25392[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 2342195	NM_198539.4(ZNF568):c.32G>T (p.Ser11Ile)	ZNF568 (S11I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271495	NM_198539.4(ZNF568):c.59A>G (p.His20Arg)	ZNF568 (H20R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246413	NM_198539.4(ZNF568):c.130C>A (p.Pro44Thr)	ZNF568 (P44T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2494115	NM_198539.4(ZNF568):c.176A>G (p.Gln59Arg)	ZNF568 (Q59R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607500	NM_198539.4(ZNF568):c.283G>T (p.Asp95Tyr)	ZNF568 (D95Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493993	NM_198539.4(ZNF568):c.422C>G (p.Ser141Cys)	ZNF568 (S140C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338480	NM_198539.4(ZNF568):c.623G>C (p.Gly208Ala)	ZNF568 (G207A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613790	NM_198539.4(ZNF568):c.652G>A (p.Val218Ile)	ZNF568 (V154I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787488	NM_198539.4(ZNF568):c.684A>G (p.Gly228=)	ZNF568	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2620338	NM_198539.4(ZNF568):c.802C>T (p.His268Tyr)	ZNF568 (H268Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320342	NM_198539.4(ZNF568):c.977G>A (p.Arg326Gln)	ZNF568 (R326Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316513	NM_198539.4(ZNF568):c.1099T>G (p.Cys367Gly)	ZNF568 (C367G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264753	NM_198539.4(ZNF568):c.1102G>T (p.Gly368Cys)	ZNF568 (G304C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235637	NM_198539.4(ZNF568):c.1260T>G (p.Cys420Trp)	ZNF568 (C419W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357644	NM_198539.4(ZNF568):c.1303G>A (p.Val435Ile)	ZNF568 (V371I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464448	NM_198539.4(ZNF568):c.1417C>A (p.Pro473Thr)	ZNF568 (P472T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406775	NM_198539.4(ZNF568):c.1490C>T (p.Thr497Met)	ZNF568 (T497M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531563	NM_198539.4(ZNF568):c.1516G>A (p.Val506Ile)	ZNF568 (V442I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278437	NM_198539.4(ZNF568):c.1532T>G (p.Phe511Cys)	ZNF568 (F447C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2649767	NM_198539.4(ZNF568):c.1608G>C (p.Gly536=)	ZNF568	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2240545	NM_198539.4(ZNF568):c.1772G>A (p.Cys591Tyr)	ZNF568 (C527Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259506	NM_198539.4(ZNF568):c.1820G>C (p.Ser607Thr)	ZNF568 (S543T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244608	NM_001204838.2(ZNF568):c.622C>G (p.Pro208Ala)	ZNF568 (P208A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256768	NM_001204838.2(ZNF568):c.701A>C (p.Glu234Ala)	ZNF568 (E170A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368639	NM_001204838.2(ZNF568):c.797C>T (p.Ser266Phe)	ZNF568 (S266F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395776	NM_001204838.2(ZNF568):c.828G>C (p.Gln276His)	ZNF568 (Q212H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403189	NM_001204838.2(ZNF568):c.1190G>A (p.Cys397Tyr)	ZNF568 (C333Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403752	NM_001204838.2(ZNF568):c.1450T>C (p.Cys484Arg)	ZNF568 (C484R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235743	NM_001204838.2(ZNF568):c.1687T>C (p.Tyr563His)	ZNF568 (Y563H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261102	NM_001204838.2(ZNF568):c.1834A>G (p.Ser612Gly)	ZNF568 (S612G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 more	Copy number gain	not provided	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 816078	GRCh37/hg19 19q13.12(chr19:37325796-37516374)x1	ZNF829, ZNF345 +2 more	Copy number loss	not provided	GLikely benign
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 442455	GRCh37/hg19 19q13.12(chr19:37431411-37747108)x1	ZNF383, ZNF420 +3 more	Copy number loss	See cases	GUncertain significance
Select item 395395	GRCh37/hg19 19q13.12(chr19:37367725-37440672)x1	ZNF345, ZNF568 +1 more	Copy number loss	See cases	GLikely benign
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

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Items: 48