ABCD1 (ATP binding cassette subfamily D member 1) - Rat Genome Database

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Gene: ABCD1 (ATP binding cassette subfamily D member 1) Homo sapiens
Analyze
Symbol: ABCD1
Name: ATP binding cassette subfamily D member 1
RGD ID: 1352747
HGNC Page HGNC:61
Description: Enables several functions, including ATP hydrolysis activity; adenyl ribonucleotide binding activity; and organic anion transmembrane transporter activity. Involved in several processes, including fatty acid catabolic process; long-chain fatty acid import into peroxisome; and very long-chain fatty-acyl-CoA catabolic process. Located in several cellular components, including bounding membrane of organelle; mitochondrial membrane; and perinuclear region of cytoplasm. Implicated in adrenoleukodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC42; adrenoleukodystrophy protein; ALD; ALDP; AMN; ATP-binding cassette sub-family D member 1; ATP-binding cassette, sub-family D (ALD), member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ABCD1P1   ABCD1P2   ABCD1P3   ABCD1P4   ABCD1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,724,856 - 153,744,755 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,724,856 - 153,744,755 (+)EnsemblGRCh38hg38GRCh38
GRCh37X152,990,311 - 153,010,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,643,530 - 152,663,375 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X152,511,182 - 152,531,028NCBI
CeleraX153,224,004 - 153,243,898 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,647,579 - 141,667,479 (+)NCBIHuRef
CHM1_1X152,864,732 - 152,884,627 (+)NCBICHM1_1
T2T-CHM13v2.0X151,998,519 - 152,018,419 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal brainstem white matter morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating fatty-acid concentration  (IAGP)
Abnormal libido  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal spinal cord morphology  (IAGP)
Abnormality of peripheral nervous system electrophysiology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the nervous system  (IAGP)
Adducted thumb  (IAGP)
Adrenal hypoplasia  (IAGP)
Adrenal insufficiency  (IAGP)
Adrenocortical abnormality  (IAGP)
Adrenocorticotropic hormone excess  (IAGP)
Aganglionic megacolon  (IAGP)
Alopecia  (IAGP)
Ankle clonus  (IAGP)
Apraxia  (IAGP)
Astereognosis  (IAGP)
Ataxia  (IAGP)
Atrophy of the spinal cord  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Axonal degeneration  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Blindness  (IAGP)
Bowel incontinence  (IAGP)
Brain imaging abnormality  (IAGP)
Bulbar palsy  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Cholangitis  (IAGP)
Cholestasis  (IAGP)
CNS demyelination  (IAGP)
Cognitive impairment  (IAGP)
Confusion  (IAGP)
Constipation  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased circulating vitamin B12 concentration  (IAGP)
Delayed somatosensory central conduction time  (IAGP)
Dementia  (IAGP)
Diarrhea  (IAGP)
Diffuse demyelination of the cerebral white matter  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dorsal column degeneration  (IAGP)
Dysarthria  (IAGP)
Dysesthesia  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating long chain fatty acid concentration  (IAGP)
Episodic vomiting  (IAGP)
Erectile dysfunction  (IAGP)
Facial myokymia  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Female sexual dysfunction  (IAGP)
Fine hair  (IAGP)
Frontal balding  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Generalized hyperreflexia  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hamstring contractures  (IAGP)
Hearing impairment  (IAGP)
Hemiparesis  (IAGP)
Hoffmann sign  (IAGP)
Hyperactivity  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Impaired continence  (IAGP)
Impaired vibration sensation at ankles  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Impotence  (IAGP)
Inability to walk  (IAGP)
Incoordination  (IAGP)
Increased circulating very long-chain fatty acid concentration  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Intra-oral hyperpigmentation  (IAGP)
Intrauterine growth retardation  (IAGP)
Leg muscle stiffness  (IAGP)
Limb ataxia  (IAGP)
Limb myoclonus  (IAGP)
Lip hyperpigmentation  (IAGP)
Loss of speech  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Male hypogonadism  (IAGP)
Male sexual dysfunction  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Micrognathia  (IAGP)
Myelopathy  (IAGP)
Myocarditis  (IAGP)
Nasogastric tube feeding  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neurodegeneration  (IAGP)
Oculomotor apraxia  (IAGP)
Paraparesis  (IAGP)
Peripheral axonal degeneration  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Polyneuropathy  (IAGP)
Primary adrenal insufficiency  (IAGP)
Progressive  (IAGP)
Progressive spastic paraparesis  (IAGP)
Psychosis  (IAGP)
Recurrent fever  (IAGP)
Reduced visual acuity  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Slurred speech  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Truncal ataxia  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary retention  (IAGP)
Urinary urgency  (IAGP)
Vegetative state  (IAGP)
Ventriculomegaly  (IAGP)
Very long chain fatty acid accumulation  (IAGP)
Visual agnosia  (IAGP)
Visual loss  (IAGP)
Weight loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. Kemp S, etal., Biochem Biophys Res Commun. 1994 Jul 29;202(2):647-53.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1746561   PMID:6524872   PMID:6795626   PMID:7581394   PMID:7668254   PMID:7717396   PMID:7811247   PMID:7825602   PMID:7849723   PMID:7904210   PMID:7959759   PMID:8002973  
PMID:8004093   PMID:8040304   PMID:8441467   PMID:8507690   PMID:8520725   PMID:8535452   PMID:8566952   PMID:8651290   PMID:9195223   PMID:9215666   PMID:9425230   PMID:9702690  
PMID:10190819   PMID:10369742   PMID:10480364   PMID:10551832   PMID:10640429   PMID:10704444   PMID:10737980   PMID:10777694   PMID:10980539   PMID:11248239   PMID:11438993   PMID:11500517  
PMID:11748843   PMID:11798073   PMID:11810273   PMID:11883941   PMID:11992258   PMID:12175782   PMID:12210797   PMID:12477932   PMID:12509471   PMID:12530690   PMID:12579499   PMID:12624723  
PMID:14533738   PMID:14556192   PMID:14767898   PMID:15001567   PMID:15489334   PMID:15682271   PMID:15772093   PMID:15772651   PMID:15781447   PMID:16018167   PMID:16087056   PMID:16331554  
PMID:16756494   PMID:16781659   PMID:16946495   PMID:17285533   PMID:17504626   PMID:17542813   PMID:17609205   PMID:17662307   PMID:17761426   PMID:17828604   PMID:18306728   PMID:18481121  
PMID:18757502   PMID:18973459   PMID:19204726   PMID:19343046   PMID:19406751   PMID:19787628   PMID:19946888   PMID:20042197   PMID:20301491   PMID:20376793   PMID:20531392   PMID:20659892  
PMID:20661612   PMID:20810565   PMID:20811636   PMID:20889312   PMID:21145416   PMID:21273699   PMID:21700483   PMID:21873635   PMID:21889498   PMID:21966424   PMID:21988832   PMID:22280810  
PMID:22810586   PMID:22939629   PMID:22994209   PMID:23123468   PMID:23300730   PMID:23469258   PMID:23566833   PMID:23671276   PMID:23835273   PMID:24154795   PMID:24480483   PMID:24501781  
PMID:24597975   PMID:25044748   PMID:25234129   PMID:25275259   PMID:25393703   PMID:25835712   PMID:25921289   PMID:26186194   PMID:26454440   PMID:26496610   PMID:26686776   PMID:27084228  
PMID:27337030   PMID:27342126   PMID:27766264   PMID:28514442   PMID:28601575   PMID:28911205   PMID:29117863   PMID:29136088   PMID:29180619   PMID:29397936   PMID:29966135   PMID:30021884  
PMID:31073040   PMID:31074578   PMID:31298480   PMID:31536960   PMID:31586073   PMID:31665121   PMID:31871319   PMID:32075856   PMID:32409323   PMID:32416190   PMID:32918875   PMID:33127985  
PMID:33373044   PMID:33500543   PMID:33961781   PMID:34056752   PMID:34069712   PMID:34079125   PMID:34198763   PMID:34347682   PMID:34649108   PMID:34754073   PMID:34943935   PMID:34946879  
PMID:35013584   PMID:35053399   PMID:35338135   PMID:35676282   PMID:35748872   PMID:35777956   PMID:35833506   PMID:35906200   PMID:35944360   PMID:36215168   PMID:36374178   PMID:36517590  
PMID:36810450   PMID:36966971   PMID:37774976   PMID:38496616  


Genomics

Comparative Map Data
ABCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,724,856 - 153,744,755 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,724,856 - 153,744,755 (+)EnsemblGRCh38hg38GRCh38
GRCh37X152,990,311 - 153,010,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,643,530 - 152,663,375 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X152,511,182 - 152,531,028NCBI
CeleraX153,224,004 - 153,243,898 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,647,579 - 141,667,479 (+)NCBIHuRef
CHM1_1X152,864,732 - 152,884,627 (+)NCBICHM1_1
