ZFP14[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2457270	NM_020917.3(ZFP14):c.1546G>T (p.Ala516Ser)	ZFP14 (A516S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474303	NM_020917.3(ZFP14):c.1273G>C (p.Glu425Gln)	ZFP14 (E426Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244417	NM_020917.3(ZFP14):c.1261G>C (p.Glu421Gln)	ZFP14 (E422Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313092	NM_020917.3(ZFP14):c.1220G>C (p.Ser407Thr)	ZFP14 (S408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193080	NM_020917.3(ZFP14):c.1216A>G (p.Ser406Gly)	ZFP14 (S407G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255619	NM_020917.3(ZFP14):c.1153C>T (p.Arg385Cys)	ZFP14 (R385C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454226	NM_020917.3(ZFP14):c.1112A>T (p.Lys371Met)	ZFP14 (K372M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306651	NM_020917.3(ZFP14):c.1025G>A (p.Cys342Tyr)	ZFP14 (C343Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283160	NM_020917.3(ZFP14):c.991C>A (p.Gln331Lys)	ZFP14 (Q332K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783829	NM_020917.3(ZFP14):c.778G>C (p.Glu260Gln)	ZFP14 (E260Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262593	NM_020917.3(ZFP14):c.754G>A (p.Gly252Ser)	ZFP14 (G252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193082	NM_020917.3(ZFP14):c.655C>A (p.His219Asn)	ZFP14 (H220N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193081	NM_020917.3(ZFP14):c.599A>G (p.Tyr200Cys)	ZFP14 (Y200C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512506	NM_020917.3(ZFP14):c.550C>T (p.Arg184Cys)	ZFP14 (R185C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551848	NM_020917.3(ZFP14):c.323G>A (p.Arg108Lys)	ZFP14 (R109K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784391	NM_020917.3(ZFP14):c.301T>A (p.Phe101Ile)	ZFP14 (F101I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2284397	NM_020917.3(ZFP14):c.257C>A (p.Thr86Asn)	ZFP14 (T87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326673	NM_020917.3(ZFP14):c.236A>T (p.Asp79Val)	ZFP14 (D79V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278419	NM_020917.3(ZFP14):c.166A>G (p.Thr56Ala)	ZFP14 (T57A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520025	NM_020917.3(ZFP14):c.97G>C (p.Asp33His)	ZFP14 (D33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463517	NM_020917.3(ZFP14):c.50A>G (p.Gln17Arg)	ZFP14 (Q17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306652	NM_020917.3(ZFP14):c.11G>C (p.Gly4Ala)	ZFP14 (G4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291588	NM_020917.3(ZFP14):c.5C>T (p.Ala2Val)	ZFP14 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685636	GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1	ZFP14, ZFP82 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	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: 38