ClinVar for Gene (Select 54780) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3202389	NM_017615.3(NSMCE4A):c.848A>T (p.Asp283Val)	NSMCE4A (D283V)	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 3202387	NM_017615.3(NSMCE4A):c.299G>T (p.Arg100Leu)	NSMCE4A (R100L)	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 3202385	NM_017615.3(NSMCE4A):c.1028A>G (p.His343Arg)	NSMCE4A (H343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2640894	NM_017615.3(NSMCE4A):c.940-8C>T	NSMCE4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2570521	NM_017615.3(NSMCE4A):c.898C>T (p.Arg300Cys)	NSMCE4A (R300C)	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 2551754	NM_017615.3(NSMCE4A):c.470C>A (p.Ser157Tyr)	NSMCE4A (S157Y)	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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 2476720	NM_017615.3(NSMCE4A):c.158C>G (p.Pro53Arg)	NSMCE4A (P53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
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 2383467	NM_017615.3(NSMCE4A):c.22C>T (p.Arg8Cys)	NSMCE4A (R8C)	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 2336959	NM_017615.3(NSMCE4A):c.901A>C (p.Thr301Pro)	NSMCE4A (T301P)	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 2305208	NM_017615.3(NSMCE4A):c.43C>G (p.Arg15Gly)	NSMCE4A (R15G)	Single nucleotide variant (missense variant)	not specified	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
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 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	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 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 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 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 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 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 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 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 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 71