T2T-CHM13v2.0X151,998,519 - 152,018,419 (+)NCBIT2T-CHM13v2.0
Abcd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,760,203 - 72,782,140 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX72,760,203 - 72,782,140 (+)EnsemblGRCm39 Ensembl
GRCm38X73,716,597 - 73,738,534 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,716,597 - 73,738,534 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,961,936 - 70,983,626 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X69,969,317 - 69,991,007 (+)NCBIMGSCv36mm8
CeleraX64,970,295 - 64,991,971 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.39NCBI
Abcd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X156,579,669 - 156,601,448 (+)NCBIGRCr8
mRatBN7.2X151,428,334 - 151,450,115 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX151,428,578 - 151,450,115 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX153,569,626 - 153,591,020 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,132,856 - 157,154,250 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X154,804,685 - 154,826,079 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X157,073,860 - 157,095,652 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX157,072,736 - 157,095,274 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,823,436 - 152,844,829 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,614,569 - 159,635,963 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1136,439,697 - 136,461,090 (-)NCBICelera
Cytogenetic MapXq37NCBI
Abcd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580459,715 - 475,774 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580459,715 - 475,363 (+)NCBIChiLan1.0ChiLan1.0
ABCD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X153,764,997 - 153,785,252 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X153,768,686 - 153,788,864 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,275,165 - 143,295,283 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,162,412 - 153,182,424 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,162,412 - 153,182,424 (+)Ensemblpanpan1.1panPan2
ABCD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,545,690 - 121,564,117 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,545,586 - 121,563,186 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,875,063 - 106,895,708 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X124,687,215 - 124,707,872 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX124,687,201 - 124,705,644 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X120,456,646 - 120,477,290 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X122,971,670 - 122,992,305 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X122,733,767 - 122,754,413 (+)NCBIUU_Cfam_GSD_1.0
Abcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,877,295 - 118,896,851 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936809615,139 - 635,990 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936809615,133 - 634,618 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,485,076 - 124,501,741 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,485,076 - 124,501,742 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,049,646 - 142,066,321 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,152,697 - 128,171,007 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606566,018,682 - 66,038,332 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946421,132 - 440,075 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946421,113 - 439,961 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCD1
1300 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) single nucleotide variant Adrenoleukodystrophy [RCV000544041]|not provided [RCV001580508] ChrX:153725577 [GRCh38]
ChrX:152991032 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1082-1G>A single nucleotide variant Adrenoleukodystrophy [RCV001377327]|not provided [RCV000519461] ChrX:153736111 [GRCh38]
ChrX:153001565 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) duplication Adrenoleukodystrophy [RCV000550301] ChrX:153726031..153726032 [GRCh38]
ChrX:152991486..152991487 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) single nucleotide variant Adrenoleukodystrophy [RCV001851420]|not specified [RCV000517907] ChrX:153726084 [GRCh38]
ChrX:152991539 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) duplication Adrenoleukodystrophy [RCV000029284] ChrX:153736484..153736485 [GRCh38]
ChrX:153001938..153001939 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) single nucleotide variant Adrenoleukodystrophy [RCV000029285] ChrX:153740195 [GRCh38]
ChrX:153005649 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1780+4G>A single nucleotide variant Adrenoleukodystrophy [RCV000029286] ChrX:153740723 [GRCh38]
ChrX:153006177 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) single nucleotide variant Adrenoleukodystrophy [RCV000029287]|Inborn genetic diseases [RCV002311525] ChrX:153743687 [GRCh38]
ChrX:153009141 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.*208G>C single nucleotide variant Adrenoleukodystrophy [RCV000029288] ChrX:153743943 [GRCh38]
ChrX:153009397 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) single nucleotide variant Adrenoleukodystrophy [RCV000029289]|not provided [RCV000723567] ChrX:153725687 [GRCh38]
ChrX:152991142 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) single nucleotide variant ABCD1-related disorder [RCV003407363]|Adrenoleukodystrophy [RCV000029290]|History of neurodevelopmental disorder [RCV000721083]|not provided [RCV001781320] ChrX:153726104 [GRCh38]
ChrX:152991559 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) single nucleotide variant not provided [RCV000727570] ChrX:153725928 [GRCh38]
ChrX:152991383 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) single nucleotide variant Adrenoleukodystrophy [RCV000544959]|Inborn genetic diseases [RCV002431553]|not provided [RCV003128625] ChrX:153743698 [GRCh38]
ChrX:153009152 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) single nucleotide variant Adrenoleukodystrophy [RCV000633489] ChrX:153743500 [GRCh38]
ChrX:153008954 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del) microsatellite Adrenoleukodystrophy [RCV000560921] ChrX:153740682..153740684 [GRCh38]
ChrX:153006136..153006138 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) single nucleotide variant Adrenoleukodystrophy [RCV000557311]|Inborn genetic diseases [RCV004649187]|not provided [RCV001529574] ChrX:153736454 [GRCh38]
ChrX:153001908 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) duplication Adrenoleukodystrophy [RCV000551222] ChrX:153725801..153725802 [GRCh38]
ChrX:152991256..152991257 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) single nucleotide variant Adrenoleukodystrophy [RCV000012044] ChrX:153726137 [GRCh38]
ChrX:152991592 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) single nucleotide variant Adrenoleukodystrophy [RCV000012045] ChrX:153737214 [GRCh38]
ChrX:153002668 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1635-2A>G single nucleotide variant Adrenoleukodystrophy [RCV000012046]|Inborn genetic diseases [RCV002399317]|not provided [RCV003886360] ChrX:153740572 [GRCh38]
ChrX:153006026 [GRCh37]
ChrX:Xq28		 pathogenic
ABCD1, IVS8AS, G-A, -10, 8-BP INS insertion Adrenoleukodystrophy [RCV000012047] ChrX:Xq28 pathogenic
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) single nucleotide variant Adrenoleukodystrophy [RCV000012048]|not provided [RCV003488335] ChrX:153736195 [GRCh38]
ChrX:153001649 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) single nucleotide variant Adrenoleukodystrophy [RCV000012049]|not provided [RCV001268346] ChrX:153725709 [GRCh38]
ChrX:152991164 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) single nucleotide variant Adrenoleukodystrophy [RCV000012050] ChrX:153725786 [GRCh38]
ChrX:152991241 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) single nucleotide variant Adrenoleukodystrophy [RCV000012051]|Inborn genetic diseases [RCV002415409]|X-linked spondyloepimetaphyseal dysplasia [RCV001358196]|not provided [RCV000723479] ChrX:153726062 [GRCh38]
ChrX:152991517 [GRCh37]
ChrX:Xq28		 pathogenic|benign
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) single nucleotide variant Adrenoleukodystrophy [RCV000012052]|not provided [RCV001781249]|not specified [RCV001001636] ChrX:153736232 [GRCh38]
ChrX:153001686 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) single nucleotide variant Adrenoleukodystrophy [RCV000012053]|not provided [RCV000518515] ChrX:153736372 [GRCh38]
ChrX:153001826 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) single nucleotide variant ABCD1-related disorder [RCV003415686]|Adrenoleukodystrophy [RCV000012054]|not provided [RCV001781250] ChrX:153736510 [GRCh38]
