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
Description: Exhibits several functions, including ABC-type fatty-acyl-CoA transporter activity; adenyl ribonucleotide binding activity; and protein homodimerization 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. Localizes to several cellular components, including bounding membrane of organelle; mitochondrial membrane; and perinuclear region of cytoplasm. Implicated in adrenoleukodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
GRCh38.p13 EnsemblX153,724,856 - 153,744,755 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,724,851 - 153,744,755 (+)NCBIGRCh38GRCh38hg38GRCh38
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating fatty-acid concentration  (IAGP)
Abnormality of the brainstem white matter  (IAGP)
Abnormality of the cerebral white matter  (IAGP)
Abnormality of the periventricular white matter  (IAGP)
Alopecia  (IAGP)
Ankle clonus  (IAGP)
Astereognosia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Blindness  (IAGP)
Bowel incontinence  (IAGP)
Bulbar palsy  (IAGP)
Confusion  (IAGP)
Decreased circulating cortisol level  (IAGP)
Dementia  (IAGP)
Difficulty walking  (IAGP)
Diffuse demyelination of the cerebral white matter  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Elevated circulating long chain fatty acid concentration  (IAGP)
Encephalitis  (IAGP)
Episodic vomiting  (IAGP)
Facial myokymia  (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)
Hypogonadism  (IAGP)
Impaired vibration sensation at ankles  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Impotence  (IAGP)
Inability to walk  (IAGP)
Incoordination  (IAGP)
Intellectual disability  (IAGP)
Limb ataxia  (IAGP)
Limb myoclonus  (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)
Neurodegeneration  (IAGP)
Oculomotor apraxia  (IAGP)
Paraparesis  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Polyneuropathy  (IAGP)
Primary adrenal insufficiency  (IAGP)
Progressive  (IAGP)
Psychosis  (IAGP)
Recurrent fever  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Short attention span  (IAGP)
Slurred speech  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Truncal ataxia  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Vegetative state  (IAGP)
Very long chain fatty acid accumulation  (IAGP)
Visual agnosia  (IAGP)
Visual loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

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:15643618   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:29966135   PMID:30021884  
PMID:31073040   PMID:31074578   PMID:31536960   PMID:31586073   PMID:31665121   PMID:32416190   PMID:32918875  


Genomics

Comparative Map Data
ABCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,724,856 - 153,744,755 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,724,851 - 153,744,755 (+)NCBIGRCh38GRCh38hg38GRCh38
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
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 (+)NCBI
Rnor_6.0 EnsemblX157,072,736 - 157,095,274 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X157,073,860 - 157,095,652 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
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
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 EnsemblX124,485,235 - 124,503,195 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,152,697 - 128,171,007 (+)NCBI
Abcd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946421,113 - 439,961 (+)NCBI

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
  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
  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
Sequence:
RefSeq Acc Id: XR_938507
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,724,851 - 153,744,755 (+)NCBI
Sequence:
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
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] ChrX:153725577 [GRCh38]
ChrX:152991032 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1082-1G>A single nucleotide variant 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 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
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]|none provided [RCV001287627] 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.1743_1745CGT[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] 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] ChrX:153726137 [GRCh38]
ChrX:152991592 [GRCh37]
ChrX:Xq28
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]|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 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] ChrX:153736510 [GRCh38]
ChrX:153001964 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) deletion Adrenoleukodystrophy [RCV000012055]|none provided [RCV001282562]|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]|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
ABCD1, 2-BP DEL, 2177TA deletion Adrenoleukodystrophy [RCV000012061] ChrX:Xq28 pathogenic
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) single nucleotide variant Addison's disease [RCV000012062]|Adrenoleukodystrophy [RCV000180094]|not provided [RCV000517966] ChrX:153743023 [GRCh38]
ChrX:153008477 [GRCh37]
ChrX:Xq28
pathogenic
ABCD1, 1-BP DEL, 2204G deletion Addison's disease [RCV000012063] ChrX:Xq28 pathogenic
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) single nucleotide variant Adrenoleukodystrophy [RCV000012064]|none provided [RCV001285953]|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]|none provided [RCV001284826]|not provided [RCV001093003] ChrX:153743055 [GRCh38]
ChrX:153008509 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000033.3(ABCD1):c.874_876delGAG (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
ABCD1, IVS1DS, G-A, -1 single nucleotide variant Adrenoleukodystrophy [RCV000012068] 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.2000_2001AC[3] (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 none provided [RCV001286310]|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]|none provided [RCV001282553]|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 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]|none provided [RCV001282467]|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]|none provided [RCV001287176]|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 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 not provided [RCV000077967] ChrX:153725880 [GRCh38]
ChrX:152991335 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.901-16C>T single nucleotide variant not specified [RCV000077968] ChrX:153729216 [GRCh38]
ChrX:152994671 [GRCh37]
ChrX:Xq28
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]|not specified [RCV000202845] ChrX:153743022 [GRCh38]
ChrX:153008476 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity
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 specified [RCV000203059] ChrX:153743029 [GRCh38]
ChrX:153008483 [GRCh37]
ChrX:Xq28
benign
