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 ABC-type fatty-acyl-CoA transporter activity; ATP hydrolysis activity; and adenyl ribonucleotide binding 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. Is integral component of peroxisomal membrane. 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 Genes
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.p13 EnsemblX153,724,856 - 153,744,755 (+)EnsemblGRCh38hg38GRCh38
GRCh37X152,990,311 - 153,010,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,643,530 - 152,663,375 (+)NCBINCBI36hg18NCBI36
Build 34X152,511,182 - 152,531,028NCBI
CeleraX153,224,004 - 153,243,898 (+)NCBI
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 (+)NCBI
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 cerebral white matter morphology  (IAGP)
Abnormal circulating fatty-acid concentration  (IAGP)
Abnormal libido  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormality of central somatosensory evoked potentials  (IAGP)
Abnormality of the brainstem white matter  (IAGP)
Abnormality of the nervous system  (IAGP)
Adducted thumb  (IAGP)
Adrenocortical abnormality  (IAGP)
Adrenocorticotropic hormone excess  (IAGP)
Aganglionic megacolon  (IAGP)
Alopecia  (IAGP)
Ankle clonus  (IAGP)
Astereognosia  (IAGP)
Atrophy of the spinal cord  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Axonal degeneration  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Behavioral abnormality  (IAGP)
Blindness  (IAGP)
Bowel incontinence  (IAGP)
Brain imaging abnormality  (IAGP)
Bulbar palsy  (IAGP)
Cerebral dysmyelination  (IAGP)
Confusion  (IAGP)
Constipation  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased circulating cortisol level  (IAGP)
Dementia  (IAGP)
Diarrhea  (IAGP)
Difficulty walking  (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)
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 motor deficit  (IAGP)
Generalized hyperreflexia  (IAGP)
Global brain atrophy  (IAGP)
Hamstring contractures  (IAGP)
Hearing impairment  (IAGP)
Hemiparesis  (IAGP)
Hoffmann sign  (IAGP)
Hyperactivity  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Impaired vibration sensation at ankles  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Impotence  (IAGP)
Inability to walk  (IAGP)
Incoordination  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Intra-oral hyperpigmentation  (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)
Memory impairment  (IAGP)
Mental deterioration  (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 neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Polyneuropathy  (IAGP)
Primary adrenal insufficiency  (IAGP)
Progressive  (IAGP)
Progressive spastic paraparesis  (IAGP)
Psychosis  (IAGP)
Recurrent fever  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Slurred speech  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Splenomegaly  (IAGP)
Truncal ataxia  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary retention  (IAGP)
Urinary urgency  (IAGP)
Vegetative state  (IAGP)
Very long chain fatty acid accumulation  (IAGP)
Visual agnosia  (IAGP)
Visual loss  (IAGP)
Vitamin B12 deficiency  (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:35676282  


Genomics

Comparative Map Data
ABCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,724,856 - 153,744,755 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX153,724,856 - 153,744,755 (+)EnsemblGRCh38hg38GRCh38
GRCh37X152,990,311 - 153,010,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,643,530 - 152,663,375 (+)NCBINCBI36hg18NCBI36
Build 34X152,511,182 - 152,531,028NCBI
CeleraX153,224,004 - 153,243,898 (+)NCBI
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 (+)NCBI
Abcd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,760,203 - 72,782,140 (+)NCBIGRCm39mm39
GRCm39 EnsemblX72,760,203 - 72,782,140 (+)Ensembl
GRCm38X73,716,597 - 73,738,534 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,716,597 - 73,738,534 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,961,936 - 70,983,626 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X69,969,317 - 69,991,007 (+)NCBImm8
CeleraX64,970,295 - 64,991,971 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.39NCBI
Abcd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,428,334 - 151,450,115 (+)NCBImRatBN7.2
mRatBN7.2 EnsemblX151,428,578 - 151,450,115 (+)Ensembl
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 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1X153,162,412 - 153,182,424 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,162,412 - 153,182,424 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,275,165 - 143,295,283 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0X124,687,215 - 124,707,872 (+)NCBI
ROS_Cfam_1.0 EnsemblX124,687,201 - 124,705,644 (+)Ensembl
UMICH_Zoey_3.1X120,456,646 - 120,477,290 (+)NCBI
