RPGR (retinitis pigmentosa GTPase regulator) - Rat Genome Database

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Gene: RPGR (retinitis pigmentosa GTPase regulator) Homo sapiens
Analyze
Symbol: RPGR
Name: retinitis pigmentosa GTPase regulator
RGD ID: 1352855
HGNC Page HGNC
Description: Exhibits RNA binding activity. Involved in cilium assembly and visual perception. Localizes to Golgi apparatus; centrosome; and photoreceptor outer segment. Implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: COD1; CORDX1; CRD; orf15; PCDX; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; RP15; RP3; X-linked retinitis pigmentosa GTPase regulator; XLRP3
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 EnsemblX38,269,163 - 38,327,544 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX38,269,170 - 38,327,544 (-)EnsemblGRCh38hg38GRCh38
GRCh38X38,269,163 - 38,327,509 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,128,416 - 38,186,762 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,013,367 - 38,071,732 (-)NCBINCBI36hg18NCBI36
Build 34X37,884,818 - 37,942,896NCBI
CeleraX42,266,066 - 42,324,437 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,873,257 - 35,932,248 (-)NCBIHuRef
CHM1_1X38,159,472 - 38,217,832 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal pupillary light reflex  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Absent foveal reflex  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Anteverted nares  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Atypical scarring of skin  (IAGP)
Blindness  (IAGP)
Bronchiectasis  (IAGP)
Cataract  (IAGP)
Central scotoma  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Clubbing  (IAGP)
Color vision defect  (IAGP)
Color vision test abnormality  (IAGP)
Conductive hearing impairment  (IAGP)
Cone dystrophy  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital stationary night blindness  (IAGP)
Delayed speech and language development  (IAGP)
Double outlet right ventricle  (IAGP)
Eccentric visual fixation  (IAGP)
Ectopic pregnancy  (IAGP)
Esophageal atresia  (IAGP)
Female infertility  (IAGP)
Glaucoma  (IAGP)
High-frequency hearing impairment  (IAGP)
Hydrocephalus  (IAGP)
Hyperinsulinemia  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypoautofluorescent macular lesion  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the fovea  (IAGP)
Inner retinal layer loss on macular OCT  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Keratoconus  (IAGP)
Lithoptysis  (IAGP)
Macular degeneration  (IAGP)
Macular dystrophy  (IAGP)
Male infertility  (IAGP)
Monochromacy  (IAGP)
Myopia  (IAGP)
Nasal obstruction  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Otitis media  (IAGP)
Pendular nystagmus  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Peripheral visual field loss  (IAGP)
Persistent left superior vena cava  (IAGP)
Photophobia  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Progressive night blindness  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Recurrent bronchitis  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory failure  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Sensorineural hearing impairment  (IAGP)
Situs inversus totalis  (IAGP)
Transposition of the great arteries  (IAGP)
Type II diabetes mellitus  (IAGP)
Undetectable light-adapted electroretinogram  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wheezing  (IAGP)
Wide nasal bridge  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
1. Bader I, etal., Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.
2. Brunner S, etal., Biol Reprod. 2008 Oct;79(4):608-17. doi: 10.1095/biolreprod.107.067454. Epub 2008 Jun 25.
3. Brunner S, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.
4. Chang W, etal., Mol Vis. 2007 Aug 30;13:1548-54.
5. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
6. Demirci FY, etal., Am J Hum Genet. 2002 Apr;70(4):1049-53. Epub 2002 Feb 20.
7. Dry KL, etal., Hum Mutat. 1999;13(2):141-5.
8. Fishman GA, etal., Ophthalmology. 1998 Dec;105(12):2286-96.
9. GOA_HUMAN data from the GO Consortium
10. Hong DH, etal., Invest Ophthalmol Vis Sci. 2005 Feb;46(2):435-41.
11. Hong DH, etal., Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54.
12. Jacobson SG, etal., Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.
13. Ji Y, etal., Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.
14. Liu L, etal., Chin Med J (Engl). 2002 Jun;115(6):833-6.
15. Moore A, etal., J Med Genet. 2006 Apr;43(4):326-33. Epub 2005 Jul 31.
16. OMIM Disease Annotation Pipeline
17. Pawlyk BS, etal., Hum Gene Ther. 2010 Aug;21(8):993-1004. doi: 10.1089/hum.2009.218.
18. Rebello G, etal., Clin Genet. 2003 Aug;64(2):137-41.
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Sharon D, etal., Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.
