ClinVar for Gene (Select 147948) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258784	NM_001320371.4(ZNF582):c.1439A>G (p.Asn480Ser)	LOC126862939, ZNF582 (N480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258783	NM_001320371.4(ZNF582):c.224T>C (p.Leu75Pro)	ZNF582 (L75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258782	NM_001320371.4(ZNF582):c.1336A>G (p.Thr446Ala)	LOC126862939, ZNF582 (T446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258781	NM_001320371.4(ZNF582):c.710A>G (p.Asn237Ser)	LOC126862939, ZNF582 (N237S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258780	NM_001320371.4(ZNF582):c.1195G>C (p.Val399Leu)	LOC126862939, ZNF582 (V399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258779	NM_001320371.4(ZNF582):c.898G>C (p.Val300Leu)	LOC126862939, ZNF582 (V300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196933	NM_001320371.4(ZNF582):c.716G>A (p.Gly239Asp)	LOC126862939, ZNF582 (G239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196932	NM_001320371.4(ZNF582):c.575T>G (p.Ile192Ser)	LOC126862939, ZNF582 (I192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196931	NM_001320371.4(ZNF582):c.448C>T (p.Pro150Ser)	ZNF582 (P150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196930	NM_001320371.4(ZNF582):c.388A>G (p.Arg130Gly)	ZNF582 (R130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196929	NM_001320371.4(ZNF582):c.1484T>G (p.Leu495Arg)	LOC126862939, ZNF582 (L495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196927	NM_001320371.4(ZNF582):c.139C>G (p.Leu47Val)	ZNF582 (L47V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196926	NM_001320371.4(ZNF582):c.1399G>A (p.Val467Ile)	LOC126862939, ZNF582 (V467I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196925	NM_001320371.4(ZNF582):c.122A>T (p.Asn41Ile)	ZNF582 (N41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196924	NM_001320371.4(ZNF582):c.1049A>G (p.Gln350Arg)	LOC126862939, ZNF582 (Q350R)	Single nucleotide variant (missense variant)	not specified	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 3058896	NM_001320371.4(ZNF582):c.1290G>A (p.Lys430=)	LOC126862939, ZNF582	Single nucleotide variant (synonymous variant)	ZNF582-related disorder	GBenign
Select item 3040476	NM_001320371.4(ZNF582):c.1533T>C (p.Asn511=)	LOC126862939, ZNF582	Single nucleotide variant (synonymous variant)	ZNF582-related disorder	GBenign
Select item 3033172	NM_001320371.4(ZNF582):c.1179A>G (p.Lys393=)	LOC126862939, ZNF582	Single nucleotide variant (synonymous variant)	ZNF582-related disorder	GLikely benign
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 2650560	NM_001320371.4(ZNF582):c.603T>C (p.Cys201=)	LOC126862939, ZNF582	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617858	NM_001320371.4(ZNF582):c.1449T>A (p.Asn483Lys)	LOC126862939, ZNF582 (N483K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605075	NM_001320371.4(ZNF582):c.738G>T (p.Gln246His)	LOC126862939, ZNF582 (Q246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556629	NM_001320371.4(ZNF582):c.1442T>C (p.Ile481Thr)	LOC126862939, ZNF582 (I481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527433	NM_001320371.4(ZNF582):c.418C>T (p.His140Tyr)	ZNF582 (H140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522855	NM_001320371.4(ZNF582):c.1207G>A (p.Ala403Thr)	LOC126862939, ZNF582 (A403T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462817	NM_001320371.4(ZNF582):c.1252A>G (p.Thr418Ala)	LOC126862939, ZNF582 (T418A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457031	NM_001320371.4(ZNF582):c.1379T>C (p.Leu460Ser)	LOC126862939, ZNF582 (L460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398720	NM_001320371.4(ZNF582):c.1268A>G (p.Tyr423Cys)	LOC126862939, ZNF582 (Y423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302616	NM_001320371.4(ZNF582):c.732A>T (p.Gln244His)	LOC126862939, ZNF582 (Q244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285992	NM_001320371.4(ZNF582):c.1327G>A (p.Val443Ile)	LOC126862939, ZNF582 (V443I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279102	NM_001320371.4(ZNF582):c.1478C>T (p.Pro493Leu)	LOC126862939, ZNF582 (P493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	PPP1R15A, PPP2R1A +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 785644	NM_001320371.4(ZNF582):c.206G>C (p.Arg69Thr)	ZNF582 (R69T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
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 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 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
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 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 102452	NM_001320371.4(ZNF582):c.193T>G (p.Trp65Gly)	ZNF582 (W65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 102451	NM_001320371.4(ZNF582):c.1034G>A (p.Gly345Glu)	LOC126862939, ZNF582 (G345E)	Single nucleotide variant (missense variant)	not provided	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 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	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69