WWTR1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 2654218	NM_015472.6(WWTR1):c.1092T>C (p.Leu364=)	WWTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578952	NM_015472.6(WWTR1):c.1074T>C (p.Pro358=)	WWTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025796	NM_015472.6(WWTR1):c.1026C>T (p.Asn342=)	WWTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190926	NM_015472.6(WWTR1):c.988T>C (p.Phe330Leu)	WWTR1 (F330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190925	NM_015472.6(WWTR1):c.985G>A (p.Asp329Asn)	WWTR1 (D329N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394185	NM_015472.6(WWTR1):c.881A>G (p.Asn294Ser)	WWTR1 (N294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654219	NM_015472.6(WWTR1):c.846C>G (p.Pro282=)	WWTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527324	NM_015472.6(WWTR1):c.829G>C (p.Ala277Pro)	WWTR1 (A277P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325195	NM_015472.6(WWTR1):c.810G>C (p.Glu270Asp)	WWTR1 (E270D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240344	NM_015472.6(WWTR1):c.779C>T (p.Ala260Val)	WWTR1 (A260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190924	NM_015472.6(WWTR1):c.706C>G (p.Arg236Gly)	WWTR1 (R236G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654220	NM_015472.6(WWTR1):c.672G>A (p.Ala224=)	WWTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559287	NM_015472.6(WWTR1):c.658A>G (p.Ser220Gly)	WWTR1 (S220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190923	NM_015472.6(WWTR1):c.544A>G (p.Met182Val)	WWTR1 (M182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190922	NM_015472.6(WWTR1):c.500A>G (p.Asn167Ser)	WWTR1 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654221	NM_015472.6(WWTR1):c.485C>T (p.Pro162Leu)	WWTR1 (P162L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2457854	NM_015472.6(WWTR1):c.476T>C (p.Met159Thr)	WWTR1 (M159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190921	NM_015472.6(WWTR1):c.473C>T (p.Ala158Val)	WWTR1 (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319888	NM_015472.6(WWTR1):c.438A>G (p.Ile146Met)	WWTR1 (I146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654222	NM_015472.6(WWTR1):c.347A>G (p.Gln116Arg)	WWTR1 (Q116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3190920	NM_015472.6(WWTR1):c.316C>T (p.Pro106Ser)	WWTR1 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280602	NM_015472.6(WWTR1):c.290G>A (p.Gly97Asp)	WWTR1 (G97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541241	NM_015472.6(WWTR1):c.196A>G (p.Ser66Gly)	WWTR1 (S66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654223	NM_015472.6(WWTR1):c.26C>T (p.Pro9Leu)	WWTR1 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493985	NM_015472.6(WWTR1):c.22C>A (p.Pro8Thr)	WWTR1 (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654224	NM_015472.6(WWTR1):c.16G>C (p.Ala6Pro)	WWTR1 (A6P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	EIF2A, ERICH6 +28 more	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 44