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]|none provided [RCV001285954]|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|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|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.1114_1116AAG[1] (p.Lys373del) microsatellite 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 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] 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
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] ChrX:153725208 [GRCh38]
ChrX:152990663 [GRCh37]
ChrX:Xq28
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 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|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] 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]|History of neurodevelopmental disorder [RCV000718532]|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]|History of neurodevelopmental disorder [RCV000717388]|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] 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] ChrX:153743016 [GRCh38]
ChrX:153008470 [GRCh37]
ChrX:Xq28
benign|likely benign
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]|History of neurodevelopmental disorder [RCV000717873]|not specified [RCV000517474] ChrX:153725962 [GRCh38]
ChrX:152991417 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[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 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
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.1327G>A (p.Ala443Thr) single nucleotide variant Adrenoleukodystrophy [RCV001279587] ChrX:153736447 [GRCh38]
ChrX:153001901 [GRCh37]
ChrX:Xq28
uncertain significance
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 not provided [RCV000307057] ChrX:153743343 [GRCh38]
ChrX:153008797 [GRCh37]
ChrX:Xq28
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 [RCV001293967]|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] ChrX:153743609 [GRCh38]
ChrX:153009063 [GRCh37]
ChrX:Xq28
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|uncertain significance
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) microsatellite Adrenoleukodystrophy [RCV000633478] ChrX:153725678..153725680 [GRCh38]
ChrX:152991133..152991135 [GRCh37]
ChrX:Xq28
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
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 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]|not provided [RCV000414525] ChrX:153725754 [GRCh38]
ChrX:152991209 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1074_1075AG[1] (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] ChrX:153740129 [GRCh38]
ChrX:153005583 [GRCh37]
ChrX:Xq28
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
likely pathogenic
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) single nucleotide variant Adrenoleukodystrophy [RCV000536329] 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 specified [RCV000437883] ChrX:153725658 [GRCh38]
ChrX:152991113 [GRCh37]
ChrX:Xq28
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
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
uncertain significance
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) single nucleotide variant Adrenoleukodystrophy [RCV001247652]|not provided [RCV000435174] 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]|History of neurodevelopmental disorder [RCV000718531]|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 Adrenoleukodystrophy [RCV000695726]|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 not specified [RCV000426538] ChrX:153743670 [GRCh38]
ChrX:153009124 [GRCh37]
ChrX:Xq28
likely benign
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 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 not provided [RCV000433948] ChrX:153726075 [GRCh38]
ChrX:152991530 [GRCh37]
ChrX:Xq28
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 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
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) single nucleotide variant Adrenoleukodystrophy [RCV000633477]|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 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 none provided [RCV000507458] 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
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) deletion 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]|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 Adrenoleukodystrophy [RCV000633496] ChrX:153743269 [GRCh38]
ChrX:153008723 [GRCh37]
ChrX:Xq28
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 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 specified [RCV001251421] ChrX:153726005 [GRCh38]
ChrX:152991460 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) single nucleotide variant Adrenoleukodystrophy [RCV000633493] ChrX:153743248 [GRCh38]
ChrX:153008702 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) single nucleotide variant Adrenoleukodystrophy [RCV000633498]|History of neurodevelopmental disorder [RCV000718313] 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 Adrenoleukodystrophy [RCV000537259]|History of neurodevelopmental disorder [RCV000716304] 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] ChrX:153740135 [GRCh38]
ChrX:153005589 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) single nucleotide variant Adrenoleukodystrophy [RCV000538578]|not provided [RCV000675196] ChrX:153740711 [GRCh38]
ChrX:153006165 [GRCh37]
ChrX:Xq28
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.144G>A (p.Ala48=) single nucleotide variant 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 Adrenoleukodystrophy [RCV000633494]|History of neurodevelopmental disorder [RCV000719301] 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] ChrX:153725559 [GRCh38]
ChrX:152991014 [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] ChrX:153736381 [GRCh38]
ChrX:153001835 [GRCh37]
ChrX:Xq28
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 Adrenoleukodystrophy [RCV001086974]|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
uncertain significance
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) single nucleotide variant Adrenoleukodystrophy [RCV001086228]|not provided [RCV000633497] ChrX:153743257 [GRCh38]
ChrX:153008711 [GRCh37]
ChrX:Xq28
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]|not provided [RCV000513392] ChrX:153725686 [GRCh38]
ChrX:152991141 [GRCh37]
ChrX:Xq28
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 not provided [RCV000627370]|not specified [RCV001001992] ChrX:153726109 [GRCh38]
ChrX:152991564 [GRCh37]
ChrX:Xq28
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 not provided [RCV000710398] ChrX:153736357 [GRCh38]
ChrX:153001811 [GRCh37]
ChrX:Xq28
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 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]|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]|History of neurodevelopmental disorder [RCV000716680] 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 History of neurodevelopmental disorder [RCV000719756] 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] ChrX:153725487..153725495 [GRCh38]
ChrX:152990942..152990950 [GRCh37]
