OCA2[gene] and "single gene"[properties] - 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)	not provided +2 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)	Tyrosinase-positive oculocutaneous albinism +1 more	GUncertain significance
Select item 1663840	NM_000275.3(OCA2):c.2514T>C (p.Asn838=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437021	NM_000275.3(OCA2):c.2498TGG[2] (p.Val835del)	OCA2 (V811del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1416941	NM_000275.3(OCA2):c.2506G>A (p.Gly836Arg)	OCA2 (G812R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137621	NM_000275.3(OCA2):c.2503del (p.Val835fs)	OCA2 (V811fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2832426	NM_000275.3(OCA2):c.2502G>A (p.Val834=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545246	NM_000275.3(OCA2):c.2502G>T (p.Val834=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477436	NM_000275.3(OCA2):c.2501T>A (p.Val834Glu)	OCA2 (V810E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787422	NM_000275.3(OCA2):c.2500G>A (p.Val834Met)	OCA2 (V810M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1622620	NM_000275.3(OCA2):c.2497G>A (p.Val833Met)	OCA2 (V809M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1463223	NM_000275.3(OCA2):c.2494C>T (p.His832Tyr)	OCA2 (H808Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736158	NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)	OCA2 (A831P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2152218	NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter)	OCA2 (Y827* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2772698	NM_000275.3(OCA2):c.2477_2478del (p.Cys826fs)	OCA2 (C826fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2117118	NM_000275.3(OCA2):c.2475G>A (p.Met825Ile)	OCA2 (M801I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305143	NM_000275.3(OCA2):c.2473A>T (p.Met825Leu)	OCA2 (M801L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2709689	NM_000275.3(OCA2):c.2464A>C (p.Thr822Pro)	OCA2 (T798P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721787	NM_000275.3(OCA2):c.2459C>A (p.Ser820Tyr)	OCA2 (S796Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784488	NM_000275.3(OCA2):c.2451G>A (p.Met817Ile)	OCA2 (M793I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419199	NM_000275.3(OCA2):c.2446A>G (p.Met816Val)	OCA2 (M792V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2766798	NM_000275.3(OCA2):c.2445A>C (p.Pro815=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700812	NM_000275.3(OCA2):c.2442C>T (p.Phe814=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1912934	NM_000275.3(OCA2):c.2437G>A (p.Gly813Ser)	OCA2 (G789S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3032087	NM_000275.3(OCA2):c.2433-5T>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder	GLikely benign
Select item 1904608	NM_000275.3(OCA2):c.2433-11_2433-10del	OCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 2027777	NM_000275.3(OCA2):c.2433-14T>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1156465	NM_000275.3(OCA2):c.2433-19A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257060	NM_000275.3(OCA2):c.2432+183G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272444	NM_000275.3(OCA2):c.2432+178C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2024541	NM_000275.3(OCA2):c.2432+19del	OCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1101977	NM_000275.3(OCA2):c.2432+17T>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835138	NM_000275.3(OCA2):c.2432+15C>A	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3003910	NM_000275.3(OCA2):c.2432+8T>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728578	NM_000275.3(OCA2):c.2432+8del	OCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 2691714	NM_000275.3(OCA2):c.2432+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism	GLikely pathogenic
Select item 1511266	NM_000275.3(OCA2):c.2431A>G (p.Arg811Gly)	OCA2 (R811G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012246	NM_000275.3(OCA2):c.2430C>T (p.Phe810=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423583	NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu)	OCA2 (F809L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2982579	NM_000275.3(OCA2):c.2424A>G (p.Glu808=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924616	NM_000275.3(OCA2):c.2414C>G (p.Ser805Cys)	OCA2 (S805C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697216	NM_000275.3(OCA2):c.2412C>T (p.Phe804=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2695849	NM_000275.3(OCA2):c.2409G>A (p.Gly803=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872635	NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter)	OCA2 (Y778* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1354860	NM_000275.3(OCA2):c.2403A>G (p.Gly801=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2730986	NM_000275.3(OCA2):c.2401G>T (p.Gly801Ter)	OCA2 (G777* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2677398	NM_000275.3(OCA2):c.2395C>T (p.Gln799Ter)	OCA2 (Q775* +1 more)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 1468405	NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys)	OCA2 (Q775K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2180607	NM_000275.3(OCA2):c.2389G>T (p.Ala797Ser)	OCA2 (A773S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647432	NM_000275.3(OCA2):c.2385G>A (p.Gly795=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736159	NM_000275.3(OCA2):c.2383G>C (p.Gly795Arg)	OCA2 (G771R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403674	NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr)	OCA2 (C769Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2997760	NM_000275.3(OCA2):c.2376G>A (p.Val792=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137623	NM_000275.3(OCA2):c.2370CGT[1] (p.Val792del)	OCA2 (V768del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1954083	NM_000275.3(OCA2):c.2373C>T (p.Val791=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522444	NM_000275.3(OCA2):c.2373C>G (p.Val791=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082463	NM_000275.3(OCA2):c.2370C>T (p.Asn790=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2762004	NM_000275.3(OCA2):c.2361G>C (p.Ala787=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 617809	NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu)	OCA2 (A787E +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic Oculocutaneous Albinism	GLikely pathogenic
Select item 803060	NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	OCA2 (A763T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 1490771	NM_000275.3(OCA2):c.2358C>T (p.Gly786=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1454562	NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs)	OCA2 (I761fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809061	NM_000275.3(OCA2):c.2355T>C (p.Ile785=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345577	NM_000275.3(OCA2):c.2354T>C (p.Ile785Thr)	OCA2 (I761T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702764	NM_000275.3(OCA2):c.2349A>C (p.Thr783=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1928634	NM_000275.3(OCA2):c.2343C>T (p.Asn781=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3011007	NM_000275.3(OCA2):c.2339-3del	OCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1232278	NM_000275.3(OCA2):c.2339-128C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338138	NM_000275.3(OCA2):c.2338+1453C>T	OCA2	Single nucleotide variant (intron variant)	Visual impairment	GUncertain significance
Select item 1247543	NM_000275.3(OCA2):c.2338+207C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229385	NM_000275.3(OCA2):c.2338+179A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228340	NM_000275.3(OCA2):c.2338+75T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2792183	NM_000275.3(OCA2):c.2338+19C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862256	NM_000275.3(OCA2):c.2338+18G>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961233	NM_000275.3(OCA2):c.2338+18G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895640	NM_000275.3(OCA2):c.2338+18G>C	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092289	NM_000275.3(OCA2):c.2338+16C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805792	NM_000275.3(OCA2):c.2338+14G>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667662	NM_000275.3(OCA2):c.2338+13dup	OCA2	Duplication (intron variant)	not provided	GLikely benign
Select item 2840112	NM_000275.3(OCA2):c.2338+10T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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