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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Adrenal Insufficiency (D000309)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Peroxisomal Disorders (D018901)
..Starting node ..Adrenoleukodystrophy (D000326)
Child Nodes:
........Melanodermic leukodystrophy (C538676)
........Peroxisomal ACYL-COA oxidase deficiency (C536662)
........PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
........Wells Jankovic syndrome (C536692)
Sister Nodes:
..Acatalasia (D020642)
..Adrenoleukodystrophy (D000326) 4
..Bile acid synthesis defect, congenital, 4 (C535444)
..Chondrodysplasia Punctata, Rhizomelic (D018902) 3
..Mevalonate Kinase Deficiency (D054078)
..Peroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..Peroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..Peroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..Peroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..Peroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..Peroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..Peroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..Peroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..Peroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..Peroxisome Biogenesis Disorder, Complementation Group D (C566388)
..Peroxisome Biogenesis Disorder, Complementation Group E (C566569)
..Peroxisome Biogenesis Disorder, Complementation Group G (C566406)
..Peroxisome Biogenesis Disorder, Complementation Group H (C566626)
..Peroxisome Biogenesis Disorder, Complementation Group J (C563965)
..Peroxisome Biogenesis Disorder, Complementation Group K (C566624)
..Peroxisome Biogenesis Disorder, Complementation Group R (C566635)
..Peroxisome biogenesis disorders (C536664)
..Refsum Disease (D012035) 4
..Refsum Disease, Infantile (D052919)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

335

Name:

Adrenoleukodystrophy

Definition:

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Alternative IDs:

OMIM:300100

ParentIDs:

MESH:D000309|MESH:D018901|MESH:D020279|MESH:D038901

TreeNumbers:

C10.228.140.163.100.362.250 |C10.228.140.163.100.680.100 |C10.228.140.695.625.250 |C10.314.400.250 |C10.597.606.643.455.124 |C16.320.322.500.124 |C16.320.400.525.124 |C16.320.565.189.362.250 |C16.320.565.189.680.100 |C16.320.565.663.112 |C18.452.132.100.362.250 |C1

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D000326
MeSH: D000326
OMIM: 300100;

