CST9L[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 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 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	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 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 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 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 2261325	NM_080610.3(CST9L):c.227C>A (p.Ser76Tyr)	CST9L (S76Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594846	NM_080610.3(CST9L):c.170C>T (p.Thr57Ile)	CST9L (T57I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316421	NM_080610.3(CST9L):c.158T>C (p.Phe53Ser)	CST9L (F53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490660	NM_080610.3(CST9L):c.127A>G (p.Met43Val)	CST9L (M43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309696	NM_080610.3(CST9L):c.110G>A (p.Cys37Tyr)	CST9L (C37Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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	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 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

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Items: 29