PLP1 (proteolipid protein 1) - Rat Genome Database

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Gene: PLP1 (proteolipid protein 1) Homo sapiens
Analyze
Symbol: PLP1
Name: proteolipid protein 1
RGD ID: 732304
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in substantia nigra development. Localizes to plasma membrane. Implicated in Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GPM6C; HLD1; lipophilin; major myelin proteolipid protein; MMPL; myelin proteolipid protein; PLP; PLP/DM20; PMD; proteolipid protein; proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated); SPG2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX103,773,718 - 103,792,619 (+)EnsemblGRCh38hg38GRCh38
GRCh38X103,776,506 - 103,792,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,031,434 - 103,047,548 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,918,410 - 102,934,204 (+)NCBINCBI36hg18NCBI36
Build 34X102,837,898 - 102,853,690NCBI
CeleraX103,470,449 - 103,486,558 (+)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,687,547 - 92,703,609 (+)NCBIHuRef
CHM1_1X102,924,421 - 102,940,535 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-Dioxo-6-nitro-7-sulfamoylbenzo(f)quinoxaline  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
AMPA receptor agonist  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
capsaicin  (ISO)
carbofuran  (ISO)
carbon nanotube  (ISO)
clozapine  (ISO)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cycloheximide  (ISO)
cytarabine  (EXP)
dabigatran  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (EXP,ISO)
etoposide  (EXP)
fenvalerate  (ISO)
genistein  (EXP)
haloperidol  (ISO)
hydrazine  (ISO)
hydrogen sulfide  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
linagliptin  (ISO)
mechlorethamine  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
nickel atom  (EXP)
olanzapine  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
paraquat  (ISO)
PCB138  (ISO)
phencyclidine  (ISO)
phenylmercury acetate  (EXP)
progesterone  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
undecane  (ISO)
valproic acid  (EXP)
warfarin  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal morphology of musculature of pharynx  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Absent speech  (IAGP)
Anomia  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Babinski sign  (IAGP)
Bowel incontinence  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral dysmyelination  (IAGP)
Cerebral hypomyelination  (IAGP)
Choreoathetosis  (IAGP)
CNS hypomyelination  (IAGP)
Cognitive impairment  (IAGP)
Confluent hyperintensity of cerebral white matter on MRI  (IAGP)
Congenital laryngeal stridor  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased vigilance  (IAGP)
Deeply set eye  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Dystonic gait  (IAGP)
EEG with abnormally slow frequencies  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand apraxia  (IAGP)
Head titubation  (IAGP)
Head tremor  (IAGP)
Hearing impairment  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Juvenile onset  (IAGP)
Laryngeal stridor  (IAGP)
Limitation of joint mobility  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Macrogyria  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild global developmental delay  (IAGP)
Moderate global developmental delay  (IAGP)
Muscle weakness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Nasogastric tube feeding  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nevus flammeus of the forehead  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Orofacial dyskinesia  (IAGP)
Pendular nystagmus  (IAGP)
Peripheral demyelination  (IAGP)
Pes cavus  (IAGP)
Poor head control  (IAGP)
Progressive spastic paraplegia  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Psychomotor deterioration  (IAGP)
Pulmonary embolism  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduction of oligodendroglia  (IAGP)
Respiratory failure  (IAGP)
Rotary nystagmus  (IAGP)
Scanning speech  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensory neuropathy  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Spastic gait  (IAGP)
Spastic paraparesis  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic/hyperactive bladder  (IAGP)
Spasticity  (IAGP)
Spinocerebellar tract degeneration  (IAGP)
Sudanophilic leukodystrophy  (IAGP)
Titubation  (IAGP)
Tremor  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1376553   PMID:1376966   PMID:1384324   PMID:1707231   PMID:1708672   PMID:1709135   PMID:1711121   PMID:1715570   PMID:1720927   PMID:2441695   PMID:2449536   PMID:2467009  
PMID:2479017   PMID:2480601   PMID:2773936   PMID:3457761   PMID:3467339   PMID:3768366   PMID:3827224   PMID:3840606   PMID:4041237   PMID:6083474   PMID:6201756   PMID:7522741  
PMID:7531827   PMID:7539213   PMID:7541731   PMID:7573159   PMID:7574457   PMID:7679906   PMID:7683951   PMID:7684886   PMID:7684945   PMID:8012387   PMID:8659540   PMID:8696336  
PMID:8723686   PMID:8765335   PMID:8780101   PMID:8786077   PMID:8909455   PMID:8956049   PMID:8987820   PMID:9008538   PMID:9056547   PMID:9143933   PMID:9247276   PMID:9489796  
PMID:9633722   PMID:9634530   PMID:9728768   PMID:9747038   PMID:9788732   PMID:9858696   PMID:9894878   PMID:9934976   PMID:10203813   PMID:10319897   PMID:10417279   PMID:10520936  
PMID:10767322   PMID:10827108   PMID:10878666   PMID:11071483   PMID:11093273   PMID:11761472   PMID:11786921   PMID:11872612   PMID:11956232   PMID:12107410   PMID:12196561   PMID:12237860  
PMID:12297985   PMID:12325077   PMID:12477932   PMID:12491939   PMID:12601703   PMID:12805210   PMID:14702039   PMID:15009677   PMID:15450775   PMID:15489334   PMID:15627202   PMID:15689360  
PMID:15694262   PMID:15712223   PMID:15753308   PMID:15772651   PMID:15837131   PMID:16130097   PMID:16287154   PMID:16344560   PMID:16374829   PMID:16380909   PMID:16416265   PMID:16774974  
PMID:17171701   PMID:17420921   PMID:17438221   PMID:17500595   PMID:17962415   PMID:18190592   PMID:18437021   PMID:18470932   PMID:18555697   PMID:18604471   PMID:19024090   PMID:19151366  
PMID:19244236   PMID:19328639   PMID:19376225   PMID:19396823   PMID:19562355   PMID:19825935   PMID:19955111   PMID:20036320   PMID:20186781   PMID:20301334   PMID:20301361   PMID:20301682  
PMID:20629189   PMID:20885931   PMID:21082496   PMID:21127064   PMID:21177054   PMID:21516116   PMID:21573057   PMID:21623770   PMID:21679407   PMID:21873635   PMID:22343157   PMID:22511562  
PMID:22695888   PMID:22750001   PMID:22902553   PMID:22926577   PMID:23142642   PMID:23344956   PMID:23347225   PMID:23711321   PMID:23771846   PMID:24019930   PMID:24103481   PMID:24501781  
