CHM (CHM Rab escort protein) - Rat Genome Database

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Gene: CHM (CHM Rab escort protein) Homo sapiens
Analyze
Symbol: CHM
Name: CHM Rab escort protein
RGD ID: 732475
HGNC Page HGNC
Description: Exhibits small GTPase binding activity. Involved in protein geranylgeranylation and protein targeting to membrane. Localizes to Rab-protein geranylgeranyltransferase complex and cytosol. Implicated in choroideremia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHM, Rab escort protein 1; choroideraemia protein; choroideremia (Rab escort protein 1); choroideremia protein; DXS540; FLJ38564; GGTA; HSD-32; MGC102710; rab escort protein 1; Rab geranylgeranyltransferase component A; rab proteins geranylgeranyltransferase component A 1; REP-1; TCD
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 EnsemblX85,861,180 - 86,047,561 (-)EnsemblGRCh38hg38GRCh38
GRCh38X85,861,180 - 86,047,558 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X85,116,185 - 85,302,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X85,002,841 - 85,189,222 (-)NCBINCBI36hg18NCBI36
Build 34X84,925,656 - 85,108,711NCBI
CeleraX85,355,767 - 85,542,165 (-)NCBI
Cytogenetic MapXq21.2NCBI
HuRefX78,692,493 - 78,878,455 (-)NCBIHuRef
CHM1_1X85,009,817 - 85,196,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1302003   PMID:1373238   PMID:1549574   PMID:1598901   PMID:1904992   PMID:2215697   PMID:2220804   PMID:7951216   PMID:7957092   PMID:7981670   PMID:8294464   PMID:8380507  
PMID:8477262   PMID:8889548   PMID:9437002   PMID:9563513   PMID:10022613   PMID:11141079   PMID:11297488   PMID:11886217   PMID:12477932   PMID:12535645   PMID:12576024   PMID:12620235  
PMID:12827496   PMID:14566650   PMID:14702039   PMID:15186776   PMID:15242790   PMID:15465555   PMID:15579993   PMID:15772651   PMID:16087855   PMID:16344560   PMID:16936131   PMID:17698759  
PMID:18029348   PMID:18087237   PMID:18385043   PMID:18487380   PMID:18532927   PMID:18773267   PMID:19376587   PMID:19422966   PMID:19427510   PMID:19597113   PMID:19764077   PMID:20027300  
PMID:20301511   PMID:21873635   PMID:21905166   PMID:21939745   PMID:21990357   PMID:22025891   PMID:22355242   PMID:22965595   PMID:23273018   PMID:23940504   PMID:24556642   PMID:24672218  
PMID:24913019   PMID:25722215   PMID:25912515   PMID:26186194   PMID:26216097   PMID:26344197   PMID:26472337   PMID:26496610   PMID:26720468   PMID:27070432   PMID:27329764   PMID:27820636  
PMID:28055019   PMID:28230863   PMID:28271586   PMID:28514442   PMID:28643494   PMID:28752371   PMID:28774736   PMID:28846638   PMID:28911202   PMID:29367200   PMID:29449217   PMID:29555028  
PMID:29568061   PMID:29620233   PMID:29721948   PMID:29940166   PMID:30297895   PMID:30308560   PMID:30995293   PMID:32097478   PMID:32364220   PMID:32985515   PMID:33538369  


Genomics

Comparative Map Data
CHM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX85,861,180 - 86,047,561 (-)EnsemblGRCh38hg38GRCh38
GRCh38X85,861,180 - 86,047,558 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X85,116,185 - 85,302,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X85,002,841 - 85,189,222 (-)NCBINCBI36hg18NCBI36
Build 34X84,925,656 - 85,108,711NCBI
CeleraX85,355,767 - 85,542,165 (-)NCBI
Cytogenetic MapXq21.2NCBI
HuRefX78,692,493 - 78,878,455 (-)NCBIHuRef
CHM1_1X85,009,817 - 85,196,134 (-)NCBICHM1_1
Chm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X111,950,289 - 112,095,236 (-)NCBIGRCm39mm39
GRCm39 EnsemblX111,950,290 - 112,095,214 (-)Ensembl
GRCm38X113,040,592 - 113,185,539 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX113,040,593 - 113,185,517 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X110,154,201 - 110,299,124 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X109,158,373 - 109,302,459 (-)NCBImm8
CeleraX99,640,514 - 99,788,256 (-)NCBICelera
Cytogenetic MapXE1NCBI
Chm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X78,203,200 - 78,361,996 (-)NCBI
Rnor_6.0 EnsemblX84,666,900 - 84,821,775 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X84,666,900 - 84,821,775 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X84,610,339 - 84,767,421 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X101,753,857 - 101,927,941 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X101,827,289 - 102,001,374 (-)NCBI
CeleraX79,495,432 - 79,653,919 (-)NCBICelera
Cytogenetic MapXq31NCBI
Chm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955525360,412 - 563,936 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955525359,393 - 563,930 (-)NCBIChiLan1.0ChiLan1.0
CHM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X85,038,154 - 85,224,741 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX85,038,154 - 85,224,761 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X74,928,576 - 75,115,733 (-)NCBIMhudiblu_PPA_v0panPan3
CHM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X66,636,003 - 66,880,256 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX66,639,095 - 66,880,209 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX57,393,834 - 57,644,452 (-)NCBI
ROS_Cfam_1.0X67,968,230 - 68,212,512 (-)NCBI
UMICH_Zoey_3.1X65,616,374 - 65,860,581 (-)NCBI
UNSW_CanFamBas_1.0X67,253,846 - 67,498,044 (-)NCBI
UU_Cfam_GSD_1.0X66,844,991 - 67,089,220 (-)NCBI
Chm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X60,048,529 - 60,212,795 (-)NCBI
SpeTri2.0NW_0049365476,368,941 - 6,533,199 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX68,873,359 - 69,066,275 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X68,873,882 - 69,066,284 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X78,754,163 - 78,918,794 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHM
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X74,626,531 - 74,810,560 (-)NCBI
ChlSab1.1 EnsemblX74,626,028 - 74,810,557 (-)Ensembl
Chm
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248522,270,647 - 2,514,864 (+)NCBI

Position Markers
DXS8326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,119,494 - 85,119,605UniSTSGRCh37
Build 36X85,006,150 - 85,006,261RGDNCBI36
CeleraX85,359,076 - 85,359,187RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,695,802 - 78,695,913UniSTS
Whitehead-YAC Contig MapX UniSTS
GDB:636379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,119,610 - 85,119,899UniSTSGRCh37
Build 36X85,006,266 - 85,006,555RGDNCBI36
CeleraX85,359,192 - 85,359,481RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,695,918 - 78,696,207UniSTS
GDB:636299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,302,443 - 85,302,660UniSTSGRCh37
Build 36X85,189,099 - 85,189,316RGDNCBI36
CeleraX85,542,042 - 85,542,259RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,878,332 - 78,878,549UniSTS
RH119297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,141,477 - 85,141,750UniSTSGRCh37
Build 36X85,028,133 - 85,028,406RGDNCBI36
CeleraX85,381,060 - 85,381,333RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,717,556 - 78,717,829UniSTS
TNG Radiation Hybrid MapX20028.0UniSTS
GDB:271316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,122,947 - 85,123,098UniSTSGRCh37
Build 36X85,009,603 - 85,009,754RGDNCBI36
CeleraX85,362,529 - 85,362,680RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,699,203 - 78,699,356UniSTS
GDB:271320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,166,099 - 85,166,265UniSTSGRCh37
Build 36X85,052,755 - 85,052,921RGDNCBI36
