ClinVar for Gene (Select 10047) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269965	NM_005492.4(CST8):c.175G>C (p.Glu59Gln)	CST8 (E59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269964	NM_005492.4(CST8):c.85A>G (p.Thr29Ala)	CST8 (T29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269963	NM_005492.4(CST8):c.280G>T (p.Asp94Tyr)	CST8 (D94Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078422	NM_005492.4(CST8):c.92T>A (p.Val31Glu)	CST8 (V31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078421	NM_005492.4(CST8):c.365T>C (p.Leu122Ser)	CST8 (L122S)	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	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2621799	NM_005492.4(CST8):c.179G>A (p.Ser60Asn)	CST8 (S60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2511487	NM_005492.4(CST8):c.360C>G (p.Ser120Arg)	CST8 (S120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481285	NM_005492.4(CST8):c.304A>G (p.Asn102Asp)	CST8 (N102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328457	NM_005492.4(CST8):c.289A>C (p.Lys97Gln)	CST8 (K97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316346	NM_005492.4(CST8):c.370G>A (p.Gly124Arg)	CST8 (G124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300951	NM_005492.4(CST8):c.279C>A (p.Ser93Arg)	CST8 (S93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288906	NM_005492.4(CST8):c.132C>A (p.Asn44Lys)	CST8 (N44K)	Single nucleotide variant (missense variant)	not specified	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 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
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 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 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 144320	GRCh38/hg38 20p11.21(chr20:23455996-24050737)x3	CST1, CST2 +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	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36