WIPF3[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 3190563	NM_001080529.3(WIPF3):c.5C>T (p.Pro2Leu)	WIPF3 (P2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333119	NM_001080529.3(WIPF3):c.23C>T (p.Pro8Leu)	WIPF3 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190560	NM_001080529.3(WIPF3):c.137G>A (p.Arg46Gln)	WIPF3 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333123	NM_001080529.3(WIPF3):c.158T>C (p.Ile53Thr)	WIPF3 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377976	NM_001080529.3(WIPF3):c.167G>A (p.Gly56Glu)	WIPF3 (G56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308003	NM_001080529.3(WIPF3):c.202C>T (p.Arg68Cys)	WIPF3 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549914	NM_001080529.3(WIPF3):c.243A>T (p.Lys81Asn)	WIPF3 (K81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333122	NM_001080529.3(WIPF3):c.259G>A (p.Ala87Thr)	WIPF3 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333120	NM_001080529.3(WIPF3):c.332C>G (p.Pro111Arg)	WIPF3 (P111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375578	NM_001080529.3(WIPF3):c.350T>C (p.Val117Ala)	WIPF3 (V117A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2475020	NM_001080529.3(WIPF3):c.385C>G (p.Arg129Gly)	WIPF3 (R129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225755	NM_001080529.3(WIPF3):c.410A>G (p.Asn137Ser)	WIPF3 (N137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370808	NM_001080529.3(WIPF3):c.423C>G (p.Ser141Arg)	WIPF3 (S141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330077	NM_001080529.3(WIPF3):c.532A>T (p.Thr178Ser)	WIPF3 (T178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333111	NM_001080529.3(WIPF3):c.536C>T (p.Pro179Leu)	WIPF3 (P179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516044	NM_001080529.3(WIPF3):c.551C>T (p.Pro184Leu)	WIPF3 (P184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190562	NM_001080529.3(WIPF3):c.586A>G (p.Ile196Val)	WIPF3 (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537039	NM_001080529.3(WIPF3):c.607C>T (p.Pro203Ser)	WIPF3 (P203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333116	NM_001080529.3(WIPF3):c.632A>G (p.Asn211Ser)	WIPF3 (N211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541460	NM_001080529.3(WIPF3):c.632A>C (p.Asn211Thr)	WIPF3 (N211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283628	NM_001080529.3(WIPF3):c.635T>C (p.Leu212Pro)	WIPF3 (L212P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190564	NM_001080529.3(WIPF3):c.646G>A (p.Ala216Thr)	WIPF3 (A216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376567	NM_001080529.3(WIPF3):c.647C>T (p.Ala216Val)	WIPF3 (A216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190565	NM_001080529.3(WIPF3):c.649C>A (p.Pro217Thr)	WIPF3 (P217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509707	NM_001080529.3(WIPF3):c.649C>T (p.Pro217Ser)	WIPF3 (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333114	NM_001080529.3(WIPF3):c.650C>A (p.Pro217His)	WIPF3 (P217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190566	NM_001080529.3(WIPF3):c.653C>G (p.Pro218Arg)	WIPF3 (P218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333121	NM_001080529.3(WIPF3):c.689C>T (p.Pro230Leu)	WIPF3 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190567	NM_001080529.3(WIPF3):c.697A>G (p.Thr233Ala)	WIPF3 (T233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190568	NM_001080529.3(WIPF3):c.698C>T (p.Thr233Met)	WIPF3 (T233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190569	NM_001080529.3(WIPF3):c.716C>T (p.Pro239Leu)	WIPF3 (P239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362841	NM_001080529.3(WIPF3):c.721T>C (p.Ser241Pro)	WIPF3 (S241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609535	NM_001080529.3(WIPF3):c.743T>C (p.Val248Ala)	WIPF3 (V248A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301644	NM_001080529.3(WIPF3):c.755T>G (p.Leu252Arg)	WIPF3 (L252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477806	NM_001080529.3(WIPF3):c.766C>T (p.His256Tyr)	WIPF3 (H256Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190570	NM_001080529.3(WIPF3):c.811G>A (p.Gly271Arg)	WIPF3 (G271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299119	NM_001080529.3(WIPF3):c.886C>T (p.Leu296Phe)	WIPF3 (L296F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190571	NM_001080529.3(WIPF3):c.911C>T (p.Pro304Leu)	WIPF3 (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190572	NM_001080529.3(WIPF3):c.980C>T (p.Pro327Leu)	WIPF3 (P327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190556	NM_001080529.3(WIPF3):c.1024G>A (p.Ala342Thr)	WIPF3 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190557	NM_001080529.3(WIPF3):c.1030G>A (p.Ala344Thr)	WIPF3 (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307079	NM_001080529.3(WIPF3):c.1049C>T (p.Ala350Val)	WIPF3 (A350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190558	NM_001080529.3(WIPF3):c.1093C>G (p.Arg365Gly)	WIPF3 (R365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771722	NM_001080529.3(WIPF3):c.1105G>A (p.Gly369Ser)	WIPF3 (G369S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2361468	NM_001080529.3(WIPF3):c.1156A>G (p.Thr386Ala)	WIPF3 (T386A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333113	NM_001080529.3(WIPF3):c.1162C>T (p.Leu388Phe)	WIPF3 (L388F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510868	NM_001080529.3(WIPF3):c.1162C>A (p.Leu388Ile)	WIPF3 (L388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508021	NM_001080529.3(WIPF3):c.1199C>G (p.Pro400Arg)	WIPF3 (P400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548578	NM_001080529.3(WIPF3):c.1216G>A (p.Gly406Ser)	WIPF3 (G406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333124	NM_001080529.3(WIPF3):c.1221A>T (p.Gln407His)	WIPF3 (Q407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190559	NM_001080529.3(WIPF3):c.1288G>A (p.Asp430Asn)	WIPF3 (D430N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333115	NM_001080529.3(WIPF3):c.1291T>G (p.Phe431Val)	WIPF3 (F431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742101	NM_001080529.3(WIPF3):c.1383A>G (p.Glu461=)	WIPF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3333112	NM_001080529.3(WIPF3):c.1400C>T (p.Ser467Phe)	WIPF3 (S467F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190561	NM_001080529.3(WIPF3):c.1420A>G (p.Asn474Asp)	WIPF3 (N474D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 814950	GRCh37/hg19 7p14.3(chr7:29803827-30071557)x3	WIPF3, PLEKHA8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441970	GRCh37/hg19 7p14.3(chr7:29751912-30452918)x3	FKBP14, MTURN +4 more	Copy number gain	See cases	GUncertain significance
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
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: 81