CeleraX85,405,686 - 85,405,854RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,742,186 - 78,742,429UniSTS
GDB:452659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,218,848 - 85,219,089UniSTSGRCh37
Build 36X85,105,504 - 85,105,745RGDNCBI36
CeleraX85,458,450 - 85,458,691RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,794,669 - 78,794,910UniSTS
GDB:636308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,236,707 - 85,236,883UniSTSGRCh37
Build 36X85,123,363 - 85,123,539RGDNCBI36
CeleraX85,476,310 - 85,476,486RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,812,587 - 78,812,762UniSTS
GDB:636311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,233,730 - 85,233,951UniSTSGRCh37
Build 36X85,120,386 - 85,120,607RGDNCBI36
CeleraX85,473,332 - 85,473,553RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,809,609 - 78,809,830UniSTS
GDB:636322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,218,643 - 85,218,888UniSTSGRCh37
Build 36X85,105,299 - 85,105,544RGDNCBI36
CeleraX85,458,245 - 85,458,490RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,794,464 - 78,794,709UniSTS
GDB:636328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,213,821 - 85,214,035UniSTSGRCh37
Build 36X85,100,477 - 85,100,691RGDNCBI36
CeleraX85,453,423 - 85,453,637RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,789,951 - 78,790,165UniSTS
GDB:636338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,212,830 - 85,213,032UniSTSGRCh37
Build 36X85,099,486 - 85,099,688RGDNCBI36
CeleraX85,452,432 - 85,452,634RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,788,960 - 78,789,162UniSTS
GDB:636342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,211,119 - 85,211,427UniSTSGRCh37
Build 36X85,097,775 - 85,098,083RGDNCBI36
CeleraX85,450,721 - 85,451,029RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,787,249 - 78,787,557UniSTS
GDB:636348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,156,043 - 85,156,227UniSTSGRCh37
Build 36X85,042,699 - 85,042,883RGDNCBI36
CeleraX85,395,630 - 85,395,814RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,732,128 - 78,732,312UniSTS
WI-11849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,116,411 - 85,116,536UniSTSGRCh37
Build 36X85,003,067 - 85,003,192RGDNCBI36
CeleraX85,355,993 - 85,356,118RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,692,719 - 78,692,844UniSTS
GeneMap99-GB4 RH MapX253.64UniSTS
Whitehead-RH MapX227.7UniSTS
NCBI RH MapX531.7UniSTS
PMC22091P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,218,887 - 85,219,056UniSTSGRCh37
Build 36X85,105,543 - 85,105,712RGDNCBI36
CeleraX85,458,489 - 85,458,658RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,794,708 - 78,794,877UniSTS
CHM_8255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,119,313 - 85,119,829UniSTSGRCh37
Build 36X85,005,969 - 85,006,485RGDNCBI36
CeleraX85,358,895 - 85,359,411RGD
HuRefX78,695,621 - 78,696,137UniSTS
STS-M83773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,119,532 - 85,119,707UniSTSGRCh37
Build 36X85,006,188 - 85,006,363RGDNCBI36
CeleraX85,359,114 - 85,359,289RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,695,840 - 78,696,015UniSTS
GeneMap99-GB4 RH MapX257.54UniSTS
NCBI RH MapX531.7UniSTS
RH112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,116,364 - 85,116,468UniSTSGRCh37
Build 36X85,003,020 - 85,003,124RGDNCBI36
CeleraX85,355,946 - 85,356,050RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,692,672 - 78,692,776UniSTS
GeneMap99-GB4 RH MapX258.18UniSTS
NCBI RH MapX531.7UniSTS
RH46170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,193,581 - 85,193,721UniSTSGRCh37
Build 36X85,080,237 - 85,080,377RGDNCBI36
CeleraX85,433,183 - 85,433,323RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,769,697 - 78,769,837UniSTS
GeneMap99-GB4 RH MapX257.76UniSTS
CHM  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X85,211,168 - 85,211,340UniSTSGRCh37
CeleraX85,450,770 - 85,450,942UniSTS
HuRefX78,787,298 - 78,787,470UniSTS
RH80031  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1p36.12-p35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23UniSTS
L29953  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map9p13.3UniSTS
GDB:437724  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3434
Count of miRNA genes:1292
Interacting mature miRNAs:1621
Transcripts:ENST00000357749, ENST00000358786, ENST00000467744, ENST00000483950, ENST00000487515, ENST00000537751
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 120 283 145 24 352 25 551 56 417 149 271 280 12 1 23 288 4 2
Low 2319 2419 1581 600 1355 440 3806 2097 3311 268 1189 1332 163 1181 2500 2
Below cutoff 289 244 44 6 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH007342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL009175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY255796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU688880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA403806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB231066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB775572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357749   ⟹   ENSP00000350386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,861,180 - 86,047,558 (-)Ensembl
RefSeq Acc Id: ENST00000467744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,861,181 - 86,047,305 (-)Ensembl
RefSeq Acc Id: ENST00000483950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX86,026,958 - 86,047,561 (-)Ensembl
RefSeq Acc Id: ENST00000487515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,978,656 - 85,981,809 (-)Ensembl
RefSeq Acc Id: ENST00000615443   ⟹   ENSP00000484306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,969,087 - 86,047,539 (-)Ensembl
RefSeq Acc Id: NM_000390   ⟹   NP_000381
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,180 - 86,047,558 (-)NCBI
GRCh37X85,116,185 - 85,302,566 (-)ENTREZGENE
Build 36X85,002,841 - 85,189,222 (-)NCBI Archive
HuRefX78,692,493 - 78,878,455 (-)ENTREZGENE
CHM1_1X85,009,817 - 85,196,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145414   ⟹   NP_001138886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,969,094 - 86,047,558 (-)NCBI
GRCh37X85,116,185 - 85,302,566 (-)ENTREZGENE
HuRefX78,692,493 - 78,878,455 (-)ENTREZGENE
CHM1_1X85,117,692 - 85,196,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320959   ⟹   NP_001307888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,180 - 86,047,325 (-)NCBI
CHM1_1X85,009,817 - 85,195,894 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362517   ⟹   NP_001349446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,180 - 86,047,328 (-)NCBI
RefSeq Acc Id: NM_001362518   ⟹   NP_001349447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,180 - 86,047,306 (-)NCBI
RefSeq Acc Id: NM_001362519   ⟹   NP_001349448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,180 - 86,047,328 (-)NCBI
RefSeq Acc Id: XM_017029242   ⟹   XP_016884731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,871,363 - 86,047,558 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029246   ⟹   XP_016884735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,395 - 86,047,535 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452331   ⟹   XP_024308099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,861,395 - 86,032,869 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000381   ⟸   NM_000390
- Peptide Label: isoform a
