RAB9B (RAB9B, member RAS oncogene family) - Rat Genome Database

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Gene: RAB9B (RAB9B, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB9B
Name: RAB9B, member RAS oncogene family
RGD ID: 1353231
HGNC Page HGNC
Description: Exhibits GDP binding activity. Predicted to be involved in retrograde transport, endosome to Golgi. Localizes to phagocytic vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: rab-9-like protein; Rab-9L; RAB9-like protein; RAB9L; Ras-associated protein 9B; Ras-associated protein RAB9-like; ras-related protein Rab-9B
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 EnsemblX103,822,327 - 103,832,257 (-)EnsemblGRCh38hg38GRCh38
GRCh38X103,776,324 - 103,832,257 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,031,252 - 103,087,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,966,607 - 102,973,814 (-)NCBINCBI36hg18NCBI36
Build 34X102,886,095 - 102,893,303NCBI
CeleraX103,516,271 - 103,526,228 (-)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,732,783 - 92,742,676 (-)NCBIHuRef
CHM1_1X102,970,244 - 102,980,201 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11043518   PMID:12051767   PMID:12477932   PMID:15489334   PMID:15772651   PMID:16140752   PMID:16204133   PMID:16344560   PMID:19490898   PMID:20012524   PMID:20048159   PMID:20459747  
PMID:20937701   PMID:21255211   PMID:21808068   PMID:21873635   PMID:22637480   PMID:26186194   PMID:28514442   PMID:30804014   PMID:31586073  


Genomics

Comparative Map Data
RAB9B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX103,822,327 - 103,832,257 (-)EnsemblGRCh38hg38GRCh38
GRCh38X103,776,324 - 103,832,257 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,031,252 - 103,087,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,966,607 - 102,973,814 (-)NCBINCBI36hg18NCBI36
Build 34X102,886,095 - 102,893,303NCBI
CeleraX103,516,271 - 103,526,228 (-)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,732,783 - 92,742,676 (-)NCBIHuRef
CHM1_1X102,970,244 - 102,980,201 (-)NCBICHM1_1
Rab9b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X135,758,896 - 135,769,305 (-)NCBIGRCm39mm39
GRCm39 EnsemblX135,758,896 - 135,769,504 (-)Ensembl
GRCm38X136,858,147 - 136,868,556 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX136,858,147 - 136,868,755 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X133,392,690 - 133,403,079 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X132,204,515 - 132,214,904 (-)NCBImm8
CeleraX120,140,142 - 120,150,492 (-)NCBICelera
Cytogenetic MapXF1NCBI
Rab9b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X100,220,897 - 100,231,591 (-)NCBI
Rnor_6.0 EnsemblX107,531,404 - 107,542,510 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X107,531,404 - 107,542,510 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X107,414,930 - 107,426,468 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X124,525,742 - 124,528,535 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX101,055,137 - 101,065,806 (-)NCBICelera
Cytogenetic MapXq32NCBI
Rab9b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955548825,208 - 829,815 (-)NCBIChiLan1.0ChiLan1.0
RAB9B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X103,442,543 - 103,451,813 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX103,444,776 - 103,445,381 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X93,060,899 - 93,070,911 (-)NCBIMhudiblu_PPA_v0panPan3
RAB9B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X77,228,609 - 77,238,344 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX77,231,441 - 77,239,001 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX63,457,575 - 63,467,309 (-)NCBI
ROS_Cfam_1.0X78,846,172 - 78,865,879 (-)NCBI
UMICH_Zoey_3.1X76,324,746 - 76,334,480 (-)NCBI
UNSW_CanFamBas_1.0X78,011,443 - 78,021,177 (-)NCBI
UU_Cfam_GSD_1.0X77,778,585 - 77,788,319 (-)NCBI
Rab9b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X77,151,172 - 77,161,702 (-)NCBI
SpeTri2.0NW_00493649910,501,837 - 10,506,793 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB9B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX84,721,274 - 84,732,990 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X84,721,269 - 84,733,000 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X98,599,279 - 98,610,984 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB9B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X91,716,741 - 91,727,167 (-)NCBI
ChlSab1.1 EnsemblX91,719,610 - 91,720,212 (-)Ensembl
Vero_WHO_p1.0NW_02366606516,582,249 - 16,667,935 (-)NCBI
Rab9b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462495488,909 - 102,637 (+)NCBI

Position Markers
RH99150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,077,356 - 103,077,479UniSTSGRCh37
Build 36X102,964,012 - 102,964,135RGDNCBI36
CeleraX103,516,372 - 103,516,495RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX92,732,884 - 92,733,007UniSTS
GeneMap99-GB4 RH MapX277.43UniSTS
RAB9B_2548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,079,763 - 103,080,592UniSTSGRCh37
Build 36X102,966,419 - 102,967,248RGDNCBI36
CeleraX103,518,779 - 103,519,608RGD
HuRefX92,735,291 - 92,736,120UniSTS
WI-21742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,077,943 - 103,078,209UniSTSGRCh37
Build 36X102,964,599 - 102,964,865RGDNCBI36
CeleraX103,516,959 - 103,517,225RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX92,733,471 - 92,733,737UniSTS
GeneMap99-GB4 RH MapX277.43UniSTS
Whitehead-RH MapX265.0UniSTS
NCBI RH MapX538.9UniSTS