ChrX:Xq28
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|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] ChrX:153725848 [GRCh38]
ChrX:152991303 [GRCh37]
ChrX:Xq28
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] ChrX:153743631 [GRCh38]
ChrX:153009085 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) single nucleotide variant Adrenoleukodystrophy [RCV000689892] ChrX:153725718 [GRCh38]
ChrX:152991173 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) single nucleotide variant Adrenoleukodystrophy [RCV000710055]|not provided [RCV000710400] ChrX:153740137 [GRCh38]
ChrX:153005591 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) single nucleotide variant Adrenoleukodystrophy [RCV000800638]|not provided [RCV000710399] ChrX:153737211 [GRCh38]
ChrX:153002665 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) single nucleotide variant Adrenoleukodystrophy [RCV001085515]|History of neurodevelopmental disorder [RCV000718913]|not provided [RCV000710403] ChrX:153725867 [GRCh38]
ChrX:152991322 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) single nucleotide variant Adrenoleukodystrophy [RCV000685857] ChrX:153740686 [GRCh38]
ChrX:153006140 [GRCh37]
ChrX:Xq28
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 specified [RCV001002086] 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]|History of neurodevelopmental disorder [RCV000721078]|not specified [RCV001001198] ChrX:153725316 [GRCh38]
ChrX:152990771 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) single nucleotide variant Adrenoleukodystrophy [RCV000685774] ChrX:153736211 [GRCh38]
ChrX:153001665 [GRCh37]
ChrX:Xq28
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 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]|History of neurodevelopmental disorder [RCV000717496]|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 History of neurodevelopmental disorder [RCV000717148] ChrX:153742982 [GRCh38]
ChrX:153008436 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=) single nucleotide variant History of neurodevelopmental disorder [RCV000718574] ChrX:153743546 [GRCh38]
ChrX:153009000 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000716379] ChrX:153737207 [GRCh38]
ChrX:153002661 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) single nucleotide variant Adrenoleukodystrophy [RCV001206153]|History of neurodevelopmental disorder [RCV000721030] 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 Autistic disorder of childhood onset [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] ChrX:153725688 [GRCh38]
ChrX:152991143 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) single nucleotide variant Adrenoleukodystrophy [RCV000853229] 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
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] ChrX:153725753 [GRCh38]
ChrX:152991208 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) single nucleotide variant Adrenoleukodystrophy [RCV000761214] 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] 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] ChrX:153740200 [GRCh38]
ChrX:153005654 [GRCh37]
ChrX:Xq28
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 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] 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] ChrX:153729253 [GRCh38]
ChrX:152994708 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) single nucleotide variant Adrenoleukodystrophy [RCV000990973] ChrX:153725607 [GRCh38]
ChrX:152991062 [GRCh37]
ChrX:Xq28
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
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) single nucleotide variant not provided [RCV000755767] ChrX:153726119 [GRCh38]
ChrX:152991574 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) single nucleotide variant Adrenoleukodystrophy [RCV001165780] ChrX:153725759 [GRCh38]
ChrX:152991214 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) single nucleotide variant Adrenoleukodystrophy [RCV000882299] ChrX:153726136 [GRCh38]
ChrX:152991591 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) single nucleotide variant Adrenoleukodystrophy [RCV000973857] ChrX:153740232 [GRCh38]
ChrX:153005686 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.189C>G (p.Ala63=) single nucleotide variant not provided [RCV000943054] ChrX:153725455 [GRCh38]
ChrX:152990910 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.321G>A (p.Leu107=) single nucleotide variant not provided [RCV000928622] 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] ChrX:153725770 [GRCh38]
ChrX:152991225 [GRCh37]
ChrX:Xq28
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
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 not provided [RCV000882993] 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] 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]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro) single nucleotide variant Adrenoleukodystrophy [RCV001070548] ChrX:153725520 [GRCh38]
ChrX:152990975 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153009199_?)dup duplication Adrenoleukodystrophy [RCV001033211] ChrX:152990712..153009199 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter) single nucleotide variant Adrenoleukodystrophy [RCV001036486] ChrX:153729325 [GRCh38]
ChrX:152994780 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) single nucleotide variant not specified [RCV000779678] ChrX:153737178 [GRCh38]
ChrX:153002632 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152959340)_(153009209_?)del deletion Adrenoleukodystrophy [RCV000805899] ChrX:152959340..153009209 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1489-1G>A single nucleotide variant Adrenoleukodystrophy [RCV000816853] ChrX:153740091 [GRCh38]
ChrX:153005545 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) single nucleotide variant Adrenoleukodystrophy [RCV001088442]|not provided [RCV000828005] ChrX:153743540 [GRCh38]
ChrX:153008994 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) single nucleotide variant Adrenoleukodystrophy [RCV000778893] ChrX:153743334 [GRCh38]
ChrX:153008788 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) single nucleotide variant Adrenoleukodystrophy [RCV000873793] ChrX:153725957 [GRCh38]
ChrX:152991412 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) single nucleotide variant Adrenoleukodystrophy [RCV001079452]|not provided [RCV000876325] ChrX:153743254 [GRCh38]
ChrX:153008708 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq28(chrX:152980470-153032459) copy number loss Adrenoleukodystrophy [RCV000767810] ChrX:152980470..153032459 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) single nucleotide variant Adrenoleukodystrophy [RCV000929641] ChrX:153725680 [GRCh38]
ChrX:152991135 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) single nucleotide variant not provided [RCV000873719] ChrX:153736147 [GRCh38]
ChrX:153001601 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) single nucleotide variant Adrenoleukodystrophy [RCV000886660] ChrX:153736172 [GRCh38]