- UniProtKB: P24386 (UniProtKB/Swiss-Prot),   A8K545 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138886   ⟸   NM_001145414
- Peptide Label: isoform b
- UniProtKB: P24386 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307888   ⟸   NM_001320959
- Peptide Label: isoform c
- UniProtKB: P24386 (UniProtKB/Swiss-Prot),   A8K545 (UniProtKB/TrEMBL),   B4DRL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884735   ⟸   XM_017029246
- Peptide Label: isoform X2
- UniProtKB: B4DRL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884731   ⟸   XM_017029242
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308099   ⟸   XM_024452331
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001349448   ⟸   NM_001362519
- Peptide Label: isoform c
RefSeq Acc Id: NP_001349446   ⟸   NM_001362517
- Peptide Label: isoform c
RefSeq Acc Id: NP_001349447   ⟸   NM_001362518
- Peptide Label: isoform c
RefSeq Acc Id: ENSP00000484306   ⟸   ENST00000615443
RefSeq Acc Id: ENSP00000350386   ⟸   ENST00000357749

Promoters
RGD ID:6808569
Promoter ID:HG_KWN:67404
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358786,   NM_000390,   OTTHUMT00000057398,   OTTHUMT00000057399,   UC004EEU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X85,188,701 - 85,189,201 (-)MPROMDB
RGD ID:13627566
Promoter ID:EPDNEW_H29058
Type:initiation region
Name:CHM_1
Description:CHM, Rab escort protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,554 - 86,047,614EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000390.4(CHM):c.1520A>G (p.His507Arg) single nucleotide variant Choroideremia [RCV000033030] ChrX:85879054 [GRCh38]
ChrX:85134059 [GRCh37]
ChrX:Xq21.2
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
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) single nucleotide variant Choroideremia [RCV000132595]|not provided [RCV000519231] ChrX:85958872 [GRCh38]
ChrX:85213877 [GRCh37]
ChrX:Xq21.2
pathogenic
CHM, IVS13DS, INS T, +2 insertion Choroideremia, Salla type [RCV000011897] ChrX:Xq21.2 pathogenic
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) indel Choroideremia [RCV000011898] ChrX:85900700..85900701 [GRCh38]
ChrX:85155705..85155706 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) single nucleotide variant Choroideremia [RCV000011899]|not provided [RCV001092045] ChrX:85894214 [GRCh38]
ChrX:85149219 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) single nucleotide variant Choroideremia [RCV000011900] ChrX:85894227 [GRCh38]
ChrX:85149232 [GRCh37]
ChrX:Xq21.2
pathogenic
CHM, 1-BP DEL, GGA146GA, FS159TER deletion Choroideremia [RCV000011901] ChrX:Xq21.2 pathogenic
NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs) microsatellite Choroideremia [RCV000011902]|Retinal dystrophy [RCV001073513] ChrX:85878987..85878990 [GRCh38]
ChrX:85133992..85133995 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) single nucleotide variant Choroideremia [RCV000011903] ChrX:85894201 [GRCh38]
ChrX:85149206 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) single nucleotide variant Choroideremia [RCV000011904]|not provided [RCV000078687] ChrX:85957918 [GRCh38]
ChrX:85212923 [GRCh37]
ChrX:Xq21.2
pathogenic
CHM, L1 INS insertion Choroideremia [RCV000011906] ChrX:Xq21.2 pathogenic
NM_000390.4(CHM):c.1609+2T>A single nucleotide variant not provided [RCV000520979] ChrX:85878963 [GRCh38]
ChrX:85133968 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.2(CHM):c.1167-282T>G single nucleotide variant Lung cancer [RCV000102856] ChrX:85911620 [GRCh38]
ChrX:85166625 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1609+2dup duplication Choroideremia [RCV000049636] ChrX:85878962..85878963 [GRCh38]
ChrX:85133967..85133968 [GRCh37]
ChrX:Xq21.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq21.1-21.31(chrX:79372269-91308122)x1 copy number loss See cases [RCV000050772] ChrX:79372269..91308122 [GRCh38]
ChrX:78627766..90563121 [GRCh37]
ChrX:78514422..90449777 [NCBI36]
ChrX:Xq21.1-21.31
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 Xq21.1-21.2(chrX:81762602-86457999)x1 copy number loss See cases [RCV000051707] ChrX:81762602..86457999 [GRCh38]
ChrX:81018101..85713002 [GRCh37]
ChrX:80904757..85599658 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 copy number loss See cases [RCV000051709] ChrX:81765008..86444979 [GRCh38]
ChrX:81020507..85699982 [GRCh37]
ChrX:80907163..85586638 [NCBI36]
ChrX:Xq21.1-21.2
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 Xq21.1-21.2(chrX:80329330-86150446)x1 copy number loss See cases [RCV000051670] ChrX:80329330..86150446 [GRCh38]
ChrX:79584829..85405450 [GRCh37]
ChrX:79471485..85292106 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 copy number loss See cases [RCV000051673] ChrX:81762601..86471468 [GRCh38]
ChrX:81018100..85726471 [GRCh37]
ChrX:80904756..85613127 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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_000390.4(CHM):c.1144G>T (p.Glu382Ter) single nucleotide variant not provided [RCV000171441] ChrX:85956175 [GRCh38]
ChrX:85211180 [GRCh37]
ChrX:Xq21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
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 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 copy number loss See cases [RCV000135328] ChrX:81930916..85965282 [GRCh38]
ChrX:81186415..85220287 [GRCh37]
ChrX:81073071..85106943 [NCBI36]
ChrX:Xq21.1-21.2
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 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: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 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 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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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 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 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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:85396423-87061496)x3 copy number gain See cases [RCV000138988] ChrX:85396423..87061496 [GRCh38]
ChrX:84651428..86316499 [GRCh37]
ChrX:84538084..86203155 [NCBI36]
ChrX:Xq21.1-21.31
likely benign
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 Xq21.1-21.31(chrX:80722314-92152619)x0 copy number loss See cases [RCV000139635] ChrX:80722314..92152619 [GRCh38]
ChrX:79977813..91407618 [GRCh37]
ChrX:79864469..91294274 [NCBI36]
ChrX:Xq21.1-21.31
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 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(chrX:85881568-86228805)x3 copy number gain See cases [RCV000142232] ChrX:85881568..86228805 [GRCh38]
ChrX:85136573..85483808 [GRCh37]
ChrX:85023229..85370464 [NCBI36]
ChrX:Xq21.2
uncertain significance
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 Xq21.1-21.2(chrX:85089622-85949735)x2 copy number gain See cases [RCV000143106] ChrX:85089622..85949735 [GRCh38]
ChrX:84344628..85204740 [GRCh37]
ChrX:84231284..85091396 [NCBI36]
ChrX:Xq21.1-21.2
uncertain significance
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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.116+1G>A single nucleotide variant Choroideremia [RCV000169622]|Retinal dystrophy [RCV001075041]|not provided [RCV001268402] ChrX:86027490 [GRCh38]
ChrX:85282494 [GRCh37]
ChrX:Xq21.2
pathogenic|likely pathogenic
NM_000390.4(CHM):c.957A>G (p.Thr319=) single nucleotide variant Choroideremia [RCV001274745]|not provided [RCV000180152] ChrX:85956362 [GRCh38]
