submitter] AND "OCA2"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499953	NM_000275.3(OCA2):c.*1T>C	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GUncertain significance
Select item 315459	NM_000275.3(OCA2):c.2432+11A>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 195725	NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	OCA2 (F809I +1 more)	Single nucleotide variant (missense variant)	not provided +2 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)	Oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 617810	NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	OCA2 (A787V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 436090	NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	OCA2 (G780D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 195643	NM_000275.3(OCA2):c.2328T>C (p.Ala776=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GBenign
Select item 195645	NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)	OCA2 (A765T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1263011	NM_000275.3(OCA2):c.2244+25C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GBenign
Select item 956	NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	OCA2 (P743L +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
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 195557	NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	OCA2 (S736L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 498226	NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)	OCA2 (V702fs +1 more)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 756051	NM_000275.3(OCA2):c.2043C>G (p.Thr681=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 194918	NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	OCA2 (L674V +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
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 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 315463	NM_000275.3(OCA2):c.1785-7C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
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 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 778520	NM_000275.3(OCA2):c.1744C>T (p.Leu582=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
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 255722	NM_000275.3(OCA2):c.1551C>T (p.Cys517=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 211768	NM_000275.3(OCA2):c.1503+5G>A	OCA2	Single nucleotide variant (intron variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 954	NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	OCA2 (A481T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255720	NM_000275.3(OCA2):c.1365-15C>T	OCA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 631723	NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	OCA2 (R455G +1 more)	Single nucleotide variant (missense variant)	not specified +3 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)	Tyrosinase-positive oculocutaneous albinism +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 502704	NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	OCA2 (D441G +1 more)	Single nucleotide variant (missense variant)	not specified +3 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 194160	NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	OCA2 (R419W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193985	NM_000275.3(OCA2):c.1239+5G>C	OCA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 211766	NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	OCA2 (T404M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 193984	NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)	OCA2 (M395L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193986	NM_000275.3(OCA2):c.1183-4A>G	OCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 436099	NM_000275.3(OCA2):c.1182+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic
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 211765	NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)	OCA2 (F385I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255718	NM_000275.3(OCA2):c.1117-17T>C	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 419971	NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)	OCA2 (I370T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 193574	NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	OCA2 (A368V)	Single nucleotide variant (missense variant +1 more)	Tyrosinase-positive oculocutaneous albinism +4 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 specified +2 more	GBenign
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 522150	NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr)	OCA2 (A334T)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 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 198707	NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	OCA2	Indel (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 198411	NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	OCA2 (R243C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 372713	NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	OCA2	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198064	NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)	OCA2 (P211L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198063	NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	OCA2 (P198L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504924	NM_000275.3(OCA2):c.574-19A>G	OCA2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1070405	NM_000275.3(OCA2):c.157del (p.Arg53fs)	OCA2 (R53fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 431946	NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)	OCA2 (G27R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 195055	NM_000275.3(OCA2):c.45G>A (p.Pro15=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity

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Items: 63