ChrX:153001964 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) deletion Adrenoleukodystrophy [RCV000012055]|not provided [RCV000516943] ChrX:153737178..153737179 [GRCh38]
ChrX:153002632..153002633 [GRCh37]
ChrX:Xq28		 pathogenic|benign
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) single nucleotide variant Adrenoleukodystrophy [RCV000012056] ChrX:153737192 [GRCh38]
ChrX:153002646 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) single nucleotide variant Adrenoleukodystrophy [RCV000012057] ChrX:153740147 [GRCh38]
ChrX:153005601 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) deletion Adrenoleukodystrophy [RCV000012058] ChrX:153740154 [GRCh38]
ChrX:153005608 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) single nucleotide variant Adrenoleukodystrophy [RCV000012059]|X-linked spondyloepimetaphyseal dysplasia [RCV001358358]|not provided [RCV000723537] ChrX:153740155 [GRCh38]
ChrX:153005609 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1634+1G>A single nucleotide variant Adrenoleukodystrophy [RCV000012060] ChrX:153740238 [GRCh38]
ChrX:153005692 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs) deletion Adrenoleukodystrophy [RCV000012061] ChrX:153742997..153742998 [GRCh38]
ChrX:153008451..153008452 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) single nucleotide variant Adrenoleukodystrophy [RCV000180094]|Primary adrenocortical insufficiency [RCV000012062]|not provided [RCV000517966] ChrX:153743023 [GRCh38]
ChrX:153008477 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1820del (p.Gly607fs) deletion Primary adrenocortical insufficiency [RCV000012063] ChrX:153743024 [GRCh38]
ChrX:153008478 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) single nucleotide variant Adrenoleukodystrophy [RCV000012064]|not provided [RCV000723904] ChrX:153743056 [GRCh38]
ChrX:153008510 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) single nucleotide variant Adrenoleukodystrophy [RCV000012065]|not provided [RCV001093003] ChrX:153743055 [GRCh38]
ChrX:153008509 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) microsatellite Adrenoleukodystrophy [RCV000012066]|not provided [RCV000675191] ChrX:153726136..153726138 [GRCh38]
ChrX:152991591..152991593 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1865+1G>A single nucleotide variant Adrenoleukodystrophy [RCV000012067] ChrX:153743072 [GRCh38]
ChrX:153008526 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) single nucleotide variant Adrenoleukodystrophy [RCV000012068] ChrX:153726166 [GRCh38]
ChrX:152991621 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) deletion Adrenoleukodystrophy [RCV000012069] ChrX:153725249..153725274 [GRCh38]
ChrX:152990704..152990729 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) single nucleotide variant Adrenoleukodystrophy [RCV000633487]|not specified [RCV000517778] ChrX:153736213 [GRCh38]
ChrX:153001667 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) single nucleotide variant Adrenoleukodystrophy [RCV000552581] ChrX:153743334 [GRCh38]
ChrX:153008788 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.2037G>A (p.Trp679Ter) single nucleotide variant not provided [RCV000521436] ChrX:153743534 [GRCh38]
ChrX:153008988 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) single nucleotide variant Adrenoleukodystrophy [RCV000173051]|Inborn genetic diseases [RCV002372080]|not provided [RCV000724285] ChrX:153726153 [GRCh38]
ChrX:152991608 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) single nucleotide variant not provided [RCV000173053] ChrX:153726152 [GRCh38]
ChrX:152991607 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 copy number loss See cases [RCV000051751] ChrX:153667032..153817949 [GRCh38]
ChrX:152585681..152736598 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) microsatellite Adrenoleukodystrophy [RCV002516594]|not provided [RCV000173620] ChrX:153743496..153743497 [GRCh38]
ChrX:153008950..153008951 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1992-2A>G single nucleotide variant Adrenoleukodystrophy [RCV003624406]|not provided [RCV000173621] ChrX:153743487 [GRCh38]
ChrX:153008941 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.*8G>C single nucleotide variant Adrenoleukodystrophy [RCV000360011]|History of neurodevelopmental disorder [RCV000715337]|not provided [RCV000675199]|not specified [RCV000077949] ChrX:153743743 [GRCh38]
ChrX:153009197 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) single nucleotide variant Adrenoleukodystrophy [RCV001063464]|not provided [RCV000077950] ChrX:153737159 [GRCh38]
ChrX:153002613 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1489-6del deletion Adrenoleukodystrophy [RCV000367227]|not provided [RCV001705720]|not specified [RCV000077952] ChrX:153740083 [GRCh38]
ChrX:153005537 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) single nucleotide variant Adrenoleukodystrophy [RCV000402140]|Inborn genetic diseases [RCV002311545]|not provided [RCV000675193]|not specified [RCV000077953] ChrX:153740151 [GRCh38]
ChrX:153005605 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) single nucleotide variant Adrenoleukodystrophy [RCV000077955]|not provided [RCV000723540] ChrX:153740156 [GRCh38]
ChrX:153005610 [GRCh37]
ChrX:Xq28		 pathogenic|benign
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) single nucleotide variant not provided [RCV000077956] ChrX:153740189 [GRCh38]
ChrX:153005643 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) single nucleotide variant not provided [RCV000077957] ChrX:153740599 [GRCh38]
ChrX:153006053 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) single nucleotide variant Adrenoleukodystrophy [RCV000077958]|Inborn genetic diseases [RCV002399466]|not provided [RCV000723625] ChrX:153740618 [GRCh38]
ChrX:153006072 [GRCh37]
ChrX:Xq28		 pathogenic|benign
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) single nucleotide variant Adrenoleukodystrophy [RCV000808514]|not provided [RCV000498217] ChrX:153740710 [GRCh38]
ChrX:153006164 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) single nucleotide variant Adrenoleukodystrophy [RCV002513814]|not provided [RCV000077960] ChrX:153743008 [GRCh38]
ChrX:153008462 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1866-10G>A single nucleotide variant Adrenoleukodystrophy [RCV000077961]|Inborn genetic diseases [RCV002408605]|Spastic gait [RCV000626568]|not provided [RCV000414732]|not specified [RCV001000924] ChrX:153743211 [GRCh38]
ChrX:153008665 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.31_46del (p.Arg11fs) deletion not provided [RCV000077962] ChrX:153725297..153725312 [GRCh38]
ChrX:152990752..152990767 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) single nucleotide variant Adrenoleukodystrophy [RCV002513815]|Inborn genetic diseases [RCV002460043]|not provided [RCV000077963] ChrX:153725612 [GRCh38]
ChrX:152991067 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) single nucleotide variant Adrenoleukodystrophy [RCV002515752]|not provided [RCV000077964] ChrX:153725672 [GRCh38]
ChrX:152991127 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) deletion Adrenoleukodystrophy [RCV001800384]|not provided [RCV000077966] ChrX:153725761..153725783 [GRCh38]
ChrX:152991216..152991238 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) single nucleotide variant Adrenoleukodystrophy [RCV001390637]|not provided [RCV000077967] ChrX:153725880 [GRCh38]
ChrX:152991335 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.901-16C>T single nucleotide variant Adrenoleukodystrophy [RCV001519003]|not provided [RCV001795051]|not specified [RCV000077968] ChrX:153729216 [GRCh38]
ChrX:152994671 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.1781-1G>A single nucleotide variant not provided [RCV000180095] ChrX:153742986 [GRCh38]
ChrX:153008440 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser) single nucleotide variant Adrenoleukodystrophy [RCV001290372] ChrX:153725720 [GRCh38]
ChrX:152991175 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) single nucleotide variant Adrenoleukodystrophy [RCV000763198]|not provided [RCV000178024] ChrX:153736408 [GRCh38]
ChrX:153001862 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.750G>C (p.Val250=) single nucleotide variant Adrenoleukodystrophy [RCV002516575]|not provided [RCV000173050] ChrX:153726016 [GRCh38]
ChrX:152991471 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) single nucleotide variant Adrenoleukodystrophy [RCV000395710]|Inborn genetic diseases [RCV002313018]|not provided [RCV000173052] ChrX:153725973 [GRCh38]
ChrX:152991428 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.104del (p.Leu35fs) deletion not provided [RCV001291585] ChrX:153725369 [GRCh38]
