C4551504[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia +18 more	GPathogenic/Likely pathogenic
Select item 1339219	NM_000372.5(TYR):c.157G>C (p.Gly53Arg)	TYR (G53R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic
Select item 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Ocular albinism +10 more	GPathogenic/Likely pathogenic
Select item 1338974	NM_000372.5(TYR):c.1202T>C (p.Leu401Pro)	TYR (L401P)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GUncertain significance

ClinVar