PMID:24519770   PMID:24623722   PMID:24857611   PMID:24890387   PMID:25416956   PMID:25491635   PMID:25640309   PMID:25749076   PMID:25910212   PMID:25930075   PMID:26311781   PMID:26329556  
PMID:26871637   PMID:26960425   PMID:27793435   PMID:27864734   PMID:27917626   PMID:28130959   PMID:28173160   PMID:28298427   PMID:28366443   PMID:28514442   PMID:28735559   PMID:29298733  
PMID:29435918   PMID:29478609   PMID:29486744   PMID:29683207   PMID:30094605   PMID:30242727   PMID:30337681   PMID:31184779   PMID:32296183   PMID:32973782  


Genomics

Comparative Map Data
PLP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX103,773,718 - 103,792,619 (+)EnsemblGRCh38hg38GRCh38
GRCh38X103,776,506 - 103,792,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,031,434 - 103,047,548 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,918,410 - 102,934,204 (+)NCBINCBI36hg18NCBI36
Build 34X102,837,898 - 102,853,690NCBI
CeleraX103,470,449 - 103,486,558 (+)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,687,547 - 92,703,609 (+)NCBIHuRef
CHM1_1X102,924,421 - 102,940,535 (+)NCBICHM1_1
Plp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X135,720,897 - 135,739,331 (+)NCBIGRCm39mm39
GRCm39 EnsemblX135,723,420 - 135,740,482 (+)Ensembl
GRCm38X136,820,148 - 136,838,582 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX136,822,671 - 136,839,733 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X133,357,375 - 133,372,282 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X132,169,200 - 132,184,107 (+)NCBImm8
CeleraX120,104,727 - 120,119,592 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX59.1NCBI
Plp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X100,184,039 - 100,201,035 (+)NCBI
Rnor_6.0 EnsemblX107,496,072 - 107,511,348 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X107,494,326 - 107,511,355 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X107,379,831 - 107,394,881 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X124,488,627 - 124,503,639 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X124,562,059 - 124,577,072 (+)NCBI
CeleraX101,020,110 - 101,035,276 (+)NCBICelera
Cytogenetic MapXq32NCBI
Plp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955548781,015 - 797,935 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955548781,522 - 797,246 (+)NCBIChiLan1.0ChiLan1.0
PLP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X103,353,181 - 103,412,513 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX103,353,184 - 103,412,513 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X93,015,098 - 93,031,193 (+)NCBIMhudiblu_PPA_v0panPan3
PLP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X77,191,112 - 77,207,772 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX77,191,150 - 77,205,964 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX63,420,093 - 63,434,914 (+)NCBI
ROS_Cfam_1.0X78,808,649 - 78,825,317 (+)NCBI
UMICH_Zoey_3.1X76,287,255 - 76,302,076 (+)NCBI
UNSW_CanFamBas_1.0X77,974,000 - 77,988,806 (+)NCBI
UU_Cfam_GSD_1.0X77,741,107 - 77,755,923 (+)NCBI
Plp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X77,107,149 - 77,123,012 (+)NCBI
SpeTri2.0NW_00493649910,534,953 - 10,553,411 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX84,665,925 - 84,695,533 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X84,676,627 - 84,683,517 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X98,648,731 - 98,655,621 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X91,671,535 - 91,687,693 (+)NCBI
ChlSab1.1 EnsemblX91,671,878 - 91,687,878 (+)Ensembl
Vero_WHO_p1.0NW_02366606516,533,357 - 16,552,347 (+)NCBI
Plp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624954135,065 - 150,911 (-)NCBI

Position Markers
GDB:192494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,031,430 - 103,031,514UniSTSGRCh37
Build 36X102,918,086 - 102,918,170RGDNCBI36
CeleraX103,470,440 - 103,470,524RGD
Cytogenetic MapXq22UniSTS
HuRefX92,687,538 - 92,687,622UniSTS
SHGC-83004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,036,618 - 103,036,888UniSTSGRCh37
Build 36X102,923,274 - 102,923,544RGDNCBI36
CeleraX103,475,629 - 103,475,899RGD
Cytogenetic MapXq22UniSTS
HuRefX92,692,725 - 92,692,995UniSTS
TNG Radiation Hybrid MapX21670.0UniSTS
GDB:195175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,030,985 - 103,031,268UniSTSGRCh37
Build 36X102,917,641 - 102,917,924RGDNCBI36
CeleraX103,469,995 - 103,470,278RGD
Cytogenetic MapXq22UniSTS
HuRefX92,687,093 - 92,687,376UniSTS
GDB:370833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,045,542 - 103,046,571UniSTSGRCh37
Build 36X102,932,198 - 102,933,227RGDNCBI36
CeleraX103,484,553 - 103,485,581RGD
Cytogenetic MapXq22UniSTS
HuRefX92,701,604 - 92,702,632UniSTS
PMC311008P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,040,566 - 103,041,513UniSTSGRCh37
Build 36X102,927,222 - 102,928,169RGDNCBI36
CeleraX103,479,576 - 103,480,523RGD
Cytogenetic MapXq22UniSTS
HuRefX92,696,508 - 92,697,455UniSTS
PLP1_1059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,046,430 - 103,047,178UniSTSGRCh37
Build 36X102,933,086 - 102,933,834RGDNCBI36
CeleraX103,485,441 - 103,486,188RGD
HuRefX92,702,492 - 92,703,239UniSTS
SHGC-63459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,046,925 - 103,047,029UniSTSGRCh37
Build 36X102,933,581 - 102,933,685RGDNCBI36
CeleraX103,485,935 - 103,486,039RGD
Cytogenetic MapXq22UniSTS
HuRefX92,702,986 - 92,703,090UniSTS
DXS8149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,046,863 - 103,046,975UniSTSGRCh37
Build 36X102,933,519 - 102,933,631RGDNCBI36
CeleraX103,485,873 - 103,485,985RGD
Cytogenetic MapXq22UniSTS
HuRefX92,702,924 - 92,703,036UniSTS
Whitehead-RH MapX271.5UniSTS
DXS9790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,045,729 - 103,045,830UniSTSGRCh37
Build 36X102,932,385 - 102,932,486RGDNCBI36
CeleraX103,484,740 - 103,484,841RGD
Cytogenetic MapXq22UniSTS
HuRefX92,701,791 - 92,701,892UniSTS
GeneMap99-G3 RH MapX3205.0UniSTS
PHKA2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,041,159 - 103,041,314UniSTSGRCh37
Build 36X102,927,815 - 102,927,970RGDNCBI36
CeleraX103,480,169 - 103,480,324RGD
HuRefX92,697,101 - 92,697,256UniSTS
D4Ulb4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,640,961 - 3,641,264UniSTSGRCh37
GRCh371174,111,462 - 74,111,553UniSTSGRCh37
Celera173,652,655 - 3,652,958UniSTS
Celera1171,418,327 - 71,418,418UniSTS
HuRef933,091,172 - 33,091,283UniSTS
HuRef10114,708,416 - 114,708,789UniSTS
HuRef173,531,148 - 3,531,451UniSTS
MARC_4943-4944:991939012:3  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRefX92,703,002 - 92,703,416UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6427
Count of miRNA genes:1175
Interacting mature miRNAs:1529
Transcripts:ENST00000303958, ENST00000361621, ENST00000418604, ENST00000422393, ENST00000429977, ENST00000433491, ENST00000434483, ENST00000443502, ENST00000455268, ENST00000461231, ENST00000464776, ENST00000465975, ENST00000466486, ENST00000476160, ENST00000478642, ENST00000479569, ENST00000480325, ENST00000485688, ENST00000485931, ENST00000494119, ENST00000494475, ENST00000495678, ENST00000496836
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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 visual system adipose tissue appendage entire extraembryonic component
High 1 1 1 29 878 26
Medium 1681 492 78 20 88 3 1320 884 2496 19 699 46 18 125 807
Low 573 1945 1182 252 451 107 2685 940 288 101 508 1066 145 1037 1671
Below cutoff 59 519 302 220 892 221 315 329 51 153 93 278 2 1 42 284 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_016452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI205189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV731932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ717999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ723748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX445448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA389667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA299940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC342197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC342996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB387051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M17085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M54927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S55837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z73964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000422393   ⟹   ENSP00000413931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,775,545 - 103,786,655 (+)Ensembl
RefSeq Acc Id: ENST00000433491   ⟹   ENSP00000393391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,506 - 103,786,575 (+)Ensembl
RefSeq Acc Id: ENST00000434483   ⟹   ENSP00000403335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,773,718 - 103,786,641 (+)Ensembl
RefSeq Acc Id: ENST00000443502   ⟹   ENSP00000391853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,618 - 103,786,608 (+)Ensembl
RefSeq Acc Id: ENST00000455268   ⟹   ENSP00000409802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,775,472 - 103,786,682 (+)Ensembl
RefSeq Acc Id: ENST00000461231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,786,063 - 103,789,385 (+)Ensembl
RefSeq Acc Id: ENST00000464776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,874 - 103,786,583 (+)Ensembl
RefSeq Acc Id: ENST00000465975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,874 - 103,786,947 (+)Ensembl
RefSeq Acc Id: ENST00000466486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,787,509 - 103,790,789 (+)Ensembl
RefSeq Acc Id: ENST00000476160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,786,063 - 103,786,837 (+)Ensembl
RefSeq Acc Id: ENST00000478642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,786,061 - 103,788,460 (+)Ensembl
RefSeq Acc Id: ENST00000479569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,781,153 - 103,787,969 (+)Ensembl
RefSeq Acc Id: ENST00000480325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,917 - 103,785,977 (+)Ensembl
RefSeq Acc Id: ENST00000485688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,786,035 - 103,790,593 (+)Ensembl
RefSeq Acc Id: ENST00000485931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,918 - 103,786,990 (+)Ensembl
RefSeq Acc Id: ENST00000494119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,787,799 - 103,788,834 (+)Ensembl
RefSeq Acc Id: ENST00000494475   ⟹   ENSP00000480409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,774,385 - 103,786,683 (+)Ensembl
RefSeq Acc Id: ENST00000495678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,779,965 - 103,786,553 (+)Ensembl
RefSeq Acc Id: ENST00000496836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,788,907 - 103,790,582 (+)Ensembl
RefSeq Acc Id: ENST00000612423   ⟹   ENSP00000481006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,511 - 103,792,616 (+)Ensembl
RefSeq Acc Id: ENST00000619236   ⟹   ENSP00000477619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,850 - 103,792,619 (+)Ensembl
RefSeq Acc Id: ENST00000619257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,874 - 103,786,639 (+)Ensembl
RefSeq Acc Id: ENST00000621218   ⟹   ENSP00000484450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,776,840 - 103,792,619 (+)Ensembl
RefSeq Acc Id: NM_000533   ⟹   NP_000524
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,840 - 103,792,619 (+)NCBI
GRCh37X103,031,439 - 103,047,548 (+)ENTREZGENE
GRCh37X103,031,439 - 103,047,548 (+)NCBI
Build 36X102,918,410 - 102,934,204 (+)NCBI Archive
HuRefX92,687,547 - 92,703,609 (+)ENTREZGENE
CHM1_1X102,924,709 - 102,940,535 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128834   ⟹   NP_001122306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,506 - 103,792,619 (+)NCBI
GRCh37X103,031,439 - 103,047,548 (+)NCBI
HuRefX92,687,547 - 92,703,609 (+)ENTREZGENE
CHM1_1X102,924,421 - 102,940,535 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001305004   ⟹   NP_001291933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,853 - 103,792,619 (+)NCBI
CHM1_1X102,924,769 - 102,940,535 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199478   ⟹   NP_955772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,840 - 103,792,619 (+)NCBI
GRCh37X103,031,439 - 103,047,548 (+)ENTREZGENE
Build 36X102,918,410 - 102,934,204 (+)NCBI Archive
HuRefX92,687,547 - 92,703,609 (+)ENTREZGENE
CHM1_1X102,924,709 - 102,940,535 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000524 (Get FASTA)   NCBI Sequence Viewer  
  NP_001122306 (Get FASTA)   NCBI Sequence Viewer  
  NP_001291933 (Get FASTA)   NCBI Sequence Viewer  
  NP_955772 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59565 (Get FASTA)   NCBI Sequence Viewer  
  AAA60117 (Get FASTA)   NCBI Sequence Viewer  
  AAA60118 (Get FASTA)   NCBI Sequence Viewer  
  AAA60350 (Get FASTA)   NCBI Sequence Viewer  
  AAB26927 (Get FASTA)   NCBI Sequence Viewer  
  AAB26928 (Get FASTA)   NCBI Sequence Viewer  
  AAD13880 (Get FASTA)   NCBI Sequence Viewer  
  AAH02665 (Get FASTA)   NCBI Sequence Viewer  
  AAH95452 (Get FASTA)   NCBI Sequence Viewer  
  AAV38408 (Get FASTA)   NCBI Sequence Viewer  
  AAV38409 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33719 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33720 (Get FASTA)   NCBI Sequence Viewer  
  BAA02577 (Get FASTA)   NCBI Sequence Viewer  
  BAA04110 (Get FASTA)   NCBI Sequence Viewer  
  BAF85417 (Get FASTA)   NCBI Sequence Viewer  
  BAG35261 (Get FASTA)   NCBI Sequence Viewer  
  BAG58333 (Get FASTA)   NCBI Sequence Viewer  
  BAG58342 (Get FASTA)   NCBI Sequence Viewer  