Genes: ABCD1;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0002500	Abnormal cerebral white matter morphology
4	HP:0000924	Abnormality of the skeletal system
5	HP:0007018	Attention deficit hyperactivity disorder
6	HP:0000618	Blindness
7	HP:0002607	Bowel incontinence
8	HP:0001283	Bulbar palsy
9	HP:0000726	Dementia
10	HP:0003455	Elevated circulating long chain fatty acid concentration
11	HP:0000365	Hearing impairment
12	HP:0000953	Hyperpigmentation of the skin
13	HP:0000135	Hypogonadism
14	HP:0000802	Impotence
15	HP:0002311	Incoordination
16	HP:0002070	Limb ataxia
17	HP:0002371	Loss of speech
18	HP:0002180	Neurodegeneration
19	HP:0002385	Paraparesis
20	HP:0001271	Polyneuropathy
21	HP:0008207	Primary adrenal insufficiency
22	HP:0003676	Progressive
23	HP:0000709	Psychosis
24	HP:0001250	Seizure
25	HP:0001350	Slurred speech
26	HP:0001258	Spastic paraplegia
27	HP:0002078	Truncal ataxia
28	HP:0002839	Urinary bladder sphincter dysfunction
29	HP:0000020	Urinary incontinence
30	HP:0000572	Visual loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000033.3(ABCD1):c.-18_8del26 (p.Met1_Gly66del)	215	ABCD1	Pathogenic	387906497	RCV000012069;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152990704	152990729	NM_000033.3:c.-18_8del26	NP_000024.2:p.Met1_Gly66del	NC_000023.10:g.152990704_152990729del26	OMIM Allelic Variant:300371.0026	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.31_46del16 (p.Arg11Serfs)	215	ABCD1	Pathogenic	398123109	RCV000077962;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152990752	152990767	NM_000033.3:c.31_46del16	NP_000024.2:p.Arg11Serfs	NC_000023.10:g.152990752_152990767del16	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.253dupC (p.Arg85Profs)	215	ABCD1	Pathogenic	713993050	RCV000149556;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152990974	152990974	NM_000033.3:c.253dupC	NP_000024.2:p.Arg85Profs	NC_000023.10:g.152990974dupC	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.346G>A (p.Gly116Arg)	215	ABCD1	Pathogenic	398123110	RCV000077963;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991067	152991067	NM_000033.3:c.346G>A	NP_000024.2:p.Gly116Arg	NC_000023.10:g.152991067G>A	HGMD:CM960028	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.406C>T (p.Gln136Ter)	215	ABCD1	Pathogenic	398123111	RCV000077964;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991127	152991127	NM_000033.3:c.406C>T	NP_000024.2:p.Gln136Ter	NC_000023.10:g.152991127C>T	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr)	215	ABCD1	Pathogenic	193922097	RCV000029289;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991142	152991142	NM_000033.3:c.421G>A	NP_000024.2:p.Ala141Thr	NC_000023.10:g.152991142G>A	HGMD:CM950030	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser)	215	ABCD1	Pathogenic	128624216	RCV000012049;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991164	152991164	NM_000033.3:c.443A>G	NP_000024.2:p.Asn148Ser	NC_000023.10:g.152991164A>G	OMIM Allelic Variant:300371.0006	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.498_520del23 (p.Val167Leufs)	215	ABCD1	Pathogenic	398123112	RCV000077966;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991219	152991241	NM_000033.3:c.498_520del23	NP_000024.2:p.Val167Leufs	NC_000023.10:g.152991219_152991241del23	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.520T>G (p.Tyr174Asp)	215	ABCD1	Pathogenic	128624217	RCV000012050;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991241	152991241	NM_000033.3:c.520T>G	NP_000024.2:p.Tyr174Asp	NC_000023.10:g.152991241T>G	OMIM Allelic Variant:300371.0007	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.614C>A (p.Ala205Glu)	215	ABCD1	Likely pathogenic	398123113	RCV000077967;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991335	152991335	NM_000033.3:c.614C>A	NP_000024.2:p.Ala205Glu	NC_000023.10:g.152991335C>A	HGMD:CM105367	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.651G>C (p.Lys217Asn)	215	ABCD1	Likely pathogenic	864309520	RCV000202647;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991372	152991372	NM_000033.3:c.651G>C	NP_000024.2:p.Lys217Asn	NC_000023.10:g.152991372G>C	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg)	215	ABCD1	Pathogenic	128624218	RCV000012051;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991517	152991517	NM_000033.3:c.796G>A	NP_000024.2:p.Gly266Arg	NC_000023.10:g.152991517G>A	OMIM Allelic Variant:300371.0008	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys)	215	ABCD1	Likely pathogenic	193922098	RCV000029290;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991559	152991559	NM_000033.3:c.838C>T	NP_000024.2:p.Arg280Cys	NC_000023.10:g.152991559C>T	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys)	215	ABCD1	Pathogenic	128624213	RCV000012044;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991592	152991592	NM_000033.3:c.871G>A	NP_000024.2:p.Glu291Lys	NC_000023.10:g.152991592G>A	OMIM Allelic Variant:300371.0001	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.871_873delGAG (p.Glu292del)	215	ABCD1	