WAPL[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 3332543	NM_015045.5(WAPL):c.3460A>G (p.Ile1154Val)	WAPL (I1154V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262192	NM_015045.5(WAPL):c.3362T>C (p.Val1121Ala)	WAPL (V1115A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253158	NM_015045.5(WAPL):c.3180T>A (p.Asp1060Glu)	WAPL (D1054E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282031	NM_015045.5(WAPL):c.3133C>T (p.Arg1045Trp)	WAPL (R1039W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533247	NM_015045.5(WAPL):c.3080G>A (p.Gly1027Asp)	WAPL (G1021D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454864	NM_015045.5(WAPL):c.3061G>A (p.Asp1021Asn)	WAPL (D1015N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189482	NM_015045.5(WAPL):c.3044T>C (p.Ile1015Thr)	WAPL (I1009T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189481	NM_015045.5(WAPL):c.3043A>G (p.Ile1015Val)	WAPL (I1015V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189480	NM_015045.5(WAPL):c.3023C>G (p.Ser1008Trp)	WAPL (S1002W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204769	NM_015045.5(WAPL):c.3013A>G (p.Met1005Val)	WAPL (M1005V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189479	NM_015045.5(WAPL):c.3011A>G (p.Asn1004Ser)	WAPL (N998S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332544	NM_015045.5(WAPL):c.3002G>T (p.Cys1001Phe)	WAPL (C1001F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332545	NM_015045.5(WAPL):c.2771A>C (p.Lys924Thr)	WAPL (K918T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189478	NM_015045.5(WAPL):c.2764G>T (p.Val922Leu)	WAPL (V916L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355118	NM_015045.5(WAPL):c.2699G>A (p.Arg900His)	WAPL (R900H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337077	NM_015045.5(WAPL):c.2529A>T (p.Lys843Asn)	WAPL (K843N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523196	NM_015045.5(WAPL):c.2192G>A (p.Arg731His)	WAPL (R731H +1 more)	Single nucleotide variant (missense variant)	WAPL-related disorder	GUncertain significance
Select item 2394758	NM_015045.5(WAPL):c.2175_2178dup (p.Leu727fs)	WAPL (L721fs +1 more)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 2572007	NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)	WAPL (R668C +1 more)	Single nucleotide variant (missense variant)	Polyhydramnios +5 more	GUncertain significance
Select item 3189476	NM_015045.5(WAPL):c.1831A>T (p.Ile611Leu)	WAPL (I611L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547200	NM_015045.5(WAPL):c.1831A>G (p.Ile611Val)	WAPL (I605V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332546	NM_015045.5(WAPL):c.1813G>A (p.Val605Met)	WAPL (V605M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189474	NM_015045.5(WAPL):c.1768C>A (p.Gln590Lys)	WAPL (Q590K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412052	NM_015045.5(WAPL):c.1582A>G (p.Ile528Val)	WAPL (I528V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538938	NM_015045.5(WAPL):c.1546G>C (p.Asp516His)	WAPL (D516H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189473	NM_015045.5(WAPL):c.1519A>G (p.Asn507Asp)	WAPL (N507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604824	NM_015045.5(WAPL):c.1503T>G (p.Ser501Arg)	WAPL (S501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466692	NM_015045.5(WAPL):c.1471C>A (p.Pro491Thr)	WAPL (P491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559742	NM_015045.5(WAPL):c.1457C>T (p.Pro486Leu)	WAPL (P486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347065	NM_015045.5(WAPL):c.1439C>A (p.Thr480Asn)	WAPL (T480N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270692	NM_015045.5(WAPL):c.1438A>G (p.Thr480Ala)	WAPL (T480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189472	NM_015045.5(WAPL):c.1420A>C (p.Lys474Gln)	WAPL (K474Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189471	NM_015045.5(WAPL):c.1300C>A (p.His434Asn)	WAPL (H434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189470	NM_015045.5(WAPL):c.1270G>T (p.Val424Phe)	WAPL (V424F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323601	NM_015045.5(WAPL):c.1270G>A (p.Val424Ile)	WAPL (V424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277060	NM_015045.5(WAPL):c.1244C>T (p.Pro415Leu)	WAPL (P415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296738	NM_015045.5(WAPL):c.1152C>G (p.Phe384Leu)	WAPL (F384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217799	NM_015045.5(WAPL):c.1136G>A (p.Arg379His)	WAPL (R379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553125	NM_015045.5(WAPL):c.1009G>A (p.Ala337Thr)	WAPL (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332542	NM_015045.5(WAPL):c.995A>G (p.Asp332Gly)	WAPL (D332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189485	NM_015045.5(WAPL):c.986C>T (p.Ser329Leu)	WAPL (S329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221174	NM_015045.5(WAPL):c.982G>A (p.Glu328Lys)	WAPL (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189484	NM_015045.5(WAPL):c.956G>T (p.Ser319Ile)	WAPL (S319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471389	NM_015045.5(WAPL):c.949G>A (p.Gly317Ser)	WAPL (G317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367699	NM_015045.5(WAPL):c.850G>A (p.Val284Ile)	WAPL (V284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361494	NM_015045.5(WAPL):c.740G>C (p.Arg247Thr)	WAPL (R247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493474	NM_015045.5(WAPL):c.629C>G (p.Thr210Ser)	WAPL (T210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368129	NM_015045.5(WAPL):c.610A>G (p.Ile204Val)	WAPL (I204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332548	NM_015045.5(WAPL):c.554A>G (p.Lys185Arg)	WAPL (K185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228778	NM_015045.5(WAPL):c.536A>G (p.Asn179Ser)	WAPL (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189483	NM_015045.5(WAPL):c.508G>C (p.Glu170Gln)	WAPL (E170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538031	NM_015045.5(WAPL):c.409G>A (p.Glu137Lys)	WAPL (E137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494307	NM_015045.5(WAPL):c.385G>C (p.Val129Leu)	WAPL (V129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189477	NM_015045.5(WAPL):c.242C>A (p.Ser81Tyr)	WAPL (S81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344624	NM_015045.5(WAPL):c.163A>G (p.Ile55Val)	WAPL (I55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512371	NM_015045.5(WAPL):c.67G>A (p.Val23Ile)	WAPL (V23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2684611	GRCh37/hg19 10q23.2(chr10:87924933-88535015)x3	BMPR1A, GRID1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1340291	GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1	ADIRF, ADIRF-AS1 +19 more	Copy number loss	not provided	GPathogenic
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979280	GRCh37/hg19 10q23.2(chr10:87975634-88619777)x3	BMPR1A, GRID1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 815366	GRCh37/hg19 10q23.2(chr10:88211498-88621031)x3	BMPR1A, LDB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 395199	GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1	ANXA11, BMPR1A +24 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

ClinVar

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Items: 98