ClinVar for Gene (Select 390980) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606121	NM_001023563.4(ZNF805):c.812A>G (p.Lys271Arg)	ZNF805 (K138R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596322	NM_001023563.4(ZNF805):c.562C>A (p.His188Asn)	ZNF805 (H188N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570252	NM_001023563.4(ZNF805):c.260A>G (p.Lys87Arg)	ZNF805 (K87R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528211	NM_001023563.4(ZNF805):c.626A>G (p.Glu209Gly)	ZNF805 (E76G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527003	NM_001023563.4(ZNF805):c.1265C>G (p.Thr422Ser)	ZNF805 (T289S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523236	NM_001023563.4(ZNF805):c.1795A>G (p.Thr599Ala)	ZNF805 (T599A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486488	NM_001023563.4(ZNF805):c.1414C>G (p.Arg472Gly)	ZNF805 (R472G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463305	NM_001023563.4(ZNF805):c.592G>A (p.Glu198Lys)	ZNF805 (E198K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388947	NM_001023563.4(ZNF805):c.632T>C (p.Val211Ala)	ZNF805 (V78A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358388	NM_001023563.4(ZNF805):c.1655C>T (p.Ser552Leu)	ZNF805 (S419L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350669	NM_001023563.4(ZNF805):c.1798G>A (p.Glu600Lys)	ZNF805 (E467K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348159	NM_001023563.4(ZNF805):c.658C>T (p.Arg220Trp)	ZNF805 (R220W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336862	NM_001023563.4(ZNF805):c.197A>G (p.Glu66Gly)	ZNF805 (E66G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330211	NM_001023563.4(ZNF805):c.1106A>G (p.Lys369Arg)	ZNF805 (K369R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313409	NM_001023563.4(ZNF805):c.462G>A (p.Met154Ile)	ZNF805 (M154I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296949	NM_001023563.4(ZNF805):c.516A>G (p.Ile172Met)	ZNF805 (I172M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281484	NM_001023563.4(ZNF805):c.35C>T (p.Ser12Phe)	ZNF805 (S12F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258786	NM_001023563.4(ZNF805):c.448C>T (p.Leu150Phe)	ZNF805 (L150F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258346	NM_001023563.4(ZNF805):c.499G>T (p.Val167Leu)	ZNF805 (V34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256688	NM_001023563.4(ZNF805):c.646C>T (p.Arg216Cys)	ZNF805 (R83C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247267	NM_001023563.4(ZNF805):c.1130G>A (p.Gly377Glu)	ZNF805 (G377E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234643	NM_001023563.4(ZNF805):c.1150G>A (p.Ala384Thr)	ZNF805 (A251T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231976	NM_001023563.4(ZNF805):c.1649G>A (p.Arg550His)	ZNF805 (R550H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 685408	GRCh37/hg19 19q13.43(chr19:57718739-57760953)x1	AURKC, ZNF264 +1 more	Copy number loss	not provided	GUncertain significance
Select item 684929	GRCh37/hg19 19q13.43(chr19:57737113-57771792)x1	AURKC, ZNF805	Copy number loss	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	not provided	GUncertain significance
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 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46