Related gene-specific medical variations for Gene (Select 215) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243803	NC_000023.10:g.(?_153006133)_(153007471_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243792	NC_000023.10:g.(?_152994830)_(153000530_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243781	NC_000023.10:g.(?_152991389)_(152991912_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243770	NC_000023.10:g.(?_153005526)_(153009189_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243759	NC_000023.10:g.(?_152994667)_(152994887_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3240119	NM_000033.4(ABCD1):c.413_416dup (p.Ile140fs)	ABCD1 (I140fs)	Duplication (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3240094	NM_000033.4(ABCD1):c.686T>C (p.Leu229Pro)	ABCD1 (L229P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic
Select item 3068243	NM_000033.4(ABCD1):c.926C>T (p.Ser309Phe)	ABCD1 (S309F)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3068231	NM_000033.4(ABCD1):c.1866-2A>T	ABCD1	Single nucleotide variant (splice acceptor variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3068082	NM_000033.4(ABCD1):c.1774G>A (p.Glu592Lys)	ABCD1 (E592K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3068003	NM_000033.4(ABCD1):c.1850G>T (p.Arg617Leu)	ABCD1 (R617L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2690814	NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)	ABCD1 (R191C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690813	NM_000033.4(ABCD1):c.925T>C (p.Ser309Pro)	ABCD1 (S309P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690812	NM_000033.4(ABCD1):c.335C>T (p.Ala112Val)	ABCD1 (A112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690811	NM_000033.4(ABCD1):c.1747G>C (p.Val583Leu)	ABCD1 (V583L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690808	NM_000033.4(ABCD1):c.763G>A (p.Ala255Thr)	ABCD1 (A255T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690806	NM_000033.4(ABCD1):c.110G>C (p.Arg37Pro)	ABCD1 (R37P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690502	NM_000033.4(ABCD1):c.830G>A (p.Gly277Glu)	ABCD1 (G277E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2690501	NM_000033.4(ABCD1):c.1781-1G>T	ABCD1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2686053	NM_000033.4(ABCD1):c.1233G>C (p.Glu411Asp)	ABCD1 (E411D)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2686052	NM_000033.4(ABCD1):c.1454C>A (p.Ser485Ter)	ABCD1 (S485*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GPathogenic
Select item 2679382	NM_000033.4(ABCD1):c.1382del (p.Leu461fs)	ABCD1 (L461fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
Select item 2679342	NM_000033.4(ABCD1):c.729del (p.Ser244fs)	ABCD1 (S244fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 2679211	NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)	ABCD1 (T526fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 2679143	NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)	ABCD1 (E694*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GLikely pathogenic
Select item 2582546	NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)	ABCD1 (I643N)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2438893	NM_000033.4(ABCD1):c.763dup (p.Ala255fs)	ABCD1 (A255fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2438795	NM_000033.4(ABCD1):c.1835del (p.Arg612fs)	ABCD1 (R612fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2438770	NM_000033.4(ABCD1):c.1932C>A (p.Phe644Leu)	ABCD1 (F644L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438768	NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)	ABCD1 (T254K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438767	NM_000033.4(ABCD1):c.630C>G (p.His210Gln)	ABCD1 (H210Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438766	NM_000033.4(ABCD1):c.1583GTG[1] (p.Gly529del)	ABCD1 (G529del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2438765	NM_000033.4(ABCD1):c.1927A>T (p.Ile643Phe)	ABCD1 (I643F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438763	NM_000033.4(ABCD1):c.616G>C (p.Ala206Pro)	ABCD1 (A206P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438761	NM_000033.4(ABCD1):c.2011C>A (p.Leu671Ile)	ABCD1 (L671I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438759	NM_000033.4(ABCD1):c.2029G>A (p.Gly677Ser)	ABCD1 (G677S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438758	NM_000033.4(ABCD1):c.977_985del (p.Trp326_Met329delinsLeu)	ABCD1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2438757	NM_000033.4(ABCD1):c.1136G>A (p.Ser379Asn)	ABCD1 (S379N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438755	NM_000033.4(ABCD1):c.1928T>C (p.Ile643Thr)	ABCD1 (I643T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438754	NM_000033.4(ABCD1):c.615_617dup (p.Ala206_Ser207insAla)	ABCD1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2438753	NM_000033.4(ABCD1):c.880G>C (p.Ala294Pro)	ABCD1 (A294P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438752	NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)	ABCD1 (G465S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438751	NM_000033.4(ABCD1):c.236T>C (p.Leu79Pro)	ABCD1 (L79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438750	NM_000033.4(ABCD1):c.88C>G (p.His30Asp)	ABCD1 (H30D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438749	NM_000033.4(ABCD1):c.1850G>C (p.Arg617Pro)	ABCD1 (R617P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438748	NM_000033.4(ABCD1):c.857T>G (p.Val286Gly)	ABCD1 (V286G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438745	NM_000033.4(ABCD1):c.1007A>G (p.Lys336Arg)	ABCD1 (K336R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438062	NM_000033.4(ABCD1):c.724_731del (p.Trp242fs)	ABCD1 (W242fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436863	NM_000033.4(ABCD1):c.1224+1G>T	ABCD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2435953	NM_000033.4(ABCD1):c.1600C>A (p.Pro534Thr)	ABCD1 (P534T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2434799	NM_000033.4(ABCD1):c.678del (p.Tyr227fs)	ABCD1 (Y227fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807277	NM_000033.4(ABCD1):c.1807del (p.Asp603fs)	ABCD1 (D603fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1330835	NM_000033.4(ABCD1):c.1883T>C (p.Leu628Pro)	ABCD1 (L628P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1323836	NM_000033.4(ABCD1):c.121del (p.Ala41fs)	ABCD1 (A41fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322512	NM_000033.4(ABCD1):c.425_426del (p.Leu142fs)	ABCD1 (L142fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1322475	NM_000033.4(ABCD1):c.1966_1967dup (p.Ile657fs)	ABCD1 (I657fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1322441	NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter)	ABCD1 (E90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1322433	NM_000033.4(ABCD1):c.799del (p.Glu267fs)	ABCD1 (E267fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1322407	NM_000033.4(ABCD1):c.9_13del (p.Leu4fs)	ABCD1 (L4fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1256208	NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del)	ABCD1 (I657del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1256115	NM_000033.4(ABCD1):c.1224G>C (p.Glu408Asp)	ABCD1 (E408D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256096	NM_000033.4(ABCD1):c.1082-23C>G	ABCD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1067077	NC_000023.10:g.(?_153002694)_153020558del	ABCD1	Deletion	Adrenoleukodystrophy	GLikely pathogenic
Select item 996794	NM_000033.4(ABCD1):c.104del (p.Leu35fs)	ABCD1 (L35fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 996792	NM_000033.4(ABCD1):c.1849C>G (p.Arg617Gly)	ABCD1 (R617G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 991381	NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg)	ABCD1 (K569R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 987508	NM_000033.4(ABCD1):c.1670T>G (p.Val557Gly)	ABCD1 (V557G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 987340	NM_000033.4(ABCD1):c.1045del (p.Val349fs)	ABCD1 (V349fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987068	NM_000033.4(ABCD1):c.1667A>T (p.Gln556Leu)	ABCD1 (Q556L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 931943	NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr)	ABCD1 (A341T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 930240	NM_000033.4(ABCD1):c.900+2T>G	ABCD1	Single nucleotide variant (splice donor variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 812022	NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del)	ABCD1 (V490del)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 811278	NM_000033.4(ABCD1):c.1082-33C>A	ABCD1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 617947	NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs)	ABCD1 (Y541fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 368040	NM_000033.4(ABCD1):c.-342G>A	LOC130068831, ABCD1	Single nucleotide variant (5 prime UTR variant)	Adrenoleukodystrophy	GUncertain significance

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Links from Gene

Items: 75