23. Shu X, etal., Hum Mutat. 2008 May;29(5):605-8. doi: 10.1002/humu.20733.
24. Thompson DA, etal., PLoS One. 2012;7(5):e35865. doi: 10.1371/journal.pone.0035865. Epub 2012 May 1.
25. Vervoort R and Wright AF, Hum Mutat. 2002 May;19(5):486-500.
26. Yang Z, etal., Hum Mol Genet. 2002 Mar 1;11(5):605-11.
Additional References at PubMed
PMID:2300556   PMID:7611300   PMID:8125298   PMID:8673101   PMID:8817343   PMID:8889548   PMID:9326322   PMID:9399904   PMID:9418727   PMID:9677393   PMID:9990021   PMID:10401007  
PMID:10480356   PMID:10482958   PMID:10737996   PMID:10932196   PMID:10958647   PMID:10958648   PMID:10970770   PMID:10980543   PMID:11104772   PMID:11180598   PMID:11702207   PMID:11754050  
PMID:11992260   PMID:12140192   PMID:12160730   PMID:12477932   PMID:12766038   PMID:12920075   PMID:14516808   PMID:14564670   PMID:14566651   PMID:14627685   PMID:15342556   PMID:15364249  
PMID:15489334   PMID:15723066   PMID:15772089   PMID:15790807   PMID:15914600   PMID:16043481   PMID:16052169   PMID:16086276   PMID:16273303   PMID:16387007   PMID:16917484   PMID:16935610  
PMID:16936086   PMID:16969763   PMID:17093403   PMID:17195164   PMID:17249551   PMID:17286855   PMID:17325176   PMID:17405150   PMID:17480003   PMID:17724181   PMID:17898302   PMID:17923551  
PMID:18029348   PMID:18188948   PMID:18332319   PMID:19218993   PMID:19429592   PMID:19430481   PMID:19460752   PMID:19815619   PMID:19834030   PMID:20064120   PMID:20090203   PMID:20238008  
PMID:20301590   PMID:20574030   PMID:20591486   PMID:20631154   PMID:20664800   PMID:20801516   PMID:20806050   PMID:21145461   PMID:21174525   PMID:21227725   PMID:21683121   PMID:21857984  
PMID:21866333   PMID:21914266   PMID:21933838   PMID:22183348   PMID:22577079   PMID:22658674   PMID:22888088   PMID:23150612   PMID:23372056   PMID:23559067   PMID:23681342   PMID:24428633  
PMID:24454928   PMID:24489377   PMID:24555744   PMID:24664734   PMID:25301933   PMID:25352739   PMID:25416956   PMID:25556114   PMID:25569437   PMID:25910212   PMID:26431479   PMID:26638075  
PMID:26871637   PMID:26936822   PMID:27173435   PMID:27323122   PMID:27798110   PMID:27911705   PMID:27995965   PMID:28172980   PMID:28294154   PMID:28514442   PMID:28814713   PMID:28986522  
PMID:29135076   PMID:29528978   PMID:29721948   PMID:29721984   PMID:29847648   PMID:30021045   PMID:30193314   PMID:30208424   PMID:30257685   PMID:30289068   PMID:30312579   PMID:30313097  
PMID:31033374   PMID:31515488   PMID:31652454   PMID:31775781   PMID:32012938   PMID:32702353   PMID:32788070   PMID:33467000  


Genomics

Comparative Map Data
RPGR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX38,269,163 - 38,327,544 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX38,269,170 - 38,327,544 (-)EnsemblGRCh38hg38GRCh38
GRCh38X38,269,163 - 38,327,509 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,128,416 - 38,186,762 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,013,367 - 38,071,732 (-)NCBINCBI36hg18NCBI36
Build 34X37,884,818 - 37,942,896NCBI
CeleraX42,266,066 - 42,324,437 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,873,257 - 35,932,248 (-)NCBIHuRef
CHM1_1X38,159,472 - 38,217,832 (-)NCBICHM1_1
Rpgr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X10,024,455 - 10,083,034 (-)NCBIGRCm39mm39
GRCm39 EnsemblX9,939,860 - 10,083,159 (-)Ensembl
GRCm38X10,158,216 - 10,216,795 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX10,073,621 - 10,216,920 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X9,735,342 - 9,793,921 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X9,315,178 - 9,373,672 (-)NCBImm8
CeleraX7,863,918 - 7,924,303 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Rpgr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X12,566,447 - 12,628,171 (+)NCBI
Rnor_6.0 EnsemblX14,271,017 - 14,331,486 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X14,271,012 - 14,331,745 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,092,648 - 15,113,954 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X15,053,729 - 15,077,792 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X24,722,378 - 24,782,679 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX13,178,490 - 13,236,459 (+)NCBICelera
Cytogenetic MapXq12NCBI
Rpgr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955601398,772 - 453,271 (-)NCBIChiLan1.0ChiLan1.0
RPGR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X38,426,895 - 38,485,140 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X30,718,669 - 30,777,671 (-)NCBIMhudiblu_PPA_v0panPan3
RPGR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X33,056,371 - 33,105,036 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX32,745,020 - 33,330,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX20,405,036 - 20,453,690 (-)NCBI
ROS_Cfam_1.0X33,082,215 - 33,156,658 (-)NCBI
UMICH_Zoey_3.1X33,184,774 - 33,233,420 (-)NCBI
UNSW_CanFamBas_1.0X33,156,625 - 33,205,531 (-)NCBI
UU_Cfam_GSD_1.0X33,198,692 - 33,247,323 (-)NCBI
Rpgr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X25,322,460 - 25,372,387 (-)NCBI
SpeTri2.0NW_0049365025,163,164 - 5,212,940 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPGR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X34,238,961 - 34,522,814 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RPGR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1930,008,681 - 30,033,475 (-)NCBI
Rpgr
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476217,135,870 - 17,199,693 (+)NCBI

Position Markers
RH66572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,128,649 - 38,128,867UniSTSGRCh37
Build 36X38,013,593 - 38,013,811RGDNCBI36
CeleraX42,266,292 - 42,266,510RGD
Cytogenetic MapXp21.1UniSTS
GeneMap99-GB4 RH MapX112.8UniSTS
DXS7560E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,128,666 - 38,128,750UniSTSGRCh37
Build 36X38,013,610 - 38,013,694RGDNCBI36
CeleraX42,266,309 - 42,266,393RGD
Cytogenetic MapXp21.1UniSTS
STS-AA026948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,136,803 - 38,136,979UniSTSGRCh37
Build 36X38,021,747 - 38,021,923RGDNCBI36
CeleraX42,274,453 - 42,274,629RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,881,245 - 35,881,421UniSTS
GeneMap99-GB4 RH MapX113.43UniSTS
AF020171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,152,811 - 38,152,905UniSTSGRCh37
Build 36X38,037,755 - 38,037,849RGDNCBI36
