ClinVar for Gene (Select 163081) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196779	NM_001322917.1(ZNF567):c.1802A>C (p.Lys601Thr)	ZNF567 (K601T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196778	NM_001322917.1(ZNF567):c.1310C>T (p.Ala437Val)	ZNF567 (A437V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196777	NM_001322917.1(ZNF567):c.1237A>G (p.Arg413Gly)	ZNF567 (R382G +3 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 2606102	NM_001322917.1(ZNF567):c.147G>A (p.Met49Ile)	ZNF567 (M41I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601449	NM_001322917.1(ZNF567):c.265G>A (p.Glu89Lys)	ZNF567 (E112K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543458	NM_001322917.1(ZNF567):c.503C>T (p.Ser168Leu)	ZNF567 (S168L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521216	NM_001322917.1(ZNF567):c.955C>T (p.Arg319Cys)	ZNF567 (R342C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455191	NM_001322917.1(ZNF567):c.1788G>C (p.Lys596Asn)	ZNF567 (K565N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407831	NM_001322917.1(ZNF567):c.671G>A (p.Gly224Asp)	ZNF567 (G193D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402438	NM_001322917.1(ZNF567):c.608C>T (p.Thr203Met)	ZNF567 (T226M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388057	NM_001322917.1(ZNF567):c.1627C>T (p.Arg543Cys)	ZNF567 (R535C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386255	NM_001322917.1(ZNF567):c.1238G>T (p.Arg413Ile)	ZNF567 (R436I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299400	NM_001322917.1(ZNF567):c.1228G>C (p.Val410Leu)	ZNF567 (V379L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267359	NM_001322917.1(ZNF567):c.1598A>G (p.Tyr533Cys)	ZNF567 (Y502C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242461	NM_001322917.1(ZNF567):c.1241C>T (p.Thr414Ile)	ZNF567 (T406I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208209	NM_001322917.1(ZNF567):c.1868G>A (p.Gly623Asp)	ZNF567 (G646D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	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 394412	GRCh37/hg19 19q13.12(chr19:37130813-37342652)x3	ZNF345, ZNF461 +3 more	Copy number gain	See cases	GBenign
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: 33