C0078917[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374021	NM_000550.3(TYRP1):c.670C>T (p.His224Tyr)	TYRP1 (H224Y)	Single nucleotide variant (missense variant)	Ocular albinism	GLikely pathogenic
Select item 374020	NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser)	LURAP1L-AS1, TYRP1 (N378S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 373911	NM_000372.5(TYR):c.74dup (p.Ser26fs)	TYR (S26fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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
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 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	Albinism +10 more	GPathogenic/Likely pathogenic
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 373941	NM_000273.3(GPR143):c.12_36del (p.Leu6fs)	GPR143 (L6fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic

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