10935[geneid] - ClinVar

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Items: 75

	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 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 57911	GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3	DENND10, EIF3A +36 more	Copy number gain	See cases	GUncertain significance
Select item 2481507	NM_006793.5(PRDX3):c.730C>A (p.Pro244Thr)	PRDX3 (P244T)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2393362	NM_006793.5(PRDX3):c.720C>G (p.Ile240Met)	PRDX3 (I240M +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3025412	NM_006793.5(PRDX3):c.717+1G>A	PRDX3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2355247	NM_006793.5(PRDX3):c.716C>T (p.Thr239Met)	PRDX3 (T239M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3218496	NM_006793.5(PRDX3):c.704C>T (p.Pro235Leu)	PRDX3 (P235L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2544164	NM_006793.5(PRDX3):c.692C>T (p.Ala231Val)	PRDX3 (A231V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2443837	NM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)	PRDX3	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia, autosomal recessive 32	GPathogenic
Select item 2217094	NM_006793.5(PRDX3):c.625G>A (p.Val209Met)	PRDX3 (V209M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1686990	NM_006793.5(PRDX3):c.604G>A (p.Asp202Asn)	PRDX3 (D202N)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia, autosomal recessive 32	GPathogenic
Select item 3309849	NM_006793.5(PRDX3):c.580G>A (p.Val194Ile)	PRDX3 (V194I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1686995	NM_006793.5(PRDX3):c.568G>C (p.Asp190His)	PRDX3 (D190H)	Single nucleotide variant (missense variant +2 more)	Corneal dystrophy, punctiform and polychromatic pre-descemet	GPathogenic
Select item 3218495	NM_006793.5(PRDX3):c.539G>A (p.Gly180Asp)	PRDX3 (G180D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218494	NM_006793.5(PRDX3):c.520G>T (p.Val174Leu)	PRDX3 (V174L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640876	NM_006793.5(PRDX3):c.517G>T (p.Gly173Cys)	PRDX3 (G173C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2486106	NM_006793.5(PRDX3):c.515A>G (p.Tyr172Cys)	PRDX3 (Y172C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686992	NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)	PRDX3 (R170*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia, autosomal recessive 32	GLikely pathogenic
Select item 2446414	NM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)	PRDX3 (D163E)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 32	GPathogenic
Select item 3218493	NM_006793.5(PRDX3):c.472A>T (p.Ile158Phe)	PRDX3 (I158F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1705298	NM_006793.5(PRDX3):c.451G>A (p.Gly151Ser)	PRDX3 (G151S)	Single nucleotide variant (non-coding transcript variant +1 more)	Spinocerebellar ataxia, autosomal recessive 32	GUncertain significance
Select item 1686993	NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)	PRDX3 (A142G)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 32	GPathogenic
Select item 3309847	NM_006793.5(PRDX3):c.424G>A (p.Ala142Thr)	PRDX3 (A142T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210777	NM_006793.5(PRDX3):c.391G>A (p.Ala131Thr)	PRDX3 (A131T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640877	NM_006793.5(PRDX3):c.387T>C (p.Val129=)	PRDX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2374135	NM_006793.5(PRDX3):c.386T>C (p.Val129Ala)	PRDX3 (V129A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218492	NM_006793.5(PRDX3):c.341C>G (p.Ala114Gly)	PRDX3 (A114G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686991	NM_006793.5(PRDX3):c.340dup (p.Ala114fs)	PRDX3 (A114fs)	Duplication (frameshift variant +1 more)	Spinocerebellar ataxia, autosomal recessive 32	GPathogenic
Select item 2430737	NM_006793.5(PRDX3):c.319G>A (p.Val107Met)	PRDX3 (V107M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430405	NM_006793.5(PRDX3):c.299A>G (p.Tyr100Cys)	PRDX3 (Y100C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3218491	NM_006793.5(PRDX3):c.220G>C (p.Gly74Arg)	PRDX3 (G74R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218489	NM_006793.5(PRDX3):c.169+1G>A	PRDX3	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2596019	NM_006793.5(PRDX3):c.137C>G (p.Ser46Cys)	PRDX3 (S46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623429	NM_006793.5(PRDX3):c.113C>T (p.Thr38Met)	PRDX3 (T38M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618112	NM_006793.5(PRDX3):c.76G>T (p.Ala26Ser)	PRDX3 (A26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236001	NM_006793.5(PRDX3):c.50T>C (p.Val17Ala)	PRDX3 (V17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309848	NM_006793.5(PRDX3):c.44G>A (p.Arg15Gln)	PRDX3 (R15Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325883	NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)	PRDX3 (R15*)	Single nucleotide variant (nonsense +1 more)	Corneal dystrophy, punctiform and polychromatic pre-descemet +2 more	GPathogenic/Likely pathogenic
Select item 1686994	NM_006793.5(PRDX3):c.37-2A>G	PRDX3	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia, autosomal recessive 32	GPathogenic
Select item 2379101	NM_006793.5(PRDX3):c.8C>T (p.Ala3Val)	LOC130004826, PRDX3 (A3V)	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 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 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
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 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
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 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 979903	GRCh37/hg19 10q26.11(chr10:120937348-121168413)x3	GRK5, PRDX3	Copy number gain	not provided	GLikely benign
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 688281	GRCh37/hg19 10q26.11(chr10:120909427-121024166)x3	GRK5, PRDX3 +1 more	Copy number gain	not provided	GUncertain significance
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 685890	GRCh37/hg19 10q26.11(chr10:120933323-121007499)x3	GRK5, PRDX3	Copy number gain	not provided	GUncertain significance
Select item 685600	GRCh37/hg19 10q26.11(chr10:120583488-121118862)x3	DENND10, EIF3A +4 more	Copy number gain	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 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 563730	GRCh37/hg19 10q26.11(chr10:120826776-121098254)x3	PRDX3, SFXN4 +3 more	Copy number gain	not provided	GUncertain significance
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

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Items: 75