63908[Gene ID] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 161755	NM_022080.3(NAPB):c.786+2T>C	NAPB	Single nucleotide variant (splice donor variant)	Malignant tumor of prostate	GUncertain significance
Select item 2617794	NM_022080.3(NAPB):c.785C>T (p.Ala262Val)	NAPB (A262V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539977	NM_022080.3(NAPB):c.722G>A (p.Cys241Tyr)	NAPB (C147Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277270	NM_022080.3(NAPB):c.642C>A (p.Phe214Leu)	NAPB (F120L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250768	NM_022080.3(NAPB):c.616T>C (p.Phe206Leu)	NAPB (F206L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557445	NM_022080.3(NAPB):c.577A>G (p.Met193Val)	NAPB (M197V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 234936	NM_022080.3(NAPB):c.479C>A (p.Ser160Ter)	NAPB (S160* +3 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy-107	GPathogenic
Select item 2410619	NM_022080.3(NAPB):c.424A>G (p.Ile142Val)	NAPB (I146V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978476	NM_022080.3(NAPB):c.421-1G>A	NAPB	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy-107 +1 more	GConflicting classifications of pathogenicity
Select item 3175136	NM_022080.3(NAPB):c.373A>G (p.Ile125Val)	NAPB (I86V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175132	NM_022080.3(NAPB):c.340A>G (p.Met114Val)	NAPB (M75V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2572575	NM_022080.3(NAPB):c.333C>A (p.Tyr111Ter)	NAPB (Y111* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy-107	GPathogenic
Select item 2652239	NM_022080.3(NAPB):c.296-8C>T	NAPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2231745	NM_022080.3(NAPB):c.236A>G (p.His79Arg)	NAPB (M1V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 984717	NM_022080.3(NAPB):c.173G>A (p.Trp58Ter)	NAPB (W58*)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy-107	GPathogenic
Select item 2232187	NM_022080.3(NAPB):c.125G>A (p.Cys42Tyr)	NAPB (C42Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3045570	NM_022080.3(NAPB):c.69C>T (p.Ala23=)	NAPB	Single nucleotide variant (synonymous variant +2 more)	NAPB-related disorder	GLikely benign
Select item 709378	NM_022080.3(NAPB):c.65A>G (p.Lys22Arg)	LOC130065540, NAPB (K22R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2329879	NM_022080.3(NAPB):c.52G>A (p.Glu18Lys)	LOC130065540, NAPB (E18K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2242371	NM_022080.3(NAPB):c.11C>G (p.Ala4Gly)	LOC130065540, NAPB (A4G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2663807	NM_022080.3(NAPB):c.2T>G (p.Met1Arg)	LOC130065540, NAPB (M1R)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy-107	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1809075	GRCh37/hg19 20p11.21(chr20:23142478-24824349)x3	CST1, CST11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 548966	GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1	CD93, CST1 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 43