ZNF583[gene] - ClinVar

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Items: 48

	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 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
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 2247984	NM_152478.3(ZNF583):c.86A>G (p.Asn29Ser)	ZNF583 (N29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406199	NM_152478.3(ZNF583):c.145G>A (p.Val49Ile)	ZNF583 (V49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528056	NM_152478.3(ZNF583):c.197T>C (p.Met66Thr)	ZNF583 (M66T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514367	NM_152478.3(ZNF583):c.440A>G (p.Lys147Arg)	ZNF583 (K147R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260581	NM_152478.3(ZNF583):c.518T>G (p.Ile173Arg)	ZNF583 (I173R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526745	NM_152478.3(ZNF583):c.527G>C (p.Ser176Thr)	ZNF583 (S176T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489179	NM_152478.3(ZNF583):c.704C>T (p.Thr235Ile)	ZNF583 (T235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271831	NM_152478.3(ZNF583):c.992A>T (p.Lys331Met)	ZNF583 (K331M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401521	NM_152478.3(ZNF583):c.1085G>C (p.Ser362Thr)	ZNF583 (S362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258806	NM_152478.3(ZNF583):c.1145G>T (p.Cys382Phe)	ZNF583 (C382F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245657	NM_152478.3(ZNF583):c.1208C>G (p.Thr403Ser)	ZNF583 (T403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256735	NM_152478.3(ZNF583):c.1538T>C (p.Ile513Thr)	ZNF583 (I513T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309830	NM_152478.3(ZNF583):c.1670C>A (p.Thr557Lys)	ZNF583 (T557K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
Select item 980776	GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3	GALP, NLRP13 +10 more	Copy number gain	not provided	GUncertain significance
Select item 980775	GRCh37/hg19 19q13.43(chr19:56792817-57074724)x3	ZFP28, ZNF471 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 816096	GRCh37/hg19 19q13.43(chr19:56788816-57277655)x3	SMIM17, ZNF71 +8 more	Copy number gain	not provided	GLikely benign
Select item 816095	GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3	ZSCAN5B, GALP +10 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 564598	GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1	ZNF667, ZNF471 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 more	Copy number gain	See cases	GUncertain significance
Select item 425538	GRCh37/hg19 19q13.43(chr19:56463675-56918488)x3	GALP, NLRP5 +7 more	Copy number gain	not provided	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 394098	GRCh37/hg19 19q13.43(chr19:56874577-57183789)x3	SMIM17, ZFP28 +8 more	Copy number gain	See cases	GUncertain significance
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48