ChrX:152990824 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.2237G>C (p.Ter746Ser) single nucleotide variant not provided [RCV000173622] ChrX:153743734 [GRCh38]
ChrX:153009188 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1992-15C>T single nucleotide variant Adrenoleukodystrophy [RCV003512020]|not provided [RCV000173623] ChrX:153743474 [GRCh38]
ChrX:153008928 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) single nucleotide variant Adrenoleukodystrophy [RCV000354458]|X-linked cerebral adrenoleukodystrophy [RCV001354702]|not specified [RCV000202845] ChrX:153743022 [GRCh38]
ChrX:153008476 [GRCh37]
ChrX:Xq28		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) single nucleotide variant ABCD1-related disorder [RCV003977553]|Adrenoleukodystrophy [RCV000602068]|Inborn genetic diseases [RCV002311311]|not provided [RCV000675195]|not specified [RCV000202951] ChrX:153740683 [GRCh38]
ChrX:153006137 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) single nucleotide variant Adrenoleukodystrophy [RCV000990979]|not provided [RCV001358088]|not specified [RCV000203059] ChrX:153743029 [GRCh38]
ChrX:153008483 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) single nucleotide variant ABCD1-related disorder [RCV003967540]|Adrenoleukodystrophy [RCV000608121]|Inborn genetic diseases [RCV002311312]|not specified [RCV000203152] ChrX:153740687 [GRCh38]
ChrX:153006141 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) single nucleotide variant Adrenoleukodystrophy [RCV000202647] ChrX:153725917 [GRCh38]
ChrX:152991372 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) single nucleotide variant Adrenoleukodystrophy [RCV000259599]|Inborn genetic diseases [RCV002312671]|not provided [RCV000675198]|not specified [RCV000152722] ChrX:153743516 [GRCh38]
ChrX:153008970 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) single nucleotide variant Adrenoleukodystrophy [RCV001084845]|not provided [RCV000152718] ChrX:153725515 [GRCh38]
ChrX:152990970 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) duplication Adrenoleukodystrophy [RCV000149556]|not provided [RCV000790677] ChrX:153725514..153725515 [GRCh38]
ChrX:152990969..152990970 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) single nucleotide variant not provided [RCV000152719] ChrX:153736231 [GRCh38]
ChrX:153001685 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) single nucleotide variant Adrenoleukodystrophy [RCV001203306]|not provided [RCV000516866] ChrX:153740600 [GRCh38]
ChrX:153006054 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) single nucleotide variant Adrenoleukodystrophy [RCV000152721]|not provided [RCV000723952] ChrX:153743031 [GRCh38]
ChrX:153008485 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.1516A>C (p.Thr506Pro) single nucleotide variant not provided [RCV000179244] ChrX:153740119 [GRCh38]
ChrX:153005573 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) single nucleotide variant ABCD1-related disorder [RCV003895205]|Adrenoleukodystrophy [RCV001085784]|Inborn genetic diseases [RCV002408781]|not provided [RCV000180096] ChrX:153743024 [GRCh38]
ChrX:153008478 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1792A>G (p.Met598Val) single nucleotide variant not provided [RCV000180097] ChrX:153742998 [GRCh38]
ChrX:153008452 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del) microsatellite Adrenoleukodystrophy [RCV001826897]|not provided [RCV000723443] ChrX:153736144..153736146 [GRCh38]
ChrX:153001598..153001600 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1955T>A (p.Ile652Asn) single nucleotide variant not provided [RCV000180454] ChrX:153743310 [GRCh38]
ChrX:153008764 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1904T>C (p.Val635Ala) single nucleotide variant not provided [RCV000180455] ChrX:153743259 [GRCh38]
ChrX:153008713 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.901-10C>T single nucleotide variant Adrenoleukodystrophy [RCV000289211]|not provided [RCV001711863]|not specified [RCV000292632] ChrX:153729222 [GRCh38]
ChrX:152994677 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000033.4(ABCD1):c.1780+2T>G single nucleotide variant Adrenoleukodystrophy [RCV000548944] ChrX:153740721 [GRCh38]
ChrX:153006175 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) single nucleotide variant Adrenoleukodystrophy [RCV000549873]|not provided [RCV003139755] ChrX:153740136 [GRCh38]
ChrX:153005590 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) single nucleotide variant Adrenoleukodystrophy [RCV000758252] ChrX:153725861 [GRCh38]
ChrX:152991316 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) single nucleotide variant Adrenoleukodystrophy [RCV000556385] ChrX:153737230 [GRCh38]
ChrX:153002684 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) single nucleotide variant Adrenoleukodystrophy [RCV000557880]|Inborn genetic diseases [RCV002314949]|not provided [RCV001637067] ChrX:153725737 [GRCh38]
ChrX:152991192 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152925866-153032459)x2 copy number gain See cases [RCV000240069] ChrX:152925866..153032459 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) single nucleotide variant Adrenoleukodystrophy [RCV000578153] ChrX:153736231 [GRCh38]
ChrX:153001685 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1635-3C>G single nucleotide variant Adrenoleukodystrophy [RCV001804236] ChrX:153740571 [GRCh38]
ChrX:153006025 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_000033.4(ABCD1):c.1866-11C>A single nucleotide variant not specified [RCV000516389] ChrX:153743210 [GRCh38]
ChrX:153008664 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.*985C>G single nucleotide variant Adrenoleukodystrophy [RCV000265039] ChrX:153744720 [GRCh38]
ChrX:153010174 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.-59C>T single nucleotide variant Adrenoleukodystrophy [RCV000286561]|not provided [RCV001354444] ChrX:153725208 [GRCh38]
ChrX:152990663 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.*894G>A single nucleotide variant Adrenoleukodystrophy [RCV000305050] ChrX:153744629 [GRCh38]
ChrX:153010083 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.*903G>A single nucleotide variant Adrenoleukodystrophy [RCV000359653] ChrX:153744638 [GRCh38]
ChrX:153010092 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) single nucleotide variant ABCD1-related disorder [RCV003401238]|Adrenoleukodystrophy [RCV000633484]|not provided [RCV000488080] ChrX:153743255 [GRCh38]
ChrX:153008709 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) single nucleotide variant Adrenoleukodystrophy [RCV000323903] ChrX:153743541 [GRCh38]
ChrX:153008995 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.*668C>T single nucleotide variant Adrenoleukodystrophy [RCV000394965] ChrX:153744403 [GRCh38]
ChrX:153009857 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) single nucleotide variant Adrenoleukodystrophy [RCV000312537] ChrX:153737191 [GRCh38]
ChrX:153002645 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.-202C>G single nucleotide variant Adrenoleukodystrophy [RCV000371785] ChrX:153725065 [GRCh38]
ChrX:152990520 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.*123C>T single nucleotide variant Adrenoleukodystrophy [RCV000320257]|not provided [RCV001591043] ChrX:153743858 [GRCh38]
ChrX:153009312 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.*530G>A single nucleotide variant Adrenoleukodystrophy [RCV000351429] ChrX:153744265 [GRCh38]
ChrX:153009719 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.258C>T (p.Val86=) single nucleotide variant Adrenoleukodystrophy [RCV000283168]|Inborn genetic diseases [RCV002314111]|not provided [RCV000585583]|not specified [RCV001001193] ChrX:153725524 [GRCh38]
ChrX:152990979 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.-10C>T single nucleotide variant Adrenoleukodystrophy [RCV000322981] ChrX:153725257 [GRCh38]
ChrX:152990712 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) single nucleotide variant Adrenoleukodystrophy [RCV000377597]|Inborn genetic diseases [RCV002314110]|not provided [RCV001528897]|not specified [RCV001000486] ChrX:153725304 [GRCh38]
ChrX:152990759 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.*412T>C single nucleotide variant Adrenoleukodystrophy [RCV000326201] ChrX:153744147 [GRCh38]
ChrX:153009601 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*473C>T single nucleotide variant Adrenoleukodystrophy [RCV000380867] ChrX:153744208 [GRCh38]
ChrX:153009662 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.*870G>T single nucleotide variant Adrenoleukodystrophy [RCV000353490] ChrX:153744605 [GRCh38]
ChrX:153010059 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*196C>G single nucleotide variant Adrenoleukodystrophy [RCV000384405] ChrX:153743931 [GRCh38]
