ZNF474[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 2260392	NM_207317.3(ZNF474):c.10G>A (p.Gly4Arg)	ZNF474, ZNF474-AS1 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212392	NM_207317.3(ZNF474):c.80T>A (p.Ile27Asn)	ZNF474, ZNF474-AS1 (I27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258339	NM_207317.3(ZNF474):c.166A>G (p.Thr56Ala)	ZNF474, ZNF474-AS1 (T56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303964	NM_207317.3(ZNF474):c.173C>T (p.Thr58Ile)	ZNF474, ZNF474-AS1 (T58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207241	NM_207317.3(ZNF474):c.179A>G (p.Lys60Arg)	ZNF474, ZNF474-AS1 (K60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398594	NM_207317.3(ZNF474):c.187C>A (p.Pro63Thr)	ZNF474, ZNF474-AS1 (P63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488173	NM_207317.3(ZNF474):c.188C>A (p.Pro63His)	ZNF474, ZNF474-AS1 (P63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471498	NM_207317.3(ZNF474):c.260T>C (p.Ile87Thr)	ZNF474, ZNF474-AS1 (I87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783444	NM_207317.3(ZNF474):c.264G>A (p.Pro88=)	ZNF474, ZNF474-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474429	NM_207317.3(ZNF474):c.269G>T (p.Arg90Leu)	ZNF474, ZNF474-AS1 (R90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784058	NM_207317.3(ZNF474):c.269G>A (p.Arg90His)	ZNF474, ZNF474-AS1 (R90H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3196053	NM_207317.3(ZNF474):c.274C>T (p.Pro92Ser)	ZNF474, ZNF474-AS1 (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788987	NM_207317.3(ZNF474):c.286G>T (p.Val96Leu)	ZNF474, ZNF474-AS1 (V96L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2531066	NM_207317.3(ZNF474):c.429C>A (p.Ser143Arg)	ZNF474, ZNF474-AS1 (S143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473445	NM_207317.3(ZNF474):c.436G>A (p.Gly146Arg)	ZNF474, ZNF474-AS1 (G146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258335	NM_207317.3(ZNF474):c.517C>T (p.Arg173Cys)	ZNF474, ZNF474-AS1 (R173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196054	NM_207317.3(ZNF474):c.572G>T (p.Gly191Val)	ZNF474, ZNF474-AS1 (G191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784059	NM_207317.3(ZNF474):c.595T>C (p.Ser199Pro)	ZNF474, ZNF474-AS1 (S199P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2303965	NM_207317.3(ZNF474):c.616A>T (p.Thr206Ser)	ZNF474, ZNF474-AS1 (T206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196055	NM_207317.3(ZNF474):c.628A>G (p.Lys210Glu)	ZNF474, ZNF474-AS1 (K210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345697	NM_207317.3(ZNF474):c.649G>C (p.Ala217Pro)	ZNF474, ZNF474-AS1 (A217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511934	NM_207317.3(ZNF474):c.653G>A (p.Arg218Gln)	ZNF474, ZNF474-AS1 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784060	NM_207317.3(ZNF474):c.668T>C (p.Ile223Thr)	ZNF474, ZNF474-AS1 (I223T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3196056	NM_207317.3(ZNF474):c.688G>C (p.Glu230Gln)	ZNF474, ZNF474-AS1 (E230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258337	NM_207317.3(ZNF474):c.725A>G (p.Lys242Arg)	ZNF474, ZNF474-AS1 (K242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196057	NM_207317.3(ZNF474):c.764C>T (p.Pro255Leu)	ZNF474, ZNF474-AS1 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487192	NM_207317.3(ZNF474):c.775C>T (p.His259Tyr)	ZNF474, ZNF474-AS1 (H259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258334	NM_207317.3(ZNF474):c.809C>T (p.Pro270Leu)	ZNF474, ZNF474-AS1 (P270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228226	NM_207317.3(ZNF474):c.830C>T (p.Ala277Val)	ZNF474, ZNF474-AS1 (A277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288355	NM_207317.3(ZNF474):c.836C>G (p.Pro279Arg)	ZNF474, ZNF474-AS1 (P279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408159	NM_207317.3(ZNF474):c.871A>T (p.Ser291Cys)	ZNF474, ZNF474-AS1 (S291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549021	NM_207317.3(ZNF474):c.875G>T (p.Arg292Leu)	ZNF474, ZNF474-AS1 (R292L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258338	NM_207317.3(ZNF474):c.877A>G (p.Ile293Val)	ZNF474, ZNF474-AS1 (I293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345003	NM_207317.3(ZNF474):c.893G>A (p.Arg298His)	ZNF474, ZNF474-AS1 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269826	NM_207317.3(ZNF474):c.905A>G (p.His302Arg)	ZNF474, ZNF474-AS1 (H302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596013	NM_207317.3(ZNF474):c.982G>C (p.Glu328Gln)	ZNF474, ZNF474-AS1 (E328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254728	NM_207317.3(ZNF474):c.983A>T (p.Glu328Val)	ZNF474, ZNF474-AS1 (E328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2685169	GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1	FTMT, LOX +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 686227	GRCh37/hg19 5q23.1-23.2(chr5:120035723-121808658)x1	FTMT, LOX +3 more	Copy number loss	not provided	GUncertain significance
Select item 685497	GRCh37/hg19 5q23.1-23.2(chr5:120785278-122419820)x1	FTMT, LOX +6 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443241	GRCh37/hg19 5q23.1-23.2(chr5:121108870-122778090)x4	CEP120, FTMT +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441762	GRCh37/hg19 5q23.1-23.2(chr5:120032407-123896355)x1	CEP120, CSNK1G3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221446	GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3	ZNF474, LOX +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66