ClinVar for Gene (Select 56603) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370549	NM_019885.4(CYP26B1):c.1085T>C (p.Met362Thr)	CYP26B1 (M287T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270521	NM_019885.4(CYP26B1):c.147C>G (p.Ile49Met)	CYP26B1 (I49M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270520	NM_019885.4(CYP26B1):c.1021G>A (p.Gly341Ser)	CYP26B1 (G341S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270519	NM_019885.4(CYP26B1):c.319A>G (p.Met107Val)	CYP26B1 (M107V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270518	NM_019885.4(CYP26B1):c.1491G>C (p.Gln497His)	CYP26B1 (Q497H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270517	NM_019885.4(CYP26B1):c.1052T>C (p.Leu351Pro)	CYP26B1 (L276P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236381	NM_019885.4(CYP26B1):c.584G>A (p.Arg195Gln)	CYP26B1 (R120Q +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GUncertain significance
Select item 3079425	NM_019885.4(CYP26B1):c.824A>G (p.Lys275Arg)	CYP26B1 (K200R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079424	NM_019885.4(CYP26B1):c.595G>A (p.Gly199Ser)	CYP26B1 (G124S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079422	NM_019885.4(CYP26B1):c.233A>G (p.Glu78Gly)	CYP26B1 (E78G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079421	NM_019885.4(CYP26B1):c.224C>T (p.Ser75Leu)	CYP26B1 (S75L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079420	NM_019885.4(CYP26B1):c.1452T>G (p.Asp484Glu)	CYP26B1 (D484E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079418	NM_019885.4(CYP26B1):c.1364C>T (p.Ala455Val)	CYP26B1 (A455V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079417	NM_019885.4(CYP26B1):c.1258G>A (p.Ala420Thr)	CYP26B1 (A345T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079416	NM_019885.4(CYP26B1):c.122G>A (p.Arg41His)	CYP26B1 (R41H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3055157	NM_019885.4(CYP26B1):c.549G>C (p.Gln183His)	CYP26B1 (Q108H +1 more)	Single nucleotide variant (missense variant)	CYP26B1-related disorder	GUncertain significance
Select item 3053346	NM_019885.4(CYP26B1):c.204+7G>A	CYP26B1	Single nucleotide variant (intron variant)	CYP26B1-related disorder	GLikely benign
Select item 3021247	NM_019885.4(CYP26B1):c.1413C>G (p.Phe471Leu)	CYP26B1 (F471L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987942	NM_019885.4(CYP26B1):c.285C>A (p.Arg95=)	CYP26B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979690	NM_019885.4(CYP26B1):c.213C>A (p.Gly71=)	CYP26B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967246	NM_019885.4(CYP26B1):c.204+14C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962443	NM_019885.4(CYP26B1):c.460C>G (p.Leu154Val)	CYP26B1 (L154V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960669	NM_019885.4(CYP26B1):c.1261C>T (p.Arg421Trp)	CYP26B1 (R346W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913431	NM_019885.4(CYP26B1):c.1302C>T (p.Phe434=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909487	NM_019885.4(CYP26B1):c.1257G>A (p.Gln419=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909325	NM_019885.4(CYP26B1):c.1447G>A (p.Val483Met)	CYP26B1 (V408M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2905406	NM_019885.4(CYP26B1):c.866G>A (p.Gly289Glu)	CYP26B1 (G214E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901981	NM_019885.4(CYP26B1):c.1137C>T (p.Phe379=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858397	NM_019885.4(CYP26B1):c.951T>C (p.Thr317=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2776716	NM_019885.4(CYP26B1):c.1134C>G (p.Thr378=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727098	NM_019885.4(CYP26B1):c.1030C>T (p.Arg344Cys)	CYP26B1 (R269C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715657	NM_019885.4(CYP26B1):c.555G>A (p.Ala185=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2712166	NM_019885.4(CYP26B1):c.1236C>T (p.Phe412=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2681224	NM_019885.4(CYP26B1):c.1324C>T (p.Leu442=)	CYP26B1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2651025	NM_019885.4(CYP26B1):c.1005C>G (p.Gly335=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602694	NM_019885.4(CYP26B1):c.71T>C (p.Leu24Pro)	CYP26B1 (L24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541006	NM_019885.4(CYP26B1):c.1247G>A (p.Arg416His)	CYP26B1 (R341H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505921	NM_019885.4(CYP26B1):c.1443C>A (p.His481Gln)	CYP26B1 (H406Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481944	NM_019885.4(CYP26B1):c.1418G>A (p.Arg473His)	CYP26B1 (R473H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468058	NM_019885.4(CYP26B1):c.719G>A (p.Arg240Gln)	CYP26B1 (R165Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462786	NM_019885.4(CYP26B1):c.1357G>A (p.Val453Met)	CYP26B1 (V378M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461468	NM_019885.4(CYP26B1):c.557A>G (p.Gln186Arg)	CYP26B1 (Q111R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2407227	NM_019885.4(CYP26B1):c.1509G>T (p.Glu503Asp)	CYP26B1 (E503D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351912	NM_019885.4(CYP26B1):c.539A>G (p.Asn180Ser)	CYP26B1 (N180S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333403	NM_019885.4(CYP26B1):c.598T>C (p.Phe200Leu)	CYP26B1 (F200L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310068	NM_019885.4(CYP26B1):c.428A>G (p.Lys143Arg)	CYP26B1 (K143R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301887	