  CAA07364 (Get FASTA)   NCBI Sequence Viewer  
  CAA47050 (Get FASTA)   NCBI Sequence Viewer  
  CAG38779 (Get FASTA)   NCBI Sequence Viewer  
  EAW54690 (Get FASTA)   NCBI Sequence Viewer  
  EAW54691 (Get FASTA)   NCBI Sequence Viewer  
  EAW54692 (Get FASTA)   NCBI Sequence Viewer  
  EAW54693 (Get FASTA)   NCBI Sequence Viewer  
  EAW54694 (Get FASTA)   NCBI Sequence Viewer  
  P60201 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001122306   ⟸   NM_001128834
- Peptide Label: isoform 1
- UniProtKB: P60201 (UniProtKB/Swiss-Prot),   A8K9L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000524   ⟸   NM_000533
- Peptide Label: isoform 1
- UniProtKB: P60201 (UniProtKB/Swiss-Prot),   A8K9L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955772   ⟸   NM_199478
- Peptide Label: isoform 2
- UniProtKB: P60201 (UniProtKB/Swiss-Prot),   A8K9L3 (UniProtKB/TrEMBL),   A0A0S2Z4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291933   ⟸   NM_001305004
- Peptide Label: isoform 3
- UniProtKB: P60201 (UniProtKB/Swiss-Prot),   A8K9L3 (UniProtKB/TrEMBL),   B4DI30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000484450   ⟸   ENST00000621218
RefSeq Acc Id: ENSP00000480409   ⟸   ENST00000494475
RefSeq Acc Id: ENSP00000409802   ⟸   ENST00000455268
RefSeq Acc Id: ENSP00000481006   ⟸   ENST00000612423
RefSeq Acc Id: ENSP00000391853   ⟸   ENST00000443502
RefSeq Acc Id: ENSP00000393391   ⟸   ENST00000433491
RefSeq Acc Id: ENSP00000477619   ⟸   ENST00000619236
RefSeq Acc Id: ENSP00000403335   ⟸   ENST00000434483
RefSeq Acc Id: ENSP00000413931   ⟸   ENST00000422393

Promoters
RGD ID:6850482
Promoter ID:EP73032
Type:initiation region
Name:HS_PLP1
Description:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spasticparaplegia 2, uncomplicated).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X102,918,458 - 102,918,518EPD
RGD ID:13627742
Promoter ID:EPDNEW_H29147
Type:initiation region
Name:PLP1_1
Description:proteolipid protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29145  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,840 - 103,776,900EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000533.5(PLP1):c.332A>C (p.Lys111Thr) single nucleotide variant not provided [RCV000523335] ChrX:103786605 [GRCh38]
ChrX:103041534 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh38/hg38 Xq22.2(chrX:103778816-104033500)x3 copy number gain See cases [RCV000133904] ChrX:103778816..104033500 [GRCh38]
ChrX:103033744..103288063 [GRCh37]
ChrX:102920400..103174719 [NCBI36]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.789C>A (p.Tyr263Ter) single nucleotide variant not provided [RCV000516802] ChrX:103790553 [GRCh38]
ChrX:103045481 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011822]|not provided [RCV000079100] ChrX:103788460 [GRCh38]
ChrX:103043389 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011823]|not provided [RCV000079097] ChrX:103787831 [GRCh38]
ChrX:103042760 [GRCh37]
ChrX:Xq22.2
pathogenic|likely pathogenic
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011824] ChrX:103785621 [GRCh38]
ChrX:103040550 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.467C>T (p.Thr156Ile) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011825] ChrX:103787811 [GRCh38]
ChrX:103042740 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011826] ChrX:103788469 [GRCh38]
ChrX:103043398 [GRCh37]
ChrX:Xq22.2
pathogenic
PLP1, DEL deletion Pelizaeus-Merzbacher disease [RCV000011827] ChrX:Xq22 pathogenic
NM_000533.5(PLP1):c.544A>C (p.Thr182Pro) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011828] ChrX:103787888 [GRCh38]
ChrX:103042817 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011829] ChrX:103788485 [GRCh38]
ChrX:103043414 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.607G>C (p.Asp203His) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011830] ChrX:103787951 [GRCh38]
ChrX:103042880 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011831] ChrX:103786493 [GRCh38]
ChrX:103041422 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.661G>T (p.Gly221Cys) single nucleotide variant Pelizaeus-Merzbacher disease, connatal [RCV000011832] ChrX:103788475 [GRCh38]
ChrX:103043404 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.418C>T (p.His140Tyr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000011833] ChrX:103786691 [GRCh38]
ChrX:103041620 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000011834] ChrX:103787904 [GRCh38]
ChrX:103042833 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011835] ChrX:103785705 [GRCh38]
ChrX:103040634 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.3G>A (p.Met1Ile) single nucleotide variant Pelizaeus-Merzbacher disease, mild [RCV000011836] ChrX:103776998 [GRCh38]
ChrX:103031926 [GRCh37]
ChrX:Xq22.2
pathogenic
PLP1, -34C-T, 5-PRIME UTR single nucleotide variant Pelizaeus-Merzbacher disease, mild [RCV000011837] ChrX:Xq22 pathogenic|uncertain significance
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000011838] ChrX:103789346 [GRCh38]
ChrX:103044275 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000801130]|Pelizaeus-Merzbacher disease, atypical [RCV000011839] ChrX:103786707 [GRCh38]
ChrX:103041636 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.725C>T (p.Ala242Val) single nucleotide variant Pelizaeus-Merzbacher disease, connatal [RCV000011840] ChrX:103789361 [GRCh38]
ChrX:103044290 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.509C>T (p.Ser170Phe) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000011841] ChrX:103787853 [GRCh38]
ChrX:103042782 [GRCh37]
ChrX:Xq22.2
pathogenic
PLP1, DUP duplication Pelizaeus-Merzbacher disease [RCV000011842] ChrX:Xq22 pathogenic
NM_000533.5(PLP1):c.762+3G>T single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011843] ChrX:103789401 [GRCh38]
ChrX:103044330 [GRCh37]
ChrX:Xq22.2
pathogenic
PLP1, IVS3DS, T-C, +2 single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011844] ChrX:Xq22 pathogenic
NM_000533.5(PLP1):c.453+4A>G single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011845] ChrX:103786730 [GRCh38]
ChrX:103041659 [GRCh37]
ChrX:Xq22.2
pathogenic
PLP1, IVS3, 19-BP DEL, +28 deletion Pelizaeus-Merzbacher disease, atypical [RCV000011846] ChrX:Xq22 pathogenic
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000011847] ChrX:103786682 [GRCh38]
ChrX:103041611 [GRCh37]
ChrX:Xq22.2
pathogenic|uncertain significance
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011848] ChrX:103785746 [GRCh38]
ChrX:103040675 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.689C>G (p.Thr230Arg) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000543384] ChrX:103788503 [GRCh38]
ChrX:103043432 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_001128834.2(PLP1):c.5-4238G>A single nucleotide variant Lung cancer [RCV000102130] ChrX:103781344 [GRCh38]