UniSTS:485774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,080,011 - 103,080,737UniSTSGRCh37
CeleraX103,519,027 - 103,519,753UniSTS
HuRefX92,735,539 - 92,736,265UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-5pMirtarbaseexternal_infoMicroarray//Northern blotFunctional MTI (Weak)16331254
MIR16-1hsa-miR-16-5pMirtarbaseexternal_infoproteomics analysisFunctional MTI (Weak)18362358
MIR15Ahsa-miR-15a-5pMirtarbaseexternal_infoproteomics analysisFunctional MTI (Weak)18362358
MIR16-2hsa-miR-16-5pMirtarbaseexternal_infoproteomics analysisFunctional MTI (Weak)18362358

Predicted Target Of
Summary Value
Count of predictions:1905
Count of miRNA genes:979
Interacting mature miRNAs:1162
Transcripts:ENST00000243298
Prediction methods:Miranda, Pita, Rnahybrid
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 pharyngeal arch
High
Medium 925 1079 138 13 546 737 1286 27 286 33 39 502
Low 1366 1121 1167 206 1020 70 3396 1408 2434 249 1078 1458 141 1 1126 2160 4 2
Below cutoff 113 711 370 369 808 346 409 49 13 134 78 96 32 39 126 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB036693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC253567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA501604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510144 (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
  KF510148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510612 (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: ENST00000243298   ⟹   ENSP00000243298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,822,327 - 103,832,257 (-)Ensembl
RefSeq Acc Id: NM_016370   ⟹   NP_057454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,822,327 - 103,832,257 (-)NCBI
GRCh37X103,077,255 - 103,087,212 (-)RGD
Build 36X102,966,607 - 102,973,814 (-)NCBI Archive
CeleraX103,516,271 - 103,526,228 (-)RGD
HuRefX92,732,783 - 92,742,676 (-)ENTREZGENE
CHM1_1X102,970,244 - 102,980,201 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146558
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,324 - 103,832,257 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146560
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,324 - 103,832,257 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057454   ⟸   NM_016370
- UniProtKB: Q9NP90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000243298   ⟸   ENST00000243298

Promoters
RGD ID:6809168
Promoter ID:HG_KWN:67637
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000057746,   UC004ELI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X102,973,429 - 102,973,929 (-)MPROMDB
RGD ID:13627746
Promoter ID:EPDNEW_H29148
Type:multiple initiation site
Name:RAB9B_4
Description:RAB9B, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29149  EPDNEW_H29151  EPDNEW_H29150  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,828,893 - 103,828,953EPDNEW
RGD ID:13627748
Promoter ID:EPDNEW_H29149
Type:initiation region
Name:RAB9B_2
Description:RAB9B, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29148  EPDNEW_H29151  EPDNEW_H29150  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,832,256 - 103,832,316EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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
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 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:10679-156013167)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 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 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: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 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 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
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.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)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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: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 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 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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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: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 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 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 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 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 Xq22.1-28(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 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 Xp22.2-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: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 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
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
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000533.5(PLP1):c.673del (p.Leu225fs) deletion not provided [RCV000260719] ChrX:103788487 [GRCh38]
ChrX:103043416 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xp22.33-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: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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
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.3G>A (p.Met1Ile) single nucleotide variant Pelizaeus-Merzbacher disease, mild [RCV000011836] ChrX:103776998 [GRCh38]
ChrX:103031926 [GRCh37]
ChrX:Xq22.2
pathogenic
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
