"Clinical Genetics, Academic Medical Center"[submitter] AND "TYR"[gene - ClinVar - NCBI

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Items: 9

	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 1299917	NM_000372.5(TYR):c.51T>C (p.Ala17=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1284580	NM_000372.5(TYR):c.149C>T (p.Ser50Leu)	TYR (S50L)	Single nucleotide variant (missense variant)	TYR-related condition	GUncertain significance
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +6 more	GPathogenic
Select item 1284359	NM_000372.5(TYR):c.895C>T (p.Arg299Cys)	TYR (R299C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Tyrosinase-negative oculocutaneous albinism +10 more	GPathogenic/Likely pathogenic
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +6 more	GPathogenic
Select item 99548	NM_000372.5(TYR):c.1366+4A>G	TYR	Single nucleotide variant (intron variant)	Oculocutaneous albinism +6 more	GConflicting classifications of pathogenicity
Select item 3803	NM_000372.5(TYR):c.1467dup (p.Ala490fs)	TYR (A490fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic