21746[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606652	NM_014912.5(CPEB3):c.2075A>C (p.His692Pro)	CPEB3 (H678P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287270	NM_014912.5(CPEB3):c.2042C>T (p.Pro681Leu)	CPEB3 (P681L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076647	NM_014912.5(CPEB3):c.2002G>T (p.Ala668Ser)	CPEB3 (A654S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269169	NM_014912.5(CPEB3):c.1478A>G (p.Glu493Gly)	CPEB3 (E493G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456036	NM_014912.5(CPEB3):c.1402G>A (p.Val468Ile)	CPEB3 (V468I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076645	NM_014912.5(CPEB3):c.1373C>T (p.Thr458Ile)	CPEB3 (T458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609433	NM_014912.5(CPEB3):c.1250A>G (p.Asp417Gly)	CPEB3 (D403G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076644	NM_014912.5(CPEB3):c.1162G>A (p.Ala388Thr)	CPEB3 (A388T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216092	NM_014912.5(CPEB3):c.1105T>C (p.Tyr369His)	CPEB3 (Y369H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213391	NM_014912.5(CPEB3):c.1006G>A (p.Asp336Asn)	CPEB3 (D336N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479619	NM_014912.5(CPEB3):c.844G>T (p.Val282Leu)	CPEB3 (V282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785323	NM_014912.5(CPEB3):c.840C>T (p.Val280=)	CPEB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2231196	NM_014912.5(CPEB3):c.826G>A (p.Val276Met)	CPEB3 (V276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076651	NM_014912.5(CPEB3):c.793G>A (p.Gly265Ser)	CPEB3 (G265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076650	NM_014912.5(CPEB3):c.772C>A (p.Pro258Thr)	CPEB3 (P258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494845	NM_014912.5(CPEB3):c.760G>C (p.Ala254Pro)	CPEB3 (A254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239663	NM_014912.5(CPEB3):c.759C>A (p.Ser253Arg)	CPEB3 (S253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261110	NM_014912.5(CPEB3):c.677T>C (p.Val226Ala)	CPEB3 (V226A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2203922	NM_014912.5(CPEB3):c.646A>G (p.Met216Val)	LOC130004346, CPEB3 (M216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334807	NM_014912.5(CPEB3):c.615C>G (p.Ser205Arg)	CPEB3, LOC130004346 (S205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314138	NM_014912.5(CPEB3):c.593A>G (p.Gln198Arg)	CPEB3, LOC130004346 (Q198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076649	NM_014912.5(CPEB3):c.547C>G (p.Gln183Glu)	CPEB3, LOC130004346 (Q183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402225	NM_014912.5(CPEB3):c.541C>A (p.Pro181Thr)	CPEB3, LOC130004346 (P181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471937	NM_014912.5(CPEB3):c.453C>G (p.Phe151Leu)	CPEB3 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462681	NM_014912.5(CPEB3):c.412A>G (p.Asn138Asp)	CPEB3 (N138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481943	NM_014912.5(CPEB3):c.352G>A (p.Ala118Thr)	CPEB3 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076648	NM_014912.5(CPEB3):c.328A>G (p.Thr110Ala)	CPEB3 (T110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347001	NM_014912.5(CPEB3):c.311C>T (p.Ser104Leu)	CPEB3 (S104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616469	NM_014912.5(CPEB3):c.290C>T (p.Ala97Val)	CPEB3 (A97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348421	NM_014912.5(CPEB3):c.277C>T (p.Pro93Ser)	CPEB3 (P93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269171	NM_014912.5(CPEB3):c.266A>C (p.Gln89Pro)	CPEB3 (Q89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474787	NM_014912.5(CPEB3):c.218T>C (p.Met73Thr)	CPEB3 (M73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269170	NM_014912.5(CPEB3):c.203C>A (p.Pro68Gln)	CPEB3 (P68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269168	NM_014912.5(CPEB3):c.190G>A (p.Ala64Thr)	CPEB3 (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456873	NM_014912.5(CPEB3):c.187C>G (p.Pro63Ala)	CPEB3 (P63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483634	NM_014912.5(CPEB3):c.182C>T (p.Ala61Val)	CPEB3 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277117	NM_014912.5(CPEB3):c.101A>G (p.Glu34Gly)	CPEB3 (E34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076646	NM_014912.5(CPEB3):c.14T>C (p.Leu5Ser)	CPEB3 (L5S)	Single nucleotide variant (missense variant)	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 2685049	GRCh37/hg19 10q23.32-23.33(chr10:93419010-94107643)x4	BTAF1, CPEB3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684612	GRCh37/hg19 10q23.32(chr10:93723708-93941018)x3	BTAF1, CPEB3	Copy number gain	not provided	GUncertain significance
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)	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 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1808912	GRCh37/hg19 10q23.32(chr10:93577943-93922822)x3	BTAF1, CPEB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 688400	GRCh37/hg19 10q23.32(chr10:93761267-93941035)x1	BTAF1, CPEB3	Copy number loss	not provided	GUncertain significance
Select item 687976	GRCh37/hg19 10q23.32(chr10:93707316-93925053)x3	BTAF1, CPEB3	Copy number gain	not provided	GUncertain significance
Select item 686330	GRCh37/hg19 10q23.32(chr10:93723462-93941035)x3	BTAF1, CPEB3	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 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	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 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	A1CF, ABCC2 +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: 60