CeleraX42,290,460 - 42,290,554RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,897,373 - 35,897,467UniSTS
RH70678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,128,632 - 38,128,755UniSTSGRCh37
Build 36X38,013,576 - 38,013,699RGDNCBI36
CeleraX42,266,275 - 42,266,398RGD
Cytogenetic MapXp21.1UniSTS
GeneMap99-GB4 RH MapX113.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2483
Count of miRNA genes:811
Interacting mature miRNAs:950
Transcripts:ENST00000309513, ENST00000318842, ENST00000338898, ENST00000339363, ENST00000342811, ENST00000378505, ENST00000464437, ENST00000470183, ENST00000474584, ENST00000476559, ENST00000482855, ENST00000494707, ENST00000494841
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 289 94 438 5 86 6 1097 189 728 6 283 628 846 548
Low 2146 2771 1258 588 1770 430 3251 1968 3001 413 1174 984 171 358 2234 4
Below cutoff 2 126 30 30 94 29 8 39 5 3 1 3 1 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001034853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH009712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ318463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK005711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP233620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX644678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ980616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ980617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339363   ⟹   ENSP00000343671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,171 - 38,327,535 (-)Ensembl
RefSeq Acc Id: ENST00000464437   ⟹   ENSP00000417574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,298,331 - 38,301,371 (-)Ensembl
RefSeq Acc Id: ENST00000470183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,317,246 - 38,318,990 (-)Ensembl
RefSeq Acc Id: ENST00000474584   ⟹   ENSP00000418926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,520 - 38,327,506 (-)Ensembl
RefSeq Acc Id: ENST00000476559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,343 - 38,273,942 (-)Ensembl
RefSeq Acc Id: ENST00000482855   ⟹   ENSP00000419276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,349 - 38,327,422 (-)Ensembl
RefSeq Acc Id: ENST00000494707   ⟹   ENSP00000417336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,273,430 - 38,304,772 (-)Ensembl
RefSeq Acc Id: ENST00000494841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,297,308 - 38,304,831 (-)Ensembl
RefSeq Acc Id: ENST00000642170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,402 - 38,326,952 (-)Ensembl
RefSeq Acc Id: ENST00000642373   ⟹   ENSP00000496030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,304,700 - 38,327,528 (-)Ensembl
RefSeq Acc Id: ENST00000642395   ⟹   ENSP00000493468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,163 - 38,327,509 (-)Ensembl
RefSeq Acc Id: ENST00000642558   ⟹   ENSP00000496427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,298,970 - 38,327,515 (-)Ensembl
RefSeq Acc Id: ENST00000642739   ⟹   ENSP00000493596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,414 - 38,327,527 (-)Ensembl
RefSeq Acc Id: ENST00000644238   ⟹   ENSP00000496728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,402 - 38,327,515 (-)Ensembl
RefSeq Acc Id: ENST00000644337   ⟹   ENSP00000494557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,497 - 38,327,535 (-)Ensembl
RefSeq Acc Id: ENST00000645032   ⟹   ENSP00000495537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,284,408 - 38,327,509 (-)Ensembl
RefSeq Acc Id: ENST00000645124   ⟹   ENSP00000496446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,497 - 38,327,503 (-)Ensembl
RefSeq Acc Id: ENST00000646020   ⟹   ENSP00000494745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,269,527 - 38,327,528 (-)Ensembl
RefSeq Acc Id: ENST00000647261   ⟹   ENSP00000493681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,303,601 - 38,327,544 (-)Ensembl
RefSeq Acc Id: NM_000328   ⟹   NP_000319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
GRCh37X38,128,423 - 38,186,817 (-)NCBI
Build 36X38,013,367 - 38,071,732 (-)NCBI Archive
HuRefX35,873,257 - 35,932,248 (-)NCBI
CHM1_1X38,159,472 - 38,217,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001034853   ⟹   NP_001030025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,284,408 - 38,327,509 (-)NCBI
GRCh37X38,128,423 - 38,186,817 (-)NCBI
Build 36X38,028,646 - 38,071,732 (-)NCBI Archive
HuRefX35,873,257 - 35,932,248 (-)NCBI
CHM1_1X38,174,751 - 38,217,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367245   ⟹   NP_001354174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NM_001367246   ⟹   NP_001354175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NM_001367247   ⟹   NP_001354176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NM_001367248   ⟹   NP_001354177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,232 (-)NCBI
RefSeq Acc Id: NM_001367249   ⟹   NP_001354178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NM_001367250   ⟹   NP_001354179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NM_001367251   ⟹   NP_001354180
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NR_159803
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NR_159804
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NR_159805
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NR_159806
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NR_159807
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,327,509 (-)NCBI
RefSeq Acc Id: NR_159808
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,269,163 - 38,326,952 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000319   ⟸   NM_000328
- Peptide Label: isoform A
- UniProtKB: Q92834 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001030025   ⟸   NM_001034853
- Peptide Label: isoform C
- UniProtKB: Q92834 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001354178   ⟸   NM_001367249
- Peptide Label: isoform H
RefSeq Acc Id: NP_001354179   ⟸   NM_001367250
- Peptide Label: isoform I
RefSeq Acc Id: NP_001354174   ⟸   NM_001367245
- Peptide Label: isoform D
RefSeq Acc Id: NP_001354180   ⟸   NM_001367251
- Peptide Label: isoform J
RefSeq Acc Id: NP_001354175   ⟸   NM_001367246
- Peptide Label: isoform E
RefSeq Acc Id: NP_001354176   ⟸   NM_001367247
- Peptide Label: isoform F
RefSeq Acc Id: NP_001354177   ⟸   NM_001367248
- Peptide Label: isoform G
RefSeq Acc Id: ENSP00000417574   ⟸   ENST00000464437