ChrX:153009385 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*259A>G single nucleotide variant Adrenoleukodystrophy [RCV000290033] ChrX:153743994 [GRCh38]
ChrX:153009448 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*564G>A single nucleotide variant Adrenoleukodystrophy [RCV000293158] ChrX:153744299 [GRCh38]
ChrX:153009753 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.*481G>T single nucleotide variant Adrenoleukodystrophy [RCV000296588] ChrX:153744216 [GRCh38]
ChrX:153009670 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*608G>A single nucleotide variant Adrenoleukodystrophy [RCV000338821] ChrX:153744343 [GRCh38]
ChrX:153009797 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.*877C>T single nucleotide variant Adrenoleukodystrophy [RCV000394962] ChrX:153744612 [GRCh38]
ChrX:153010066 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) single nucleotide variant Adrenoleukodystrophy [RCV000395704]|Inborn genetic diseases [RCV002379261]|not provided [RCV003430978] ChrX:153736474 [GRCh38]
ChrX:153001928 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) single nucleotide variant Adrenoleukodystrophy [RCV000299483]|not provided [RCV001355186] ChrX:153743016 [GRCh38]
ChrX:153008470 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
NM_000033.4(ABCD1):c.*795C>T single nucleotide variant Adrenoleukodystrophy [RCV000298659] ChrX:153744530 [GRCh38]
ChrX:153009984 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) single nucleotide variant Adrenoleukodystrophy [RCV000347550]|Inborn genetic diseases [RCV002314112]|not provided [RCV001706618]|not specified [RCV000517474] ChrX:153725962 [GRCh38]
ChrX:152991417 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.*548GAGAGGG[1] microsatellite Adrenoleukodystrophy [RCV000404605] ChrX:153744281..153744287 [GRCh38]
ChrX:153009735..153009741 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) single nucleotide variant Adrenoleukodystrophy [RCV001209093]|not provided [RCV000279661] ChrX:153743267 [GRCh38]
ChrX:153008721 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.-342G>A single nucleotide variant Adrenoleukodystrophy [RCV000316981] ChrX:153724925 [GRCh38]
ChrX:152990380 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*10C>T single nucleotide variant Adrenoleukodystrophy [RCV000265151] ChrX:153743745 [GRCh38]
ChrX:153009199 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) single nucleotide variant ABCD1-related disorder [RCV003391027]|Adrenoleukodystrophy [RCV000984141]|not provided [RCV000268436] ChrX:153736196 [GRCh38]
ChrX:153001650 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) single nucleotide variant Adrenoleukodystrophy [RCV000352292] ChrX:153736245 [GRCh38]
ChrX:153001699 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) single nucleotide variant Adrenoleukodystrophy [RCV001290674]|not provided [RCV000408645] ChrX:153725795 [GRCh38]
ChrX:152991250 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp) single nucleotide variant Adrenoleukodystrophy [RCV002282796] ChrX:153725559 [GRCh38]
ChrX:152991014 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) single nucleotide variant Adrenoleukodystrophy [RCV001279587] ChrX:153736447 [GRCh38]
ChrX:153001901 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_000033.4(ABCD1):c.22dup (p.Arg8fs) duplication Adrenoleukodystrophy [RCV003314491] ChrX:153725284..153725285 [GRCh38]
ChrX:152990739..152990740 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) single nucleotide variant Adrenoleukodystrophy [RCV000814299]|not provided [RCV000490160] ChrX:153736171 [GRCh38]
ChrX:153001625 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.838C>G (p.Arg280Gly) single nucleotide variant not specified [RCV000516318] ChrX:153726104 [GRCh38]
ChrX:152991559 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) single nucleotide variant Adrenoleukodystrophy [RCV002463361]|not provided [RCV000307057] ChrX:153743343 [GRCh38]
ChrX:153008797 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1992-7T>A single nucleotide variant not provided [RCV000298818] ChrX:153743482 [GRCh38]
ChrX:153008936 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.3(ABCD1):c.*1035C>T single nucleotide variant Adrenoleukodystrophy [RCV000406870] ChrX:153744770 [GRCh38]
ChrX:153010224 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.146C>A (p.Pro49His) single nucleotide variant not provided [RCV000522830] ChrX:153725412 [GRCh38]
ChrX:152990867 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) single nucleotide variant Adrenoleukodystrophy [RCV000625957] ChrX:153743532 [GRCh38]
ChrX:153008986 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) single nucleotide variant Adrenoleukodystrophy [RCV003235483]|not provided [RCV001169925] ChrX:153740638 [GRCh38]
ChrX:153006092 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser) single nucleotide variant not provided [RCV000592687] ChrX:153726153 [GRCh38]
ChrX:152991608 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) indel Adrenoleukodystrophy [RCV000633483] ChrX:153725282..153725288 [GRCh38]
ChrX:152990737..152990743 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) single nucleotide variant Adrenoleukodystrophy [RCV000633495]|not provided [RCV003432663] ChrX:153743609 [GRCh38]
ChrX:153009063 [GRCh37]
ChrX:Xq28		 benign|likely benign
NC_000023.10:g.(?_153008421)_(153009209_?)del deletion Adrenoleukodystrophy [RCV000633500] ChrX:153008421..153009209 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) single nucleotide variant Adrenoleukodystrophy [RCV000806342] ChrX:153725913 [GRCh38]
ChrX:152991368 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.*12C>T single nucleotide variant Adrenoleukodystrophy [RCV001169826] ChrX:153743747 [GRCh38]
ChrX:153009201 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) single nucleotide variant Adrenoleukodystrophy [RCV000626183] ChrX:153737215 [GRCh38]
ChrX:153002669 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del) microsatellite Adrenoleukodystrophy [RCV000633478] ChrX:153725678..153725680 [GRCh38]
ChrX:152991133..152991135 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) deletion Adrenoleukodystrophy [RCV000633482] ChrX:153743024..153743027 [GRCh38]
ChrX:153008478..153008481 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) single nucleotide variant Adrenoleukodystrophy [RCV000633485]|not provided [RCV000727694] ChrX:153740231 [GRCh38]
ChrX:153005685 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.367G>A (p.Val123Ile) single nucleotide variant not provided [RCV000523898] ChrX:153725633 [GRCh38]
ChrX:152991088 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1489-24C>G single nucleotide variant Adrenoleukodystrophy [RCV001800816]|not provided [RCV000675192]|not specified [RCV000592106] ChrX:153740068 [GRCh38]
ChrX:153005522 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) single nucleotide variant Adrenoleukodystrophy [RCV000699535]|Inborn genetic diseases [RCV002338970]|not provided [RCV000414525] ChrX:153725754 [GRCh38]
ChrX:152991209 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) single nucleotide variant Adrenoleukodystrophy [RCV001553605]|not provided [RCV003487477] ChrX:153726095 [GRCh38]
ChrX:152991550 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs) microsatellite not provided [RCV000732042] ChrX:153729405..153729406 [GRCh38]
ChrX:152994860..152994861 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1203del (p.Ile402fs) deletion not provided [RCV000730014] ChrX:153736232 [GRCh38]
ChrX:153001686 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) single nucleotide variant Adrenoleukodystrophy [RCV000534849]|Inborn genetic diseases [RCV002395316]|not provided [RCV003488661] ChrX:153740129 [GRCh38]
ChrX:153005583 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1082-33C>A single nucleotide variant not specified [RCV001001036] ChrX:153736079 [GRCh38]
ChrX:153001533 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) insertion Adrenoleukodystrophy [RCV000530996] ChrX:153743494..153743495 [GRCh38]
ChrX:153008948..153008949 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) single nucleotide variant Adrenoleukodystrophy [RCV000536329]|not provided [RCV001783036] ChrX:153725787 [GRCh38]
ChrX:152991242 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.70del (p.Leu24fs) deletion Adrenoleukodystrophy [RCV000525103] ChrX:153725334 [GRCh38]
ChrX:152990789 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152969516-153044721)x3 copy number gain See cases [RCV000447135] ChrX:152969516..153044721 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) single nucleotide variant Adrenoleukodystrophy [RCV000681640]|not provided [RCV001720188] ChrX:153725658 [GRCh38]
