ClinVar for Gene (Select 8530) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269962	NM_003650.4(CST7):c.392T>G (p.Val131Gly)	CST7 (V131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078420	NM_003650.4(CST7):c.391G>A (p.Val131Met)	CST7 (V131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078419	NM_003650.4(CST7):c.316C>A (p.Arg106Ser)	CST7 (R106S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078417	NM_003650.4(CST7):c.288A>C (p.Arg96Ser)	CST7 (R96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619870	NM_003650.4(CST7):c.187T>C (p.Cys63Arg)	CST7 (C63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487214	NM_003650.4(CST7):c.208T>G (p.Phe70Val)	CST7 (F70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467765	NM_003650.4(CST7):c.412G>A (p.Glu138Lys)	CST7 (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307662	NM_003650.4(CST7):c.296G>C (p.Cys99Ser)	CST7 (C99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
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 979560	GRCh37/hg19 20p11.21(chr20:24685850-24948039)x3	CST7, APMAP	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
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 394073	GRCh37/hg19 20p11.21(chr20:24930152-25195470)x3	ACSS1, APMAP +3 more	Copy number gain	See cases	GUncertain significance
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 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: 29