CST11[gene] - ClinVar

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Items: 35

	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 2472823	NM_130794.2(CST11):c.412G>T (p.Asp138Tyr)	CST11, CSTL1 (D103Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078399	NM_130794.2(CST11):c.278C>A (p.Thr93Asn)	CST11, CSTL1 (T93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618620	NM_130794.2(CST11):c.277A>G (p.Thr93Ala)	CST11, CSTL1 (T93A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269954	NM_130794.2(CST11):c.224G>A (p.Arg75Lys)	CST11, CSTL1 (R75K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509839	NM_130794.2(CST11):c.199A>T (p.Ile67Phe)	CST11, CSTL1 (I67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543210	NM_130794.2(CST11):c.198G>T (p.Arg66Ser)	CST11, CSTL1 (R66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456771	NM_130794.2(CST11):c.157G>A (p.Asp53Asn)	CST11, CSTL1 (D53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078398	NM_130794.2(CST11):c.110T>C (p.Val37Ala)	CST11, CSTL1 (V37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352016	NM_130794.2(CST11):c.100G>A (p.Val34Ile)	CST11, CSTL1 (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283421	NM_130794.2(CST11):c.73C>A (p.Gln25Lys)	CST11, CSTL1 (Q25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078400	NM_130794.2(CST11):c.61G>C (p.Ala21Pro)	CST11, CSTL1 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366843	NM_130794.2(CST11):c.8C>G (p.Ala3Gly)	CST11, CSTL1 (A3G)	Single nucleotide variant (missense variant)	not specified	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	PTPRA, RAD21L1 +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 979558	GRCh37/hg19 20p11.21(chr20:23413239-23569271)x1	CSTL1, CST8 +2 more	Copy number loss	not provided	GLikely benign
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: 35