ChrX:152991113 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) single nucleotide variant Adrenoleukodystrophy [RCV001241878]|Inborn genetic diseases [RCV001266868]|not provided [RCV000438496] ChrX:153725540 [GRCh38]
ChrX:152990995 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) single nucleotide variant Adrenoleukodystrophy [RCV000681650] ChrX:153726022 [GRCh38]
ChrX:152991477 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) single nucleotide variant Adrenoleukodystrophy [RCV001276529]|not provided [RCV000418353] ChrX:153725366 [GRCh38]
ChrX:152990821 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) single nucleotide variant Adrenoleukodystrophy [RCV001247652]|not provided [RCV000435174]|not specified [RCV003155179] ChrX:153743562 [GRCh38]
ChrX:153009016 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) single nucleotide variant Adrenoleukodystrophy [RCV000766078]|not provided [RCV000432469] ChrX:153740185 [GRCh38]
ChrX:153005639 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.757C>T (p.Leu253Phe) single nucleotide variant not provided [RCV000435936] ChrX:153726023 [GRCh38]
ChrX:152991478 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) single nucleotide variant Adrenoleukodystrophy [RCV000990974]|Inborn genetic diseases [RCV002314128]|not provided [RCV000426591]|not specified [RCV001001199] ChrX:153726023 [GRCh38]
ChrX:152991478 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) single nucleotide variant ABCD1-related disorder [RCV003902547]|Adrenoleukodystrophy [RCV000695726]|Inborn genetic diseases [RCV002411343]|not provided [RCV000434855]|not specified [RCV000507685] ChrX:153726089 [GRCh38]
ChrX:152991544 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) single nucleotide variant Adrenoleukodystrophy [RCV002524859]|not provided [RCV003488588]|not specified [RCV000426538] ChrX:153743670 [GRCh38]
ChrX:153009124 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) single nucleotide variant Adrenoleukodystrophy [RCV001833530]|not provided [RCV000426932] ChrX:153742996 [GRCh38]
ChrX:153008450 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) single nucleotide variant Adrenoleukodystrophy [RCV001835799]|not provided [RCV000433948] ChrX:153726075 [GRCh38]
ChrX:152991530 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) single nucleotide variant Adrenoleukodystrophy [RCV000853230]|not provided [RCV000480881] ChrX:153743250 [GRCh38]
ChrX:153008704 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.225_245del (p.Leu76_Leu82del) deletion not provided [RCV000483151] ChrX:153725488..153725508 [GRCh38]
ChrX:152990943..152990963 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) single nucleotide variant Adrenoleukodystrophy [RCV001239741]|not provided [RCV000512675]|not specified [RCV000502342] ChrX:153725306 [GRCh38]
ChrX:152990761 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.2170G>A (p.Val724Met) single nucleotide variant not specified [RCV000500662] ChrX:153743667 [GRCh38]
ChrX:153009121 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1865+11C>T single nucleotide variant Adrenoleukodystrophy [RCV002527343]|not specified [RCV000508577] ChrX:153743082 [GRCh38]
ChrX:153008536 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) single nucleotide variant ABCD1-related disorder [RCV003392323]|Adrenoleukodystrophy [RCV000633477]|Inborn genetic diseases [RCV002395197]|not provided [RCV000493818] ChrX:153726027 [GRCh38]
ChrX:152991482 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1393+31C>T single nucleotide variant Adrenoleukodystrophy [RCV001800722]|not provided [RCV001613325]|not specified [RCV000506070] ChrX:153736544 [GRCh38]
ChrX:153001998 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro) single nucleotide variant not specified [RCV000506858] ChrX:153740597 [GRCh38]
ChrX:153006051 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_000033.4(ABCD1):c.1992-32C>T single nucleotide variant Adrenoleukodystrophy [RCV001548920]|not provided [RCV001536741] ChrX:153743457 [GRCh38]
ChrX:153008911 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) single nucleotide variant Adrenoleukodystrophy [RCV000686131]|not provided [RCV000492856] ChrX:153726146 [GRCh38]
ChrX:152991601 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) deletion Adrenoleukodystrophy [RCV001800721]|not provided [RCV000991474]|not specified [RCV000507704] ChrX:153737200 [GRCh38]
ChrX:153002654 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) single nucleotide variant Adrenoleukodystrophy [RCV000633486]|Inborn genetic diseases [RCV002350104]|not provided [RCV000493301] ChrX:153725831 [GRCh38]
ChrX:152991286 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) single nucleotide variant Adrenoleukodystrophy [RCV000532174] ChrX:153736390 [GRCh38]
ChrX:153001844 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) single nucleotide variant ABCD1-related disorder [RCV003935769]|Adrenoleukodystrophy [RCV000633496]|not provided [RCV003432664] ChrX:153743269 [GRCh38]
ChrX:153008723 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) single nucleotide variant Adrenoleukodystrophy [RCV000547607] ChrX:153725708 [GRCh38]
ChrX:152991163 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) single nucleotide variant Adrenoleukodystrophy [RCV003512051]|not specified [RCV000518771] ChrX:153740117 [GRCh38]
ChrX:153005571 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) single nucleotide variant Adrenoleukodystrophy [RCV000633479] ChrX:153725504 [GRCh38]
ChrX:152990959 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) single nucleotide variant Adrenoleukodystrophy [RCV000633488]|not provided [RCV003139959]|not specified [RCV001251421] ChrX:153726005 [GRCh38]
ChrX:152991460 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) single nucleotide variant Adrenoleukodystrophy [RCV000633493] ChrX:153743248 [GRCh38]
ChrX:153008702 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) single nucleotide variant Adrenoleukodystrophy [RCV000633498]|Inborn genetic diseases [RCV002315952]|not provided [RCV003432665] ChrX:153743540 [GRCh38]
ChrX:153008994 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.1866-1G>C single nucleotide variant Adrenoleukodystrophy [RCV001243822]|Encephalitis [RCV000626569] ChrX:153743220 [GRCh38]
ChrX:153008674 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) single nucleotide variant ABCD1-related disorder [RCV003925603]|Adrenoleukodystrophy [RCV000537259]|Inborn genetic diseases [RCV002311848]|not provided [RCV001508971] ChrX:153725307 [GRCh38]
ChrX:152990762 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) single nucleotide variant Adrenoleukodystrophy [RCV000633490]|not provided [RCV003139960] ChrX:153740135 [GRCh38]
ChrX:153005589 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) single nucleotide variant Adrenoleukodystrophy [RCV000538578]|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV004541648]|Inborn genetic diseases [RCV002528315]|not provided [RCV000675196] ChrX:153740711 [GRCh38]
ChrX:153006165 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1081G>A (p.Asp361Asn) single nucleotide variant Inborn genetic diseases [RCV000624230] ChrX:153729412 [GRCh38]
ChrX:152994867 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) single nucleotide variant Adrenoleukodystrophy [RCV000541276] ChrX:153743495 [GRCh38]
ChrX:153008949 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.272C>G (p.Thr91Arg) single nucleotide variant not provided [RCV003312784] ChrX:153725538 [GRCh38]
ChrX:152990993 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.144G>A (p.Ala48=) single nucleotide variant Adrenoleukodystrophy [RCV003117394]|not specified [RCV000613493] ChrX:153725410 [GRCh38]
ChrX:152990865 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) single nucleotide variant ABCD1-related disorder [RCV003905698]|Adrenoleukodystrophy [RCV000633494]|Inborn genetic diseases [RCV002317383] ChrX:153729378 [GRCh38]
ChrX:152994833 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) single nucleotide variant Adrenoleukodystrophy [RCV000529139]|not provided [RCV001783035] ChrX:153725559 [GRCh38]
ChrX:152991014 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs) deletion Adrenoleukodystrophy [RCV003315149]|not provided [RCV003886620] ChrX:153725987..153725988 [GRCh38]
ChrX:152991442..152991443 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) single nucleotide variant Adrenoleukodystrophy [RCV000535763] ChrX:153737167 [GRCh38]
ChrX:153002621 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) single nucleotide variant Adrenoleukodystrophy [RCV000613593]|not provided [RCV001727783] ChrX:153736381 [GRCh38]
ChrX:153001835 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_000033.4(ABCD1):c.-20C>T single nucleotide variant Adrenoleukodystrophy [RCV001279584]|not specified [RCV000600256] ChrX:153725247 [GRCh38]
