HHEX[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 1255601	NM_002729.5(HHEX):c.17C>G (p.Pro6Arg)	HHEX, LOC130004359 (P6R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 2327781	NM_002729.5(HHEX):c.106G>A (p.Asp36Asn)	HHEX (D36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482508	NM_002729.5(HHEX):c.125C>T (p.Pro42Leu)	HHEX (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339551	NM_002729.5(HHEX):c.131C>T (p.Ala44Val)	HHEX (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223663	NM_002729.5(HHEX):c.136A>C (p.Thr46Pro)	HHEX (T46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284227	NM_002729.5(HHEX):c.155C>A (p.Pro52Gln)	HHEX (P52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236266	NM_002729.5(HHEX):c.200C>T (p.Thr67Ile)	HHEX (T67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602166	NM_002729.5(HHEX):c.218C>T (p.Thr73Met)	HHEX (T73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105697	NM_002729.5(HHEX):c.230C>T (p.Pro77Leu)	HHEX (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355853	NM_002729.5(HHEX):c.441C>A (p.Asp147Glu)	HHEX (D147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475514	NM_002729.5(HHEX):c.476A>G (p.Gln159Arg)	HHEX (Q159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474631	NM_002729.5(HHEX):c.638G>T (p.Ser213Ile)	HHEX (S213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528258	NM_002729.5(HHEX):c.682G>C (p.Gly228Arg)	HHEX (G228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284225	NM_002729.5(HHEX):c.700T>C (p.Ser234Pro)	HHEX (S234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771435	NM_002729.5(HHEX):c.701C>G (p.Ser234Cys)	HHEX (S234C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3105699	NM_002729.5(HHEX):c.704A>C (p.Gln235Pro)	HHEX (Q235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105700	NM_002729.5(HHEX):c.718C>T (p.Pro240Ser)	HHEX (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284226	NM_002729.5(HHEX):c.730G>A (p.Glu244Lys)	HHEX (E244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620587	NM_002729.5(HHEX):c.787G>A (p.Asp263Asn)	HHEX (D263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 221476	GRCh37/hg19 10q23.33(chr10:94368870-94715405)x3	EXOC6, HHEX +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41