ClinVar for Gene (Select 57677) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334439	NM_020917.3(ZFP14):c.547C>T (p.Arg183Cys)	ZFP14 (R183C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334438	NM_020917.3(ZFP14):c.405A>C (p.Gln135His)	ZFP14 (Q135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
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 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 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 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 2520025	NM_020917.3(ZFP14):c.97G>C (p.Asp33His)	ZFP14 (D33H)	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 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 2463517	NM_020917.3(ZFP14):c.50A>G (p.Gln17Arg)	ZFP14 (Q17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 2306652	NM_020917.3(ZFP14):c.11G>C (p.Gly4Ala)	ZFP14 (G4A)	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 2291588	NM_020917.3(ZFP14):c.5C>T (p.Ala2Val)	ZFP14 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
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 783829	NM_020917.3(ZFP14):c.778G>C (p.Glu260Gln)	ZFP14 (E260Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41