ClinVar for Gene (Select 163115) - ClinVar

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Links from Gene

Items: 27

	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 2600982	NR_173329.1(ZNF781):n.1703C>G	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2556440	NR_173329.1(ZNF781):n.963C>T	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2534108	NR_173329.1(ZNF781):n.1376A>G	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2476810	NR_173329.1(ZNF781):n.955C>G	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2402309	NR_173329.1(ZNF781):n.834A>T	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2378265	NR_173329.1(ZNF781):n.1148G>A	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GLikely benign
Select item 2365242	NR_173329.1(ZNF781):n.1449G>C	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2321370	NR_173329.1(ZNF781):n.1295G>C	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2274212	NR_173329.1(ZNF781):n.1539T>C	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2238738	NR_173329.1(ZNF781):n.1185A>G	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2218611	NR_173329.1(ZNF781):n.1068G>T	ZNF781	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 more	Copy number gain	not provided	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 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 393965	GRCh37/hg19 19q13.12(chr19:38177414-38204045)x1	ZNF607, ZNF781	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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	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
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27