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 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.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.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.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.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.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.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.453+1G>C single nucleotide variant not provided [RCV000579221] ChrX:103786727 [GRCh38]
ChrX:103041656 [GRCh37]
ChrX:Xq22.2
pathogenic
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
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.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.453+2T>C single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011844]|not provided [RCV000598719] ChrX:103786728 [GRCh38]
ChrX:103041657 [GRCh37]
ChrX:Xq22.2
pathogenic
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.655G>T (p.Val219Phe) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011826] ChrX:103788469 [GRCh38]
ChrX:103043398 [GRCh37]
ChrX:Xq22.2
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.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.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.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.191+1G>T single nucleotide variant not provided [RCV000355888] ChrX:103785769 [GRCh38]
ChrX:103040698 [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.98G>A (p.Cys33Tyr) single nucleotide variant not provided [RCV000481592] ChrX:103785675 [GRCh38]
ChrX:103040604 [GRCh37]
ChrX:Xq22.2
likely pathogenic
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.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.701A>T (p.Gln234Leu) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000477426] ChrX:103789337 [GRCh38]
ChrX:103044266 [GRCh37]
ChrX:Xq22.2
uncertain significance
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
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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 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
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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
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
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [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 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
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:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(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:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..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
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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.191+1G>A single nucleotide variant not provided [RCV000255963] ChrX:103785769 [GRCh38]
ChrX:103040698 [GRCh37]
ChrX:Xq22.2
pathogenic
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.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.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.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.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
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
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.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.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.2T>C (p.Met1Thr) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000203805] ChrX:103776997 [GRCh38]
ChrX:103031925 [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.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.415_418delinsAGT (p.Cys139fs) indel Hereditary spastic paraplegia 2 [RCV000640482] ChrX:103786688..103786691 [GRCh38]
ChrX:103041617..103041620 [GRCh37]
ChrX:Xq22.2
pathogenic
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.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.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.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.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.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.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.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.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
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
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
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.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.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.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.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.388C>T (p.His130Tyr) single nucleotide variant not provided [RCV000223963] ChrX:103786661 [GRCh38]
ChrX:103041590 [GRCh37]
ChrX:Xq22.2
likely 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.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.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.509C>T (p.Ser170Phe) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000011841] ChrX:103787853 [GRCh38]
ChrX:103042782 [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_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.687A>C (p.Lys229Asn) single nucleotide variant not specified [RCV000501892] ChrX:103788501 [GRCh38]
ChrX:103043430 [GRCh37]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000533.5(PLP1):c.453+4A>G single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011845] ChrX:103786730 [GRCh38]
ChrX:103041659 [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 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.762+3G>T single nucleotide variant Pelizaeus-Merzbacher disease [RCV000011843] ChrX:103789401 [GRCh38]
