4601[geneid] - ClinVar

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Items: 54

	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 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 146091	GRCh38/hg38 10q25.1-25.2(chr10:109544286-110311875)x3	ADD3, ADD3-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2218665	NM_130439.3(MXI1):c.13G>A (p.Gly5Arg)	LOC130004690, MXI1 (G5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254519	NM_130439.3(MXI1):c.56C>T (p.Ala19Val)	MXI1 (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367144	NM_130439.3(MXI1):c.67C>A (p.Pro23Thr)	MXI1 (P23T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037741	NM_130439.3(MXI1):c.83C>G (p.Pro28Arg)	MXI1 (P28R)	Single nucleotide variant (missense variant)	MXI1-related condition	GBenign
Select item 2489900	NM_130439.3(MXI1):c.107C>G (p.Pro36Arg)	MXI1 (P36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052445	NM_130439.3(MXI1):c.127G>A (p.Ala43Thr)	MXI1 (A43T)	Single nucleotide variant (missense variant)	MXI1-related condition	GLikely benign
Select item 2468009	NM_130439.3(MXI1):c.196A>C (p.Ile66Leu)	MXI1 (I66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284270	NM_130439.3(MXI1):c.218T>C (p.Val73Ala)	MXI1 (V73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045030	NM_130439.3(MXI1):c.291C>T (p.Tyr97=)	MXI1	Single nucleotide variant (5 prime UTR variant +1 more)	MXI1-related condition	GLikely benign
Select item 2445390	NM_130439.3(MXI1):c.314C>T (p.Pro105Leu)	MXI1 (P105L +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445275	NM_130439.3(MXI1):c.343C>T (p.Pro115Ser)	MXI1 (P115S +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2514066	NM_130439.3(MXI1):c.344C>T (p.Pro115Leu)	MXI1 (P12L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445366	NM_130439.3(MXI1):c.347G>C (p.Arg116Pro)	MXI1 (R116P +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 9537	NM_130439.3(MXI1):c.362C>T (p.Ala121Val)	MXI1 (A54V +2 more)	Single nucleotide variant (missense variant)	Neurofibrosarcoma	GPathogenic
Select item 2517666	NM_130439.3(MXI1):c.379G>A (p.Gly127Arg)	MXI1 (G24R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621985	NM_130439.3(MXI1):c.412A>G (p.Thr138Ala)	MXI1 (T138A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037977	NM_130439.3(MXI1):c.448C>T (p.Leu150=)	MXI1	Single nucleotide variant (synonymous variant)	MXI1-related condition	GBenign
Select item 2553917	NM_130439.3(MXI1):c.475G>A (p.Val159Ile)	MXI1 (V92I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9535	NM_130439.3(MXI1):c.552+2T>C	MXI1	Single nucleotide variant (splice donor variant)	Malignant tumor of prostate	GPathogenic
Select item 2540020	NM_130439.3(MXI1):c.565G>A (p.Ala189Thr)	MXI1 (A122T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9534	NM_130439.3(MXI1):c.623del (p.Lys208fs)	MXI1 (K141fs +2 more)	Deletion (frameshift variant)	Malignant tumor of prostate	GPathogenic
Select item 2593216	NM_130439.3(MXI1):c.646G>C (p.Gly216Arg)	MXI1 (G103R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9536	NM_130439.3(MXI1):c.656A>C (p.Glu219Ala)	MXI1 (E152A +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GPathogenic
Select item 2360823	NM_130439.3(MXI1):c.722G>A (p.Arg241Gln)	MXI1 (R241Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037339	NM_130439.3(MXI1):c.725-5G>T	MXI1	Single nucleotide variant (intron variant)	MXI1-related condition	GBenign
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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580339	GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3	ADRA2A, BBIP1 +7 more	Copy number gain	RASopathy	GUncertain significance
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 2425354	NC_000010.10:g.(?_111860412)_(112839579_?)dup	ADD3, ADRA2A +8 more	Duplication	Cornelia de Lange syndrome 3	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1450697	NC_000010.10:g.(?_111860412)_(112404423_?)dup	ADD3, DUSP5 +4 more	Duplication	not provided	GUncertain significance
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
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 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 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 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
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: 54