RefSeq Acc Id: ENSP00000417336   ⟸   ENST00000494707
RefSeq Acc Id: ENSP00000419276   ⟸   ENST00000482855
RefSeq Acc Id: ENSP00000343671   ⟸   ENST00000339363
RefSeq Acc Id: ENSP00000493468   ⟸   ENST00000642395
RefSeq Acc Id: ENSP00000496030   ⟸   ENST00000642373
RefSeq Acc Id: ENSP00000493596   ⟸   ENST00000642739
RefSeq Acc Id: ENSP00000496427   ⟸   ENST00000642558
RefSeq Acc Id: ENSP00000494557   ⟸   ENST00000644337
RefSeq Acc Id: ENSP00000496728   ⟸   ENST00000644238
RefSeq Acc Id: ENSP00000418926   ⟸   ENST00000474584
RefSeq Acc Id: ENSP00000496446   ⟸   ENST00000645124
RefSeq Acc Id: ENSP00000495537   ⟸   ENST00000645032
RefSeq Acc Id: ENSP00000494745   ⟸   ENST00000646020
RefSeq Acc Id: ENSP00000493681   ⟸   ENST00000647261

Promoters
RGD ID:6809227
Promoter ID:HG_KWN:66423
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000056236
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,017,519 - 38,018,019 (-)MPROMDB
RGD ID:6809229
Promoter ID:HG_KWN:66427
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC004DEE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,049,236 - 38,049,736 (-)MPROMDB
RGD ID:6808737
Promoter ID:HG_KWN:66430
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000309513,   ENST00000338898,   ENST00000339363,   ENST00000342811,   NM_001034853,   OTTHUMT00000056234,   UC004DEA.1,   UC004DEC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X38,071,441 - 38,071,941 (-)MPROMDB
RGD ID:13605046
Promoter ID:EPDNEW_H28707
Type:initiation region
Name:RPGR_1
Description:retinitis pigmentosa GTPase regulator
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
GRCh38X38,327,509 - 38,327,569EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000328.3(RPGR):c.1826A>G (p.Asn609Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000544068] ChrX:38287173 [GRCh38]
ChrX:38146426 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.389T>G (p.Phe130Cys) single nucleotide variant Retinitis pigmentosa 15 [RCV000010575]|not provided [RCV000085105] ChrX:38318909 [GRCh38]
ChrX:38178162 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.703C>T (p.Pro235Ser) single nucleotide variant Retinitis pigmentosa 15 [RCV000010576]|not provided [RCV000085116] ChrX:38310690 [GRCh38]
ChrX:38169943 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) single nucleotide variant Retinitis pigmentosa 15 [RCV000010577]|Retinitis pigmentosa [RCV001003203]|not provided [RCV000085125] ChrX:38304746 [GRCh38]
ChrX:38163999 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|not provided
RPGR, 4-BP DEL, NT1433 deletion Retinitis pigmentosa 15 [RCV000010578] ChrX:Xp11.4 pathogenic
RPGR, IVS10DS, A-G, +3 single nucleotide variant Retinitis pigmentosa 15 [RCV000010579] ChrX:Xp11.4 pathogenic
NM_000328.3(RPGR):c.179G>T (p.Gly60Val) single nucleotide variant Primary ciliary dyskinesia [RCV000822760]|Retinal dystrophy [RCV001074755]|Retinitis pigmentosa 15 [RCV000010580]|none provided [RCV001286659]|not provided [RCV000085072] ChrX:38322921 [GRCh38]
ChrX:38182174 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
RPGR, 2-BP DEL, 652AG deletion Retinitis pigmentosa 15 [RCV000010581] ChrX:Xp11.4 pathogenic
RPGR, 2-BP DEL, NT1571 deletion Retinitis pigmentosa 15 [RCV000010582] ChrX:Xp11.4 pathogenic
RPGR, EX15ADEL deletion Retinitis pigmentosa 15 [RCV000010583] ChrX:Xp11.4 pathogenic
NM_000328.3(RPGR):c.296C>A (p.Thr99Asn) single nucleotide variant Retinitis pigmentosa 15 [RCV000010584]|not provided [RCV000085096] ChrX:38321041 [GRCh38]
ChrX:38180294 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
RPGR, 2-BP DEL, 673AG deletion Retinitis pigmentosa 15 [RCV000010585] ChrX:Xp11.4 pathogenic
NM_000328.3(RPGR):c.1905+745G>T single nucleotide variant Retinitis pigmentosa 15 [RCV000010586] ChrX:38286349 [GRCh38]
ChrX:38145602 [GRCh37]
ChrX:Xp11.4
pathogenic
RPGR, 1-BP INS, 173A insertion Retinitis pigmentosa 15 [RCV000010587] ChrX:Xp11.4 pathogenic
NM_000328.3(RPGR):c.1905+1191_1905+1192del deletion Cone dystrophy [RCV001003190]|Cone-rod dystrophy, X-linked 1 [RCV000010588]|Retinal dystrophy [RCV001074702]|Retinitis pigmentosa 15 [RCV001251568] ChrX:38285902..38285903 [GRCh38]
ChrX:38145155..38145156 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1187_1905+1188del microsatellite Cone-rod dystrophy, X-linked 1 [RCV000010589]|Retinal dystrophy [RCV001074839]|Retinitis pigmentosa 15 [RCV001251567] ChrX:38285906..38285907 [GRCh38]
ChrX:38145159..38145160 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.469+1G>T single nucleotide variant Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness [RCV000010590] ChrX:38318828 [GRCh38]
ChrX:38178081 [GRCh37]
ChrX:Xp11.4
pathogenic
RPGR, IVS15, G-T, +1164 single nucleotide variant Macular degeneration, X-linked atrophic [RCV000010591] ChrX:Xp11.4 pathogenic
RPGR, 15-BP DEL, NT694 deletion Cone-rod dystrophy, X-linked 1 [RCV000010592] ChrX:Xp11.4 pathogenic
RPGR, 2-BP DEL, 845TG deletion Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness [RCV000010593] ChrX:Xp11.4 pathogenic
NM_000328.3(RPGR):c.517G>C (p.Gly173Arg) single nucleotide variant Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness [RCV000010594] ChrX:38317418 [GRCh38]
ChrX:38176671 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+942_1905+943inv inversion Cone-rod dystrophy, X-linked 1 [RCV000010595] ChrX:38286151..38286152 [GRCh38]
ChrX:38145404..38145405 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1024G>T single nucleotide variant Cone-rod dystrophy, X-linked 1 [RCV000010596] ChrX:38286070 [GRCh38]
ChrX:38145323 [GRCh37]
ChrX:Xp11.4
pathogenic
RPGR, 57-BP DEL, NT631 deletion Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness [RCV000010597] ChrX:Xp11.4 pathogenic
RPGR, 912G-T single nucleotide variant Retinitis pigmentosa 15 [RCV000010598] ChrX:Xp11.4 pathogenic
NM_000328.3(RPGR):c.1059+363G>A single nucleotide variant Retinitis pigmentosa 15 [RCV000010599] ChrX:38300884 [GRCh38]
ChrX:38160137 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+880dup duplication not provided [RCV001291564] ChrX:38286213..38286214 [GRCh38]
ChrX:38145466..38145467 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) single nucleotide variant Primary ciliary dyskinesia [RCV000558728] ChrX:38276743 [GRCh38]
ChrX:38135996 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.894_895del (p.Ser298fs) deletion Retinitis pigmentosa [RCV000132613] ChrX:38304674..38304675 [GRCh38]