ChrX:153001626 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.57C>G (p.Ala19=) single nucleotide variant not provided [RCV000975462] ChrX:153725323 [GRCh38]
ChrX:152990778 [GRCh37]
ChrX:Xq28
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) single nucleotide variant Adrenoleukodystrophy [RCV000877360] ChrX:153743576 [GRCh38]
ChrX:153009030 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1536C>G (p.Gly512=) single nucleotide variant not provided [RCV000920377] ChrX:153740139 [GRCh38]
ChrX:153005593 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) single nucleotide variant Adrenoleukodystrophy [RCV000856679] ChrX:153743322 [GRCh38]
ChrX:153008776 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.300C>G (p.Ala100=) single nucleotide variant not provided [RCV000938434] ChrX:153725566 [GRCh38]
ChrX:152991021 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.901-5C>T single nucleotide variant Adrenoleukodystrophy [RCV000874643]|not specified [RCV001000377] ChrX:153729227 [GRCh38]
ChrX:152994682 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) single nucleotide variant Adrenoleukodystrophy [RCV000944371] ChrX:153736365 [GRCh38]
ChrX:153001819 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) single nucleotide variant Adrenoleukodystrophy [RCV000954202] ChrX:153725881 [GRCh38]
ChrX:152991336 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) single nucleotide variant Adrenoleukodystrophy [RCV000980170] ChrX:153743573 [GRCh38]
ChrX:153009027 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) single nucleotide variant Adrenoleukodystrophy [RCV000909922] ChrX:153726061 [GRCh38]
ChrX:152991516 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.483G>A (p.Ser161=) single nucleotide variant not provided [RCV000977672] ChrX:153725749 [GRCh38]
ChrX:152991204 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs) duplication Adrenoleukodystrophy [RCV000793335] ChrX:153736130..153736131 [GRCh38]
ChrX:153001584..153001585 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) single nucleotide variant Adrenoleukodystrophy [RCV000792914] ChrX:153725474 [GRCh38]
ChrX:152990929 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) single nucleotide variant Adrenoleukodystrophy [RCV000804526] ChrX:153725652 [GRCh38]
ChrX:152991107 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) single nucleotide variant Adrenoleukodystrophy [RCV000793854] ChrX:153743685 [GRCh38]
ChrX:153009139 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.(?_153742977)_(153743745_?)del deletion Adrenoleukodystrophy [RCV000823243] ChrX:153742977..153743745 [GRCh38]
ChrX:153008431..153009199 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) single nucleotide variant Adrenoleukodystrophy [RCV000802990] ChrX:153725564 [GRCh38]
ChrX:152991019 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) single nucleotide variant Adrenoleukodystrophy [RCV000798341] ChrX:153725774 [GRCh38]
ChrX:152991229 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg) single nucleotide variant Adrenoleukodystrophy [RCV000824204] ChrX:153725612 [GRCh38]
ChrX:152991067 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) single nucleotide variant Adrenoleukodystrophy [RCV000805426] ChrX:153725781 [GRCh38]
ChrX:152991236 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.(?_153743201)_(153743755_?)del deletion Adrenoleukodystrophy [RCV000812676] ChrX:153743201..153743755 [GRCh38]
ChrX:153008655..153009209 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) duplication Adrenoleukodystrophy [RCV000812366] ChrX:153725495..153725496 [GRCh38]
ChrX:152990950..152990951 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1401G>A (p.Val467=) single nucleotide variant not provided [RCV000976477] ChrX:153737164 [GRCh38]
ChrX:153002618 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) single nucleotide variant Adrenoleukodystrophy [RCV000822259] ChrX:153740576 [GRCh38]
ChrX:153006030 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) single nucleotide variant Adrenoleukodystrophy [RCV000990972] ChrX:153725465 [GRCh38]
ChrX:152990920 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del) deletion Adrenoleukodystrophy [RCV000799162] ChrX:153729316..153729333 [GRCh38]
ChrX:152994771..152994788 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.408del (p.Gln136fs) deletion Adrenoleukodystrophy [RCV000813592] ChrX:153725674 [GRCh38]
ChrX:152991129 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) single nucleotide variant Adrenoleukodystrophy [RCV000817236] ChrX:153725939 [GRCh38]
ChrX:152991394 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) single nucleotide variant Adrenoleukodystrophy [RCV000823464] ChrX:153726060 [GRCh38]
ChrX:152991515 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) single nucleotide variant Adrenoleukodystrophy [RCV000807408] ChrX:153726095 [GRCh38]
ChrX:152991550 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_000033.4(ABCD1):c.1635-1G>A single nucleotide variant Adrenoleukodystrophy [RCV000850151] ChrX:153740573 [GRCh38]
ChrX:153006027 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) single nucleotide variant Adrenoleukodystrophy [RCV000794625] ChrX:153725810 [GRCh38]
ChrX:152991265 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) single nucleotide variant Adrenoleukodystrophy [RCV000990980] ChrX:153743046 [GRCh38]
ChrX:153008500 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) single nucleotide variant Adrenoleukodystrophy [RCV000990982] ChrX:153743495 [GRCh38]
ChrX:153008949 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1A>G (p.Met1Val) single nucleotide variant Adrenoleukodystrophy [RCV001055844] ChrX:153725267 [GRCh38]
ChrX:152990722 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.*287G>A single nucleotide variant Adrenoleukodystrophy [RCV001165850] ChrX:153744022 [GRCh38]
ChrX:153009476 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*409C>G single nucleotide variant Adrenoleukodystrophy [RCV001165853] ChrX:153744144 [GRCh38]
ChrX:153009598 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) single nucleotide variant Adrenoleukodystrophy [RCV000811902] ChrX:153743628 [GRCh38]
ChrX:153009082 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.900+7C>T single nucleotide variant Adrenoleukodystrophy [RCV001167361] ChrX:153726173 [GRCh38]
ChrX:152991628 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) single nucleotide variant Adrenoleukodystrophy [RCV001167363] ChrX:153736122 [GRCh38]
ChrX:153001576 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) single nucleotide variant Adrenoleukodystrophy [RCV001167967] ChrX:153743305 [GRCh38]
ChrX:153008759 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.*805G>C single nucleotide variant Adrenoleukodystrophy [RCV001168038] ChrX:153744540 [GRCh38]
ChrX:153009994 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*476A>G single nucleotide variant Adrenoleukodystrophy [RCV001167426] ChrX:153744211 [GRCh38]