NM_019885.4(CYP26B1):c.787T>C (p.Tyr263His)	CYP26B1 (Y263H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272230	NM_019885.4(CYP26B1):c.1273A>G (p.Lys425Glu)	CYP26B1 (K425E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249899	NM_019885.4(CYP26B1):c.1039A>G (p.Thr347Ala)	CYP26B1 (T272A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237954	NM_019885.4(CYP26B1):c.1418G>T (p.Arg473Leu)	CYP26B1 (R398L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209206	NM_019885.4(CYP26B1):c.1018G>A (p.Glu340Lys)	CYP26B1 (E340K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182315	NM_019885.4(CYP26B1):c.968G>A (p.Arg323Gln)	CYP26B1 (R248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180033	NM_019885.4(CYP26B1):c.541G>A (p.Val181Met)	CYP26B1 (V106M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177520	NM_019885.4(CYP26B1):c.186C>G (p.Thr62=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170822	NM_019885.4(CYP26B1):c.910G>A (p.Ala304Thr)	CYP26B1 (A304T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159760	NM_019885.4(CYP26B1):c.528C>T (p.Pro176=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151937	NM_019885.4(CYP26B1):c.704G>A (p.Arg235Gln)	CYP26B1 (R235Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098960	NM_019885.4(CYP26B1):c.1395G>A (p.Glu465=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083205	NM_019885.4(CYP26B1):c.967C>T (p.Arg323Trp)	CYP26B1 (R323W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2081069	NM_019885.4(CYP26B1):c.529G>A (p.Glu177Lys)	CYP26B1 (E177K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2061943	NM_019885.4(CYP26B1):c.420C>T (p.Asn140=)	CYP26B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2044141	NM_019885.4(CYP26B1):c.942G>A (p.Lys314=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2038910	NM_019885.4(CYP26B1):c.679G>A (p.Asp227Asn)	CYP26B1 (D152N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2037504	NM_019885.4(CYP26B1):c.454G>A (p.Glu152Lys)	CYP26B1 (E77K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1966875	NM_019885.4(CYP26B1):c.806T>A (p.Leu269His)	CYP26B1 (L269H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809805	NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)	CYP26B1 (S29*)	Single nucleotide variant (nonsense)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GLikely pathogenic
Select item 1807666	GRCh37/hg19 2p13.2(chr2:72286238-72717551)x3	CYP26B1, EXOC6B	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1700309	NM_019885.4(CYP26B1):c.628C>G (p.Leu210Val)	CYP26B1 (L135V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697066	NM_019885.4(CYP26B1):c.1040C>T (p.Thr347Met)	CYP26B1 (T272M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1631581	NM_019885.4(CYP26B1):c.1147-12A>G	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545097	NM_019885.4(CYP26B1):c.990C>T (p.Gly330=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449456	NM_019885.4(CYP26B1):c.547C>G (p.Gln183Glu)	CYP26B1 (Q183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409351	NM_019885.4(CYP26B1):c.1231G>A (p.Val411Met)	CYP26B1 (V411M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1380344	NM_019885.4(CYP26B1):c.1208C>T (p.Ala403Val)	CYP26B1 (A403V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374227	NM_019885.4(CYP26B1):c.1528G>A (p.Ala510Thr)	CYP26B1 (A510T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1358857	NM_019885.4(CYP26B1):c.1435G>A (p.Val479Ile)	CYP26B1 (V479I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319707	NM_019885.4(CYP26B1):c.321G>A (p.Met107Ile)	CYP26B1 (M107I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310354	NM_019885.4(CYP26B1):c.344C>T (p.Thr115Ile)	CYP26B1 (T115I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1305469	NM_019885.4(CYP26B1):c.1505C>T (p.Pro502Leu)	CYP26B1 (P427L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1301105	NM_019885.4(CYP26B1):c.862-184C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298811	NM_019885.4(CYP26B1):c.1414C>T (p.Pro472Ser)	CYP26B1 (P397S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1288765	NM_019885.4(CYP26B1):c.861+25G>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270484	NM_019885.4(CYP26B1):c.205-233C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266263	NM_019885.4(CYP26B1):c.1377T>C (p.Ala459=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1254789	NM_019885.4(CYP26B1):c.1147-119G>A	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254530	NM_019885.4(CYP26B1):c.862-105G>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251567	NM_019885.4(CYP26B1):c.186C>A (p.Thr62=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235982	NM_019885.4(CYP26B1):c.*44T>C	CYP26B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1219531	NM_019885.4(CYP26B1):c.205-330G>C	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213242	NM_019885.4(CYP26B1):c.861+217dup	CYP26B1	Duplication (intron variant)	not provided	GLikely benign
Select item 1211017	NM_019885.4(CYP26B1):c.861+191C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209010	NM_019885.4(CYP26B1):c.430-187C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207606	NM_019885.4(CYP26B1):c.115G>A (p.Ala39Thr)	CYP26B1 (A39T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1204411	NM_019885.4(CYP26B1):c.1147-20C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign

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