C0268495[trait identifier] AND "Center of Medical Genetics, Central So - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 627607	NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 627603	NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)	OCA2 (A658V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627605	NM_000275.3(OCA2):c.1637-2A>G	OCA2	Single nucleotide variant (splice acceptor variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627602	NM_000275.3(OCA2):c.1460C>A (p.Pro487His)	OCA2 (P487H +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627601	NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)	OCA2 (L429P +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 627606	NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del	OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 627600	NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)	OCA2 (P374fs +1 more)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 627599	NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)	OCA2 (S195G)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GPathogenic