ZNF549[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 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
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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 2496163	NM_001199295.2(ZNF549):c.77A>G (p.His26Arg)	ZNF549 (H13R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388034	NM_001199295.2(ZNF549):c.83C>A (p.Thr28Asn)	ZNF549 (T28N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385395	NM_001199295.2(ZNF549):c.280C>G (p.Pro94Ala)	ZNF549 (P81A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250787	NM_001199295.2(ZNF549):c.418T>G (p.Trp140Gly)	ZNF549 (W127G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600771	NM_001199295.2(ZNF549):c.511A>C (p.Asn171His)	ZNF549 (N171H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468511	NM_001199295.2(ZNF549):c.538A>T (p.Asn180Tyr)	ZNF549 (N167Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396029	NM_001199295.2(ZNF549):c.577A>G (p.Thr193Ala)	ZNF549 (T193A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485520	NM_001199295.2(ZNF549):c.677A>C (p.Gln226Pro)	ZNF549 (Q226P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593544	NM_001199295.2(ZNF549):c.746G>A (p.Arg249His)	ZNF549 (R249H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472586	NM_001199295.2(ZNF549):c.746G>C (p.Arg249Pro)	ZNF549 (R249P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558095	NM_001199295.2(ZNF549):c.769A>T (p.Asn257Tyr)	ZNF549 (N244Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216446	NM_001199295.2(ZNF549):c.1069G>A (p.Gly357Arg)	ZNF549 (G357R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560097	NM_001199295.2(ZNF549):c.1126C>T (p.Arg376Cys)	ZNF549 (R363C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331411	NM_001199295.2(ZNF549):c.1130T>C (p.Ile377Thr)	ZNF549 (I364T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558727	NM_001199295.2(ZNF549):c.1229T>G (p.Ile410Ser)	ZNF549 (I410S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320246	NM_001199295.2(ZNF549):c.1232A>G (p.His411Arg)	ZNF549 (H411R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304358	NM_001199295.2(ZNF549):c.1233C>A (p.His411Gln)	ZNF549 (H411Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372635	NM_001199295.2(ZNF549):c.1345A>G (p.Ile449Val)	ZNF549 (I449V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268051	NM_001199295.2(ZNF549):c.1451C>T (p.Ser484Phe)	ZNF549 (S471F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564645	NM_001199295.2(ZNF549):c.1525G>C (p.Gly509Arg)	ZNF549 (G496R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341458	NM_001199295.2(ZNF549):c.1634T>C (p.Leu545Pro)	ZNF549 (L532P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312236	NM_001199295.2(ZNF549):c.1675T>C (p.Cys559Arg)	ZNF549 (C546R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529221	NM_001199295.2(ZNF549):c.1684T>C (p.Cys562Arg)	ZNF549 (C549R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520950	NM_001199295.2(ZNF549):c.1705C>T (p.Arg569Cys)	ZNF549 (R556C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684895	GRCh37/hg19 19q13.43(chr19:58034484-58421498)x3	ZIK1, ZNF134 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1340119	GRCh37/hg19 19q13.43(chr19:58026985-58255427)x3	ZIK1, ZNF134 +9 more	Copy number gain	not provided	GLikely benign
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	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 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
Select item 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
Select item 560059	Single allele	VN1R1, ZIK1 +12 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 441564	GRCh37/hg19 19q13.43(chr19:58026984-58246176)x1	ZIK1, ZNF134 +9 more	Copy number loss	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

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Items: 47