"Genome-Nilou Lab"[submitter] AND "ABCD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368042	NM_000033.4(ABCD1):c.-59C>T	ABCD1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 368044	NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)	ABCD1 (N13T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +3 more	GBenign/Likely benign
Select item 434063	NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)	ABCD1 (T14A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 458643	NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	ABCD1 (T14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 583372	NM_000033.4(ABCD1):c.50G>A (p.Arg17His)	ABCD1 (R17H)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 444828	NM_000033.4(ABCD1):c.54G>A (p.Thr18=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 588144	NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)	ABCD1 (A61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 872506	NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)	ABCD1 (V70L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 575618	NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)	ABCD1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 166623	NM_000033.4(ABCD1):c.249C>T (p.Phe83=)	ABCD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368045	NM_000033.4(ABCD1):c.258C>T (p.Val86=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +3 more	GBenign/Likely benign
Select item 385091	NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)	ABCD1 (G92R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GUncertain significance
Select item 1210347	NM_000033.4(ABCD1):c.304G>A (p.Val102Met)	ABCD1 (V102M)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 458642	NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	ABCD1 (R104H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1210346	NM_000033.4(ABCD1):c.338G>A (p.Arg113His)	ABCD1 (R113H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 383794	NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)	ABCD1 (G131V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 444829	NM_000033.4(ABCD1):c.420C>A (p.Ile140=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 35642	NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	ABCD1 (A141T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 569297	NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)	ABCD1 (I151T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 577418	NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	ABCD1 (R152C)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 458645	NM_000033.4(ABCD1):c.471A>G (p.Gln157=)	ABCD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 912520	NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)	ABCD1 (R165C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92327	NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	ABCD1 (V167fs)	Deletion (frameshift variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 644432	NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)	ABCD1 (A170T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 689462	NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)	ABCD1 (Y174S)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic/Likely pathogenic
Select item 458646	NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	ABCD1 (Y174C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 617946	NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)	ABCD1 (F175Y)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 369726	NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)	ABCD1 (Q177*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 430349	NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	ABCD1 (R189W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 623114	NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	ABCD1 (T198M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 585357	NM_000033.4(ABCD1):c.601G>A (p.Val201Met)	ABCD1 (V201M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 92328	NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)	ABCD1 (A205E)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 585358	NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)	ABCD1 (P218L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 995582	NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)	ABCD1 (L229V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 368046	NM_000033.4(ABCD1):c.696G>T (p.Ala232=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +3 more	GBenign/Likely benign
Select item 547101	NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu)	ABCD1 (R234L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GUncertain significance
Select item 193034	NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	ABCD1 (R236H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 528342	NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	ABCD1 (A247T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 562209	NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)	ABCD1 (F252L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 377034	NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	ABCD1 (L253V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 430026	NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	ABCD1 (T254M)	Single nucleotide variant (missense variant)	ABCD1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 913629	NM_000033.4(ABCD1):c.768C>T (p.Asn256=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GBenign
Select item 11299	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	ABCD1 (G266R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1210345	NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)	ABCD1 (R274Q)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 384589	NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)	ABCD1 (R275W)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 35643	NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	ABCD1 (R280C)	Single nucleotide variant (missense variant)	ABCD1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 953948	NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	ABCD1 (R280H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 870554	NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)	ABCD1 (R280P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 523894	NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)	ABCD1 (Y281*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 430421	NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)	ABCD1 (A294T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 193033	NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	ABCD1 (Y296C)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 665751	NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)	ABCD1 (G298S)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic/Likely pathogenic
Select item 92329	NM_000033.4(ABCD1):c.901-16C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy +1 more	GBenign/Likely benign
Select item 291177	NM_000033.4(ABCD1):c.901-10C>T	ABCD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 704562	NM_000033.4(ABCD1):c.901-5C>T	ABCD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 705934	NM_000033.4(ABCD1):c.945G>A (p.Ser315=)	ABCD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 528348	NM_000033.4(ABCD1):c.1047C>A (p.Val349=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +2 more	GBenign/Likely benign
Select item 913632	NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 585300	NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)	ABCD1 (K366*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GPathogenic
Select item 426188	NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)	ABCD1 (R381C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 623115	NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)	ABCD1 (R389C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 281336	NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	ABCD1 (R389H)	Single nucleotide variant (missense variant)	ABCD1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 838304	NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	ABCD1 (L391P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic/Likely pathogenic
Select item 446779	NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro)	ABCD1 (A395P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 488393	NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	ABCD1 (R401W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11300	NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	ABCD1 (R401Q)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic
Select item 368047	NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GBenign/Likely benign
Select item 585353	NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)	ABCD1 (A413P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 11301	NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	ABCD1 (R418W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 197096	NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	ABCD1 (Q430*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 368048	NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)	ABCD1 (R452W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 817611	NM_000033.4(ABCD1):c.1359del (p.Gly454fs)	ABCD1 (G454fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 11302	NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	ABCD1 (R464*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 439350	NM_000033.4(ABCD1):c.1393+31C>T	ABCD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 92314	NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)	ABCD1 (Q466*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 11303	NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	ABCD1 (Q472fs)	Deletion (frameshift variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 439349	NM_000033.4(ABCD1):c.1440del (p.Ile481fs)	ABCD1 (I481fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 585354	NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)	ABCD1 (T483M)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 522985	NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 588489	NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +2 more	GBenign/Likely benign
Select item 496873	NM_000033.4(ABCD1):c.1489-24C>G	ABCD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92315	NM_000033.4(ABCD1):c.1489-6del	ABCD1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 585301	NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	ABCD1 (G512S)	Single nucleotide variant (missense variant)	ABCD1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 92316	NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)	ABCD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 11307	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1 (R518W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92317	NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	ABCD1 (R518Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 947594	NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)	ABCD1 (L523P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 391913	NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)	ABCD1 (G528S)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 623117	NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	ABCD1 (K533Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 840988	NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)	ABCD1 (M539V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 528341	NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	ABCD1 (P543L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 664215	NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)	ABCD1 (P546L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 166625	NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)	ABCD1 (R554H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 92320	NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	ABCD1 (P560L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic
Select item 218420	NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)	ABCD1 (V582I)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 218421	NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)	ABCD1 (V583E)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GBenign/Likely benign
Select item 570758	NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)	ABCD1 (I588N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92321	NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	ABCD1 (R591W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 458635	NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	ABCD1 (R591Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 35639	NM_000033.4(ABCD1):c.1780+4G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity

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