ChrX:85211367 [GRCh37]
ChrX:Xq21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) single nucleotide variant Choroideremia [RCV000763635]|not provided [RCV000302207] ChrX:85958965 [GRCh38]
ChrX:85213970 [GRCh37]
ChrX:Xq21.2
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 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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_000390.4(CHM):c.1218C>A (p.Cys406Ter) single nucleotide variant not provided [RCV000578632] ChrX:85911287 [GRCh38]
ChrX:85166292 [GRCh37]
ChrX:Xq21.2
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
NM_000390.4(CHM):c.116+1G>T single nucleotide variant Retinal dystrophy [RCV001075589]|not provided [RCV000354112] ChrX:86027490 [GRCh38]
ChrX:85282494 [GRCh37]
ChrX:Xq21.2
pathogenic|likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
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_000390.4(CHM):c.351A>G (p.Ala117=) single nucleotide variant not specified [RCV000247183] ChrX:85964016 [GRCh38]
ChrX:85219021 [GRCh37]
ChrX:Xq21.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.1138C>T (p.Gln380Ter) single nucleotide variant not provided [RCV000285432] ChrX:85956181 [GRCh38]
ChrX:85211186 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1488G>A (p.Thr496=) single nucleotide variant not provided [RCV000872533]|not specified [RCV000376529] ChrX:85894210 [GRCh38]
ChrX:85149215 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.49+1G>T single nucleotide variant not provided [RCV000313760] ChrX:86047483 [GRCh38]
ChrX:85302487 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.315_318del (p.Ser105Argfs) deletion Retinal dystrophy [RCV001073362]|not provided [RCV000319155] ChrX:85964049..85964052 [GRCh38]
ChrX:85219054..85219057 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) single nucleotide variant Choroideremia [RCV001002947]|Retinal dystrophy [RCV001074621]|not provided [RCV000320612] ChrX:85958881 [GRCh38]
ChrX:85213886 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1244+8T>A single nucleotide variant Choroideremia [RCV001274743]|not provided [RCV000389318] ChrX:85911253 [GRCh38]
ChrX:85166258 [GRCh37]
ChrX:Xq21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000390.4(CHM):c.525_526del (p.Glu177fs) deletion Retinal dystrophy [RCV001073739]|not provided [RCV000355316] ChrX:85963841..85963842 [GRCh38]
ChrX:85218846..85218847 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1100G>T (p.Arg367Leu) single nucleotide variant not specified [RCV000355549] ChrX:85956219 [GRCh38]
ChrX:85211224 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.645_648TACT[1] (p.Tyr217fs) microsatellite not provided [RCV000374975] ChrX:85963715..85963718 [GRCh38]
ChrX:85218720..85218723 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.969T>A (p.Tyr323Ter) single nucleotide variant not provided [RCV000379861] ChrX:85956350 [GRCh38]
ChrX:85211355 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.117-7G>T single nucleotide variant not provided [RCV000328889] ChrX:85981816 [GRCh38]
ChrX:85236820 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.189+5A>G single nucleotide variant Choroideremia [RCV000408835] ChrX:85981732 [GRCh38]
ChrX:85236736 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.130G>T (p.Gly44Ter) single nucleotide variant not provided [RCV000259262] ChrX:85981796 [GRCh38]
ChrX:85236800 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) single nucleotide variant Retinitis pigmentosa [RCV000787565]|not provided [RCV000265578] ChrX:85958923 [GRCh38]
ChrX:85213928 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.315-4564C>G single nucleotide variant not provided [RCV000488021] ChrX:85968616 [GRCh38]
ChrX:85223621 [GRCh37]
ChrX:Xq21.2
uncertain significance
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_000390.4(CHM):c.280del (p.Thr94fs) deletion Choroideremia [RCV000625730] ChrX:85978801 [GRCh38]
ChrX:85233805 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys) single nucleotide variant not provided [RCV001052057] ChrX:85956357 [GRCh38]
ChrX:85211362 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1771-8T>C single nucleotide variant not provided [RCV000592998] ChrX:85864829 [GRCh38]
ChrX:85119834 [GRCh37]
ChrX:Xq21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000390.4(CHM):c.434C>T (p.Ser145Leu) single nucleotide variant not provided [RCV000593740] ChrX:85963933 [GRCh38]
ChrX:85218938 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.311C>G (p.Ala104Gly) single nucleotide variant not provided [RCV000875812]|not specified [RCV000591547] ChrX:85978770 [GRCh38]
ChrX:85233774 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1019C>A (p.Ser340Ter) single nucleotide variant not provided [RCV000414588] ChrX:85956300 [GRCh38]
ChrX:85211305 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del deletion Retinal dystrophy [RCV000416295] ChrX:Xq21.2 likely pathogenic
NM_000390.4(CHM):c.1437dup (p.Glu480fs) duplication not provided [RCV000412929] ChrX:85894260..85894261 [GRCh38]
ChrX:85149265..85149266 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1A>G (p.Met1Val) single nucleotide variant Choroideremia [RCV000412301] ChrX:86047532 [GRCh38]
ChrX:85302536 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) single nucleotide variant not provided [RCV000413451] ChrX:85911292 [GRCh38]
ChrX:85166297 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1342C>T (p.Gln448Ter) single nucleotide variant not provided [RCV000414063] ChrX:85901091 [GRCh38]
ChrX:85156096 [GRCh37]
ChrX:Xq21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.1771-1G>A single nucleotide variant not provided [RCV000522740] ChrX:85864822 [GRCh38]
ChrX:85119827 [GRCh37]
ChrX:Xq21.2
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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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:168546-155196888)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 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) single nucleotide variant Choroideremia [RCV001000512]|not specified [RCV000441588] ChrX:85978816 [GRCh38]
ChrX:85233820 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1100G>A (p.Arg367Gln) single nucleotide variant not provided [RCV000946242]|not specified [RCV000442531] ChrX:85956219 [GRCh38]
ChrX:85211224 [GRCh37]
ChrX:Xq21.2
benign|likely benign
NM_000390.4(CHM):c.49+5G>A single nucleotide variant not provided [RCV000419936] ChrX:86047479 [GRCh38]
ChrX:85302483 [GRCh37]
ChrX:Xq21.2
pathogenic|likely pathogenic
NM_000390.4(CHM):c.1334C>G (p.Ser445Ter) single nucleotide variant not provided [RCV000431379] ChrX:85901099 [GRCh38]
ChrX:85156104 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.133G>T (p.Gly45Ter) single nucleotide variant not provided [RCV000435190] ChrX:85981793 [GRCh38]
ChrX:85236797 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.315-4441G>C single nucleotide variant not specified [RCV000426695] ChrX:85968493 [GRCh38]
ChrX:85223498 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.315-1536A>G single nucleotide variant Abnormality of the eye [RCV000504914]|Retinal dystrophy [RCV000504724] ChrX:85965588 [GRCh38]
ChrX:85220593 [GRCh37]
ChrX:Xq21.2
likely 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
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: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 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
