"Ambry Genetics"[submitter] AND "TYRP1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1411359	NM_000550.3(TYRP1):c.80C>G (p.Pro27Arg)	TYRP1 (P27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1299137	NM_000550.3(TYRP1):c.87G>C (p.Gln29His)	TYRP1 (Q29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3330432	NM_000550.3(TYRP1):c.106T>A (p.Leu36Met)	TYRP1 (L36M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610287	NM_000550.3(TYRP1):c.115G>C (p.Gly39Arg)	TYRP1 (G39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365418	NM_000550.3(TYRP1):c.163C>T (p.Arg55Cys)	TYRP1 (R55C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3185267	NM_000550.3(TYRP1):c.211G>A (p.Asp71Asn)	TYRP1 (D71N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268217	NM_000550.3(TYRP1):c.328T>G (p.Cys110Gly)	TYRP1 (C110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1617857	NM_000550.3(TYRP1):c.336G>A (p.Thr112=)	TYRP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2262528	NM_000550.3(TYRP1):c.341G>A (p.Arg114His)	TYRP1 (R114H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385048	NM_000550.3(TYRP1):c.358G>C (p.Ala120Pro)	TYRP1 (A120P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3185268	NM_000550.3(TYRP1):c.362C>T (p.Ala121Val)	TYRP1 (A121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185269	NM_000550.3(TYRP1):c.454A>G (p.Lys152Glu)	TYRP1 (K152E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330433	NM_000550.3(TYRP1):c.458G>A (p.Arg153His)	TYRP1 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330431	NM_000550.3(TYRP1):c.520G>A (p.Gly174Ser)	TYRP1 (G174S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185270	NM_000550.3(TYRP1):c.604G>A (p.Gly202Arg)	TYRP1 (G202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917219	NM_000550.3(TYRP1):c.610G>A (p.Gly204Arg)	TYRP1 (G204R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2145102	NM_000550.3(TYRP1):c.631G>C (p.Val211Leu)	TYRP1 (V211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2185399	NM_000550.3(TYRP1):c.675G>T (p.Arg225Ser)	TYRP1 (R225S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2472647	NM_000550.3(TYRP1):c.706C>A (p.Gln236Lys)	TYRP1 (Q236K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185271	NM_000550.3(TYRP1):c.820T>C (p.Ser274Pro)	TYRP1 (S274P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181733	NM_000550.3(TYRP1):c.976C>T (p.Arg326Cys)	LURAP1L-AS1, TYRP1 (R326C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2550692	NM_000550.3(TYRP1):c.1378C>G (p.Leu460Val)	LURAP1L-AS1, TYRP1 (L460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326842	NM_000550.3(TYRP1):c.1524T>A (p.Asp508Glu)	LURAP1L-AS1, TYRP1 (D508E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115789	NM_000550.3(TYRP1):c.1564T>A (p.Tyr522Asn)	LURAP1L-AS1, TYRP1 (Y522N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2412368	NM_000550.3(TYRP1):c.1598A>G (p.Asn533Ser)	LURAP1L-AS1, TYRP1 (N533S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25