ChrX:38163927..38163928 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1680_1682ACA[1] (p.Gln561del) microsatellite Primary ciliary dyskinesia [RCV000560092] ChrX:38287929..38287931 [GRCh38]
ChrX:38147182..38147184 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1240G>C (p.Glu414Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000545395] ChrX:38298961 [GRCh38]
ChrX:38158214 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1905+500_1905+501del microsatellite Inborn genetic diseases [RCV000622673]|Retinal dystrophy [RCV001074955]|Retinitis pigmentosa 15 [RCV000076907]|Retinitis pigmentosa [RCV001003195]|not provided [RCV001008073] ChrX:38286593..38286594 [GRCh38]
ChrX:38145846..38145847 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001034853.1(RPGR):c.2257G>A (p.Gly753Arg) single nucleotide variant Malignant melanoma [RCV000073188] ChrX:38286742 [GRCh38]
ChrX:38145995 [GRCh37]
ChrX:38030939 [NCBI36]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.*177dup duplication not provided [RCV000085089] ChrX:38269448..38269449 [GRCh38]
ChrX:38128701..38128702 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1164G>A (p.Ala388=) single nucleotide variant not provided [RCV000085044]|not specified [RCV000078645] ChrX:38299037 [GRCh38]
ChrX:38158290 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001079125]|not provided [RCV000430730]|not specified [RCV000078646] ChrX:38297331 [GRCh38]
ChrX:38156584 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.155-2A>G single nucleotide variant not provided [RCV000078647] ChrX:38322947 [GRCh38]
ChrX:38182200 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.1572+11A>G single nucleotide variant not provided [RCV000085063]|not specified [RCV000078648] ChrX:38290948 [GRCh38]
ChrX:38150201 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) microsatellite Primary ciliary dyskinesia [RCV000458656]|none provided [RCV001283038]|not provided [RCV000085068]|not specified [RCV000078649] ChrX:38288033..38288035 [GRCh38]
ChrX:38147286..38147288 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.1598C>T (p.Thr533Met) single nucleotide variant Primary ciliary dyskinesia [RCV000476587]|none provided [RCV001283037]|not provided [RCV000085069]|not specified [RCV000078650] ChrX:38288016 [GRCh38]
ChrX:38147269 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.1697G>A (p.Gly566Glu) single nucleotide variant not provided [RCV000085070]|not specified [RCV000078651] ChrX:38287917 [GRCh38]
ChrX:38147170 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.29-15G>A single nucleotide variant not specified [RCV000078652] ChrX:38323539 [GRCh38]
ChrX:38182792 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.505G>T (p.Glu169Ter) single nucleotide variant Retinal dystrophy [RCV001074291]|not provided [RCV000179289] ChrX:38317430 [GRCh38]
ChrX:38176683 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.806G>A (p.Gly269Glu) single nucleotide variant not provided [RCV000180142] ChrX:38304763 [GRCh38]
ChrX:38164016 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) single nucleotide variant Primary ciliary dyskinesia [RCV000474670]|not provided [RCV000086937]|not specified [RCV000177042] ChrX:38322877 [GRCh38]
ChrX:38182130 [GRCh37]
ChrX:Xp11.4
benign|likely benign|not provided
NM_000328.3(RPGR):c.1033A>G (p.Asn345Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001084924]|not provided [RCV000085039]|not specified [RCV000253385] ChrX:38301273 [GRCh38]
ChrX:38160526 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.106G>T (p.Val36Phe) single nucleotide variant not provided [RCV000085040] ChrX:38323447 [GRCh38]
ChrX:38182700 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1092dup (p.Ala365fs) duplication Retinal dystrophy [RCV001073454]|not provided [RCV000085041] ChrX:38299108..38299109 [GRCh38]
ChrX:38158361..38158362 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.1100del (p.Pro367fs) deletion not provided [RCV000085042] ChrX:38299101 [GRCh38]
ChrX:38158354 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1120G>T (p.Glu374Ter) single nucleotide variant Retinal dystrophy [RCV001075424]|not provided [RCV000085043] ChrX:38299081 [GRCh38]
ChrX:38158334 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_000328.3(RPGR):c.1237_1238AG[5] (p.Glu416fs) microsatellite not provided [RCV000085045] ChrX:38298956..38298957 [GRCh38]
ChrX:38158209..38158210 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1245+16A>G single nucleotide variant not provided [RCV000085046]|not specified [RCV000251113] ChrX:38298940 [GRCh38]
ChrX:38158193 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.1245+3A>G single nucleotide variant Retinal dystrophy [RCV001073791]|not provided [RCV000085047] ChrX:38298953 [GRCh38]
ChrX:38158206 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_000328.3(RPGR):c.1261_1279del (p.Ser421fs) deletion not provided [RCV000085048] ChrX:38297419..38297437 [GRCh38]
ChrX:38156672..38156690 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1274G>A (p.Arg425Lys) single nucleotide variant not provided [RCV000085049]|not specified [RCV000173994] ChrX:38297424 [GRCh38]
ChrX:38156677 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.127G>A (p.Gly43Arg) single nucleotide variant not provided [RCV000085050] ChrX:38323426 [GRCh38]
ChrX:38182679 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.128G>A (p.Gly43Glu) single nucleotide variant not provided [RCV000085051] ChrX:38323425 [GRCh38]
ChrX:38182678 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1291A>G (p.Ile431Val) single nucleotide variant not provided [RCV000085052]|not specified [RCV000216291] ChrX:38297407 [GRCh38]
ChrX:38156660 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_000328.3(RPGR):c.1307G>A (p.Gly436Asp) single nucleotide variant not provided [RCV000085053] ChrX:38297391 [GRCh38]
ChrX:38156644 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1377_1378del (p.Leu460fs) deletion Retinal dystrophy [RCV001075085]|not provided [RCV000085054] ChrX:38297320..38297321 [GRCh38]
ChrX:38156573..38156574 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.1402_1405del (p.Pro468fs) deletion not provided [RCV000085055] ChrX:38297293..38297296 [GRCh38]
