C4551504[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585290	NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)	TYR (E130fs)	Indel (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 585280	NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	TYR (Y327C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 585282	NM_000372.5(TYR):c.1267del (p.Glu423fs)	TYR (E423fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic

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