EXOSC1[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 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 2545790	NM_016046.5(EXOSC1):c.548G>A (p.Arg183Gln)	EXOSC1 (R140Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591977	NM_016046.5(EXOSC1):c.470A>C (p.His157Pro)	EXOSC1 (H157P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227281	NM_016046.5(EXOSC1):c.362G>A (p.Ser121Asn)	EXOSC1 (S96N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556308	NM_016046.5(EXOSC1):c.356A>G (p.Tyr119Cys)	EXOSC1 (Y119C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511040	NM_016046.5(EXOSC1):c.310C>T (p.Arg104Cys)	EXOSC1 (R104C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2381681	NM_016046.5(EXOSC1):c.281C>T (p.Pro94Leu)	EXOSC1 (L6F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1068761	NM_016046.5(EXOSC1):c.104C>T (p.Ser35Leu)	EXOSC1 (S35L)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia, type 1F	GPathogenic
Select item 2362532	NM_016046.5(EXOSC1):c.16A>G (p.Arg6Gly)	EXOSC1 (R6G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	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 3063163	GRCh37/hg19 10q24.1-24.2(chr10:99109931-99405396)x3	ANKRD2, C10orf62 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808078	GRCh37/hg19 10q24.1-24.2(chr10:99027360-99300723)x1	ARHGAP19, EXOSC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1527598	GRCh37/hg19 10q24.1-24.2(chr10:99070594-99445724)	ANKRD2, AVPI1 +12 more	Copy number gain	not specified	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 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)	A1CF, ABCC2 +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 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
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

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Items: 28