20581[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 1235982	NM_019885.4(CYP26B1):c.*44T>C	CYP26B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 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 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 775731	NM_019885.4(CYP26B1):c.1495G>A (p.Glu499Lys)	CYP26B1 (E424K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 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 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 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 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 1201778	NM_019885.4(CYP26B1):c.1417C>A (p.Arg473Ser)	CYP26B1 (R398S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 790505	NM_019885.4(CYP26B1):c.1417C>T (p.Arg473Cys)	CYP26B1 (R398C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 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 2098960	NM_019885.4(CYP26B1):c.1395G>A (p.Glu465=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1266263	NM_019885.4(CYP26B1):c.1377T>C (p.Ala459=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 997465	NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr)	CYP26B1 (H370Y +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GUncertain significance
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 2913431	NM_019885.4(CYP26B1):c.1302C>T (p.Phe434=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750758	NM_019885.4(CYP26B1):c.1290T>C (p.His430=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 445321	NM_019885.4(CYP26B1):c.1259C>G (p.Ala420Gly)	CYP26B1 (A420G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 2909487	NM_019885.4(CYP26B1):c.1257G>A (p.Gln419=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2712166	NM_019885.4(CYP26B1):c.1236C>T (p.Phe412=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 432606	NM_019885.4(CYP26B1):c.1190G>A (p.Arg397Gln)	CYP26B1 (R397Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 691569	NM_019885.4(CYP26B1):c.1179G>T (p.Met393Ile)	CYP26B1 (M318I +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	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 1204411	NM_019885.4(CYP26B1):c.1147-20C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1254789	NM_019885.4(CYP26B1):c.1147-119G>A	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715945	NM_019885.4(CYP26B1):c.1138G>A (p.Glu380Lys)	CYP26B1 (E305K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2901981	NM_019885.4(CYP26B1):c.1137C>T (p.Phe379=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776716	NM_019885.4(CYP26B1):c.1134C>G (p.Thr378=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734053	NM_019885.4(CYP26B1):c.1110C>T (p.Gly370=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747583	NM_019885.4(CYP26B1):c.1098G>A (p.Thr366=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 432607	NM_019885.4(CYP26B1):c.1088G>A (p.Arg363His)	CYP26B1 (R363H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30447	NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu)	CYP26B1 (R363L +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GPathogenic
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 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 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 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 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 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 729011	NM_019885.4(CYP26B1):c.1017C>T (p.Cys339=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	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 788510	NM_019885.4(CYP26B1):c.1005C>T (p.Gly335=)	CYP26B1	Single nucleotide variant (synonymous 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 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 2083205	NM_019885.4(CYP26B1):c.967C>T (p.Arg323Trp)	CYP26B1 (R323W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2858397	NM_019885.4(CYP26B1):c.951T>C (p.Thr317=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2044141	NM_019885.4(CYP26B1):c.942G>A (p.Lys314=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 731488	NM_019885.4(CYP26B1):c.909C>T (p.Ser303=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746856	NM_019885.4(CYP26B1):c.903G>A (p.Thr301=)	CYP26B1	Single nucleotide variant (synonymous 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 712504	NM_019885.4(CYP26B1):c.862-5T>G	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 1301105	NM_019885.4(CYP26B1):c.862-184C>T	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 1288765	NM_019885.4(CYP26B1):c.861+25G>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712426	NM_019885.4(CYP26B1):c.831C>T (p.His277=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1180923	NM_019885.4(CYP26B1):c.791T>C (p.Leu264Ser)	CYP26B1 (L189S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 783332	NM_019885.4(CYP26B1):c.705+7A>G	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely 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 1194876	NM_019885.4(CYP26B1):c.687C>T (p.Pro229=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 796611	NM_019885.4(CYP26B1):c.678C>T (p.Val226=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 719382	NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)	CYP26B1 (R191H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2715657	NM_019885.4(CYP26B1):c.555G>A (p.Ala185=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 740178	NM_019885.4(CYP26B1):c.540C>T (p.Asn180=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2159760	NM_019885.4(CYP26B1):c.528C>T (p.Pro176=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733019	NM_019885.4(CYP26B1):c.504A>G (p.Thr168=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2037504	NM_019885.4(CYP26B1):c.454G>A (p.Glu152Lys)	CYP26B1 (E77K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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