ClinVar for Gene (Select 57711) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2615286	NM_020951.5(ZNF529):c.919G>A (p.Glu307Lys)	ZNF529 (E202K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610118	NM_020951.5(ZNF529):c.196G>A (p.Asp66Asn)	ZNF529 (D48N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607987	NM_020951.5(ZNF529):c.1388C>T (p.Ser463Leu)	ZNF529 (S358L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601820	NM_020951.5(ZNF529):c.994C>A (p.His332Asn)	ZNF529 (H227N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600974	NM_020951.5(ZNF529):c.346G>A (p.Gly116Ser)	ZNF529 (G11S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594280	NM_020951.5(ZNF529):c.718A>G (p.Lys240Glu)	ZNF529 (K135E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540500	NM_020951.5(ZNF529):c.769A>G (p.Lys257Glu)	ZNF529 (K152E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539899	NM_020951.5(ZNF529):c.697G>A (p.Gly233Arg)	ZNF529 (G215R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531562	NM_020951.5(ZNF529):c.322A>G (p.Ser108Gly)	ZNF529 (S108G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524872	NM_020951.5(ZNF529):c.1537A>G (p.Lys513Glu)	ZNF529 (K495E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508543	NM_020951.5(ZNF529):c.1579A>G (p.Ile527Val)	ZNF529 (I422V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484719	NM_020951.5(ZNF529):c.484C>T (p.Arg162Trp)	ZNF529 (R144W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481642	NM_020951.5(ZNF529):c.1525A>G (p.Lys509Glu)	ZNF529 (K404E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406663	NM_020951.5(ZNF529):c.1148G>A (p.Arg383His)	ZNF529 (R365H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373796	NM_020951.5(ZNF529):c.512A>G (p.Tyr171Cys)	ZNF529 (Y171C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348771	NM_020951.5(ZNF529):c.139A>T (p.Asn47Tyr)	ZNF529 (N47Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332009	NM_020951.5(ZNF529):c.1217G>C (p.Ser406Thr)	ZNF529 (S301T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317794	NM_020951.5(ZNF529):c.1449T>G (p.Cys483Trp)	ZNF529 (C378W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296745	NM_020951.5(ZNF529):c.632A>G (p.Asp211Gly)	ZNF529 (D193G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269239	NM_020951.5(ZNF529):c.1445T>A (p.Val482Glu)	ZNF529 (V377E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254002	NM_020951.5(ZNF529):c.983A>G (p.His328Arg)	ZNF529 (H310R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239329	NM_020951.5(ZNF529):c.352A>G (p.Ile118Val)	ZNF529 (I13V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238187	NM_020951.5(ZNF529):c.162A>C (p.Glu54Asp)	ZNF529 (E36D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227625	NM_020951.5(ZNF529):c.1619G>C (p.Gly540Ala)	ZNF529 (G540A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526662	GRCh37/hg19 19q13.12(chr19:36910874-37705345)	ZNF260, ZNF345 +12 more	Copy number loss	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 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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49