C4551504[trait identifier] AND "Pele Pequeno Principe Research Institu - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +5 more	GPathogenic/Likely pathogenic
Select item 800539	NM_000372.5(TYR):c.391_393del (p.Lys131del)	TYR (K131del)	Deletion (inframe_deletion)	Oculocutaneous albinism type 1A +3 more	GConflicting classifications of pathogenicity
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Inborn genetic diseases +11 more	GPathogenic/Likely pathogenic
Select item 800543	NM_000372.5(TYR):c.1185-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +9 more	GPathogenic/Likely pathogenic
Select item 637017	NM_000372.5(TYR):c.1456del (p.Ala486fs)	TYR (A486fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic

ClinVar