WFDC1[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
Select item 718633	NM_021197.4(WFDC1):c.13G>A (p.Gly5Ser)	WFDC1 (G5S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2351249	NM_021197.4(WFDC1):c.16G>A (p.Val6Met)	WFDC1 (V6M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2559639	NM_021197.4(WFDC1):c.32G>A (p.Cys11Tyr)	WFDC1 (C11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333058	NM_021197.4(WFDC1):c.36G>C (p.Arg12Ser)	WFDC1 (R12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608313	NM_021197.4(WFDC1):c.53C>T (p.Ala18Val)	WFDC1 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747367	NM_021197.4(WFDC1):c.81C>T (p.His27=)	WFDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333052	NM_021197.4(WFDC1):c.82G>A (p.Ala28Thr)	WFDC1 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569235	NM_021197.4(WFDC1):c.85G>A (p.Gly29Ser)	WFDC1 (G29S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551722	NM_021197.4(WFDC1):c.110G>A (p.Arg37Gln)	WFDC1 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322335	NM_021197.4(WFDC1):c.119C>T (p.Pro40Leu)	WFDC1 (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598285	NM_021197.4(WFDC1):c.136A>G (p.Lys46Glu)	WFDC1 (K46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736832	NM_021197.4(WFDC1):c.168C>A (p.Gly56=)	WFDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190460	NM_021197.4(WFDC1):c.176G>A (p.Arg59Gln)	WFDC1 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335795	NM_021197.4(WFDC1):c.256G>A (p.Asp86Asn)	WFDC1 (D86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190461	NM_021197.4(WFDC1):c.263A>C (p.Glu88Ala)	WFDC1 (E88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521801	NM_021197.4(WFDC1):c.268C>G (p.Pro90Ala)	WFDC1 (P90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333057	NM_021197.4(WFDC1):c.277C>T (p.Arg93Trp)	WFDC1 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333056	NM_021197.4(WFDC1):c.294C>G (p.Asn98Lys)	WFDC1 (N98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380595	NM_021197.4(WFDC1):c.332C>A (p.Pro111Gln)	WFDC1 (P111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190462	NM_021197.4(WFDC1):c.380G>T (p.Gly127Val)	WFDC1 (G127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190463	NM_021197.4(WFDC1):c.385G>T (p.Gly129Cys)	WFDC1 (G129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774721	NM_021197.4(WFDC1):c.412G>A (p.Val138Met)	WFDC1 (V138M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2622790	NM_021197.4(WFDC1):c.473C>T (p.Ser158Leu)	WFDC1 (S157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190464	NM_021197.4(WFDC1):c.481G>A (p.Glu161Lys)	WFDC1 (E160K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333055	NM_021197.4(WFDC1):c.491T>C (p.Ile164Thr)	WFDC1 (I163T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326715	NM_021197.4(WFDC1):c.503G>A (p.Gly168Asp)	WFDC1 (G168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553468	NM_021197.4(WFDC1):c.518G>T (p.Gly173Val)	WFDC1 (G172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719534	NM_021197.4(WFDC1):c.541G>A (p.Val181Ile)	WFDC1 (V180I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2592132	NM_021197.4(WFDC1):c.553C>G (p.Arg185Gly)	WFDC1 (R185G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736083	NM_021197.4(WFDC1):c.577C>T (p.Arg193Ter)	WFDC1 (R192* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3333054	NM_021197.4(WFDC1):c.578G>A (p.Arg193Gln)	WFDC1 (R192Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715685	NM_021197.4(WFDC1):c.586C>G (p.Leu196Val)	WFDC1 (L196V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2206070	NM_021197.4(WFDC1):c.601C>T (p.Pro201Ser)	WFDC1 (P201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526539	GRCh37/hg19 16q24.1(chr16:84319435-85011988)	WFDC1, ZDHHC7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526538	GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751)	DNAAF1, HSDL1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526536	GRCh37/hg19 16q23.3-24.1(chr16:84035055-84346054)	DNAAF1, HSDL1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1526534	GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026)	NECAB2, CDH13 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815859	GRCh37/hg19 16q24.1(chr16:84287421-84346054)x1	WFDC1	Copy number loss	not provided	GLikely benign
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564363	GRCh37/hg19 16q23.3-24.1(chr16:84111320-84485022)x3	TAF1C, KCNG4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 393766	GRCh37/hg19 16q23.3-24.1(chr16:84098379-84402295)x3	ADAD2, ATP2C2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 219038	GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1	ADAD2, ATP2C2 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 97