CYP26C1[gene] - ClinVar

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Items: 85

	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 735624	NM_183374.3(CYP26C1):c.47G>C (p.Gly16Ala)	CYP26C1 (G16A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722068	NM_183374.3(CYP26C1):c.66G>T (p.Ala22=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725155	NM_183374.3(CYP26C1):c.82C>T (p.Leu28=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338459	NM_183374.3(CYP26C1):c.121C>T (p.Arg41Trp)	CYP26C1 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079432	NM_183374.3(CYP26C1):c.173T>A (p.Phe58Tyr)	CYP26C1 (F58Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717978	NM_183374.3(CYP26C1):c.184A>T (p.Thr62Ser)	CYP26C1 (T62S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2615557	NM_183374.3(CYP26C1):c.206G>A (p.Gly69Asp)	CYP26C1 (G69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270523	NM_183374.3(CYP26C1):c.277G>C (p.Val93Leu)	CYP26C1 (V93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515104	NM_183374.3(CYP26C1):c.316C>G (p.Leu106Val)	CYP26C1 (L106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617062	NM_183374.3(CYP26C1):c.328C>T (p.His110Tyr)	CYP26C1 (H110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270522	NM_183374.3(CYP26C1):c.355C>G (p.Gln119Glu)	CYP26C1 (Q119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496733	NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro)	CYP26C1 (Q119P)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia	GLikely benign
Select item 2325518	NM_183374.3(CYP26C1):c.364C>T (p.His122Tyr)	CYP26C1 (H122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242780	NM_183374.3(CYP26C1):c.395G>T (p.Gly132Val)	CYP26C1 (G132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792287	NM_183374.3(CYP26C1):c.405C>G (p.Gly135=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219206	NM_183374.3(CYP26C1):c.407A>G (p.Glu136Gly)	CYP26C1 (E136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079433	NM_183374.3(CYP26C1):c.419G>T (p.Arg140Leu)	CYP26C1 (R140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081971	NM_183374.3(CYP26C1):c.457_481del (p.Ala153fs)	CYP26C1, LOC130004370 (A153fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3058564	NM_183374.3(CYP26C1):c.459G>T (p.Ala153=)	CYP26C1, LOC130004370	Single nucleotide variant (synonymous variant)	CYP26C1-related disorder	GLikely benign
Select item 2257834	NM_183374.3(CYP26C1):c.464A>C (p.Glu155Ala)	CYP26C1, LOC130004370 (E155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039433	NM_183374.3(CYP26C1):c.522G>C (p.Ala174=)	CYP26C1, LOC130004371	Single nucleotide variant (synonymous variant)	CYP26C1-related disorder	GLikely benign
Select item 3079434	NM_183374.3(CYP26C1):c.529G>A (p.Gly177Arg)	CYP26C1, LOC130004371 (G177R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 731187	NM_183374.3(CYP26C1):c.533C>T (p.Pro178Leu)	CYP26C1, LOC130004371 (P178L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2402269	NM_183374.3(CYP26C1):c.547G>C (p.Asp183His)	CYP26C1, LOC130004371 (D183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079435	NM_183374.3(CYP26C1):c.550G>A (p.Ala184Thr)	CYP26C1, LOC130004371 (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361457	NM_183374.3(CYP26C1):c.572G>T (p.Arg191Leu)	CYP26C1, LOC130004371 (R191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242581	NM_183374.3(CYP26C1):c.632C>G (p.Ala211Gly)	CYP26C1, LOC130004371 (A211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375831	NM_183374.3(CYP26C1):c.685C>G (p.Pro229Ala)	CYP26C1, LOC130004371 (P229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773001	NM_183374.3(CYP26C1):c.713G>A (p.Arg238Gln)	CYP26C1 (R238Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2318380	NM_183374.3(CYP26C1):c.772G>T (p.Asp258Tyr)	CYP26C1 (D258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743448	NM_183374.3(CYP26C1):c.789G>A (p.Pro263=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 496732	NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)	CYP26C1 (Q284fs)	Duplication (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3025146	NM_183374.3(CYP26C1):c.862G>A (p.Glu288Lys)	CYP26C1 (E288K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769783	NM_183374.3(CYP26C1):c.867G>T (p.Ser289=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708687	NM_183374.3(CYP26C1):c.885C>T (p.Phe295=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2407843	NM_183374.3(CYP26C1):c.916A>G (p.Thr306Ala)	CYP26C1 (T306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761235	NM_183374.3(CYP26C1):c.931C>T (p.Leu311=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079426	NM_183374.3(CYP26C1):c.1027G>T (p.Gly343Trp)	CYP26C1 (G343W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270614	NM_183374.3(CYP26C1):c.1028G>A (p.Gly343Glu)	CYP26C1 (G343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364136	NM_183374.3(CYP26C1):c.1036G>A (p.Glu346Lys)	CYP26C1 (E346K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309342	NM_183374.3(CYP26C1):c.1042C>T (p.Pro348Ser)	CYP26C1 (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270525	NM_183374.3(CYP26C1):c.1099C>T (p.Arg367Cys)	CYP26C1 (R367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079428	NM_183374.3(CYP26C1):c.1126G>C (p.Val376Leu)	CYP26C1 (V376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065284	NM_183374.3(CYP26C1):c.1191+1G>A	CYP26C1	Single nucleotide variant (splice donor variant)	Focal facial dermal dysplasia type IV	GLikely pathogenic
Select item 2526461	NM_183374.3(CYP26C1):c.1192G>A (p.Gly398Ser)	CYP26C1 (G398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544281	NM_183374.3(CYP26C1):c.1215G>C (p.Trp405Cys)	CYP26C1 (W405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221928	NM_183374.3(CYP26C1):c.1243C>G (p.His415Asp)	CYP26C1 (H415D)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2302127	NM_183374.3(CYP26C1):c.1259T>C (p.Val420Ala)	CYP26C1 (V420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640681	NM_183374.3(CYP26C1):c.1260G>A (p.Val420=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348150	NM_183374.3(CYP26C1):c.1273C>T (p.Pro425Ser)	CYP26C1 (P425S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2471516	NM_183374.3(CYP26C1):c.1303G>T (p.Ala435Ser)	CYP26C1 (A435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547107	NM_183374.3(CYP26C1):c.1313A>G (p.Glu438Gly)	CYP26C1 (E438G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548322	NM_183374.3(CYP26C1):c.1367C>A (p.Ala456Glu)	CYP26C1 (A456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243638	NM_183374.3(CYP26C1):c.1378C>T (p.Leu460Phe)	CYP26C1 (L460F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079430	NM_183374.3(CYP26C1):c.1394C>T (p.Ala465Val)	CYP26C1 (A465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370749	NM_183374.3(CYP26C1):c.1400C>A (p.Ala467Asp)	CYP26C1 (A467D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784516	NM_183374.3(CYP26C1):c.1401C>G (p.Ala467=)	CYP26C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491922	NM_183374.3(CYP26C1):c.1426C>A (p.Leu476Ile)	CYP26C1 (L476I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079431	NM_183374.3(CYP26C1):c.1436C>G (p.Thr479Ser)	CYP26C1 (T479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222559	NM_183374.3(CYP26C1):c.1468C>A (p.Pro490Thr)	CYP26C1 (P490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216996	NM_183374.3(CYP26C1):c.1471G>A (p.Ala491Thr)	CYP26C1 (A491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034234	NM_183374.3(CYP26C1):c.1491C>T (p.Ile497=)	CYP26C1	Single nucleotide variant (synonymous variant)	CYP26C1-related disorder	GLikely benign
Select item 2209572	NM_183374.3(CYP26C1):c.1507G>A (p.Gly503Arg)	CYP26C1 (G503R)	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

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Items: 85