NM_000390.4(CHM):c.41dup (p.Gly15fs) duplication not provided [RCV000485407] ChrX:86047491..86047492 [GRCh38]
ChrX:85302495..85302496 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.866_867dup (p.Val290fs) duplication not provided [RCV000498941] ChrX:85957927..85957928 [GRCh38]
ChrX:85212932..85212933 [GRCh37]
ChrX:Xq21.2
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.1-28(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
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000390.4(CHM):c.820-2A>G single nucleotide variant Choroideremia [RCV000990895]|not provided [RCV000521080] ChrX:85957977 [GRCh38]
ChrX:85212982 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1413G>A (p.Gln471=) single nucleotide variant not provided [RCV000585239] ChrX:85900646 [GRCh38]
ChrX:85155651 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.75_77del (p.Ala26del) deletion Chorioretinal atrophy [RCV000626681] ChrX:86027530..86027532 [GRCh38]
ChrX:85282534..85282536 [GRCh37]
ChrX:Xq21.2
likely 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
NM_000390.4(CHM):c.1680del (p.Ser561fs) deletion not provided [RCV000658379] ChrX:85873142 [GRCh38]
ChrX:85128147 [GRCh37]
ChrX:Xq21.2
likely pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_000390.4(CHM):c.1511-6del deletion Choroideremia [RCV001001637] ChrX:85879069 [GRCh38]
ChrX:85134074 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.2:c.315_702del deletion Choroideremia [RCV001002949]   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:60262-155245765)x1 copy number loss not provided [RCV000753271] 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 Xq21.2-21.31(chrX:85271998-86201736)x3 copy number gain not provided [RCV000753636] ChrX:85271998..86201736 [GRCh37]
ChrX:Xq21.2-21.31
benign
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) single nucleotide variant Choroideremia [RCV001277509]|not provided [RCV000874935] ChrX:86047525 [GRCh38]
ChrX:85302529 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1437A>G (p.Ala479=) single nucleotide variant not provided [RCV000937536] ChrX:85894261 [GRCh38]
ChrX:85149266 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.819+1G>C single nucleotide variant Choroideremia [RCV001002946] ChrX:85958860 [GRCh38]
ChrX:85213865 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.660del (p.Ile221fs) deletion Choroideremia [RCV000787024] ChrX:85963707 [GRCh38]
ChrX:85218712 [GRCh37]
ChrX:Xq21.2
pathogenic
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_000390.4(CHM):c.1217G>A (p.Cys406Tyr) single nucleotide variant not provided [RCV001057385] ChrX:85911288 [GRCh38]
ChrX:85166293 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.3G>A (p.Met1Ile) single nucleotide variant Retinitis pigmentosa [RCV000787564] ChrX:86047530 [GRCh38]
ChrX:85302534 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.591T>C (p.Ser197=) single nucleotide variant not provided [RCV000942709] ChrX:85963776 [GRCh38]
ChrX:85218781 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.582A>G (p.Glu194=) single nucleotide variant Choroideremia [RCV001274748]|not provided [RCV000969806] ChrX:85963785 [GRCh38]
ChrX:85218790 [GRCh37]
ChrX:Xq21.2
benign|uncertain significance
NM_000390.4(CHM):c.18T>A (p.Pro6=) single nucleotide variant not provided [RCV000943174] ChrX:86047515 [GRCh38]
ChrX:85302519 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.483C>T (p.Ser161=) single nucleotide variant not provided [RCV000892238] ChrX:85963884 [GRCh38]
ChrX:85218889 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1713C>T (p.Asn571=) single nucleotide variant not provided [RCV000946265] ChrX:85873109 [GRCh38]
ChrX:85128114 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1245-8_1245-6del microsatellite Choroideremia [RCV001274742]|not provided [RCV000878243] ChrX:85901194..85901196 [GRCh38]
ChrX:85156199..85156201 [GRCh37]
ChrX:Xq21.2
benign|uncertain significance
NM_000390.4(CHM):c.1349+10C>T single nucleotide variant Choroideremia [RCV001274741]|not provided [RCV000871485] ChrX:85901074 [GRCh38]
ChrX:85156079 [GRCh37]
ChrX:Xq21.2
benign|uncertain significance
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) single nucleotide variant not provided [RCV000878591] ChrX:85901178 [GRCh38]
ChrX:85156183 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.820-1G>A single nucleotide variant Retinal dystrophy [RCV001075238] ChrX:85957976 [GRCh38]
ChrX:85212981 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer) deletion Retinal dystrophy [RCV001075297] ChrX:85963781 [GRCh38]
ChrX:85218786 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.535dup (p.Glu179fs) duplication Retinal dystrophy [RCV001075511] ChrX:85963831..85963832 [GRCh38]
ChrX:85218836..85218837 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NC_000023.10:g.(?_83372068)_(86924394_?)del deletion not provided [RCV001033923] ChrX:83372068..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86890775_?)del deletion not provided [RCV001033944] ChrX:82763333..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_000390.4(CHM):c.190-2A>G single nucleotide variant not provided [RCV001039352] ChrX:85978893 [GRCh38]
ChrX:85233897 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.940G>A (p.Gly314Arg) single nucleotide variant not provided [RCV001041242] ChrX:85957855 [GRCh38]
ChrX:85212860 [GRCh37]
ChrX:Xq21.2
uncertain significance
NC_000023.10:g.(?_85115185)_(85303566_?)del deletion not provided [RCV001031585] ChrX:85115185..85303566 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_83126460)_(86924394_?)del deletion not provided [RCV001032392] ChrX:83126460..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter) single nucleotide variant Retinal dystrophy [RCV001073299] ChrX:85900648 [GRCh38]
ChrX:85155653 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.926C>T (p.Pro309Leu) single nucleotide variant Choroideremia [RCV001274746]|not provided [RCV001047944] ChrX:85957869 [GRCh38]
ChrX:85212874 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1454T>G (p.Phe485Cys) single nucleotide variant not provided [RCV001066123] ChrX:85894244 [GRCh38]
ChrX:85149249 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1377A>T (p.Thr459=) single nucleotide variant not provided [RCV000995983] ChrX:85900682 [GRCh38]
ChrX:85155687 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) indel Retinal dystrophy [RCV001074196]|not provided [RCV001241864] ChrX:85900700..85900701 [GRCh38]
ChrX:85155705..85155706 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.189+1G>C single nucleotide variant Retinal dystrophy [RCV001074312] ChrX:85981736 [GRCh38]
ChrX:85236740 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.1770+2T>A single nucleotide variant Retinal dystrophy [RCV001074496] ChrX:85873050 [GRCh38]
ChrX:85128055 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NC_000023.10:g.(?_83576897)_(86924394_?)del deletion not provided [RCV001033207] ChrX:83576897..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NG_009874.2:g.141225del deletion Retinal dystrophy [RCV001075063] ChrX:85911338 [GRCh38]
ChrX:85166343 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) single nucleotide variant Choroideremia [RCV000787004]|not provided [RCV001092880] ChrX:86047511 [GRCh38]
ChrX:85302515 [GRCh37]
ChrX:Xq21.2