ChrX:103036272 [GRCh37]
ChrX:Xq22.2
uncertain significance
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 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 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 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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0 copy number loss See cases [RCV000051717] ChrX:103350604..104513304 [GRCh38]
ChrX:102605532..103757985 [GRCh37]
ChrX:102492188..103644641 [NCBI36]
ChrX:Xq22.2-22.3
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 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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
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
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
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000660227] ChrX:103787862 [GRCh38]
ChrX:103042791 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.609T>C (p.Asp203=) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001079548]|History of neurodevelopmental disorder [RCV000715359]|not provided [RCV000710178]|not specified [RCV000079098] ChrX:103787953 [GRCh38]
ChrX:103042882 [GRCh37]
ChrX:Xq22.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000533.5(PLP1):c.622+5G>A single nucleotide variant not provided [RCV000079099] ChrX:103787971 [GRCh38]
ChrX:103042900 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.683G>A (p.Cys228Tyr) single nucleotide variant not provided [RCV000079101] ChrX:103788497 [GRCh38]
ChrX:103043426 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000794114]|not provided [RCV000079102] ChrX:103789373 [GRCh38]
ChrX:103044302 [GRCh37]
ChrX:Xq22.2
pathogenic|likely pathogenic
NM_000533.5(PLP1):c.168A>G (p.Gln56=) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001082437]|History of neurodevelopmental disorder [RCV000715934]|not provided [RCV000712769]|not specified [RCV000117996] ChrX:103785745 [GRCh38]
ChrX:103040674 [GRCh37]
ChrX:Xq22.2
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.650G>A (p.Gly217Asp) single nucleotide variant not provided [RCV000171442] ChrX:103788464 [GRCh38]
ChrX:103043393 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.670C>A (p.Leu224Ile) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001331309] ChrX:103788484 [GRCh38]
ChrX:103043413 [GRCh37]
ChrX:Xq22.2
likely 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)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: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: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 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 Xq22.2(chrX:103350804-104033500)x2 copy number gain See cases [RCV000133951] ChrX:103350804..104033500 [GRCh38]
ChrX:102605732..103288063 [GRCh37]
ChrX:102492388..103174719 [NCBI36]
ChrX:Xq22.2
pathogenic
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
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 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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
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 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 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 Xq22.2(chrX:103602874-103832685)x2 copy number gain See cases [RCV000136659] ChrX:103602874..103832685 [GRCh38]
ChrX:102857802..103087615 [GRCh37]
ChrX:102744458..102974271 [NCBI36]
ChrX:Xq22.2
pathogenic|likely benign
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 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 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 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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
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
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 Xq21.1-28(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 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 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 Xq22.2(chrX:103404405-103913265)x2 copy number gain See cases [RCV000138964] ChrX:103404405..103913265 [GRCh38]
ChrX:102659333..103167860 [GRCh37]
ChrX:102545989..103054516 [NCBI36]
ChrX:Xq22.2
pathogenic
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq22.2(chrX:103772099-104048812)x3 copy number gain See cases [RCV000139706] ChrX:103772099..104048812 [GRCh38]
ChrX:103027027..103303380 [GRCh37]
ChrX:102913683..103190036 [NCBI36]
ChrX:Xq22.2
pathogenic
GRCh38/hg38 Xq22.2(chrX:103602874-103881017)x2 copy number gain See cases [RCV000141403] ChrX:103602874..103881017 [GRCh38]
ChrX:102857802..103135921 [GRCh37]
ChrX:102744458..103022577 [NCBI36]
ChrX:Xq22.2
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
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 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 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 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
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: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
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
NM_000533.5(PLP1):c.607G>A (p.Asp203Asn) single nucleotide variant not provided [RCV000255035] ChrX:103787951 [GRCh38]
ChrX:103042880 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.762+2T>C single nucleotide variant not provided [RCV000255182] ChrX:103789400 [GRCh38]
ChrX:103044329 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.602G>T (p.Cys201Phe) single nucleotide variant not provided [RCV000178115] ChrX:103787946 [GRCh38]
ChrX:103042875 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.718T>C (p.Phe240Leu) single nucleotide variant not provided [RCV000179320] ChrX:103789354 [GRCh38]
ChrX:103044283 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.453+1G>C single nucleotide variant not provided [RCV000579221] ChrX:103786727 [GRCh38]
ChrX:103041656 [GRCh37]
ChrX:Xq22.2
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 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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.1A>G (p.Met1Val) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000191119] ChrX:103776996 [GRCh38]
ChrX:103031924 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001331308]|Pelizaeus-Merzbacher disease [RCV001197987]|not provided [RCV001311093]|not specified [RCV000192345] ChrX:103785626 [GRCh38]
ChrX:103040555 [GRCh37]
ChrX:Xq22.2
uncertain significance
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_000533.5(PLP1):c.-31C>T single nucleotide variant Hereditary spastic paraplegia 2 [RCV000204678]|Pelizaeus-Merzbacher disease [RCV001258262]|not provided [RCV000514040] ChrX:103776965 [GRCh38]
ChrX:103031893 [GRCh37]
ChrX:Xq22.2
benign|likely benign