ChrX:153009665 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) single nucleotide variant Adrenoleukodystrophy [RCV000807056] ChrX:153729250 [GRCh38]
ChrX:152994705 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.*969A>G single nucleotide variant Adrenoleukodystrophy [RCV001168814] ChrX:153744704 [GRCh38]
ChrX:153010158 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.723del (p.Trp242fs) deletion Adrenoleukodystrophy [RCV000795935] ChrX:153725988 [GRCh38]
ChrX:152991443 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.(?_153740082)_(153740247_?)del deletion Adrenoleukodystrophy [RCV000800049] ChrX:153740082..153740247 [GRCh38]
ChrX:153005536..153005701 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro) single nucleotide variant Adrenoleukodystrophy [RCV001054555] ChrX:153743303 [GRCh38]
ChrX:153008757 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1991+68_1992-4del deletion Adrenoleukodystrophy [RCV000850185] ChrX:153743408..153743479 [GRCh38]
ChrX:153008862..153008933 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) single nucleotide variant Adrenoleukodystrophy [RCV000824353] ChrX:153743274 [GRCh38]
ChrX:153008728 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) single nucleotide variant Adrenoleukodystrophy [RCV000821703] ChrX:153736187 [GRCh38]
ChrX:153001641 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter) single nucleotide variant Adrenoleukodystrophy [RCV000796458] ChrX:153742990 [GRCh38]
ChrX:153008444 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) deletion Adrenoleukodystrophy [RCV000787038] ChrX:153740229 [GRCh38]
ChrX:153005683 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) single nucleotide variant Adrenoleukodystrophy [RCV000813291] ChrX:153737217 [GRCh38]
ChrX:153002671 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.36del (p.Asn13fs) deletion Adrenoleukodystrophy [RCV000812852] ChrX:153725298 [GRCh38]
ChrX:152990753 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) single nucleotide variant Adrenoleukodystrophy [RCV000824100] ChrX:153726158 [GRCh38]
ChrX:152991613 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) single nucleotide variant Adrenoleukodystrophy [RCV000850177] ChrX:153725787 [GRCh38]
ChrX:152991242 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000033.4(ABCD1):c.*830A>G single nucleotide variant Adrenoleukodystrophy [RCV001168040] ChrX:153744565 [GRCh38]
ChrX:153010019 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) single nucleotide variant Adrenoleukodystrophy [RCV001167362] ChrX:153729275 [GRCh38]
ChrX:152994730 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.*901G>A single nucleotide variant Adrenoleukodystrophy [RCV001168811] ChrX:153744636 [GRCh38]
ChrX:153010090 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*450T>A single nucleotide variant Adrenoleukodystrophy [RCV001165854] ChrX:153744185 [GRCh38]
ChrX:153009639 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) single nucleotide variant Intellectual disability [RCV000850212] ChrX:153726120 [GRCh38]
ChrX:152991575 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_000033.4(ABCD1):c.1670_1671del (p.Val557fs) deletion not provided [RCV001008780] ChrX:153740608..153740609 [GRCh38]
ChrX:153006062..153006063 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln) single nucleotide variant Adrenoleukodystrophy [RCV001054374] ChrX:153729269 [GRCh38]
ChrX:152994724 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly) single nucleotide variant Adrenoleukodystrophy [RCV001055925] ChrX:153726081 [GRCh38]
ChrX:152991536 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) single nucleotide variant Adrenoleukodystrophy [RCV000990975] ChrX:153726144 [GRCh38]
ChrX:152991599 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) single nucleotide variant Adrenoleukodystrophy [RCV000990976] ChrX:153736174 [GRCh38]
ChrX:153001628 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) single nucleotide variant Adrenoleukodystrophy [RCV001226321] ChrX:153726105 [GRCh38]
ChrX:152991560 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) single nucleotide variant Adrenoleukodystrophy [RCV001223848] ChrX:153740614 [GRCh38]
ChrX:153006068 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val) single nucleotide variant Adrenoleukodystrophy [RCV001225791] ChrX:153743307 [GRCh38]
ChrX:153008761 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del) deletion Adrenoleukodystrophy [RCV001237662] ChrX:153740131..153740136 [GRCh38]
ChrX:153005585..153005590 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1742_1781-968del deletion Adrenoleukodystrophy [RCV001231869] ChrX:153740679..153742017 [GRCh38]
ChrX:153006133..153007471 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg) single nucleotide variant Adrenoleukodystrophy [RCV001220804] ChrX:153729358 [GRCh38]
ChrX:152994813 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met) single nucleotide variant Adrenoleukodystrophy [RCV001227000] ChrX:153743575 [GRCh38]
ChrX:153009029 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter) single nucleotide variant Adrenoleukodystrophy [RCV001225015] ChrX:153737177 [GRCh38]
ChrX:153002631 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys) single nucleotide variant Adrenoleukodystrophy [RCV001225016] ChrX:153736228 [GRCh38]
ChrX:153001682 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) single nucleotide variant Adrenoleukodystrophy [RCV001249460]   likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1695del (p.Asp565fs) deletion Adrenoleukodystrophy [RCV001235149] ChrX:153740634 [GRCh38]
ChrX:153006088 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1488+1G>A single nucleotide variant Adrenoleukodystrophy [RCV001218118] ChrX:153737252 [GRCh38]
ChrX:153002706 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg) single nucleotide variant Adrenoleukodystrophy [RCV001210435] ChrX:153743503 [GRCh38]
ChrX:153008957 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.290A>C (p.His97Pro) single nucleotide variant Adrenoleukodystrophy [RCV001240692] ChrX:153725556 [GRCh38]
ChrX:152991011 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn) single nucleotide variant Adrenoleukodystrophy [RCV001213319] ChrX:153725846 [GRCh38]
ChrX:152991301 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro) single nucleotide variant Adrenoleukodystrophy [RCV001219529] ChrX:153725925 [GRCh38]
ChrX:152991380 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) single nucleotide variant Adrenoleukodystrophy [RCV000850157] ChrX:153743499 [GRCh38]
ChrX:153008953 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000033.4(ABCD1):c.1853del (p.Met618fs) deletion Adrenoleukodystrophy [RCV000990981] ChrX:153743059 [GRCh38]
ChrX:153008513 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.2000_2001AC[5] (p.Leu670fs) microsatellite not provided [RCV000996043] ChrX:153743495..153743496 [GRCh38]
ChrX:153008949..153008950 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.900+2T>G single nucleotide variant Adrenoleukodystrophy [RCV001195762] ChrX:153726168 [GRCh38]
