"Genetic Services Laboratory, University of Chicago"[submitter] AND "O - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195725	NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	OCA2 (F809I +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +3 more	GConflicting classifications of pathogenicity
Select item 211770	NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)	OCA2 (G782R +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Tyrosinase-positive oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 845735	NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)	OCA2 (G751D +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 436091	NM_000275.3(OCA2):c.2245-6C>G	OCA2	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
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)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +4 more	GConflicting classifications of pathogenicity
Select item 436092	NM_000275.3(OCA2):c.2080-1G>A	OCA2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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	GConflicting classifications of pathogenicity
Select item 194918	NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	OCA2 (L674V +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +9 more	GConflicting classifications of pathogenicity
Select item 211769	NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)	OCA2 (E671V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 436093	NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg)	OCA2 (G631R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1312430	NM_000275.3(OCA2):c.1843-9_1843-6del	OCA2	Microsatellite (intron variant)	not provided +1 more	GUncertain significance
Select item 1324826	NM_000275.3(OCA2):c.1808del (p.Asn603fs)	OCA2 (N579fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 211768	NM_000275.3(OCA2):c.1503+5G>A	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 961	NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	OCA2 (N489D +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +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 211767	NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)	OCA2 (N476S +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 955	NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	OCA2 (V443I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 255719	NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	OCA2 (L440F +1 more)	Single nucleotide variant (missense variant)	not specified +5 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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1338517	NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu)	OCA2 (F377L +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 436099	NM_000275.3(OCA2):c.1182+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GPathogenic
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 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 193574	NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	OCA2 (A368V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 193572	NM_000275.3(OCA2):c.1045-9T>G	OCA2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1168050	NM_000275.3(OCA2):c.954G>A (p.Met318Ile)	OCA2 (M318I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 198707	NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	OCA2	Indel (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436100	NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)	OCA2 (W274Q)	Inversion (missense variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 436095	NM_000275.3(OCA2):c.807+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 372713	NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	OCA2	Deletion (inframe_deletion)	OCA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1337498	NM_000275.3(OCA2):c.573+5G>A	OCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436096	NM_000275.3(OCA2):c.535A>G (p.Lys179Glu)	OCA2 (K179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436098	NM_000275.3(OCA2):c.171del (p.Gln58fs)	OCA2 (Q58fs)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 436097	NM_000275.3(OCA2):c.121_128del (p.Gly41fs)	OCA2 (G41fs)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 1338408	NM_000275.3(OCA2):c.122del (p.Gly41fs)	OCA2 (G41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 431946	NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)	OCA2 (G27R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 211772	NM_000275.2(OCA2):c.647-?_890+?del	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 211771	NM_000275.2(OCA2):c.647-?_807+?del	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic

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Items: 45