NM_000533.5(PLP1):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000203805] ChrX:103776997 [GRCh38]
ChrX:103031925 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
NM_000533.5(PLP1):c.388C>T (p.His130Tyr) single nucleotide variant not provided [RCV000223963] ChrX:103786661 [GRCh38]
ChrX:103041590 [GRCh37]
ChrX:Xq22.2
likely 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 Xq22.2(chrX:102774255-103167770)x3 copy number gain See cases [RCV000240011] ChrX:102774255..103167770 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-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
GRCh37/hg19 Xq22.2(chrX:103031174-103046823)x0 copy number loss See cases [RCV000239927] ChrX:103031174..103046823 [GRCh37]
ChrX:Xq22.2
pathogenic
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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.622+15G>A single nucleotide variant not specified [RCV000251692] ChrX:103787981 [GRCh38]
ChrX:103042910 [GRCh37]
ChrX:Xq22.2
likely benign
NM_000533.5(PLP1):c.191+1G>A single nucleotide variant not provided [RCV000255963] ChrX:103785769 [GRCh38]
ChrX:103040698 [GRCh37]
ChrX:Xq22.2
pathogenic
NC_000023.10:g.(?_103031918)_(103045531_?)dup duplication Hereditary spastic paraplegia 2 [RCV000258055] ChrX:103031918..103045531 [GRCh37]
ChrX:Xq22.2
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
NM_000533.5(PLP1):c.191+1G>T single nucleotide variant not provided [RCV000355888] ChrX:103785769 [GRCh38]
ChrX:103040698 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.453G>A (p.Lys151=) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000691268]|not provided [RCV000380260] ChrX:103786726 [GRCh38]
ChrX:103041655 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.739G>A (p.Ala247Thr) single nucleotide variant not provided [RCV000398751] ChrX:103789375 [GRCh38]
ChrX:103044304 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.673del (p.Leu225fs) deletion not provided [RCV000260719] ChrX:103788487 [GRCh38]
ChrX:103043416 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000590967] ChrX:103787961 [GRCh38]
ChrX:103042890 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) single nucleotide variant Intellectual disability [RCV001257698]|Pelizaeus-Merzbacher disease [RCV000656398] ChrX:103788472 [GRCh38]
ChrX:103043401 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.453+2T>C single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011844]|not provided [RCV000598719] ChrX:103786728 [GRCh38]
ChrX:103041657 [GRCh37]
ChrX:Xq22.2
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000533.5(PLP1):c.415_418delinsAGT (p.Cys139fs) indel Hereditary spastic paraplegia 2 [RCV000640482] ChrX:103786688..103786691 [GRCh38]
ChrX:103041617..103041620 [GRCh37]
ChrX:Xq22.2
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: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
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000449517] ChrX:103785752 [GRCh38]
ChrX:103040681 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [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
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
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 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:168546-155233731)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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000680072] ChrX:103785743 [GRCh38]
ChrX:103040672 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000680073] ChrX:103785618 [GRCh38]
ChrX:103040547 [GRCh37]
ChrX:Xq22.2
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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xq22.2-22.3(chrX:103046942-104214535)x0 copy number loss See cases [RCV000448347] ChrX:103046942..104214535 [GRCh37]
ChrX:Xq22.2-22.3
likely pathogenic
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000463096]|Pelizaeus-Merzbacher disease [RCV000681649] ChrX:103785717 [GRCh38]
ChrX:103040646 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.98G>A (p.Cys33Tyr) single nucleotide variant not provided [RCV000481592] ChrX:103785675 [GRCh38]
ChrX:103040604 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NC_000023.10:g.(?_103031754)_(103047548_?)dup duplication Hereditary spastic paraplegia 2 [RCV000474773] ChrX:103031754..103047548 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.531C>A (p.Tyr177Ter) single nucleotide variant not provided [RCV000479361] ChrX:103787875 [GRCh38]
ChrX:103042804 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.701A>T (p.Gln234Leu) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000477426] ChrX:103789337 [GRCh38]
ChrX:103044266 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.365A>G (p.Lys122Arg) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000496178] ChrX:103786638 [GRCh38]
ChrX:103041567 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.687A>C (p.Lys229Asn) single nucleotide variant not specified [RCV000501892] ChrX:103788501 [GRCh38]
ChrX:103043430 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.453+3G>C single nucleotide variant not provided [RCV000497432] ChrX:103786729 [GRCh38]
ChrX:103041658 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.696+8G>T single nucleotide variant not specified [RCV000500115] ChrX:103788518 [GRCh38]
ChrX:103043447 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
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
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|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
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_000533.5(PLP1):c.817C>T (p.Arg273Ter) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000578343] ChrX:103790581 [GRCh38]
ChrX:103045509 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.380G>C (p.Arg127Thr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000535587] ChrX:103786653 [GRCh38]
ChrX:103041582 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) deletion Inborn genetic diseases [RCV000624043] ChrX:103786627..103786628 [GRCh38]
ChrX:103041556..103041557 [GRCh37]
ChrX:Xq22.2
pathogenic
NC_000023.10:g.(?_103031893)_(103045546_?)dup duplication Hereditary spastic paraplegia 2 [RCV000640484] ChrX:103031893..103045546 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
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_000533.5(PLP1):c.485T>C (p.Val162Ala) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000640481] ChrX:103787829 [GRCh38]
ChrX:103042758 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.384_393del (p.Gln129fs) deletion Pelizaeus-Merzbacher disease [RCV000655935] ChrX:103786657..103786666 [GRCh38]
ChrX:103041586..103041595 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.2T>G (p.Met1Arg) single nucleotide variant Inborn genetic diseases [RCV000624524] ChrX:103776997 [GRCh38]
