"OMIM"[submitter] AND "TYRP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17597	NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer)	TYRP1	Deletion (nonsense)	Oculocutaneous albinism type 3	GPathogenic
Select item 31621	NM_000550.3(TYRP1):c.277C>T (p.Arg93Cys)	TYRP1 (R93C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17594	NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)	TYRP1 (S166*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 17598	NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)	LURAP1L-AS1, TYRP1 (N353fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 17596	NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	LURAP1L-AS1, TYRP1 (R356Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 17593	NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	LURAP1L-AS1, TYRP1 (K368fs)	Deletion (frameshift variant)	Skin/hair/eye pigmentation, variation in, 11 +2 more	GPathogenic/Likely pathogenic
Select item 17595	NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)	LURAP1L-AS1, TYRP1 (R374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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