pathogenic|likely 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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000390.4(CHM):c.6G>T (p.Ala2=) single nucleotide variant not provided [RCV000941606] ChrX:86047527 [GRCh38]
ChrX:85302531 [GRCh37]
ChrX:Xq21.2
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000390.4(CHM):c.702+7A>G single nucleotide variant not provided [RCV000979512] ChrX:85963658 [GRCh38]
ChrX:85218663 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.1332C>T (p.Cys444=) single nucleotide variant not provided [RCV000943891] ChrX:85901101 [GRCh38]
ChrX:85156106 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) single nucleotide variant not provided [RCV000865525] ChrX:85864790 [GRCh38]
ChrX:85119795 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1920G>A (p.Lys640=) single nucleotide variant not provided [RCV000977627] ChrX:85864672 [GRCh38]
ChrX:85119677 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.1299C>T (p.Leu433=) single nucleotide variant not provided [RCV000952156] ChrX:85901134 [GRCh38]
ChrX:85156139 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.117-27dup duplication not provided [RCV000835085] ChrX:85981820..85981821 [GRCh38]
ChrX:85236824..85236825 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.162A>G (p.Gly54=) single nucleotide variant not provided [RCV000871541] ChrX:85981764 [GRCh38]
ChrX:85236768 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) single nucleotide variant Choroideremia [RCV000990892] ChrX:85873177 [GRCh38]
ChrX:85128182 [GRCh37]
ChrX:Xq21.2
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NC_000023.10:g.(?_85119615)_(85302556_?)del deletion not provided [RCV000807234] ChrX:85119615..85302556 [GRCh37]
ChrX:Xq21.2
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_000390.4(CHM):c.1573C>T (p.Gln525Ter) single nucleotide variant Choroideremia [RCV000990893] ChrX:85879001 [GRCh38]
ChrX:85134006 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.85296959_85303375inv inversion Choroideremia [RCV000787471] ChrX:86041956..86048370 [GRCh38]
ChrX:85296960..85303374 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1678A>T (p.Ile560Phe) single nucleotide variant not provided [RCV000896960] ChrX:85873144 [GRCh38]
ChrX:85128149 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.619A>G (p.Thr207Ala) single nucleotide variant not provided [RCV000979375] ChrX:85963748 [GRCh38]
ChrX:85218753 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1782T>C (p.Leu594=) single nucleotide variant Choroideremia [RCV001274739]|not provided [RCV000979833] ChrX:85864810 [GRCh38]
ChrX:85119815 [GRCh37]
ChrX:Xq21.2
likely benign|uncertain significance
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) duplication Choroideremia [RCV000990894] ChrX:85956262..85956263 [GRCh38]
ChrX:85211267..85211268 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.42_47delinsGGGAA (p.Ile14fs) indel not provided [RCV001009162] ChrX:86047486..86047491 [GRCh38]
ChrX:85302490..85302495 [GRCh37]
ChrX:Xq21.2
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
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
NM_000390.4(CHM):c.539del (p.Asn180fs) deletion Choroideremia [RCV001197084] ChrX:85963828 [GRCh38]
ChrX:85218833 [GRCh37]
ChrX:Xq21.2
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
NM_000390.4(CHM):c.819+2T>G single nucleotide variant not provided [RCV001201554] ChrX:85958859 [GRCh38]
ChrX:85213864 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.934del (p.Tyr312fs) deletion not provided [RCV001225685] ChrX:85957861 [GRCh38]
ChrX:85212866 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1351C>T (p.Gln451Ter) single nucleotide variant not provided [RCV001236950] ChrX:85900708 [GRCh38]
ChrX:85155713 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.352C>G (p.Leu118Val) single nucleotide variant not provided [RCV001242636] ChrX:85964015 [GRCh38]
ChrX:85219020 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV001242934] ChrX:86047528 [GRCh38]
ChrX:85302532 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1369del (p.Val456_Leu457insTer) deletion not provided [RCV001234923] ChrX:85900690 [GRCh38]
ChrX:85155695 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1893A>G (p.Ile631Met) single nucleotide variant not provided [RCV001223398] ChrX:85864699 [GRCh38]
ChrX:85119704 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr) single nucleotide variant not provided [RCV001218842] ChrX:85873158 [GRCh38]
ChrX:85128163 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1336del (p.Arg446fs) deletion not provided [RCV001241020] ChrX:85901097 [GRCh38]
ChrX:85156102 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.226C>T (p.Gln76Ter) single nucleotide variant not provided [RCV001212767] ChrX:85978855 [GRCh38]
ChrX:85233859 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.496_497GC[3] (p.Leu167fs) microsatellite Choroideremia [RCV001199667] ChrX:85963867..85963868 [GRCh38]
ChrX:85218872..85218873 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.141G>A (p.Trp47Ter) single nucleotide variant not provided [RCV001234034] ChrX:85981785 [GRCh38]
ChrX:85236789 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.286C>T (p.Gln96Ter) single nucleotide variant not provided [RCV001212672] ChrX:85978795 [GRCh38]
ChrX:85233799 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.419del (p.Pro140fs) deletion Choroideremia [RCV001199665] ChrX:85963948 [GRCh38]
ChrX:85218953 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) single nucleotide variant Choroideremia [RCV001199666] ChrX:85963898 [GRCh38]
ChrX:85218903 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1380T>C (p.Asp460=) single nucleotide variant Choroideremia [RCV001277503]|not provided [RCV000878126] ChrX:85900679 [GRCh38]
ChrX:85155684 [GRCh37]
ChrX:Xq21.2
benign|likely benign
NM_000390.4(CHM):c.1008T>C (p.Ile336=) single nucleotide variant Choroideremia [RCV001274744]|not provided [RCV000874751] ChrX:85956311 [GRCh38]
ChrX:85211316 [GRCh37]
ChrX:Xq21.2
benign|uncertain significance
NM_000390.4(CHM):c.1383A>C (p.Arg461Ser) single nucleotide variant not provided [RCV000952168] ChrX:85900676 [GRCh38]
ChrX:85155681 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.1641G>T (p.Leu547=) single nucleotide variant Choroideremia [RCV001274740]|not provided [RCV000872007] ChrX:85873181 [GRCh38]
ChrX:85128186 [GRCh37]
ChrX:Xq21.2
benign|likely benign
NM_000390.4(CHM):c.1116A>G (p.Pro372=) single nucleotide variant not provided [RCV000887499] ChrX:85956203 [GRCh38]
ChrX:85211208 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.1922_1933dup (p.Leu645_Gly646insGlnSerThrAsn) duplication not provided [RCV000887584] ChrX:85864658..85864659 [GRCh38]
ChrX:85119663..85119664 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1494A>G (p.Thr498=) single nucleotide variant not provided [RCV000941585] ChrX:85894204 [GRCh38]
ChrX:85149209 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.825G>A (p.Pro275=) single nucleotide variant Choroideremia [RCV001274747]|not provided [RCV000870871] ChrX:85957970 [GRCh38]
ChrX:85212975 [GRCh37]
ChrX:Xq21.2
benign|uncertain significance
NM_000390.4(CHM):c.190-5T>C single nucleotide variant not provided [RCV000979105] ChrX:85978896 [GRCh38]
ChrX:85233900 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) single nucleotide variant Choroideremia [RCV001274749]|not provided [RCV000865421] ChrX:85978843 [GRCh38]