ChrX:38156546..38156549 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.141T>G (p.Ser47=) single nucleotide variant Primary ciliary dyskinesia [RCV001081933]|not provided [RCV000085056]|not specified [RCV000251329] ChrX:38323412 [GRCh38]
ChrX:38182665 [GRCh37]
ChrX:Xp11.4
benign|likely benign|not provided
NM_000328.3(RPGR):c.1477del (p.Gly494fs) deletion not provided [RCV000085057] ChrX:38291422 [GRCh38]
ChrX:38150675 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1478T>A (p.Leu493His) single nucleotide variant not provided [RCV000085058] ChrX:38291421 [GRCh38]
ChrX:38150674 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1507-68T>C single nucleotide variant not provided [RCV000085059] ChrX:38291092 [GRCh38]
ChrX:38150345 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1507-97T>C single nucleotide variant not provided [RCV000085060] ChrX:38291121 [GRCh38]
ChrX:38150374 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1508_1509CA[2] (p.Ile505fs) microsatellite not provided [RCV000085061] ChrX:38291018..38291019 [GRCh38]
ChrX:38150271..38150272 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.154G>T (p.Gly52Ter) single nucleotide variant not provided [RCV000085062] ChrX:38323399 [GRCh38]
ChrX:38182652 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1573-1G>A single nucleotide variant not provided [RCV000085064] ChrX:38288042 [GRCh38]
ChrX:38147295 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1573-2A>G single nucleotide variant not provided [RCV000085065] ChrX:38288043 [GRCh38]
ChrX:38147296 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.1573-8A>G single nucleotide variant not provided [RCV000085066] ChrX:38288049 [GRCh38]
ChrX:38147302 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1575_1578del (p.Lys525fs) deletion not provided [RCV000085067] ChrX:38288036..38288039 [GRCh38]
ChrX:38147289..38147292 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.2(RPGR):c.1576_1578delCAA (p.Gln527del) deletion not provided [RCV000085068] ChrX:38288036..38288038 [GRCh38]
ChrX:38147289..38147291 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1747G>T (p.Glu583Ter) single nucleotide variant not provided [RCV000085071] ChrX:38287867 [GRCh38]
ChrX:38147120 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.1835dup (p.Asn612fs) duplication not provided [RCV000085073] ChrX:38287163..38287164 [GRCh38]
ChrX:38146416..38146417 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2055A>G (p.Arg685=) single nucleotide variant not provided [RCV000085074] ChrX:38276623 [GRCh38]
ChrX:38135876 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser) single nucleotide variant not provided [RCV000085075] ChrX:38276598 [GRCh38]
ChrX:38135851 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2226G>A (p.Met742Ile) single nucleotide variant not provided [RCV000085076] ChrX:38273401 [GRCh38]
ChrX:38132654 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2259A>T (p.Arg753Ser) single nucleotide variant not provided [RCV000085077] ChrX:38269815 [GRCh38]
ChrX:38129068 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2260G>T (p.Val754Phe) single nucleotide variant not provided [RCV000085078] ChrX:38269814 [GRCh38]
ChrX:38129067 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2311del (p.Glu771fs) deletion not provided [RCV000085079] ChrX:38269763 [GRCh38]
ChrX:38129016 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2357_2358del (p.Lys786fs) deletion not provided [RCV000085080] ChrX:38269716..38269717 [GRCh38]
ChrX:38128969..38128970 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2357_2375del (p.Lys786fs) deletion not provided [RCV000085081] ChrX:38269699..38269717 [GRCh38]
ChrX:38128952..38128970 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.237_238del (p.Val81fs) deletion not provided [RCV000085082] ChrX:38322862..38322863 [GRCh38]
ChrX:38182115..38182116 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.2447_*13del (p.Ter816Xaa) deletion not provided [RCV000085083] ChrX:38269613..38269627 [GRCh38]
ChrX:38128866..38128880 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.248-2A>G single nucleotide variant Retinitis pigmentosa [RCV000787714]|not provided [RCV000085084] ChrX:38321091 [GRCh38]
ChrX:38180344 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.248-6T>A single nucleotide variant not provided [RCV000085085] ChrX:38321095 [GRCh38]
ChrX:38180348 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.*76del deletion not provided [RCV000085086] ChrX:38269550 [GRCh38]
ChrX:38128803 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.*94_*114del deletion not provided [RCV000085087] ChrX:38269512..38269532 [GRCh38]
ChrX:38128765..38128785 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.*158_*172del deletion not provided [RCV000085088] ChrX:38269454..38269468 [GRCh38]
ChrX:38128707..38128721 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.28+1G>A single nucleotide variant Retinal dystrophy [RCV001075528]|not provided [RCV000085090] ChrX:38327339 [GRCh38]
ChrX:38186592 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.28+5G>A single nucleotide variant Retinal dystrophy [RCV001074095]|not provided [RCV000085091] ChrX:38327335 [GRCh38]
ChrX:38186588 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_000328.3(RPGR):c.*372_*392dup duplication not provided [RCV000085092] ChrX:38269233..38269234 [GRCh38]
ChrX:38128486..38128487 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.2(RPGR):c.*477_*497dup duplication not provided [RCV000085093] ChrX:38269128..38269129 [GRCh38]
ChrX:38128381..38128382 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.294C>A (p.His98Gln) single nucleotide variant not provided [RCV000085094] ChrX:38321043 [GRCh38]
ChrX:38180296 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.293_294AC[3] (p.Leu100fs) microsatellite not provided [RCV000085095] ChrX:38321040..38321041 [GRCh38]
ChrX:38180293..38180294 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.2(RPGR):c.*624_*635del deletion not provided [RCV000085097] ChrX:38268991..38269002 [GRCh38]
ChrX:38128244..38128255 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.2(RPGR):c.*638_*649del deletion not provided [RCV000085098] ChrX:38268977..38268988 [GRCh38]
ChrX:38128230..38128241 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.310+1G>C single nucleotide variant not provided [RCV000085099] ChrX:38321026 [GRCh38]
