ClinVar for Gene (Select 23063) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3189484	NM_015045.5(WAPL):c.956G>T (p.Ser319Ile)	WAPL (S319I)	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 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 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 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 3189477	NM_015045.5(WAPL):c.242C>A (p.Ser81Tyr)	WAPL (S81Y)	Single nucleotide variant (missense variant)	not specified	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 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 3189473	NM_015045.5(WAPL):c.1519A>G (p.Asn507Asp)	WAPL (N507D)	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 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 2604824	NM_015045.5(WAPL):c.1503T>G (p.Ser501Arg)	WAPL (S501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2559742	NM_015045.5(WAPL):c.1457C>T (p.Pro486Leu)	WAPL (P486L)	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 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 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 2538031	NM_015045.5(WAPL):c.409G>A (p.Glu137Lys)	WAPL (E137K)	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 2512371	NM_015045.5(WAPL):c.67G>A (p.Val23Ile)	WAPL (V23I)	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 2493474	NM_015045.5(WAPL):c.629C>G (p.Thr210Ser)	WAPL (T210S)	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 2466692	NM_015045.5(WAPL):c.1471C>A (p.Pro491Thr)	WAPL (P491T)	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 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 2394758	NM_015045.5(WAPL):c.2175_2178dup (p.Leu727fs)	WAPL (L721fs +1 more)	Microsatellite (frameshift 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 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 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 2347065	NM_015045.5(WAPL):c.1439C>A (p.Thr480Asn)	WAPL (T480N)	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 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 2323601	NM_015045.5(WAPL):c.1270G>A (p.Val424Ile)	WAPL (V424I)	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 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 2277060	NM_015045.5(WAPL):c.1244C>T (p.Pro415Leu)	WAPL (P415L)	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 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 2228778	NM_015045.5(WAPL):c.536A>G (p.Asn179Ser)	WAPL (N179S)	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 2217799	NM_015045.5(WAPL):c.1136G>A (p.Arg379His)	WAPL (R379H)	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 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 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 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
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 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
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 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 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 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	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 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 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 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 98