ClinVar for Gene (Select 1470) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068498	NC_000020.10:g.16400000_24400000del	KIF16B, KIZ +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	THBD, XRN2 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 2605952	NM_001322.3(CST2):c.326A>C (p.Gln109Pro)	CST2 (Q109P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600444	NM_001322.3(CST2):c.232G>A (p.Val78Met)	CST2 (V78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556793	NM_001322.3(CST2):c.133C>A (p.Gln45Lys)	CST2 (Q45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536699	NM_001322.3(CST2):c.160G>A (p.Glu54Lys)	CST2 (E54K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519438	NM_001322.3(CST2):c.370G>A (p.Glu124Lys)	CST2 (E124K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461079	NM_001322.3(CST2):c.47C>T (p.Ala16Val)	CST2 (A16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409578	NM_001322.3(CST2):c.83G>A (p.Arg28Lys)	CST2 (R28K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393781	NM_001322.3(CST2):c.173C>T (p.Ala58Val)	CST2 (A58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383234	NM_001322.3(CST2):c.392T>G (p.Met131Arg)	CST2 (M131R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361841	NM_001322.3(CST2):c.338A>G (p.Gln113Arg)	CST2 (Q113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348342	NM_001322.3(CST2):c.361C>G (p.Gln121Glu)	CST2 (Q121E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296292	NM_001322.3(CST2):c.91G>A (p.Glu31Lys)	CST2 (E31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248883	NM_001322.3(CST2):c.5C>T (p.Ala2Val)	CST2 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213553	NM_001322.3(CST2):c.388A>G (p.Arg130Gly)	CST2 (R130G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213552	NM_001322.3(CST2):c.137G>A (p.Arg46His)	CST2 (R46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 777538	NM_001322.3(CST2):c.205C>T (p.Arg69Trp)	CST2 (R69W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711757	NM_001322.3(CST2):c.229-3T>C	CST2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 560101	Single allele	CST11, CST2 +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	KIF3B, KIZ +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	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 394651	GRCh37/hg19 20p11.21(chr20:23805934-23814845)x3	CST2	Copy number gain	See cases	GBenign
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	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 152497	GRCh38/hg38 20p11.21(chr20:23791993-23854834)x1	CST2, LOC130065549	Copy number loss	See cases	GLikely benign
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145900	GRCh38/hg38 20p11.21(chr20:23722274-23834208)x1	CST1, CST2 +1 more	Copy number loss	See cases	GLikely benign
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 144320	GRCh38/hg38 20p11.21(chr20:23455996-24050737)x3	GGTLC1, LOC121627900 +16 more	Copy number gain	See cases	GUncertain significance
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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42