ChrX:85233847 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.1680_1681insTAACAGACATATAAC (p.Ser561Ter) insertion not provided [RCV001212213] ChrX:85873141..85873142 [GRCh38]
ChrX:85128146..85128147 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1273C>T (p.Gln425Ter) single nucleotide variant not provided [RCV001235454] ChrX:85901160 [GRCh38]
ChrX:85156165 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1648C>G (p.Leu550Val) single nucleotide variant not provided [RCV001238781] ChrX:85873174 [GRCh38]
ChrX:85128179 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1350-15_1350-10del deletion not provided [RCV001226392] ChrX:85900719..85900724 [GRCh38]
ChrX:85155724..85155729 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1511-2A>G single nucleotide variant not provided [RCV001062736] ChrX:85879065 [GRCh38]
ChrX:85134070 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1695dup (p.Asn566Ter) duplication not provided [RCV001205899] ChrX:85873126..85873127 [GRCh38]
ChrX:85128131..85128132 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.652_655del (p.Ser218fs) deletion not provided [RCV001205977] ChrX:85963712..85963715 [GRCh38]
ChrX:85218717..85218720 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.11:g.(?_85956153)_(85956378_?)del deletion not provided [RCV001031124] ChrX:85211158..85211383 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.11:g.(?_85981737)_(86149108_?)del deletion not provided [RCV001031177] ChrX:85236741..85404112 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_85211158)_(85404112_?)dup duplication not provided [RCV001031290] ChrX:85211158..85404112 [GRCh37]
ChrX:Xq21.2
uncertain significance
NC_000023.11:g.(?_86027491)_(86047532_?)del deletion not provided [RCV001031478] ChrX:85282495..85302536 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.127T>C (p.Tyr43His) single nucleotide variant Choroideremia [RCV001277506]|not provided [RCV001240903] ChrX:85981799 [GRCh38]
ChrX:85236803 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.235_236del (p.Ile79fs) deletion not provided [RCV001206310] ChrX:85978845..85978846 [GRCh38]
ChrX:85233849..85233850 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.940+1G>T single nucleotide variant not provided [RCV001228070] ChrX:85957854 [GRCh38]
ChrX:85212859 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.29_30del (p.Asp10fs) deletion Choroideremia [RCV000990896] ChrX:86047503..86047504 [GRCh38]
ChrX:85302507..85302508 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) deletion not provided [RCV001092042] ChrX:85873167..85873171 [GRCh38]
ChrX:85128172..85128176 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter) single nucleotide variant not provided [RCV001092043] ChrX:85873178 [GRCh38]
ChrX:85128183 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1531_1532insTCTTCTAAACAGCAT (p.Thr511delinsIlePheTer) insertion not provided [RCV001092044] ChrX:85879042..85879043 [GRCh38]
ChrX:85134047..85134048 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1413+1G>T single nucleotide variant Choroideremia [RCV001199668]|not provided [RCV001092046] ChrX:85900645 [GRCh38]
ChrX:85155650 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1359del (p.Arg454fs) deletion not provided [RCV001092047] ChrX:85900700 [GRCh38]
ChrX:85155705 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.924T>G (p.Tyr308Ter) single nucleotide variant not provided [RCV001092048] ChrX:85957871 [GRCh38]
ChrX:85212876 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.645del (p.Thr216fs) deletion not provided [RCV001092049] ChrX:85963722 [GRCh38]
ChrX:85218727 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.50-1G>C single nucleotide variant not provided [RCV001092879] ChrX:86027558 [GRCh38]
ChrX:85282562 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) single nucleotide variant Choroideremia [RCV001002945] ChrX:85901119 [GRCh38]
ChrX:85156124 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.126C>G (p.Tyr42Ter) single nucleotide variant not provided [RCV001067549] ChrX:85981800 [GRCh38]
ChrX:85236804 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1349+3A>C single nucleotide variant Retinal dystrophy [RCV001073432] ChrX:85901081 [GRCh38]
ChrX:85156086 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.1463G>T (p.Arg488Leu) single nucleotide variant Retinal dystrophy [RCV001073988] ChrX:85894235 [GRCh38]
ChrX:85149240 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.971T>G (p.Leu324Ter) single nucleotide variant Retinal dystrophy [RCV001074294] ChrX:85956348 [GRCh38]
ChrX:85211353 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_84634178)_(85404112_?)del deletion not provided [RCV001033627] ChrX:84634178..85404112 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.385A>G (p.Asn129Asp) single nucleotide variant Retinal dystrophy [RCV001074936] ChrX:85963982 [GRCh38]
ChrX:85218987 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) single nucleotide variant Retinal dystrophy [RCV001074941] ChrX:85963714 [GRCh38]
ChrX:85218719 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.1094_1095del (p.Leu365fs) deletion Retinal dystrophy [RCV001075011] ChrX:85956224..85956225 [GRCh38]
ChrX:85211229..85211230 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.819+1G>A single nucleotide variant Retinal dystrophy [RCV001075027] ChrX:85958860 [GRCh38]
ChrX:85213865 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.116C>T (p.Ser39Leu) single nucleotide variant Retinal dystrophy [RCV001075030] ChrX:86027491 [GRCh38]
ChrX:85282495 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1363del (p.Ala455fs) deletion Retinal dystrophy [RCV001075183] ChrX:85900696 [GRCh38]
ChrX:85155701 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.1245-1G>T single nucleotide variant not provided [RCV001049376] ChrX:85901189 [GRCh38]
ChrX:85156194 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.776A>G (p.Asn259Ser) single nucleotide variant Retinal dystrophy [RCV001075698]|not provided [RCV001052928] ChrX:85958904 [GRCh38]
ChrX:85213909 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1718_1719del (p.Tyr573fs) deletion not provided [RCV001042551] ChrX:85873103..85873104 [GRCh38]
ChrX:85128108..85128109 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.941-3dup duplication not provided [RCV001248598] ChrX:85956380..85956381 [GRCh38]
ChrX:85211385..85211386 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.564_565del (p.Pro189fs) deletion Choroideremia [RCV001002948] ChrX:85963802..85963803 [GRCh38]
ChrX:85218807..85218808 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.2:c.315_318del deletion Retinal dystrophy [RCV001073362]|not provided [RCV001066836]   pathogenic
NC_000023.10:g.(?_85090756)_(86924394_?)del deletion not provided [RCV001032367] ChrX:85090756..86924394 [GRCh37]
ChrX:Xq21.2-21.31
pathogenic
NM_000390.4(CHM):c.481A>G (p.Ser161Gly) single nucleotide variant not provided [RCV001046170] ChrX:85963886 [GRCh38]
ChrX:85218891 [GRCh37]
ChrX:Xq21.2
uncertain significance
NC_000023.11:g.(?_85835751)_(85911338_?)dup duplication not provided [RCV001033070] ChrX:85090756..85166343 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) indel Choroideremia [RCV001199664] ChrX:85963968..85963981 [GRCh38]
ChrX:85218973..85218986 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.49+2T>C single nucleotide variant Retinal dystrophy [RCV001073288] ChrX:86047482 [GRCh38]