UNSW_CanFamBas_1.0X122,971,670 - 122,992,305 (+)NCBI
UU_Cfam_GSD_1.0X122,733,767 - 122,754,413 (+)NCBI
Abcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,877,295 - 118,896,851 (+)NCBI
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 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606566,018,682 - 66,038,332 (+)NCBIVero_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_1.0hetGla2
HetGla 1.0NW_004624946421,113 - 439,961 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
UniSTS:99200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,990,572 - 152,990,659UniSTSGRCh37
Build 36X152,643,766 - 152,643,853RGDNCBI36
CeleraX153,224,253 - 153,224,340RGD
HuRefX141,647,828 - 141,647,915UniSTS
GDB:376683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,002,612 - 153,002,692UniSTSGRCh37
Build 36X152,655,806 - 152,655,886RGDNCBI36
CeleraX153,236,294 - 153,236,374RGD
Cytogenetic MapXq28UniSTS
HuRefX141,659,875 - 141,659,955UniSTS
GDB:511618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,991,221 - 152,991,340UniSTSGRCh37
Build 36X152,644,415 - 152,644,534RGDNCBI36
CeleraX153,224,902 - 153,225,021RGD
Cytogenetic MapXq28UniSTS
HuRefX141,648,477 - 141,648,596UniSTS
GDB:523970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,990,639 - 152,991,175UniSTSGRCh37
Build 36X152,643,833 - 152,644,369RGDNCBI36
CeleraX153,224,320 - 153,224,856RGD
Cytogenetic MapXq28UniSTS
HuRefX141,647,895 - 141,648,431UniSTS
GDB:524010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,990,639 - 152,991,156UniSTSGRCh37
Build 36X152,643,833 - 152,644,350RGDNCBI36
CeleraX153,224,320 - 153,224,837RGD
Cytogenetic MapXq28UniSTS
HuRefX141,647,895 - 141,648,412UniSTS
G65802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,004,177 - 153,005,118UniSTSGRCh37
Build 36X152,657,371 - 152,658,312RGDNCBI36
CeleraX153,237,859 - 153,238,800RGD
Cytogenetic MapXq28UniSTS
HuRefX141,661,440 - 141,662,381UniSTS
G67205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,997,684 - 152,998,652UniSTSGRCh37
Build 36X152,650,878 - 152,651,846RGDNCBI36
CeleraX153,231,365 - 153,232,333RGD
Cytogenetic MapXq28UniSTS
G67214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,000,278 - 153,001,196UniSTSGRCh37
Build 36X152,653,472 - 152,654,390RGDNCBI36
CeleraX153,233,960 - 153,234,878RGD
Cytogenetic MapXq28UniSTS
HuRefX141,657,541 - 141,658,459UniSTS
GDB:524013  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:524016  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:524019  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:524020  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:524023  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:572900  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:376627  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:376680  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1545
Count of miRNA genes:836
Interacting mature miRNAs:970
Transcripts:ENST00000218104, ENST00000370129, ENST00000443684
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1848 1719 1103 176 1010 156 2362 1429 862 218 1136 1040 32 1006 1597 3
Low 583 1265 620 446 934 308 1993 764 2844 200 314 568 139 198 1191 2
Below cutoff 1 1 1 9 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AY421736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY421737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY421738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ305405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z21876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218104   ⟹   ENSP00000218104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,724,856 - 153,744,755 (+)Ensembl
RefSeq Acc Id: ENST00000370129   ⟹   ENSP00000359147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,725,817 - 153,729,897 (+)Ensembl
RefSeq Acc Id: ENST00000443684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,735,344 - 153,740,604 (+)Ensembl
RefSeq Acc Id: NM_000033   ⟹   NP_000024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,856 - 153,744,755 (+)NCBI
GRCh37X152,990,323 - 153,010,216 (+)ENTREZGENE
Build 36X152,643,530 - 152,663,375 (+)NCBI Archive
HuRefX141,647,579 - 141,667,479 (+)ENTREZGENE
CHM1_1X152,864,732 - 152,884,627 (+)NCBI
T2T-CHM13v2.0X151,998,519 - 152,018,419 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441916   ⟹   XP_047297872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,856 - 153,744,755 (+)NCBI
RefSeq Acc Id: XM_047441917   ⟹   XP_047297873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,856 - 153,740,710 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000024   ⟸   NM_000033
- UniProtKB: P33897 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359147   ⟸   ENST00000370129
RefSeq Acc Id: ENSP00000218104   ⟸   ENST00000218104
RefSeq Acc Id: XP_047297872   ⟸   XM_047441916
