"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TYRP1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364847	NM_000550.3(TYRP1):c.-70C>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 364852	NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr)	TYRP1 (A70T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1325324	NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)	TYRP1 (W117*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +2 more	GPathogenic/Likely pathogenic
Select item 1415227	NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys)	TYRP1 (G174C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +2 more	GUncertain significance
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)	Skin/hair/eye pigmentation, variation in, 11 +3 more	GPathogenic/Likely pathogenic
Select item 1304573	NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala)	LURAP1L-AS1, TYRP1 (G361A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +2 more	GUncertain significance
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 212528	NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp)	LURAP1L-AS1, TYRP1 (R471W)	Single nucleotide variant (missense variant)	Skin/hair/eye pigmentation, variation in, 11 +3 more	GUncertain significance
Select item 198743	NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)	TYRP1, LURAP1L-AS1 (Y519*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +3 more	GBenign/Likely benign