ChrX:152990702 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) single nucleotide variant ABCD1-related disorder [RCV003935340]|Adrenoleukodystrophy [RCV001086974]|Inborn genetic diseases [RCV002350133]|not provided [RCV000512910] ChrX:153725320 [GRCh38]
ChrX:152990775 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) single nucleotide variant Adrenoleukodystrophy [RCV000633480] ChrX:153740155 [GRCh38]
ChrX:153005609 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) single nucleotide variant Adrenoleukodystrophy [RCV000633481] ChrX:153740170 [GRCh38]
ChrX:153005624 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) single nucleotide variant Adrenoleukodystrophy [RCV000633491] ChrX:153743032 [GRCh38]
ChrX:153008486 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) single nucleotide variant Adrenoleukodystrophy [RCV000633492] ChrX:153726142 [GRCh38]
ChrX:152991597 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) single nucleotide variant Adrenoleukodystrophy [RCV001086228]|Inborn genetic diseases [RCV002413815]|not provided [RCV000633497] ChrX:153743257 [GRCh38]
ChrX:153008711 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.110G>T (p.Arg37Leu) single nucleotide variant not provided [RCV000585313] ChrX:153725376 [GRCh38]
ChrX:152990831 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) single nucleotide variant Adrenoleukodystrophy [RCV001087539]|Inborn genetic diseases [RCV002329212]|not provided [RCV000513392] ChrX:153725686 [GRCh38]
ChrX:152991141 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) single nucleotide variant Adrenoleukodystrophy [RCV001800831]|not provided [RCV000627370]|not specified [RCV001001992] ChrX:153726109 [GRCh38]
ChrX:152991564 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) single nucleotide variant Adrenoleukodystrophy [RCV000699602] ChrX:153740583 [GRCh38]
ChrX:153006037 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) single nucleotide variant Adrenoleukodystrophy [RCV001800863]|not provided [RCV000710398] ChrX:153736357 [GRCh38]
ChrX:153001811 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.355G>C (p.Ala119Pro) single nucleotide variant not provided [RCV000710402] ChrX:153725621 [GRCh38]
ChrX:152991076 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) single nucleotide variant Adrenoleukodystrophy [RCV000792616]|not provided [RCV000659184] ChrX:153725967 [GRCh38]
ChrX:152991422 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) single nucleotide variant Adrenoleukodystrophy [RCV001855619]|Inborn genetic diseases [RCV002360702]|not provided [RCV000675190] ChrX:153725966 [GRCh38]
ChrX:152991421 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) single nucleotide variant Adrenoleukodystrophy [RCV001087253]|EBV-positive nodal T- and NK-cell lymphoma [RCV004559341]|not provided [RCV000675194] ChrX:153740622 [GRCh38]
ChrX:153006076 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1225-7_1239del deletion Adrenoleukodystrophy [RCV000758243] ChrX:153736336..153736357 [GRCh38]
ChrX:153001790..153001811 [GRCh37]
ChrX:Xq28		 pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) single nucleotide variant Adrenoleukodystrophy [RCV000960344]|Inborn genetic diseases [RCV002316064] ChrX:153725447 [GRCh38]
ChrX:152990902 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
NM_000033.4(ABCD1):c.1780+25A>G single nucleotide variant not provided [RCV000675197] ChrX:153740744 [GRCh38]
ChrX:153006198 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.359G>A (p.Arg120His) single nucleotide variant Inborn genetic diseases [RCV002316853] ChrX:153725625 [GRCh38]
ChrX:152991080 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) single nucleotide variant Adrenoleukodystrophy [RCV000722143] ChrX:153725586 [GRCh38]
ChrX:152991041 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) single nucleotide variant Adrenoleukodystrophy [RCV000691168] ChrX:153736156 [GRCh38]
ChrX:153001610 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) single nucleotide variant Adrenoleukodystrophy [RCV000692778] ChrX:153726039 [GRCh38]
ChrX:152991494 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) deletion Adrenoleukodystrophy [RCV000697885]|not provided [RCV001592891] ChrX:153725487..153725495 [GRCh38]
ChrX:152990942..152990950 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1866-1G>A single nucleotide variant Adrenoleukodystrophy [RCV000704173] ChrX:153743220 [GRCh38]
ChrX:153008674 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) single nucleotide variant Adrenoleukodystrophy [RCV000710054] ChrX:153736126 [GRCh38]
ChrX:153001580 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) single nucleotide variant Adrenoleukodystrophy [RCV000787041]|not provided [RCV000710404] ChrX:153725919 [GRCh38]
ChrX:152991374 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) deletion Adrenoleukodystrophy [RCV000686459] ChrX:153725411..153725424 [GRCh38]
ChrX:152990866..152990879 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) single nucleotide variant Adrenoleukodystrophy [RCV000690556] ChrX:153740126 [GRCh38]
ChrX:153005580 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) single nucleotide variant Adrenoleukodystrophy [RCV000690849]|not provided [RCV003140090] ChrX:153725848 [GRCh38]
ChrX:152991303 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) duplication Adrenoleukodystrophy [RCV000699233] ChrX:153740598..153740599 [GRCh38]
ChrX:153006052..153006053 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) single nucleotide variant Adrenoleukodystrophy [RCV000700171]|not provided [RCV001288421] ChrX:153725720 [GRCh38]
ChrX:152991175 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) single nucleotide variant Adrenoleukodystrophy [RCV000686557]|Inborn genetic diseases [RCV002422472] ChrX:153743631 [GRCh38]
ChrX:153009085 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) single nucleotide variant Adrenoleukodystrophy [RCV000689892]|not provided [RCV001564691] ChrX:153725718 [GRCh38]
ChrX:152991173 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) single nucleotide variant ABCD1-related disorder [RCV003392549]|Adrenoleukodystrophy [RCV000710055]|not provided [RCV000710400] ChrX:153740137 [GRCh38]
ChrX:153005591 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) single nucleotide variant ABCD1-related disorder [RCV003907963]|Adrenoleukodystrophy [RCV000800638]|not provided [RCV000710399] ChrX:153737211 [GRCh38]
ChrX:153002665 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) single nucleotide variant ABCD1-related disorder [RCV003945729]|Adrenoleukodystrophy [RCV001085515]|Inborn genetic diseases [RCV002317928]|not provided [RCV000710403] ChrX:153725867 [GRCh38]
ChrX:152991322 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) single nucleotide variant ABCD1-related disorder [RCV003420213]|Adrenoleukodystrophy [RCV000685857]|not provided [RCV002267015]|not specified [RCV003994077] ChrX:153740686 [GRCh38]
ChrX:153006140 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) single nucleotide variant Adrenoleukodystrophy [RCV000691696]|not provided [RCV001288420] ChrX:153740702 [GRCh38]
ChrX:153006156 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) single nucleotide variant Adrenoleukodystrophy [RCV000699538]|not provided [RCV001784336] ChrX:153743231 [GRCh38]
ChrX:153008685 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) single nucleotide variant Adrenoleukodystrophy [RCV000707690]|Inborn genetic diseases [RCV002317927]|not specified [RCV001001198] ChrX:153725316 [GRCh38]
ChrX:152990771 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) single nucleotide variant Adrenoleukodystrophy [RCV000685774]|Inborn genetic diseases [RCV004649263] ChrX:153736211 [GRCh38]
ChrX:153001665 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala) single nucleotide variant Adrenoleukodystrophy [RCV000693896] ChrX:153725699 [GRCh38]
ChrX:152991154 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) single nucleotide variant Adrenoleukodystrophy [RCV000696719] ChrX:153740202 [GRCh38]
ChrX:153005656 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) single nucleotide variant Adrenoleukodystrophy [RCV000700507] ChrX:153725904 [GRCh38]
ChrX:152991359 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) single nucleotide variant ABCD1-related disorder [RCV003392550]|Adrenoleukodystrophy [RCV000710056]|not provided [RCV001268534] ChrX:153743333 [GRCh38]
ChrX:153008787 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg) single nucleotide variant not provided [RCV000710401] ChrX:153743038 [GRCh38]
ChrX:153008492 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) single nucleotide variant Adrenoleukodystrophy [RCV001085582]|Inborn genetic diseases [RCV002314578]|not provided [RCV000908342] ChrX:153737218 [GRCh38]
