ClinVar for Gene (Select 255022) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262966	NM_001001412.4(CALHM1):c.305C>T (p.Ser102Phe)	CALHM1 (S102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262965	NM_001001412.4(CALHM1):c.160G>A (p.Ala54Thr)	CALHM1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136690	NM_001001412.4(CALHM1):c.889G>T (p.Gly297Cys)	CALHM1 (G297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136689	NM_001001412.4(CALHM1):c.682C>A (p.Arg228Ser)	CALHM1 (R228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136688	NM_001001412.4(CALHM1):c.638C>T (p.Ala213Val)	CALHM1 (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136687	NM_001001412.4(CALHM1):c.617G>A (p.Arg206Gln)	CALHM1 (R206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136686	NM_001001412.4(CALHM1):c.485C>T (p.Pro162Leu)	CALHM1 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136685	NM_001001412.4(CALHM1):c.403G>A (p.Val135Met)	CALHM1 (V135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136684	NM_001001412.4(CALHM1):c.329C>T (p.Ala110Val)	CALHM1 (A110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136683	NM_001001412.4(CALHM1):c.319G>A (p.Ala107Thr)	CALHM1 (A107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136682	NM_001001412.4(CALHM1):c.149C>T (p.Ala50Val)	CALHM1 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136681	NM_001001412.4(CALHM1):c.1012G>A (p.Glu338Lys)	CALHM1 (E338K)	Single nucleotide variant (missense variant)	not specified	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 2640807	NM_001001412.4(CALHM1):c.175G>A (p.Ala59Thr)	CALHM1 (A59T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600818	NM_001001412.4(CALHM1):c.353C>T (p.Thr118Met)	CALHM1 (T118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2545604	NM_001001412.4(CALHM1):c.982G>T (p.Ala328Ser)	CALHM1 (A328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542052	NM_001001412.4(CALHM1):c.601G>A (p.Val201Met)	CALHM1 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515075	NM_001001412.4(CALHM1):c.701C>T (p.Thr234Met)	CALHM1 (T234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483980	NM_001001412.4(CALHM1):c.100A>T (p.Met34Leu)	CALHM1 (M34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480698	NM_001001412.4(CALHM1):c.290G>A (p.Arg97His)	CALHM1 (R97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472562	NM_001001412.4(CALHM1):c.961C>A (p.Pro321Thr)	CALHM1 (P321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2379583	NM_001001412.4(CALHM1):c.871C>T (p.Arg291Cys)	CALHM1 (R291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353807	NM_001001412.4(CALHM1):c.976G>A (p.Gly326Ser)	CALHM1 (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350867	NM_001001412.4(CALHM1):c.266G>A (p.Arg89Gln)	CALHM1 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327202	NM_001001412.4(CALHM1):c.814G>A (p.Ala272Thr)	CALHM1 (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320479	NM_001001412.4(CALHM1):c.514G>C (p.Ala172Pro)	CALHM1 (A172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291558	NM_001001412.4(CALHM1):c.932C>T (p.Pro311Leu)	CALHM1 (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287222	NM_001001412.4(CALHM1):c.416G>C (p.Gly139Ala)	CALHM1 (G139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286255	NM_001001412.4(CALHM1):c.848C>T (p.Ala283Val)	CALHM1 (A283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285084	NM_001001412.4(CALHM1):c.475G>A (p.Val159Met)	CALHM1 (V159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217193	NM_001001412.4(CALHM1):c.955G>A (p.Glu319Lys)	CALHM1 (E319K)	Single nucleotide variant (missense variant)	not specified	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 781217	NM_001001412.4(CALHM1):c.457G>A (p.Ala153Thr)	CALHM1 (A153T)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	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 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, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 381737	NM_001001412.4(CALHM1):c.461G>A (p.Arg154His)	CALHM1 (R154H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic

ClinVar

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Links from Gene

Items: 59