Pathogenic	387906496	RCV000012066;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991592	152991594	NM_000033.3:c.871_873delGAG	NP_000024.2:p.Glu292del	NC_000023.10:g.152991592_152991594delGAG	OMIM Allelic Variant:300371.0023	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.886T>C (p.Tyr296His)	215	ABCD1	Likely pathogenic	797044611	RCV000173053;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991607	152991607	NM_000033.3:c.886T>C	NP_000024.2:p.Tyr296His	NC_000023.10:g.152991607T>C	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys)	215	ABCD1	Pathogenic	797044610	RCV000173051;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	152991608	152991608	NM_000033.3:c.887A>G	NP_000024.2:p.Tyr296Cys	NC_000023.10:g.152991608A>G	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1165C>G (p.Arg389Gly)	215	ABCD1	Pathogenic	128624215	RCV000012048;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001649	153001649	NM_000033.3:c.1165C>G	NP_000024.2:p.Arg389Gly	NC_000023.10:g.153001649C>G	OMIM Allelic Variant:300371.0005	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1201C>G (p.Arg401Gly)	215	ABCD1	Likely pathogenic	727503786	RCV000152719;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001685	153001685	NM_000033.3:c.1201C>G	NP_000024.2:p.Arg401Gly	NC_000023.10:g.153001685C>G	HGMD:CM122938	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln)	215	ABCD1	Pathogenic	128624219	RCV000012052;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001686	153001686	NM_000033.3:c.1202G>A	NP_000024.2:p.Arg401Gln	NC_000023.10:g.153001686G>A	OMIM Allelic Variant:300371.0009	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp)	215	ABCD1	Pathogenic	128624220	RCV000012053;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001826	153001826	NM_000033.3:c.1252C>T	NP_000024.2:p.Arg418Trp	NC_000023.10:g.153001826C>T	OMIM Allelic Variant:300371.0010	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1288C>T (p.Gln430Ter)	215	ABCD1	Pathogenic	797044726	RCV000178024;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001862	153001862	NM_000033.3:c.1288C>T	NP_000024.2:p.Gln430Ter	NC_000023.10:g.153001862C>T	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs)	215	ABCD1	Likely pathogenic	193922093	RCV000029284;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001940	153001940	NM_000033.3:c.1366dupC	NP_000024.2:p.Arg456Profs	NC_000023.10:g.153001940dupC	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter)	215	ABCD1	Pathogenic	128624221	RCV000012054;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153001964	153001964	NM_000033.3:c.1390C>T	NP_000024.2:p.Arg464Ter	NC_000023.10:g.153001964C>T	OMIM Allelic Variant:300371.0011	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1396C>T (p.Gln466Ter)	215	ABCD1	Pathogenic	398123100	RCV000077950;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153002613	153002613	NM_000033.3:c.1396C>T	NP_000024.2:p.Gln466Ter	NC_000023.10:g.153002613C>T	HGMD:CM950048	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs)	215	ABCD1	Pathogenic	387906494	RCV000012055;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153002632	153002633	NM_000033.3:c.1415_1416delAG	NP_000024.2:p.Gln472Argfs	NC_000023.10:g.153002632_153002633delAG	HGMD:CD941566,OMIM Allelic Variant:300371.0012	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1429G>T (p.Glu477Ter)	215	ABCD1	Pathogenic	128624222	RCV000012056;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153002646	153002646	NM_000033.3:c.1429G>T	NP_000024.2:p.Glu477Ter	NC_000023.10:g.153002646G>T	OMIM Allelic Variant:300371.0013	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1451C>G (p.Pro484Arg)	215	ABCD1	Pathogenic	128624214	RCV000012045;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153002668	153002668	NM_000033.3:c.1451C>G	NP_000024.2:p.Pro484Arg	NC_000023.10:g.153002668C>G	OMIM Allelic Variant:300371.0002	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe)	215	ABCD1	Pathogenic	128624223	RCV000012057;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153005601	153005601	NM_000033.3:c.1544C>T	NP_000024.2:p.Ser515Phe	NC_000023.10:g.153005601C>T	OMIM Allelic Variant:300371.0014	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1552delC (p.Arg518Glyfs)	215	ABCD1	Pathogenic	387906495	RCV000012058;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153005609	153005609	NM_000033.3:c.1552delC	NP_000024.2:p.Arg518Glyfs	NC_000023.10:g.153005609delC	OMIM Allelic Variant:300371.0015	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp)	215	ABCD1	Pathogenic	128624224	RCV000012059;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153005609	153005609	NM_000033.3:c.1552C>T	NP_000024.2:p.Arg518Trp	NC_000023.10:g.153005609C>T	HGMD:CM940037,OMIM Allelic Variant:300371.0016	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1553G>A (p.Arg518Gln)	215	ABCD1	Pathogenic	398123102	RCV000077955;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153005610	153005610	NM_000033.3:c.1553G>A	NP_000024.2:p.Arg518Gln	NC_000023.10:g.153005610G>A	