ChrX:103031925 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.35T>C (p.Val12Ala) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000699424] ChrX:103785612 [GRCh38]
ChrX:103040541 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000680074] ChrX:103788491 [GRCh38]
ChrX:103043420 [GRCh37]
ChrX:Xq22.2
uncertain significance
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 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:102463087-103281330)x3 copy number gain not provided [RCV000684365] ChrX:102463087..103281330 [GRCh37]
ChrX:Xq22.1-22.2
uncertain significance
GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2 copy number gain not provided [RCV000684366] ChrX:102718261..103490112 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102767250-103236332)x2 copy number gain not provided [RCV000684367] ChrX:102767250..103236332 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102984836-103329001)x2 copy number gain not provided [RCV000684368] ChrX:102984836..103329001 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:103032630-103328582)x2 copy number gain not provided [RCV000684369] ChrX:103032630..103328582 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.401C>T (p.Ser134Phe) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000692653] ChrX:103786674 [GRCh38]
ChrX:103041603 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.250G>T (p.Ala84Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719102] ChrX:103786523 [GRCh38]
ChrX:103041452 [GRCh37]
ChrX:Xq22.2
uncertain significance
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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000533.5(PLP1):c.799G>A (p.Val267Ile) single nucleotide variant not provided [RCV000868649] ChrX:103790563 [GRCh38]
ChrX:103045491 [GRCh37]
ChrX:Xq22.2
likely benign
NM_000533.5(PLP1):c.246T>C (p.Tyr82=) single nucleotide variant not provided [RCV000865964] ChrX:103786519 [GRCh38]
ChrX:103041448 [GRCh37]
ChrX:Xq22.2
likely benign
NM_000533.5(PLP1):c.453+164G>A single nucleotide variant Pelizaeus-Merzbacher disease [RCV001007650] ChrX:103786890 [GRCh38]
ChrX:103041819 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.453+159G>A single nucleotide variant Pelizaeus-Merzbacher disease [RCV001007649] ChrX:103786885 [GRCh38]
ChrX:103041814 [GRCh37]
ChrX:Xq22.2
pathogenic
NC_000023.10:g.(?_102831398)_(103220942_?)dup duplication Hereditary spastic paraplegia 2 [RCV001032572] ChrX:102831398..103220942 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.410G>T (p.Arg137Leu) single nucleotide variant not provided [RCV000995993] ChrX:103786683 [GRCh38]
ChrX:103041612 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000768444] ChrX:103785681 [GRCh38]
ChrX:103040610 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NC_000023.10:g.(?_103031893)_(103045536_?)dup duplication Hereditary spastic paraplegia 2 [RCV000817279] ChrX:103031893..103045536 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993771] ChrX:102615641..103309503 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993773] ChrX:102436725..105520605 [GRCh37]
ChrX:Xq22.1-22.3
uncertain significance
NM_000533.5(PLP1):c.4+1del deletion Hereditary spastic paraplegia 2 [RCV000810065] ChrX:103776998 [GRCh38]
ChrX:103031926 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.489G>A (p.Trp163Ter) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000795658] ChrX:103787833 [GRCh38]
ChrX:103042762 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000990921] ChrX:103786568 [GRCh38]
ChrX:103041497 [GRCh37]
ChrX:Xq22.2
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
NM_000533.5(PLP1):c.192-69T>C single nucleotide variant not provided [RCV000839174] ChrX:103786396 [GRCh38]
ChrX:103041325 [GRCh37]
ChrX:Xq22.2
likely benign
NM_000533.5(PLP1):c.441A>C (p.Gly147=) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000823339] ChrX:103786714 [GRCh38]
ChrX:103041643 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xq22.2(chrX:103038277-103311893)x3 copy number gain not provided [RCV000848236] ChrX:103038277..103311893 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_103031893)_(103045546_?)del deletion Hereditary spastic paraplegia 2 [RCV000811999] ChrX:103031893..103045546 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.763-304dup duplication not provided [RCV000826324] ChrX:103790220..103790221 [GRCh38]
ChrX:103045149..103045150 [GRCh37]
ChrX:Xq22.2
benign
NM_000533.5(PLP1):c.5-111T>C single nucleotide variant not provided [RCV000829635] ChrX:103785471 [GRCh38]
ChrX:103040400 [GRCh37]
ChrX:Xq22.2
benign
NM_000533.5(PLP1):c.543_551del (p.Trp181_Thr183del) deletion not provided [RCV001090392] ChrX:103787881..103787889 [GRCh38]
ChrX:103042810..103042818 [GRCh37]
ChrX:Xq22.2
likely pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3
pathogenic
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0 copy number loss Hereditary spastic paraplegia 2 [RCV000993776] ChrX:103029773..103036548 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.5-1636_5-1619dup duplication not specified [RCV000993781] ChrX:103783933..103783934 [GRCh38]
ChrX:103038862..103038863 [GRCh37]
ChrX:Xq22.2
benign
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) single nucleotide variant Pelizaeus-Merzbacher disease [RCV001007563] ChrX:103789345 [GRCh38]
ChrX:103044274 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.454-312C>G single nucleotide variant Pelizaeus-Merzbacher disease [RCV001007651] ChrX:103787486 [GRCh38]
ChrX:103042415 [GRCh37]
ChrX:Xq22.2
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_000533.5(PLP1):c.85G>T (p.Val29Leu) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001207367] ChrX:103785662 [GRCh38]
ChrX:103040591 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.157A>C (p.Lys53Gln) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001207491] ChrX:103785734 [GRCh38]
ChrX:103040663 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993772] ChrX:100866604..103411980 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993774] ChrX:102066350..105409822 [GRCh37]
ChrX:Xq22.1-22.3
pathogenic
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x1 copy number loss Spastic Paraplegia 2, mild, late onset [RCV000993777] ChrX:103029773..103036548 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102967297-103038606)x0 copy number loss Hereditary spastic paraplegia 2 [RCV000993778] ChrX:102967297..103038606 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu) single nucleotide variant Pelizaeus-Merzbacher disease [RCV001197803] ChrX:103789379 [GRCh38]
ChrX:103044308 [GRCh37]
ChrX:Xq22.2
likely pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000990922] ChrX:103787895 [GRCh38]
