"Science and Research Branch, Islamic Azad University, Islamic Azad Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209969	NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg)	OCA2 (G657R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 217806	Single allele	LOC132090299, OCA2	Deletion	Tyrosinase-positive oculocutaneous albinism	GPathogenic
Select item 209970	NM_000275.3(OCA2):c.1044+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism	GPathogenic

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