TYW1[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 1338843	GRCh38/hg38 7q11.21(chr7:66791158-67272772)	LINC02604, LOC121740683 +16 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2467812	NM_018264.4(TYW1):c.148C>G (p.Gln50Glu)	TYW1 (Q50E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554464	NM_018264.4(TYW1):c.185T>C (p.Met62Thr)	TYW1 (M62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467813	NM_018264.4(TYW1):c.248A>G (p.Tyr83Cys)	TYW1 (Y83C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519869	NM_018264.4(TYW1):c.511G>C (p.Gly171Arg)	TYW1 (G171R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596098	NM_018264.4(TYW1):c.613C>T (p.His205Tyr)	TYW1 (H205Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204090	NM_018264.4(TYW1):c.667G>A (p.Gly223Ser)	TYW1 (G223S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454658	NM_018264.4(TYW1):c.682G>A (p.Asp228Asn)	TYW1 (D228N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410502	NM_018264.4(TYW1):c.790C>T (p.His264Tyr)	TYW1 (H264Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603056	NM_018264.4(TYW1):c.871C>T (p.Pro291Ser)	TYW1 (P291S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531355	NM_018264.4(TYW1):c.973A>G (p.Lys325Glu)	TYW1 (K325E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248665	NM_018264.4(TYW1):c.1075G>T (p.Ala359Ser)	TYW1 (A359S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278790	NM_018264.4(TYW1):c.1350T>G (p.Ile450Met)	TYW1 (I450M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273834	NM_018264.4(TYW1):c.1356C>A (p.Asn452Lys)	TYW1 (N452K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352324	NM_018264.4(TYW1):c.1376A>G (p.Gln459Arg)	TYW1 (Q459R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215028	NM_018264.4(TYW1):c.1391C>T (p.Pro464Leu)	TYW1 (P464L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598308	NM_018264.4(TYW1):c.1453G>A (p.Val485Met)	TYW1 (V485M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556265	NM_018264.4(TYW1):c.1474C>A (p.Pro492Thr)	TYW1 (P492T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390643	NM_018264.4(TYW1):c.1489T>G (p.Phe497Val)	TYW1 (F497V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385522	NM_018264.4(TYW1):c.1553C>T (p.Ala518Val)	TYW1 (A518V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2620199	NM_018264.4(TYW1):c.1586T>C (p.Leu529Pro)	TYW1 (L529P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537945	NM_018264.4(TYW1):c.1637G>A (p.Arg546His)	TYW1 (R546H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 762599	NM_018264.4(TYW1):c.1767G>T (p.Ala589=)	TYW1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2537407	NM_018264.4(TYW1):c.1774G>T (p.Val592Leu)	TYW1 (V592L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204431	NM_018264.4(TYW1):c.1795T>C (p.Phe599Leu)	TYW1 (F599L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 771870	NM_018264.4(TYW1):c.1809+9C>G	TYW1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769326	NM_018264.4(TYW1):c.1895A>G (p.His632Arg)	TYW1 (H632R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2615480	NM_018264.4(TYW1):c.1897G>A (p.Glu633Lys)	TYW1 (E633K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769327	NM_018264.4(TYW1):c.1900T>C (p.Leu634=)	TYW1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611979	NM_018264.4(TYW1):c.1933T>C (p.Cys645Arg)	TYW1 (C645R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478310	NM_018264.4(TYW1):c.1943A>T (p.Glu648Val)	TYW1 (E648V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367315	NM_018264.4(TYW1):c.1954T>G (p.Cys652Gly)	TYW1 (C652G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395632	NM_018264.4(TYW1):c.2077G>A (p.Ala693Thr)	TYW1 (A693T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597719	NM_018264.4(TYW1):c.2149G>A (p.Asp717Asn)	TYW1 (D717N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283625	NM_018264.4(TYW1):c.2149G>C (p.Asp717His)	TYW1 (D717H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340942	GRCh37/hg19 7q11.21(chr7:66288000-66818352)x1	SBDS, TMEM248 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814978	GRCh37/hg19 7q11.21(chr7:66598046-66998502)x3	TYW1	Copy number gain	not provided	GUncertain significance
Select item 814977	GRCh37/hg19 7q11.21(chr7:65920197-66535478)x3	RABGEF1, TMEM248 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563381	GRCh37/hg19 7q11.21-11.22(chr7:66459397-67330825)x3	SBDS, TYW1	Copy number gain	not provided	GUncertain significance
Select item 563312	GRCh37/hg19 7q11.21(chr7:66629226-66788040)x1	TYW1	Copy number loss	not provided	GLikely benign
Select item 443613	GRCh37/hg19 7q11.21(chr7:65470729-66599216)x3	ASL, CRCP +6 more	Copy number gain	See cases	GUncertain significance
Select item 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441950	GRCh37/hg19 7q11.21-11.22(chr7:66082383-67559054)x1	KCTD7, RABGEF1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394934	GRCh37/hg19 7q11.21(chr7:66582870-66760808)x3	TYW1	Copy number gain	See cases	Gconflicting data from submitters
Select item 394443	GRCh37/hg19 7q11.21(chr7:66582870-66771054)x3	TYW1	Copy number gain	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 58