ChrX:103042824 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.739del (p.Ala247fs) deletion not provided [RCV001008393] ChrX:103789371 [GRCh38]
ChrX:103044300 [GRCh37]
ChrX:Xq22.2
likely pathogenic
NM_000533.5(PLP1):c.560T>G (p.Ile187Ser) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001068734] ChrX:103787904 [GRCh38]
ChrX:103042833 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.255C>T (p.Leu85=) single nucleotide variant not provided [RCV000866588] ChrX:103786528 [GRCh38]
ChrX:103041457 [GRCh37]
ChrX:Xq22.2
likely benign
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_000533.5(PLP1):c.173A>G (p.Tyr58Cys) single nucleotide variant Pelizaeus-Merzbacher disease [RCV001196160] ChrX:103785750 [GRCh38]
ChrX:103040679 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:102543473-103398234)x0 copy number loss not provided [RCV000993779] ChrX:102543473..103398234 [GRCh37]
ChrX:Xq22.1-22.2
uncertain significance
NM_000533.5(PLP1):c.5-3598del deletion not specified [RCV000993780] ChrX:103781982 [GRCh38]
ChrX:103036910 [GRCh37]
ChrX:Xq22.2
benign
NM_000533.5(PLP1):c.606T>C (p.Ala202=) single nucleotide variant not provided [RCV000890299] ChrX:103787950 [GRCh38]
ChrX:103042879 [GRCh37]
ChrX:Xq22.2
likely benign
NM_000533.5(PLP1):c.15G>A (p.Glu5=) single nucleotide variant not provided [RCV000912211] ChrX:103785592 [GRCh38]
ChrX:103040521 [GRCh37]
ChrX:Xq22.2
likely benign
NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG (p.His238fs) insertion Hereditary spastic paraplegia 2 [RCV001068469]|not provided [RCV001009119] ChrX:103789348..103789349 [GRCh38]
ChrX:103044277..103044278 [GRCh37]
ChrX:Xq22.2
pathogenic|likely pathogenic
NC_000023.10:g.102632399_103221016del deletion Global developmental delay [RCV001172265] ChrX:102632399..103221016 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:103031924-103044327)x1 copy number loss not provided [RCV001092285] ChrX:103031924..103044327 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2 copy number gain not provided [RCV001007329] ChrX:102742391..103109211 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.454-314T>G single nucleotide variant Hereditary spastic paraplegia 2 [RCV001225011] ChrX:103787484 [GRCh38]
ChrX:103042413 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.441A>T (p.Gly147=) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001215006] ChrX:103786714 [GRCh38]
ChrX:103041643 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.763-3C>T single nucleotide variant Hereditary spastic paraplegia 2 [RCV001229397] ChrX:103790524 [GRCh38]
ChrX:103045452 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.25A>T (p.Arg9Ter) single nucleotide variant Spasticity [RCV001260516] ChrX:103785602 [GRCh38]
ChrX:103040531 [GRCh37]
ChrX:Xq22.2
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
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
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_000533.5(PLP1):c.696+1G>A single nucleotide variant Inborn genetic diseases [RCV001266006] ChrX:103788511 [GRCh38]
ChrX:103043440 [GRCh37]
ChrX:Xq22.2
likely pathogenic
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_000533.5(PLP1):c.21T>A (p.Cys7Ter) single nucleotide variant Pelizaeus-Merzbacher disease [RCV001329970] ChrX:103785598 [GRCh38]
ChrX:103040527 [GRCh37]
ChrX:Xq22.2
pathogenic
NM_000533.5(PLP1):c.661G>A (p.Gly221Ser) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001298166] ChrX:103788475 [GRCh38]
ChrX:103043404 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.454-319C>A single nucleotide variant not provided [RCV001311094] ChrX:103787479 [GRCh38]
ChrX:103042408 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.254T>A (p.Leu85His) single nucleotide variant not provided [RCV001288681] ChrX:103786527 [GRCh38]
ChrX:103041456 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.788A>G (p.Tyr263Cys) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001321824] ChrX:103790552 [GRCh38]
ChrX:103045480 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.454-20C>A single nucleotide variant Pelizaeus-Merzbacher disease [RCV001329971] ChrX:103787778 [GRCh38]
ChrX:103042707 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del) microsatellite Hereditary spastic paraplegia 2 [RCV001323702] ChrX:103786505..103786507 [GRCh38]
ChrX:103041434..103041436 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.594C>A (p.Gly198=) single nucleotide variant not provided [RCV001311095] ChrX:103787938 [GRCh38]
ChrX:103042867 [GRCh37]
ChrX:Xq22.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9086 AgrOrtholog
COSMIC PLP1 COSMIC
Ensembl Genes ENSG00000123560 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000391853 UniProtKB/TrEMBL
  ENSP00000393391 UniProtKB/TrEMBL
  ENSP00000403335 UniProtKB/TrEMBL
  ENSP00000409802 UniProtKB/TrEMBL
  ENSP00000413931 UniProtKB/TrEMBL
  ENSP00000477619 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480409 UniProtKB/TrEMBL
  ENSP00000481006 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484450 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000422393 UniProtKB/TrEMBL
  ENST00000433491 UniProtKB/TrEMBL
  ENST00000434483 UniProtKB/TrEMBL
  ENST00000443502 UniProtKB/TrEMBL
  ENST00000455268 UniProtKB/TrEMBL
  ENST00000494475 UniProtKB/TrEMBL
  ENST00000612423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619236 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000621218 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000123560 GTEx
HGNC ID HGNC:9086 ENTREZGENE
Human Proteome Map PLP1 Human Proteome Map
InterPro Myelin_PLP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myelin_PLP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5354 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5354 ENTREZGENE
OMIM 300401 OMIM
  312080 OMIM
  312920 OMIM
PANTHER PTHR11683 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Myelin_PLP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33414 PharmGKB
PRINTS MYELINPLP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MYELIN_PLP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYELIN_PLP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PLP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4D4 ENTREZGENE, UniProtKB/TrEMBL
  A8K9L3 ENTREZGENE, UniProtKB/TrEMBL
  B1B1G1_HUMAN UniProtKB/TrEMBL
  B1B1G2_HUMAN UniProtKB/TrEMBL
  B1B1G3_HUMAN UniProtKB/TrEMBL
  B1B1G4_HUMAN UniProtKB/TrEMBL
  B1B1G6_HUMAN UniProtKB/TrEMBL
  B4DI30 ENTREZGENE, UniProtKB/TrEMBL
  MYPR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A087WWP9 UniProtKB/TrEMBL
  A0A0E3D6M4 UniProtKB/TrEMBL
  A0A0U1RVI3 UniProtKB/TrEMBL
  B1B1G5 UniProtKB/TrEMBL
  P04400 UniProtKB/Swiss-Prot
  P06905 UniProtKB/Swiss-Prot
  Q502Y1 UniProtKB/Swiss-Prot
  Q6FHZ6 UniProtKB/Swiss-Prot