HGMD:CM940036	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1586G>A (p.Gly529Asp)	215	ABCD1	Likely pathogenic	398123103	RCV000077956;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153005643	153005643	NM_000033.3:c.1586G>A	NP_000024.2:p.Gly529Asp	NC_000023.10:g.153005643G>A	HGMD:CM107839	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro)	215	ABCD1	Likely pathogenic	193922094	RCV000029285;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153005649	153005649	NM_000033.3:c.1592T>C	NP_000024.2:p.Leu531Pro	NC_000023.10:g.153005649T>C	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1660C>A (p.Arg554Ser)	215	ABCD1	Likely pathogenic	398123104	RCV000077957;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153006053	153006053	NM_000033.3:c.1660C>A	NP_000024.2:p.Arg554Ser	NC_000023.10:g.153006053C>A	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1661G>A (p.Arg554His)	215	ABCD1	Pathogenic	201568579	RCV000152720;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153006054	153006054	NM_000033.3:c.1661G>A	NP_000024.2:p.Arg554His	NC_000023.10:g.153006054G>A	HGMD:CM000643	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1679C>T (p.Pro560Leu)	215	ABCD1	Pathogenic	398123105	RCV000077958;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153006072	153006072	NM_000033.3:c.1679C>T	NP_000024.2:p.Pro560Leu	NC_000023.10:g.153006072C>T	HGMD:CM950052	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1771C>T (p.Arg591Trp)	215	ABCD1	Pathogenic	398123106	RCV000077959;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153006164	153006164	NM_000033.3:c.1771C>T	NP_000024.2:p.Arg591Trp	NC_000023.10:g.153006164C>T	HGMD:CM993108	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1780+4G>A	215	ABCD1	Uncertain significance	193922095	RCV000029286;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153006177	153006177	NM_000033.3:c.1780+4G>A		NC_000023.10:g.153006177G>A	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1781-1G>A	215	ABCD1	Pathogenic	797044781	RCV000180095;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008440	153008440	NM_000033.3:c.1781-1G>A		NC_000023.10:g.153008440G>A	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1802G>A (p.Trp601Ter)	215	ABCD1	Pathogenic	398123107	RCV000077960;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008462	153008462	NM_000033.3:c.1802G>A	NP_000024.2:p.Trp601Ter	NC_000023.10:g.153008462G>A	HGMD:CM983813	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1817C>T (p.Ser606Leu)	215	ABCD1	Pathogenic	128624225	RCV000180094; RCV000012062;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002; MedGen:C1868690,OMIM:240200	X	153008477	153008477	NM_000033.3:c.1817C>T	NP_000024.2:p.Ser606Leu	NC_000023.10:g.153008477C>T	OMIM Allelic Variant:300371.0019	C1868690 240200 Addison's disease; C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1825G>A (p.Glu609Lys)	215	ABCD1	Pathogenic	150346282	RCV000152721;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008485	153008485	NM_000033.3:c.1825G>A	NP_000024.2:p.Glu609Lys	NC_000023.10:g.153008485G>A	HGMD:CM950056	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys)	215	ABCD1	Pathogenic	4010613	RCV000012065;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008509	153008509	NM_000033.3:c.1849C>T	NP_000024.2:p.Arg617Cys	NC_000023.10:g.153008509C>T	OMIM Allelic Variant:300371.0022	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1850G>A (p.Arg617His)	215	ABCD1	Pathogenic	11146842	RCV000012064;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008510	153008510	NM_000033.3:c.1850G>A	NP_000024.2:p.Arg617His	NC_000023.10:g.153008510G>A	HGMD:CM940040,OMIM Allelic Variant:300371.0021	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1866-10G>A	215	ABCD1	Pathogenic	398123108	RCV000077961;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008665	153008665	NM_000033.3:c.1866-10G>A		NC_000023.10:g.153008665G>A	HGMD:CS951342	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.1992-2A>G	215	ABCD1	Pathogenic	797044626	RCV000173621;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008941	153008941	NM_000033.3:c.1992-2A>G		NC_000023.10:g.153008941A>G	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.2006_2007delAC (p.His669Leufs)	215	ABCD1	Pathogenic	797044625	RCV000173620;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153008957	153008958	NM_000033.3:c.2006_2007delAC	NP_000024.2:p.His669Leufs	NC_000023.10:g.153008957_153008958delAC	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.2190G>A (p.Pro730=)	215	ABCD1	Likely benign	193922096	RCV000029287;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153009141	153009141	NM_000033.3:c.2190G>A	NP_000024.2:p.Pro730=	NC_000023.10:g.153009141G>A	-	C0162309 300100 Adrenoleukodystrophy
NM_000033.3(ABCD1):c.*208G>C	215	ABCD1	Uncertain significance	193922092	RCV000029288;	N	MedGen:C0162309,OMIM:300100,ORPHA:43,SNOMED CT:65389002	X	153009397	153009397	NM_000033.3:c.*208G>C		NC_000023.10:g.153009397G>C	-	C0162309 300100 Adrenoleukodystrophy