C0001916[trait identifier] AND "Centre for Mendelian Genomics, Univers - 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 3781	NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	TYR (C89R)	Single nucleotide variant (missense variant)	Albinism +9 more	GPathogenic
Select item 99562	NM_000372.5(TYR):c.325G>A (p.Gly109Arg)	TYR (G109R)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +7 more	GPathogenic/Likely pathogenic
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 3779	NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	TYR (R402Q)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +4 more	GConflicting classifications of pathogenicity; other
Select item 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	Fair hair +10 more	GPathogenic/Likely pathogenic
Select item 523490	NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)	NRL (E156fs +1 more)	Duplication (frameshift variant)	Abnormality of metabolism/homeostasis +6 more	GUncertain significance
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GConflicting classifications of pathogenicity

ClinVar