ChrX:152991623 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val) single nucleotide variant Adrenoleukodystrophy [RCV001052508] ChrX:153740581 [GRCh38]
ChrX:153006035 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) single nucleotide variant Adrenoleukodystrophy [RCV001250535] ChrX:153729323 [GRCh38]
ChrX:152994778 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter) single nucleotide variant Adrenoleukodystrophy [RCV001062117] ChrX:153743718 [GRCh38]
ChrX:153009172 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) single nucleotide variant Adrenoleukodystrophy [RCV001218702] ChrX:153740171 [GRCh38]
ChrX:153005625 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser) single nucleotide variant Adrenoleukodystrophy [RCV001230399] ChrX:153743028 [GRCh38]
ChrX:153008482 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1781-7C>T single nucleotide variant Adrenoleukodystrophy [RCV000973918] ChrX:153742980 [GRCh38]
ChrX:153008434 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.64C>T (p.Leu22=) single nucleotide variant not provided [RCV000885370] ChrX:153725330 [GRCh38]
ChrX:152990785 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) single nucleotide variant Adrenoleukodystrophy [RCV000941031] ChrX:153726085 [GRCh38]
ChrX:152991540 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) single nucleotide variant Adrenoleukodystrophy [RCV000883605] ChrX:153740184 [GRCh38]
ChrX:153005638 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.117C>T (p.Cys39=) single nucleotide variant not provided [RCV000977410] ChrX:153725383 [GRCh38]
ChrX:152990838 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly) single nucleotide variant not provided [RCV000931098] ChrX:153725742 [GRCh38]
ChrX:152991197 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter) single nucleotide variant Adrenoleukodystrophy [RCV000855404] ChrX:153736249 [GRCh38]
ChrX:153001703 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1488+9A>G single nucleotide variant not provided [RCV000953122] ChrX:153737260 [GRCh38]
ChrX:153002714 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) single nucleotide variant Adrenoleukodystrophy [RCV000941450] ChrX:153736122 [GRCh38]
ChrX:153001576 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.357C>T (p.Ala119=) single nucleotide variant not provided [RCV000928618] ChrX:153725623 [GRCh38]
ChrX:152991078 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.420C>T (p.Ile140=) single nucleotide variant not provided [RCV000915069] ChrX:153725686 [GRCh38]
ChrX:152991141 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1257G>A (p.Val419=) single nucleotide variant not provided [RCV000977496] ChrX:153736377 [GRCh38]
ChrX:153001831 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) single nucleotide variant Adrenoleukodystrophy [RCV000876378] ChrX:153729276 [GRCh38]
ChrX:152994731 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000033.4(ABCD1):c.1992-8C>T single nucleotide variant not provided [RCV000932192] ChrX:153743481 [GRCh38]
ChrX:153008935 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg) single nucleotide variant Adrenoleukodystrophy [RCV001214145] ChrX:153725844 [GRCh38]
ChrX:152991299 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro) single nucleotide variant Adrenoleukodystrophy [RCV001218948] ChrX:153740623 [GRCh38]
ChrX:153006077 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val) single nucleotide variant Adrenoleukodystrophy [RCV001236161] ChrX:153726147 [GRCh38]
ChrX:152991602 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp) single nucleotide variant Adrenoleukodystrophy [RCV001069371] ChrX:153725708 [GRCh38]
ChrX:152991163 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) single nucleotide variant Adrenoleukodystrophy [RCV001223136] ChrX:153725677 [GRCh38]
ChrX:152991132 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg) single nucleotide variant Adrenoleukodystrophy [RCV001230853] ChrX:153743254 [GRCh38]
ChrX:153008708 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) single nucleotide variant Adrenoleukodystrophy [RCV001227564] ChrX:153725805 [GRCh38]
ChrX:152991260 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*334C>G single nucleotide variant Adrenoleukodystrophy [RCV001165851] ChrX:153744069 [GRCh38]
ChrX:153009523 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1529del (p.Gly510fs) deletion Adrenoleukodystrophy [RCV001055117] ChrX:153740131 [GRCh38]
ChrX:153005585 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro) single nucleotide variant Adrenoleukodystrophy [RCV001053476] ChrX:153729274 [GRCh38]
ChrX:152994729 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.(?_153736102)_(153743745_?)del deletion Adrenoleukodystrophy [RCV001031260] ChrX:153001556..153009199 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.(?_153736102)_(153743735_?)del deletion Adrenoleukodystrophy [RCV001031289] ChrX:153001556..153009189 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys) single nucleotide variant History of neurodevelopmental disorder [RCV001172269] ChrX:153729341 [GRCh38]
ChrX:152994796 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn) single nucleotide variant Adrenoleukodystrophy [RCV001237757] ChrX:153725927 [GRCh38]
ChrX:152991382 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg) single nucleotide variant Adrenoleukodystrophy [RCV001057299] ChrX:153740137 [GRCh38]
ChrX:153005591 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) single nucleotide variant Adrenoleukodystrophy [RCV001058584] ChrX:153736373 [GRCh38]
ChrX:153001827 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*621C>T single nucleotide variant Adrenoleukodystrophy [RCV001167427] ChrX:153744356 [GRCh38]
ChrX:153009810 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*767C>T single nucleotide variant Adrenoleukodystrophy [RCV001167428] ChrX:153744502 [GRCh38]
ChrX:153009956 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu) single nucleotide variant Adrenoleukodystrophy [RCV001066031] ChrX:153725796 [GRCh38]
ChrX:152991251 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) single nucleotide variant Adrenoleukodystrophy [RCV000935452] ChrX:153740682 [GRCh38]
ChrX:153006136 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) single nucleotide variant Adrenoleukodystrophy [RCV000934257] ChrX:153736348 [GRCh38]
ChrX:153001802 [GRCh37]
ChrX:Xq28
likely benign
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) deletion Adrenoleukodystrophy [RCV000990978] ChrX:153740675..153740683 [GRCh38]
ChrX:153006129..153006137 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) deletion none provided [RCV001286912]|not provided [RCV001008779] ChrX:153736479 [GRCh38]
ChrX:153001933 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1933del (p.Gln645fs) deletion not provided [RCV001008624] ChrX:153743287 [GRCh38]
ChrX:153008741 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) single nucleotide variant Adrenoleukodystrophy [RCV001090088] ChrX:153740231 [GRCh38]