ChrX:103044330 [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.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 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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
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.255C>T (p.Leu85=) single nucleotide variant not provided [RCV000866588] ChrX:103786528 [GRCh38]
ChrX:103041457 [GRCh37]
ChrX:Xq22.2
likely benign
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
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.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
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
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.489G>A (p.Trp163Ter) single nucleotide variant Hereditary spastic paraplegia 2 [RCV000795658] ChrX:103787833 [GRCh38]
ChrX:103042762 [GRCh37]
ChrX:Xq22.2
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
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 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.453+159G>A single nucleotide variant Pelizaeus-Merzbacher disease [RCV001007649] ChrX:103786885 [GRCh38]
ChrX:103041814 [GRCh37]
ChrX:Xq22.2
pathogenic
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.763-304dup duplication not provided [RCV000826324] ChrX:103790220..103790221 [GRCh38]
ChrX:103045149..103045150 [GRCh37]
ChrX:Xq22.2
benign
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.295C>T (p.Gln99Ter) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000990921] ChrX:103786568 [GRCh38]
ChrX:103041497 [GRCh37]
ChrX:Xq22.2
pathogenic
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.5-3598del deletion not specified [RCV000993780] ChrX:103781982 [GRCh38]
ChrX:103036910 [GRCh37]
ChrX:Xq22.2
benign
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
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.709T>G (p.Phe237Val) single nucleotide variant Pelizaeus-Merzbacher disease [RCV001007563] ChrX:103789345 [GRCh38]
ChrX:103044274 [GRCh37]
ChrX:Xq22.2
likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_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
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
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
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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
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.543_551del (p.Trp181_Thr183del) deletion not provided [RCV001090392] ChrX:103787881..103787889 [GRCh38]
ChrX:103042810..103042818 [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.157A>C (p.Lys53Gln) single nucleotide variant Hereditary spastic paraplegia 2 [RCV001207491] ChrX:103785734 [GRCh38]
ChrX:103040663 [GRCh37]
ChrX:Xq22.2
uncertain significance
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
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_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 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
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.551G>A (p.Cys184Tyr) single nucleotide variant Pelizaeus-Merzbacher disease [RCV000990922] ChrX:103787895 [GRCh38]
ChrX:103042824 [GRCh37]
ChrX:Xq22.2
likely 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.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.173A>G (p.Tyr58Cys) single nucleotide variant Pelizaeus-Merzbacher disease [RCV001196160] ChrX:103785750 [GRCh38]
ChrX:103040679 [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.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 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_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
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.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.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.454-20C>A single nucleotide variant Pelizaeus-Merzbacher disease [RCV001329971] ChrX:103787778 [GRCh38]
ChrX:103042707 [GRCh37]
ChrX:Xq22.2
uncertain significance
NM_000533.5(PLP1):c.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.594C>A (p.Gly198=) single nucleotide variant not provided [RCV001311095] ChrX:103787938 [GRCh38]
ChrX:103042867 [GRCh37]
ChrX:Xq22.2
likely benign
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.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.232TTC[2] (p.Phe80del) microsatellite Hereditary spastic paraplegia 2 [RCV001323702] ChrX:103786505..103786507 [GRCh38]
ChrX:103041434..103041436 [GRCh37]
ChrX:Xq22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14090 AgrOrtholog
COSMIC RAB9B COSMIC
Ensembl Genes ENSG00000123570 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000288597 ENTREZGENE
Ensembl Protein ENSP00000243298 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000243298 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674265 ENTREZGENE
GTEx ENSG00000123570 GTEx
  ENSG00000288597 GTEx
HGNC ID HGNC:14090 ENTREZGENE
Human Proteome Map RAB9B Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  Rab9 UniProtKB/Swiss-Prot
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase UniProtKB/Swiss-Prot
KEGG Report hsa:51209 UniProtKB/Swiss-Prot
NCBI Gene 51209 ENTREZGENE
OMIM 300285 OMIM
Pfam Ras UniProtKB/Swiss-Prot
PharmGKB PA34153 PharmGKB
PROSITE RAB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
TIGRFAMs small_GTP UniProtKB/Swiss-Prot
UniProt Q9NP90 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R8M0 UniProtKB/Swiss-Prot
  Q52LX2 UniProtKB/Swiss-Prot