ChrX:38180279 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.310+3A>G single nucleotide variant not provided [RCV000085100] ChrX:38321024 [GRCh38]
ChrX:38180277 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.2(RPGR):c.*874_*875insA insertion not provided [RCV000085101] ChrX:38268751..38268752 [GRCh38]
ChrX:38128004..38128005 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.356del (p.Leu119fs) deletion not provided [RCV000085102] ChrX:38318942 [GRCh38]
ChrX:38178195 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.372del (p.Glu125fs) deletion Retinal dystrophy [RCV001075153]|not provided [RCV000085103] ChrX:38318926 [GRCh38]
ChrX:38178179 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.379A>G (p.Arg127Gly) single nucleotide variant Retinal dystrophy [RCV001075065]|not provided [RCV000085104] ChrX:38318919 [GRCh38]
ChrX:38178172 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000328.3(RPGR):c.415G>T (p.Glu139Ter) single nucleotide variant not provided [RCV000085106] ChrX:38318883 [GRCh38]
ChrX:38178136 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.469+1G>A single nucleotide variant Retinitis pigmentosa [RCV000132611]|not provided [RCV000085107] ChrX:38318828 [GRCh38]
ChrX:38178081 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_000328.3(RPGR):c.485_486del (p.Phe162fs) deletion Cone-rod dystrophy, X-linked 1 [RCV000678626]|Retinal dystrophy [RCV001074887]|not provided [RCV000085108] ChrX:38317449..38317450 [GRCh38]
ChrX:38176702..38176703 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.486del (p.Phe162fs) deletion not provided [RCV000085109] ChrX:38317449 [GRCh38]
ChrX:38176702 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.492G>A (p.Trp164Ter) single nucleotide variant Retinal dystrophy [RCV001074192]|not provided [RCV000085110] ChrX:38317443 [GRCh38]
ChrX:38176696 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.581G>A (p.Trp194Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001043143]|not provided [RCV000085111] ChrX:38317354 [GRCh38]
ChrX:38176607 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.605C>A (p.Ser202Ter) single nucleotide variant not provided [RCV000085112] ChrX:38317330 [GRCh38]
ChrX:38176583 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.619+5G>A single nucleotide variant Primary ciliary dyskinesia [RCV001236626]|not provided [RCV000085113] ChrX:38317311 [GRCh38]
ChrX:38176564 [GRCh37]
ChrX:Xp11.4
uncertain significance|not provided
NM_000328.3(RPGR):c.620-41T>C single nucleotide variant not provided [RCV000085114]|not specified [RCV000242603] ChrX:38310814 [GRCh38]
ChrX:38170067 [GRCh37]
ChrX:Xp11.4
likely benign|not provided
NM_000328.3(RPGR):c.644G>T (p.Gly215Val) single nucleotide variant not provided [RCV000085115] ChrX:38310749 [GRCh38]
ChrX:38170002 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_000328.3(RPGR):c.706C>T (p.Gln236Ter) single nucleotide variant not provided [RCV000085117] ChrX:38310687 [GRCh38]
ChrX:38169940 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.730A>T (p.Lys244Ter) single nucleotide variant not provided [RCV000085118] ChrX:38310663 [GRCh38]
ChrX:38169916 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.732G>A (p.Lys244=) single nucleotide variant Primary ciliary dyskinesia [RCV001083777]|not provided [RCV000085119]|not specified [RCV000179749] ChrX:38310661 [GRCh38]
ChrX:38169914 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000328.3(RPGR):c.747del (p.Cys250fs) deletion not provided [RCV000085120] ChrX:38310646 [GRCh38]
ChrX:38169899 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.748T>C (p.Cys250Arg) single nucleotide variant not provided [RCV000085121] ChrX:38310645 [GRCh38]
ChrX:38169898 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.748_749TG[1] (p.Cys250fs) microsatellite not provided [RCV000085122] ChrX:38310642..38310643 [GRCh38]
ChrX:38169895..38169896 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.778+5G>A single nucleotide variant not provided [RCV000085123] ChrX:38310610 [GRCh38]
ChrX:38169863 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.779-1G>A single nucleotide variant not provided [RCV000085124] ChrX:38304791 [GRCh38]
ChrX:38164044 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.833_836del (p.Thr278fs) deletion not provided [RCV000085126] ChrX:38304733..38304736 [GRCh38]
ChrX:38163986..38163989 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.836_837del (p.Phe279fs) deletion not provided [RCV000085127] ChrX:38304732..38304733 [GRCh38]
ChrX:38163985..38163986 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.837del (p.Leu280fs) deletion not provided [RCV000085128] ChrX:38304732 [GRCh38]
ChrX:38163985 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) single nucleotide variant Primary ciliary dyskinesia [RCV001078829]|Retinitis pigmentosa [RCV000990776]|not provided [RCV000085129] ChrX:38304704 [GRCh38]
ChrX:38163957 [GRCh37]
ChrX:Xp11.4
benign|likely benign|not provided
NM_000328.3(RPGR):c.869del (p.Glu290fs) deletion not provided [RCV000085130] ChrX:38304700 [GRCh38]
ChrX:38163953 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.886_900del (p.Thr296_Ile300del) deletion not provided [RCV000085131] ChrX:38304669..38304683 [GRCh38]
ChrX:38163922..38163936 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.904T>C (p.Cys302Arg) single nucleotide variant Retinitis pigmentosa 15 [RCV001251553]|not provided [RCV000085132] ChrX:38304665 [GRCh38]
ChrX:38163918 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_000328.3(RPGR):c.905G>A (p.Cys302Tyr) single nucleotide variant not provided [RCV000085133] ChrX:38304664 [GRCh38]
ChrX:38163917 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.931A>G (p.Thr311Ala) single nucleotide variant not provided [RCV000085134] ChrX:38304638 [GRCh38]
ChrX:38163891 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.934+1G>A single nucleotide variant Retinal dystrophy [RCV001073284]|not provided [RCV000085135] ChrX:38304634 [GRCh38]
ChrX:38163887 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.934+1G>C single nucleotide variant not provided [RCV000085136] ChrX:38304634 [GRCh38]
ChrX:38163887 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.958G>A (p.Gly320Arg) single nucleotide variant not provided [RCV000085137] ChrX:38301348 [GRCh38]
ChrX:38160601 [GRCh37]
ChrX:Xp11.4
not provided
NM_000328.3(RPGR):c.101del (p.Asn34fs) deletion Retinal dystrophy [RCV001074897]|not provided [RCV000085138] ChrX:38323452 [GRCh38]