ChrX:153005685 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) single nucleotide variant Adrenoleukodystrophy [RCV001090114] ChrX:153726105 [GRCh38]
ChrX:152991560 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile) single nucleotide variant Adrenoleukodystrophy [RCV001253241] ChrX:153743262 [GRCh38]
ChrX:153008716 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.*831G>T single nucleotide variant Adrenoleukodystrophy [RCV001168041] ChrX:153744566 [GRCh38]
ChrX:153010020 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1463_1465TGG[2] (p.Val490del) microsatellite not specified [RCV001002582] ChrX:153737224..153737226 [GRCh38]
ChrX:153002678..153002680 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1527T>A (p.Asn509Lys) single nucleotide variant not provided [RCV001171651] ChrX:153740130 [GRCh38]
ChrX:153005584 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu) single nucleotide variant Adrenoleukodystrophy [RCV001070251] ChrX:153726063 [GRCh38]
ChrX:152991518 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr) single nucleotide variant Adrenoleukodystrophy [RCV001198968] ChrX:153729352 [GRCh38]
ChrX:152994807 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro) single nucleotide variant Adrenoleukodystrophy [RCV001218447] ChrX:153740111 [GRCh38]
ChrX:153005565 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser) single nucleotide variant Adrenoleukodystrophy [RCV001206383] ChrX:153726053 [GRCh38]
ChrX:152991508 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg) single nucleotide variant Adrenoleukodystrophy [RCV001236749] ChrX:153740180 [GRCh38]
ChrX:153005634 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) single nucleotide variant Adrenoleukodystrophy [RCV001039824] ChrX:153736202 [GRCh38]
ChrX:153001656 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr) single nucleotide variant Adrenoleukodystrophy [RCV001048143] ChrX:153743496 [GRCh38]
ChrX:153008950 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.483del (p.Phe162fs) deletion Adrenoleukodystrophy [RCV001235837] ChrX:153725749 [GRCh38]
ChrX:152991204 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.768C>T (p.Asn256=) single nucleotide variant Adrenoleukodystrophy [RCV001167360] ChrX:153726034 [GRCh38]
ChrX:152991489 [GRCh37]
ChrX:Xq28
benign
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter) single nucleotide variant Adrenoleukodystrophy [RCV001093621]   pathogenic
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp) single nucleotide variant Adrenoleukodystrophy [RCV001041034] ChrX:153729359 [GRCh38]
ChrX:152994814 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro) single nucleotide variant Adrenoleukodystrophy [RCV001041737] ChrX:153743316 [GRCh38]
ChrX:153008770 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.*802G>T single nucleotide variant Adrenoleukodystrophy [RCV001168037] ChrX:153744537 [GRCh38]
ChrX:153009991 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His) single nucleotide variant Adrenoleukodystrophy [RCV001247886] ChrX:153740607 [GRCh38]
ChrX:153006061 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val) single nucleotide variant Adrenoleukodystrophy [RCV001043116] ChrX:153740218 [GRCh38]
ChrX:153005672 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del) deletion Adrenoleukodystrophy [RCV001043120] ChrX:153726087..153726095 [GRCh38]
ChrX:152991542..152991550 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*911G>A single nucleotide variant Adrenoleukodystrophy [RCV001168812] ChrX:153744646 [GRCh38]
ChrX:153010100 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*948C>T single nucleotide variant Adrenoleukodystrophy [RCV001168813] ChrX:153744683 [GRCh38]
ChrX:153010137 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.*980T>C single nucleotide variant Adrenoleukodystrophy [RCV001168815] ChrX:153744715 [GRCh38]
ChrX:153010169 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.181G>C (p.Ala61Pro) single nucleotide variant not provided [RCV001093001] ChrX:153725447 [GRCh38]
ChrX:152990902 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) single nucleotide variant Adrenoleukodystrophy [RCV001245742]|not provided [RCV001093002] ChrX:153725474 [GRCh38]
ChrX:152990929 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro) single nucleotide variant Adrenoleukodystrophy [RCV001035623] ChrX:153736192 [GRCh38]
ChrX:153001646 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser) single nucleotide variant Adrenoleukodystrophy [RCV001044072] ChrX:153726119 [GRCh38]
ChrX:152991574 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1081+1G>A single nucleotide variant Adrenoleukodystrophy [RCV001045481] ChrX:153729413 [GRCh38]
ChrX:152994868 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.22C>A (p.Arg8=) single nucleotide variant Adrenoleukodystrophy [RCV001165779] ChrX:153725288 [GRCh38]
ChrX:152990743 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.*360C>T single nucleotide variant Adrenoleukodystrophy [RCV001165852] ChrX:153744095 [GRCh38]
ChrX:153009549 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.(?_153736092)_(153743755_?)del deletion Adrenoleukodystrophy [RCV001032810] ChrX:153001546..153009209 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.(?_152954010)_(153141311_?)dup duplication Creatine transporter deficiency [RCV001033780] ChrX:152954010..153141311 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.805G>A (p.Val269Met) single nucleotide variant Adrenoleukodystrophy [RCV001212280] ChrX:153726071 [GRCh38]
ChrX:152991526 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) single nucleotide variant Adrenoleukodystrophy [RCV001035803] ChrX:153726140 [GRCh38]
ChrX:152991595 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser) single nucleotide variant Adrenoleukodystrophy [RCV001249461] ChrX:153729352 [GRCh38]
ChrX:152994807 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del) deletion Adrenoleukodystrophy [RCV001036673] ChrX:153740676..153740690 [GRCh38]
ChrX:153006130..153006144 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000033.4(ABCD1):c.*825C>T single nucleotide variant Adrenoleukodystrophy [RCV001168039] ChrX:153744560 [GRCh38]
ChrX:153010014 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.847C>G (p.His283Asp) single nucleotide variant Adrenoleukodystrophy [RCV001041848] ChrX:153726113 [GRCh38]
ChrX:152991568 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr) single nucleotide variant Adrenoleukodystrophy [RCV001204546] ChrX:153743247 [GRCh38]
ChrX:153008701 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup) duplication Adrenoleukodystrophy [RCV001250797] ChrX:153743312..153743313 [GRCh38]
ChrX:153008766..153008767 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) single nucleotide variant Adrenoleukodystrophy [RCV001252970] ChrX:153725745 [GRCh38]
ChrX:152991200 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.10dup (p.Leu4fs) duplication Adrenoleukodystrophy [RCV001253262] ChrX:153725275..153725276 [GRCh38]
ChrX:152990730..152990731 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter) single nucleotide variant Adrenoleukodystrophy [RCV001253021] ChrX:153740707 [GRCh38]
