"Eurofins Ntd Llc (ga)"[submitter] AND "TYRP1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195092	NM_000550.3(TYRP1):c.278G>A (p.Arg93His)	TYRP1 (R93H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 282003	NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)	TYRP1 (E139K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197161	NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)	TYRP1 (T262M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437183	NM_000550.3(TYRP1):c.977G>A (p.Arg326His)	LURAP1L-AS1, TYRP1 (R326H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 17593	NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	LURAP1L-AS1, TYRP1 (K368fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 3 +2 more	GPathogenic/Likely pathogenic
Select item 437186	NM_000550.3(TYRP1):c.1261+1G>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198744	NM_000550.3(TYRP1):c.1500G>A (p.Leu500=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 595853	NM_000550.3(TYRP1):c.1513C>T (p.Arg505Cys)	LURAP1L-AS1, TYRP1 (R505C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198743	NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)	LURAP1L-AS1, TYRP1 (Y519*)	Single nucleotide variant (nonsense)	not specified +3 more	GBenign/Likely benign