"Ambry Genetics"[submitter] AND "OCA2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1460031	NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg)	OCA2 (G751R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 3203918	NM_000275.3(OCA2):c.2107T>C (p.Tyr703His)	OCA2 (Y679H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2179742	NM_000275.3(OCA2):c.1906A>G (p.Met636Val)	OCA2 (M636V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2312627	NM_000275.3(OCA2):c.1888T>A (p.Leu630Met)	OCA2 (L630M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495517	NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly)	OCA2 (R616G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1978811	NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr)	OCA2 (A587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1386030	NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro)	OCA2 (T569P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1007893	NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu)	OCA2 (P539L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3302123	NM_000275.3(OCA2):c.1564G>T (p.Val522Phe)	OCA2 (V498F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2337160	NM_000275.3(OCA2):c.1547T>C (p.Ile516Thr)	OCA2 (I516T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1388557	NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser)	OCA2 (N471S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2330299	NM_000275.3(OCA2):c.1442C>T (p.Ala481Val)	OCA2 (A481V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394236	NM_000275.3(OCA2):c.1340T>C (p.Leu447Pro)	OCA2 (L423P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215968	NM_000275.3(OCA2):c.1333A>G (p.Thr445Ala)	OCA2 (T421A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1369403	NM_000275.3(OCA2):c.1298C>T (p.Ala433Val)	OCA2 (A433V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1434955	NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln)	OCA2 (R397Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 193987	NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys)	OCA2 (Y409C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2208371	NM_000275.3(OCA2):c.1135G>A (p.Val379Met)	OCA2 (V355M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2481092	NM_000275.3(OCA2):c.1061T>C (p.Leu354Pro)	OCA2 (L354P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1308940	NM_000275.3(OCA2):c.1016C>T (p.Ala339Val)	OCA2 (A339V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3203920	NM_000275.3(OCA2):c.980T>C (p.Val327Ala)	OCA2 (V327A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907838	NM_000275.3(OCA2):c.979G>A (p.Val327Ile)	OCA2 (V327I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2525055	NM_000275.3(OCA2):c.973G>A (p.Gly325Arg)	OCA2 (G325R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1460692	NM_000275.3(OCA2):c.649G>A (p.Val217Met)	OCA2 (V217M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1461458	NM_000275.3(OCA2):c.553G>T (p.Ala185Ser)	OCA2 (A185S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3203919	NM_000275.3(OCA2):c.481A>G (p.Ser161Gly)	OCA2 (S161G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355979	NM_000275.3(OCA2):c.386A>G (p.Asp129Gly)	OCA2 (D129G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302124	NM_000275.3(OCA2):c.368C>A (p.Ala123Asp)	OCA2 (A123D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1169314	NM_000275.3(OCA2):c.365C>T (p.Thr122Ile)	OCA2 (T122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1960897	NM_000275.3(OCA2):c.197A>G (p.Gln66Arg)	OCA2 (Q66R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521067	NM_000275.3(OCA2):c.131del (p.Gly44fs)	OCA2 (G44fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1490699	NM_000275.3(OCA2):c.65C>T (p.Thr22Met)	OCA2 (T22M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 1657360	NM_000275.3(OCA2):c.40G>A (p.Ala14Thr)	OCA2 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign

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Items: 42