ChrX:153006161 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.347G>A (p.Gly116Glu) single nucleotide variant not specified [RCV001251255] ChrX:153725613 [GRCh38]
ChrX:152991068 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.524_526del (p.Phe175del) deletion Adrenoleukodystrophy [RCV001253401] ChrX:153725788..153725790 [GRCh38]
ChrX:152991243..152991245 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn) single nucleotide variant Adrenoleukodystrophy [RCV001253465] ChrX:153737247 [GRCh38]
ChrX:153002701 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_000033.4(ABCD1):c.1667A>T (p.Gln556Leu) single nucleotide variant not provided [RCV001268292] ChrX:153740606 [GRCh38]
ChrX:153006060 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1045del (p.Val349fs) deletion not provided [RCV001268675] ChrX:153729376 [GRCh38]
ChrX:152994831 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) single nucleotide variant not provided [RCV001268905] ChrX:153725296 [GRCh38]
ChrX:152990751 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.1670T>G (p.Val557Gly) single nucleotide variant not provided [RCV001268921] ChrX:153740609 [GRCh38]
ChrX:153006063 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met) indel Adrenoleukodystrophy [RCV001261538]   likely pathogenic
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) single nucleotide variant Adrenoleukodystrophy [RCV001260592] ChrX:153726117 [GRCh38]
ChrX:152991572 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) single nucleotide variant Adrenoleukodystrophy [RCV001279585] ChrX:153729384 [GRCh38]
ChrX:152994839 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152941302-153055639)x3 copy number gain not provided [RCV001260060] ChrX:152941302..153055639 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del) microsatellite Adrenoleukodystrophy [RCV001263478] ChrX:153726014..153726016 [GRCh38]
ChrX:152991469..152991471 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala) single nucleotide variant Adrenoleukodystrophy [RCV001339153] ChrX:153736366 [GRCh38]
ChrX:153001820 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) single nucleotide variant Adrenoleukodystrophy [RCV001289556] ChrX:153725951 [GRCh38]
ChrX:152991406 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu) single nucleotide variant Adrenoleukodystrophy [RCV001290134] ChrX:153725589 [GRCh38]
ChrX:152991044 [GRCh37]
ChrX:Xq28
pathogenic
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly) single nucleotide variant Adrenoleukodystrophy [RCV001327376] ChrX:153729236 [GRCh38]
ChrX:152994691 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) single nucleotide variant Adrenoleukodystrophy [RCV001307498] ChrX:153743026 [GRCh38]
ChrX:153008480 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln) single nucleotide variant Adrenoleukodystrophy [RCV001279586] ChrX:153736380 [GRCh38]
ChrX:153001834 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg) single nucleotide variant Adrenoleukodystrophy [RCV001279588] ChrX:153740645 [GRCh38]
ChrX:153006099 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe) single nucleotide variant Adrenoleukodystrophy [RCV001330913] ChrX:153729286 [GRCh38]
ChrX:152994741 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) single nucleotide variant Adrenoleukodystrophy [RCV001346480] ChrX:153743584 [GRCh38]
ChrX:153009038 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr) single nucleotide variant Adrenoleukodystrophy [RCV001320062] ChrX:153743330 [GRCh38]
ChrX:153008784 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu) single nucleotide variant Adrenoleukodystrophy [RCV001346548] ChrX:153725866 [GRCh38]
ChrX:152991321 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val) single nucleotide variant Adrenoleukodystrophy [RCV001306698] ChrX:153726096 [GRCh38]
ChrX:152991551 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del) deletion Adrenoleukodystrophy [RCV001309696] ChrX:153725519..153725545 [GRCh38]
ChrX:152990974..152991000 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu) single nucleotide variant Adrenoleukodystrophy [RCV001323120] ChrX:153736379 [GRCh38]
ChrX:153001833 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn) single nucleotide variant Adrenoleukodystrophy [RCV001342918] ChrX:153725864 [GRCh38]
ChrX:152991319 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile) single nucleotide variant Adrenoleukodystrophy [RCV001330910] ChrX:153740120 [GRCh38]
ChrX:153005574 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn) single nucleotide variant Adrenoleukodystrophy [RCV001330911] ChrX:153743267 [GRCh38]
ChrX:153008721 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr) single nucleotide variant Adrenoleukodystrophy [RCV001330912] ChrX:153743569 [GRCh38]
ChrX:153009023 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1488+5G>C single nucleotide variant Adrenoleukodystrophy [RCV001317478] ChrX:153737256 [GRCh38]
ChrX:153002710 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg) single nucleotide variant Adrenoleukodystrophy [RCV001340427] ChrX:153736367 [GRCh38]
ChrX:153001821 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn) single nucleotide variant Adrenoleukodystrophy [RCV001350840] ChrX:153740620 [GRCh38]
ChrX:153006074 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000033.4(ABCD1):c.1849C>G (p.Arg617Gly) single nucleotide variant not provided [RCV001291582] ChrX:153743055 [GRCh38]
ChrX:153008509 [GRCh37]
ChrX:Xq28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:61 AgrOrtholog
COSMIC ABCD1 COSMIC
Ensembl Genes ENSG00000101986 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218104 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359147 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218104 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370129 UniProtKB/TrEMBL
GTEx ENSG00000101986 GTEx
HGNC ID HGNC:61 ENTREZGENE
Human Proteome Map ABCD1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot
  ABC_transporter-like UniProtKB/Swiss-Prot
  ABC_transporter_CS UniProtKB/Swiss-Prot
  ABCD2 UniProtKB/TrEMBL
  ALDP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FA_transporter UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:215 UniProtKB/Swiss-Prot
NCBI Gene 215 ENTREZGENE
OMIM 300100 OMIM
  300371 OMIM
PANTHER PTHR11384:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11384:SF24 UniProtKB/TrEMBL
Pfam ABC_membrane_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot
PharmGKB PA24396 PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot
TIGRFAMs 3a01203 UniProtKB/Swiss-Prot
UniProt A6NEP8_HUMAN UniProtKB/TrEMBL
  ABCD1_HUMAN UniProtKB/Swiss-Prot
  L8E9C7_HUMAN UniProtKB/TrEMBL
  P33897 ENTREZGENE
  Q2PRN6_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q6GTZ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCD1  ATP binding cassette subfamily D member 1  ABCD1  ATP-binding cassette, sub-family D (ALD), member 1  Symbol and/or name change 5135510 APPROVED