ChrX:85302486 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.436_439del (p.Leu146fs) deletion Retinal dystrophy [RCV001073370] ChrX:85963928..85963931 [GRCh38]
ChrX:85218933..85218936 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NC_000023.11:g.(?_85878965)_(85903741_?)del deletion not provided [RCV001033540] ChrX:85133970..85158746 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.355C>T (p.Gln119Ter) single nucleotide variant Retinal dystrophy [RCV001073539] ChrX:85964012 [GRCh38]
ChrX:85219017 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.1446del (p.Gly483fs) deletion Retinal dystrophy [RCV001073784] ChrX:85894252 [GRCh38]
ChrX:85149257 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.1246T>C (p.Cys416Arg) single nucleotide variant not provided [RCV001202261] ChrX:85901187 [GRCh38]
ChrX:85156192 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.464C>A (p.Thr155Lys) single nucleotide variant not provided [RCV001205355] ChrX:85963903 [GRCh38]
ChrX:85218908 [GRCh37]
ChrX:Xq21.2
uncertain significance
NC_000023.10:g.(?_83372068)_(86890775_?)del deletion not provided [RCV001032728] ChrX:83372068..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.11:g.(?_85864630)_(85911338_?)del deletion not provided [RCV001033782] ChrX:85119635..85166343 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_82763333)_(86924394_?)del deletion not provided [RCV001033898] ChrX:82763333..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer) deletion Retinal dystrophy [RCV001075742] ChrX:86047496 [GRCh38]
ChrX:85302500 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NC_000023.10:g.(?_85211158)_(85237732_?)dup duplication not provided [RCV001033071] ChrX:85211158..85237732 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.437_440dup (p.Thr148fs) duplication not provided [RCV001066435] ChrX:85963926..85963927 [GRCh38]
ChrX:85218931..85218932 [GRCh37]
ChrX:Xq21.2
pathogenic
NC_000023.10:g.(?_85211158)_(85237732_?)del deletion not provided [RCV001033470] ChrX:85211158..85237732 [GRCh37]
ChrX:Xq21.2
uncertain significance
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 Xq21.2(chrX:85002027-85171444)x2 copy number gain not provided [RCV001259006] ChrX:85002027..85171444 [GRCh37]
ChrX:Xq21.2
uncertain significance
GRCh37/hg19 Xq21.2(chrX:85203910-85338467)x2 copy number gain not provided [RCV001259007] ChrX:85203910..85338467 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.941-1G>T single nucleotide variant not provided [RCV001268035] ChrX:85956379 [GRCh38]
ChrX:85211384 [GRCh37]
ChrX:Xq21.2
likely pathogenic
NM_000390.4(CHM):c.262_263dup (p.Ser89fs) microsatellite not provided [RCV001268601] ChrX:85978817..85978818 [GRCh38]
ChrX:85233821..85233822 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.315-4587T>A single nucleotide variant not provided [RCV001268673] ChrX:85968639 [GRCh38]
ChrX:85223644 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) single nucleotide variant Choroideremia [RCV001277507] ChrX:86047504 [GRCh38]
ChrX:85302508 [GRCh37]
ChrX:Xq21.2
benign
NM_000390.4(CHM):c.10A>G (p.Thr4Ala) single nucleotide variant Choroideremia [RCV001277508] ChrX:86047523 [GRCh38]
ChrX:85302527 [GRCh37]
ChrX:Xq21.2
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
NM_000390.4(CHM):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV001341749] ChrX:85963999 [GRCh38]
ChrX:85219004 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.99A>T (p.Arg33Ser) single nucleotide variant not provided [RCV001308436] ChrX:86027508 [GRCh38]
ChrX:85282512 [GRCh37]
ChrX:Xq21.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000390.4(CHM):c.1609+3A>T single nucleotide variant not provided [RCV001320638] ChrX:85878962 [GRCh38]
ChrX:85133967 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.153C>A (p.Ser51Arg) single nucleotide variant not provided [RCV001338280] ChrX:85981773 [GRCh38]
ChrX:85236777 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1907C>T (p.Ser636Leu) single nucleotide variant not provided [RCV001337516] ChrX:85864685 [GRCh38]
ChrX:85119690 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.391A>G (p.Thr131Ala) single nucleotide variant not provided [RCV001325009] ChrX:85963976 [GRCh38]
ChrX:85218981 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.670G>A (p.Gly224Ser) single nucleotide variant not provided [RCV001327112] ChrX:85963697 [GRCh38]
ChrX:85218702 [GRCh37]
ChrX:Xq21.2
uncertain significance
NC_000023.10:g.(?_85090756)_(85404112_?)dup duplication not provided [RCV001294971] ChrX:85090756..85404112 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.502G>C (p.Glu168Gln) single nucleotide variant Choroideremia [RCV001277504] ChrX:85963865 [GRCh38]
ChrX:85218870 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.498G>A (p.Ala166=) single nucleotide variant Choroideremia [RCV001277505] ChrX:85963869 [GRCh38]
ChrX:85218874 [GRCh37]
ChrX:Xq21.2
likely benign
NM_000390.4(CHM):c.281C>G (p.Thr94Ser) single nucleotide variant not provided [RCV001305971] ChrX:85978800 [GRCh38]
ChrX:85233804 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1771-4C>T single nucleotide variant not provided [RCV001309840] ChrX:85864825 [GRCh38]
ChrX:85119830 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.182A>C (p.Glu61Ala) single nucleotide variant not provided [RCV001343158] ChrX:85981744 [GRCh38]
ChrX:85236748 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1595C>A (p.Thr532Asn) single nucleotide variant not provided [RCV001341772] ChrX:85878979 [GRCh38]
ChrX:85133984 [GRCh37]
ChrX:Xq21.2
uncertain significance
NM_000390.4(CHM):c.1275G>C (p.Gln425His) single nucleotide variant not provided [RCV001337223] ChrX:85901158 [GRCh38]
ChrX:85156163 [GRCh37]
ChrX:Xq21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1940 AgrOrtholog
COSMIC CHM COSMIC
Ensembl Genes ENSG00000188419 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000350386 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484306 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000357749 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615443 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188419 GTEx
HGNC ID HGNC:1940 ENTREZGENE
Human Proteome Map CHM Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDP_dissociation_inhibitor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab_escort UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1121 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1121 ENTREZGENE
OMIM 300390 OMIM
  303100 OMIM
PANTHER PTHR11787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26471 PharmGKB
PIRSF Rab_ger_ger_transf_A_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS RABESCORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABGDIREP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K545 ENTREZGENE, UniProtKB/TrEMBL
  B4DRL9 ENTREZGENE, UniProtKB/TrEMBL
  P24386 ENTREZGENE
  Q8N917_HUMAN UniProtKB/TrEMBL
  RAE1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1L4D2 UniProtKB/Swiss-Prot
  O43732 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 CHM  CHM Rab escort protein    CHM, Rab escort protein 1  Symbol and/or name change 5135510 APPROVED
2016-02-29 CHM  CHM, Rab escort protein 1    choroideremia (Rab escort protein 1)  Symbol and/or name change 5135510 APPROVED
2011-08-16 CHM  choroideremia (Rab escort protein 1)  CHM  choroideremia (Rab escort protein 1)  Symbol and/or name change 5135510 APPROVED