"Ambry Genetics"[submitter] AND "TYW1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185289	NM_018264.4(TYW1):c.43A>G (p.Ile15Val)	TYW1 (I15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467812	NM_018264.4(TYW1):c.148C>G (p.Gln50Glu)	TYW1 (Q50E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554464	NM_018264.4(TYW1):c.185T>C (p.Met62Thr)	TYW1 (M62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467813	NM_018264.4(TYW1):c.248A>G (p.Tyr83Cys)	TYW1 (Y83C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330444	NM_018264.4(TYW1):c.301G>T (p.Val101Phe)	TYW1 (V101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330447	NM_018264.4(TYW1):c.322G>A (p.Val108Met)	TYW1 (V108M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330448	NM_018264.4(TYW1):c.362A>G (p.His121Arg)	TYW1 (H121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330446	NM_018264.4(TYW1):c.442G>A (p.Ala148Thr)	TYW1 (A148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519869	NM_018264.4(TYW1):c.511G>C (p.Gly171Arg)	TYW1 (G171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596098	NM_018264.4(TYW1):c.613C>T (p.His205Tyr)	TYW1 (H205Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185290	NM_018264.4(TYW1):c.614A>G (p.His205Arg)	TYW1 (H205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185291	NM_018264.4(TYW1):c.659G>C (p.Ser220Thr)	TYW1 (S220T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204090	NM_018264.4(TYW1):c.667G>A (p.Gly223Ser)	TYW1 (G223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454658	NM_018264.4(TYW1):c.682G>A (p.Asp228Asn)	TYW1 (D228N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410502	NM_018264.4(TYW1):c.790C>T (p.His264Tyr)	TYW1 (H264Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185292	NM_018264.4(TYW1):c.844C>T (p.His282Tyr)	TYW1 (H282Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185293	NM_018264.4(TYW1):c.855C>A (p.Asp285Glu)	TYW1 (D285E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603056	NM_018264.4(TYW1):c.871C>T (p.Pro291Ser)	TYW1 (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531355	NM_018264.4(TYW1):c.973A>G (p.Lys325Glu)	TYW1 (K325E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185295	NM_018264.4(TYW1):c.982A>G (p.Lys328Glu)	TYW1 (K328E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248665	NM_018264.4(TYW1):c.1075G>T (p.Ala359Ser)	TYW1 (A359S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185286	NM_018264.4(TYW1):c.1244C>T (p.Ala415Val)	TYW1 (A415V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330442	NM_018264.4(TYW1):c.1317G>C (p.Met439Ile)	TYW1 (M439I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278790	NM_018264.4(TYW1):c.1350T>G (p.Ile450Met)	TYW1 (I450M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273834	NM_018264.4(TYW1):c.1356C>A (p.Asn452Lys)	TYW1 (N452K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352324	NM_018264.4(TYW1):c.1376A>G (p.Gln459Arg)	TYW1 (Q459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215028	NM_018264.4(TYW1):c.1391C>T (p.Pro464Leu)	TYW1 (P464L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598308	NM_018264.4(TYW1):c.1453G>A (p.Val485Met)	TYW1 (V485M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556265	NM_018264.4(TYW1):c.1474C>A (p.Pro492Thr)	TYW1 (P492T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390643	NM_018264.4(TYW1):c.1489T>G (p.Phe497Val)	TYW1 (F497V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185287	NM_018264.4(TYW1):c.1506C>G (p.His502Gln)	TYW1 (H502Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385522	NM_018264.4(TYW1):c.1553C>T (p.Ala518Val)	TYW1 (A518V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2620199	NM_018264.4(TYW1):c.1586T>C (p.Leu529Pro)	TYW1 (L529P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537945	NM_018264.4(TYW1):c.1637G>A (p.Arg546His)	TYW1 (R546H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537407	NM_018264.4(TYW1):c.1774G>T (p.Val592Leu)	TYW1 (V592L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204431	NM_018264.4(TYW1):c.1795T>C (p.Phe599Leu)	TYW1 (F599L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330445	NM_018264.4(TYW1):c.1843A>C (p.Ser615Arg)	TYW1 (S615R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615480	NM_018264.4(TYW1):c.1897G>A (p.Glu633Lys)	TYW1 (E633K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611979	NM_018264.4(TYW1):c.1933T>C (p.Cys645Arg)	TYW1 (C645R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478310	NM_018264.4(TYW1):c.1943A>T (p.Glu648Val)	TYW1 (E648V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367315	NM_018264.4(TYW1):c.1954T>G (p.Cys652Gly)	TYW1 (C652G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185288	NM_018264.4(TYW1):c.1966G>T (p.Ala656Ser)	TYW1 (A656S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330443	NM_018264.4(TYW1):c.2020C>T (p.Arg674Cys)	TYW1 (R674C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395632	NM_018264.4(TYW1):c.2077G>A (p.Ala693Thr)	TYW1 (A693T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597719	NM_018264.4(TYW1):c.2149G>A (p.Asp717Asn)	TYW1 (D717N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283625	NM_018264.4(TYW1):c.2149G>C (p.Asp717His)	TYW1 (D717H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

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Items: 46