CALHM2[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 2252339	NM_015916.5(CALHM2):c.940G>A (p.Asp314Asn)	CALHM2 (D314N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596311	NM_015916.5(CALHM2):c.850G>A (p.Val284Ile)	CALHM2 (V284I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614990	NM_015916.5(CALHM2):c.811G>A (p.Gly271Ser)	CALHM2 (G271S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293585	NM_015916.5(CALHM2):c.658T>C (p.Trp220Arg)	CALHM2 (W220R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260889	NM_015916.5(CALHM2):c.613C>T (p.Leu205Phe)	CALHM2 (L205F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222275	NM_015916.5(CALHM2):c.593T>C (p.Leu198Pro)	CALHM2 (L198P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391047	NM_015916.5(CALHM2):c.533G>A (p.Arg178His)	CALHM2 (R178H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489522	NM_015916.5(CALHM2):c.532C>T (p.Arg178Cys)	CALHM2 (R178C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520578	NM_015916.5(CALHM2):c.444C>G (p.Phe148Leu)	CALHM2 (F148L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307464	NM_015916.5(CALHM2):c.413C>T (p.Pro138Leu)	CALHM2 (P138L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389412	NM_015916.5(CALHM2):c.382T>C (p.Tyr128His)	CALHM2 (Y128H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243487	NM_015916.5(CALHM2):c.329C>T (p.Ala110Val)	CALHM2 (A110V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258609	NM_015916.5(CALHM2):c.326G>A (p.Arg109His)	CALHM2 (R109H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514865	NM_015916.5(CALHM2):c.325C>T (p.Arg109Cys)	CALHM2 (R109C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593310	NM_015916.5(CALHM2):c.176C>T (p.Ala59Val)	CALHM2 (A59V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486802	NM_015916.5(CALHM2):c.169G>A (p.Gly57Arg)	CALHM2 (G57R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603308	NM_015916.5(CALHM2):c.155G>A (p.Arg52Gln)	CALHM2 (R52Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245106	NM_015916.5(CALHM2):c.76G>A (p.Gly26Ser)	CALHM2 (G26S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551633	NM_015916.5(CALHM2):c.31T>G (p.Phe11Val)	CALHM2 (F11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527600	GRCh37/hg19 10q24.33(chr10:105064606-105508469)	ATP5MK, CALHM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 979289	GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)x3	CALHM1, SH3PXD2A +9 more	Copy number gain	not provided	GUncertain significance
Select item 815375	GRCh37/hg19 10q24.33(chr10:104915576-105241844)x3	PDCD11, CALHM2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688068	GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3	ATP5MK, CALHM1 +8 more	Copy number gain	not provided	GUncertain significance
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 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
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 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 394507	GRCh37/hg19 10q24.32-24.33(chr10:104853173-105357653)x4	ATP5MK, CALHM1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 394051	GRCh37/hg19 10q24.33(chr10:105153957-105215292)x3	ATP5MK, CALHM1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 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 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 46