CYP26A1[gene] - ClinVar

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Items: 60

	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 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 2271742	NM_000783.4(CYP26A1):c.86A>G (p.Asp29Gly)	CYP26A1 (D29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616570	NM_000783.4(CYP26A1):c.140G>A (p.Gly47Glu)	CYP26A1 (G47E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079407	NM_000783.4(CYP26A1):c.143C>T (p.Thr48Ile)	CYP26A1 (T48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079408	NM_000783.4(CYP26A1):c.305T>A (p.Leu102His)	CYP26A1 (L102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270512	NM_000783.4(CYP26A1):c.315C>A (p.His105Gln)	CYP26A1 (H105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270511	NM_000783.4(CYP26A1):c.322G>T (p.Val108Leu)	CYP26A1 (V108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481978	NM_000783.4(CYP26A1):c.350G>T (p.Arg117Leu)	CYP26A1 (R48L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079409	NM_000783.4(CYP26A1):c.424C>T (p.Arg142Trp)	CYP26A1 (R142W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775288	NM_000783.4(CYP26A1):c.432C>T (p.Phe144=)	CYP26A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270515	NM_000783.4(CYP26A1):c.436C>A (p.Arg146Ser)	CYP26A1 (R146S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221999	NM_000783.4(CYP26A1):c.436C>T (p.Arg146Cys)	CYP26A1 (R146C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778469	NM_000783.4(CYP26A1):c.447C>G (p.Leu149=)	CYP26A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2373958	NM_000783.4(CYP26A1):c.472G>A (p.Glu158Lys)	CYP26A1 (E89K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079410	NM_000783.4(CYP26A1):c.488G>A (p.Ser163Asn)	CYP26A1 (S163N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270516	NM_000783.4(CYP26A1):c.518G>A (p.Arg173His)	CYP26A1 (R173H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475816	NM_000783.4(CYP26A1):c.545A>G (p.Lys182Arg)	CYP26A1 (K182R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351143	NM_000783.4(CYP26A1):c.631G>T (p.Val211Leu)	CYP26A1 (V142L +1 more)	Single nucleotide variant (missense variant)	CYP26A1-related condition	GLikely benign
Select item 3079412	NM_000783.4(CYP26A1):c.731A>G (p.His244Arg)	CYP26A1 (H175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274646	NM_000783.4(CYP26A1):c.741C>G (p.Ile247Met)	CYP26A1 (I247M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079413	NM_000783.4(CYP26A1):c.742G>C (p.Glu248Gln)	CYP26A1 (E248Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270513	NM_000783.4(CYP26A1):c.758C>G (p.Ala253Gly)	CYP26A1 (A184G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079414	NM_000783.4(CYP26A1):c.790G>C (p.Gly264Arg)	CYP26A1 (G264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256061	NM_000783.4(CYP26A1):c.795G>C (p.Gln265His)	CYP26A1 (Q196H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270775	NM_000783.4(CYP26A1):c.853C>G (p.Leu285Val)	CYP26A1 (L285V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640682	NM_000783.4(CYP26A1):c.865-8A>G	CYP26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 208185	NM_000783.4(CYP26A1):c.905A>G (p.His302Arg)	CYP26A1 (H302R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2457143	NM_000783.4(CYP26A1):c.914C>T (p.Thr305Met)	CYP26A1 (T236M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079415	NM_000783.4(CYP26A1):c.964G>A (p.Val322Ile)	CYP26A1 (V322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351279	NM_000783.4(CYP26A1):c.1039A>G (p.Met347Val)	CYP26A1 (M278V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252035	NM_000783.4(CYP26A1):c.1057C>T (p.Leu353Phe)	CYP26A1 (L284F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333555	NM_000783.4(CYP26A1):c.1066A>G (p.Ile356Val)	CYP26A1 (I287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328411	NM_000783.4(CYP26A1):c.1093C>G (p.Arg365Gly)	CYP26A1 (R296G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293151	NM_000783.4(CYP26A1):c.1154G>A (p.Gly385Glu)	CYP26A1 (G385E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547838	NM_000783.4(CYP26A1):c.1177A>C (p.Asn393His)	CYP26A1 (N393H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785324	NM_000783.4(CYP26A1):c.1191T>C (p.Ser397=)	CYP26A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079406	NM_000783.4(CYP26A1):c.1330G>A (p.Gly444Ser)	CYP26A1 (G375S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401732	NM_000783.4(CYP26A1):c.1426A>C (p.Thr476Pro)	CYP26A1 (T407P +1 more)	Single nucleotide variant (missense variant)	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 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
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 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 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 815369	GRCh37/hg19 10q23.33(chr10:94755507-94970793)x3	CYP26C1, CYP26A1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
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 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
Select item 522175	NM_057157.2:c.1184T>C	CYP26A1	Single nucleotide variant	Optic nerve hypoplasia	GUncertain significance

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Items: 60