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297873   ⟸   XM_047441917
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P33897-F1-model_v2 AlphaFold P33897 1-745 view protein structure

Promoters
RGD ID:6808690
Promoter ID:HG_KWN:68552
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370129,   NM_000033,   NM_001139441,   NM_001139457,   NM_005745,   NR_024450,   OTTHUMT00000061074,   OTTHUMT00000061075,   OTTHUMT00000061076,   OTTHUMT00000061077,   OTTHUMT00000061079
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,641,471 - 152,645,157 (+)MPROMDB
RGD ID:13628514
Promoter ID:EPDNEW_H29495
Type:initiation region
Name:ABCD1_1
Description:ATP binding cassette subfamily D member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,856 - 153,724,916EPDNEW

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]|History of neurodevelopmental disorder [RCV000716209] 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 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] ChrX:153743698 [GRCh38]
ChrX:153009152 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) single nucleotide variant Adrenoleukodystrophy [RCV000633489] ChrX:153743500 [GRCh38]
ChrX:153008954 [GRCh37]
ChrX:Xq28
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]|not provided [RCV001529574] ChrX:153736454 [GRCh38]
ChrX:153001908 [GRCh37]
ChrX:Xq28
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]|not provided [RCV001781248] 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] 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] 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]|X-linked spondyloepimetaphyseal dysplasia [RCV001358196]|not provided [RCV000723479] ChrX:153726062 [GRCh38]
ChrX:152991517 [GRCh37]
ChrX:Xq28
pathogenic
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
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 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
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
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
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) single nucleotide variant Adrenoleukodystrophy [RCV000012068] ChrX:153726166 [GRCh38]
ChrX:152991621 [GRCh37]
ChrX:Xq28
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
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]|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 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 not provided [RCV000173621] ChrX:153743487 [GRCh38]
ChrX:153008941 [GRCh37]
ChrX:Xq28
pathogenic
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]|History of neurodevelopmental disorder [RCV000715716]|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
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]|not provided [RCV000723625] ChrX:153740618 [GRCh38]
ChrX:153006072 [GRCh37]
ChrX:Xq28
pathogenic
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 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]|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 not provided [RCV000077963] ChrX:153725612 [GRCh38]
ChrX:152991067 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) single nucleotide variant 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
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 not provided [RCV000173050] ChrX:153726016 [GRCh38]
ChrX:152991471 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) single nucleotide variant Adrenoleukodystrophy [RCV000395710]|History of neurodevelopmental disorder [RCV000716972]|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 not provided [RCV000173623] ChrX:153743474 [GRCh38]
ChrX:153008928 [GRCh37]
ChrX:Xq28
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 provided [RCV001781608]|not specified [RCV000202845] ChrX:153743022 [GRCh38]
ChrX:153008476 [GRCh37]
ChrX:Xq28
likely pathogenic|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 Adrenoleukodystrophy [RCV000602068]|History of neurodevelopmental disorder [RCV000716044]|not provided [RCV000675195]|not specified [RCV000202951] ChrX:153740683 [GRCh38]
ChrX:153006137 [GRCh37]
ChrX:Xq28
benign
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|uncertain significance
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) single nucleotide variant Adrenoleukodystrophy [RCV000608121]|History of neurodevelopmental disorder [RCV000716049]|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]|History of neurodevelopmental disorder [RCV000715827]|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|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 Adrenoleukodystrophy [RCV001085784]|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] 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]|History of neurodevelopmental disorder [RCV000717126]|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