ClinVar for MedGen (Select 336542) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 3781	NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	TYR (C89R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +9 more	GPathogenic