ChrX:153002672 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.1781-5C>G single nucleotide variant Adrenoleukodystrophy [RCV001474566]|Inborn genetic diseases [RCV002314426]|not provided [RCV002263954] ChrX:153742982 [GRCh38]
ChrX:153008436 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=) single nucleotide variant Adrenoleukodystrophy [RCV003512072]|Inborn genetic diseases [RCV002315487] ChrX:153743546 [GRCh38]
ChrX:153009000 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile) single nucleotide variant Adrenoleukodystrophy [RCV002060903]|Inborn genetic diseases [RCV002312772]|not provided [RCV002067013] ChrX:153737207 [GRCh38]
ChrX:153002661 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) single nucleotide variant Adrenoleukodystrophy [RCV001206153]|Inborn genetic diseases [RCV002318878]|not provided [RCV001772021] ChrX:153743304 [GRCh38]
ChrX:153008758 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152932626-153008731)x2 copy number gain not provided [RCV000753923] ChrX:152932626..153008731 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) single nucleotide variant Adrenoleukodystrophy [RCV000853225] ChrX:153729346 [GRCh38]
ChrX:152994801 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) single nucleotide variant Adrenoleukodystrophy [RCV000853228]|not provided [RCV003327470] ChrX:153725688 [GRCh38]
ChrX:152991143 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) single nucleotide variant Adrenoleukodystrophy [RCV000853229]|not provided [RCV003141870] ChrX:153726086 [GRCh38]
ChrX:152991541 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) single nucleotide variant Adrenoleukodystrophy [RCV000872653] ChrX:153726161 [GRCh38]
ChrX:152991616 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln) single nucleotide variant Adrenoleukodystrophy [RCV001580620]|Inborn genetic diseases [RCV002569105]|not specified [RCV004587187] ChrX:153726087 [GRCh38]
ChrX:152991542 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) single nucleotide variant Adrenoleukodystrophy [RCV001580621]|not provided [RCV003883696] ChrX:153725604 [GRCh38]
ChrX:152991059 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.108G>A (p.Val36=) single nucleotide variant Adrenoleukodystrophy [RCV000875300] ChrX:153725374 [GRCh38]
ChrX:152990829 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) single nucleotide variant Adrenoleukodystrophy [RCV000761212] ChrX:153725346 [GRCh38]
ChrX:152990801 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) single nucleotide variant Adrenoleukodystrophy [RCV000761213]|not provided [RCV001784375] ChrX:153725753 [GRCh38]
ChrX:152991208 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) single nucleotide variant Adrenoleukodystrophy [RCV000761214]|not provided [RCV003141740] ChrX:153725859 [GRCh38]
ChrX:152991314 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) single nucleotide variant Adrenoleukodystrophy [RCV000761215]|not provided [RCV004588164] ChrX:153736195 [GRCh38]
ChrX:153001649 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) single nucleotide variant Adrenoleukodystrophy [RCV000761216] ChrX:153736216 [GRCh38]
ChrX:153001670 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) single nucleotide variant Adrenoleukodystrophy [RCV000761217]|Inborn genetic diseases [RCV002397532]|not provided [RCV003141741] ChrX:153740200 [GRCh38]
ChrX:153005654 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) single nucleotide variant Adrenoleukodystrophy [RCV000761218] ChrX:153743328 [GRCh38]
ChrX:153008782 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) duplication Adrenoleukodystrophy [RCV000761219] ChrX:153743506..153743507 [GRCh38]
ChrX:153008960..153008961 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) single nucleotide variant not provided [RCV000762679] ChrX:153726166 [GRCh38]
ChrX:152991621 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) single nucleotide variant Adrenoleukodystrophy [RCV001855714]|not provided [RCV000762680] ChrX:153743706 [GRCh38]
ChrX:153009160 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr) single nucleotide variant Adrenoleukodystrophy [RCV001052076]|not provided [RCV003141983] ChrX:153725529 [GRCh38]
ChrX:152990984 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr) single nucleotide variant Adrenoleukodystrophy [RCV001060280] ChrX:153740617 [GRCh38]
ChrX:153006071 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys) single nucleotide variant Adrenoleukodystrophy [RCV001054987]|Inborn genetic diseases [RCV004649434] ChrX:153729253 [GRCh38]
ChrX:152994708 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) single nucleotide variant Adrenoleukodystrophy [RCV000990973]|not provided [RCV003489996] ChrX:153725607 [GRCh38]
ChrX:152991062 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) single nucleotide variant Adrenoleukodystrophy [RCV000990977] ChrX:153740104 [GRCh38]
ChrX:153005558 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.1082-23C>G single nucleotide variant not provided [RCV001663438] ChrX:153736089 [GRCh38]
ChrX:153001543 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln) single nucleotide variant Adrenoleukodystrophy [RCV001832795]|not provided [RCV001581240] ChrX:153726042 [GRCh38]
ChrX:152991497 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) single nucleotide variant Adrenoleukodystrophy [RCV002536555]|Inborn genetic diseases [RCV004027120]|not provided [RCV000755767] ChrX:153726119 [GRCh38]
ChrX:152991574 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) single nucleotide variant Adrenoleukodystrophy [RCV001165780]|not provided [RCV001532217] ChrX:153725759 [GRCh38]
ChrX:152991214 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) single nucleotide variant ABCD1-related disorder [RCV003948323]|Adrenoleukodystrophy [RCV000882299] ChrX:153726136 [GRCh38]
ChrX:152991591 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) single nucleotide variant Adrenoleukodystrophy [RCV000973857]|not provided [RCV003432976] ChrX:153740232 [GRCh38]
ChrX:153005686 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.189C>G (p.Ala63=) single nucleotide variant Adrenoleukodystrophy [RCV001485236] ChrX:153725455 [GRCh38]
ChrX:152990910 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.321G>A (p.Leu107=) single nucleotide variant Adrenoleukodystrophy [RCV001456051] ChrX:153725587 [GRCh38]
ChrX:152991042 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) single nucleotide variant Adrenoleukodystrophy [RCV000946132] ChrX:153725702 [GRCh38]
ChrX:152991157 [GRCh37]
ChrX:Xq28		 benign
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) single nucleotide variant Adrenoleukodystrophy [RCV000981175] ChrX:153725830 [GRCh38]
ChrX:152991285 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) single nucleotide variant Adrenoleukodystrophy [RCV000892364] ChrX:153743315 [GRCh38]
ChrX:153008769 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) single nucleotide variant Adrenoleukodystrophy [RCV000877935]|Inborn genetic diseases [RCV002336863] ChrX:153725770 [GRCh38]
ChrX:152991225 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) single nucleotide variant Adrenoleukodystrophy [RCV001339930]|not provided [RCV000755765] ChrX:153725790 [GRCh38]
ChrX:152991245 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs) deletion not provided [RCV000755766] ChrX:153740223..153740230 [GRCh38]
ChrX:153005677..153005684 [GRCh37]
ChrX:Xq28		 pathogenic
NM_000033.4(ABCD1):c.1653C>T (p.Gly551=) single nucleotide variant Adrenoleukodystrophy [RCV001505838] ChrX:153740592 [GRCh38]
ChrX:153006046 [GRCh37]
ChrX:Xq28		 likely benign
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr) single nucleotide variant Adrenoleukodystrophy [RCV001050528] ChrX:153740623 [GRCh38]
ChrX:153006077 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg) single nucleotide variant Adrenoleukodystrophy [RCV001038533] ChrX:153740234 [GRCh38]
ChrX:153005688 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys) single nucleotide variant Adrenoleukodystrophy [RCV001051598] ChrX:153743494 [GRCh38]
ChrX:153008948 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro) single nucleotide variant Adrenoleukodystrophy [RCV001063964] ChrX:153736186 [GRCh38]
ChrX:153001640 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) single nucleotide variant Adrenoleukodystrophy [RCV001034913]|not specified [RCV001843369] ChrX:153726162 [GRCh38]
ChrX:152991617 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs) indel Adrenoleukodystrophy [RCV001089938] ChrX:153725883..153725884 [GRCh38]
ChrX:152991338..152991339 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) deletion Adrenoleukodystrophy [RCV001035149] ChrX:153736202..153736205 [GRCh38]
ChrX:153001656..153001659 [GRCh37]