NSMCE4A[gene] - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 3202385	NM_017615.3(NSMCE4A):c.1028A>G (p.His343Arg)	NSMCE4A (H343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536006	NM_017615.3(NSMCE4A):c.974G>A (p.Arg325Gln)	NSMCE4A (R325Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640894	NM_017615.3(NSMCE4A):c.940-8C>T	NSMCE4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2399852	NM_017615.3(NSMCE4A):c.934A>T (p.Ile312Leu)	NSMCE4A (I312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336959	NM_017615.3(NSMCE4A):c.901A>C (p.Thr301Pro)	NSMCE4A (T301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570521	NM_017615.3(NSMCE4A):c.898C>T (p.Arg300Cys)	NSMCE4A (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482922	NM_017615.3(NSMCE4A):c.851C>T (p.Thr284Ile)	NSMCE4A (T284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202389	NM_017615.3(NSMCE4A):c.848A>T (p.Asp283Val)	NSMCE4A (D283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301170	NM_017615.3(NSMCE4A):c.664A>G (p.Ile222Val)	NSMCE4A (I222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301169	NM_017615.3(NSMCE4A):c.524C>T (p.Pro175Leu)	NSMCE4A (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604682	NM_017615.3(NSMCE4A):c.517G>A (p.Val173Ile)	NSMCE4A (V173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551754	NM_017615.3(NSMCE4A):c.470C>A (p.Ser157Tyr)	NSMCE4A (S157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202387	NM_017615.3(NSMCE4A):c.299G>T (p.Arg100Leu)	NSMCE4A (R100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365385	NM_017615.3(NSMCE4A):c.206A>C (p.Asp69Ala)	NSMCE4A (D69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301171	NM_017615.3(NSMCE4A):c.203T>C (p.Met68Thr)	NSMCE4A (M68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476720	NM_017615.3(NSMCE4A):c.158C>G (p.Pro53Arg)	NSMCE4A (P53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202386	NM_017615.3(NSMCE4A):c.148C>T (p.Pro50Ser)	NSMCE4A (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316641	NM_017615.3(NSMCE4A):c.130C>T (p.Arg44Trp)	NSMCE4A (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556963	NM_017615.3(NSMCE4A):c.54C>A (p.Asp18Glu)	NSMCE4A (D18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202388	NM_017615.3(NSMCE4A):c.47G>A (p.Gly16Asp)	NSMCE4A (G16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305208	NM_017615.3(NSMCE4A):c.43C>G (p.Arg15Gly)	NSMCE4A (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383467	NM_017615.3(NSMCE4A):c.22C>T (p.Arg8Cys)	NSMCE4A (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244863	NC_000010.10:g.(?_122842033)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815380	GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3	HTRA1, ARMS2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	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)	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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 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
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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: 71