ChrX:38182705 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.980T>G (p.Leu327Ter) single nucleotide variant not provided [RCV000085139] ChrX:38301326 [GRCh38]
ChrX:38160579 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000328.3(RPGR):c.994G>T (p.Glu332Ter) single nucleotide variant not provided [RCV000085140] ChrX:38301312 [GRCh38]
ChrX:38160565 [GRCh37]
ChrX:Xp11.4
not provided
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_000328.3(RPGR):c.642_656delinsC (p.Gly215fs) indel Retinal dystrophy [RCV001073875]|not provided [RCV000179750] ChrX:38310737..38310751 [GRCh38]
ChrX:38169990..38170004 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) duplication Retinitis pigmentosa [RCV000132608] ChrX:38299113..38299114 [GRCh38]
ChrX:38158366..38158367 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+76G>T single nucleotide variant Retinitis pigmentosa [RCV000132609] ChrX:38287018 [GRCh38]
ChrX:38146271 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+1491C>T single nucleotide variant not provided [RCV000132610] ChrX:38285603 [GRCh38]
ChrX:38144856 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001086608]|not provided [RCV000132612]|not specified [RCV000591311] ChrX:38304784 [GRCh38]
ChrX:38164037 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) single nucleotide variant Retinitis pigmentosa [RCV000132614] ChrX:38304647 [GRCh38]
ChrX:38163900 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1066T>C (p.Cys356Arg) single nucleotide variant not provided [RCV000173673] ChrX:38299135 [GRCh38]
ChrX:38158388 [GRCh37]
ChrX:Xp11.4
uncertain significance
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
NM_000328.3(RPGR):c.1257A>C (p.Pro419=) single nucleotide variant not provided [RCV000173993] ChrX:38297441 [GRCh38]
ChrX:38156694 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1348T>C (p.Cys450Arg) single nucleotide variant not provided [RCV000173995] ChrX:38297350 [GRCh38]
ChrX:38156603 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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
NM_000328.3(RPGR):c.1905+1146_1905+1148del deletion not provided [RCV000514343] ChrX:38285946..38285948 [GRCh38]
ChrX:38145199..38145201 [GRCh37]
ChrX:Xp11.4
likely benign
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 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 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 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.1905+506G>A single nucleotide variant not provided [RCV000513773] ChrX:38286588 [GRCh38]
ChrX:38145841 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+521_1905+522del microsatellite Retinal dystrophy [RCV001075867]|Retinitis pigmentosa 15 [RCV001251604]|Retinitis pigmentosa [RCV000162095]|not provided [RCV001091403] ChrX:38286572..38286573 [GRCh38]
ChrX:38145825..38145826 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.777G>A (p.Thr259=) single nucleotide variant not provided [RCV000179751] ChrX:38310616 [GRCh38]
ChrX:38169869 [GRCh37]
ChrX:Xp11.4
uncertain significance
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_000328.3(RPGR):c.1905+1273_1905+1274del microsatellite Cone-rod dystrophy, X-linked 1 [RCV000198843]|Macular degeneration, X-linked atrophic [RCV001270912]|Retinal dystrophy [RCV001073955]|Retinitis pigmentosa 15 [RCV001251572]|not provided [RCV001090907] ChrX:38285820..38285821 [GRCh38]
ChrX:38145073..38145074 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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
NM_000328.3(RPGR):c.2241+11T>C single nucleotide variant not specified [RCV000222487] ChrX:38273375 [GRCh38]
ChrX:38132628 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.858C>T (p.Pro286=) single nucleotide variant Primary ciliary dyskinesia [RCV000551571] ChrX:38304711 [GRCh38]
ChrX:38163964 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+23C>G single nucleotide variant Retinal dystrophy [RCV000210316] ChrX:38287071 [GRCh38]
ChrX:38146324 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.2242-8T>C single nucleotide variant Primary ciliary dyskinesia [RCV000548368]|not specified [RCV000214859] ChrX:38269840 [GRCh38]
ChrX:38129093 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1572+3A>T single nucleotide variant Retinitis pigmentosa [RCV000515735] ChrX:38290956 [GRCh38]
ChrX:38150209 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.2(RPGR):c.-168-?_*456+?dup duplication Primary ciliary dyskinesia [RCV000230284]   uncertain significance
NM_000328.3(RPGR):c.1905+1041_1905+1046del deletion not provided [RCV000228788] ChrX:38286048..38286053 [GRCh38]
ChrX:38145301..38145306 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.155-10C>T single nucleotide variant not provided [RCV000231085] ChrX:38322955 [GRCh38]
ChrX:38182208 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) single nucleotide variant not provided [RCV000231739] ChrX:38269751 [GRCh38]
ChrX:38129004 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.908G>A (p.Gly303Glu) single nucleotide variant Retinal dystrophy [RCV000225387] ChrX:38304661 [GRCh38]
ChrX:38163914 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1572+1del deletion Retinal dystrophy [RCV000225509] ChrX:38290958 [GRCh38]
ChrX:38150211 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.808C>T (p.Gln270Ter) single nucleotide variant Retinal dystrophy [RCV000225612] ChrX:38304761 [GRCh38]
ChrX:38164014 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+594T>G single nucleotide variant Primary ciliary dyskinesia [RCV000231215] ChrX:38286500 [GRCh38]
ChrX:38145753 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+636_1905+656del microsatellite not provided [RCV000234077] ChrX:38286438..38286458 [GRCh38]
ChrX:38145691..38145711 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1630A>G (p.Ser544Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000233819] ChrX:38287984 [GRCh38]
ChrX:38147237 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+701_1905+715del deletion Primary ciliary dyskinesia [RCV000228907]|not provided [RCV000419434] ChrX:38286379..38286393 [GRCh38]
ChrX:38145632..38145646 [GRCh37]
ChrX:Xp11.4
benign
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) single nucleotide variant Retinal dystrophy [RCV001075427]|Retinitis pigmentosa [RCV001199550]|not provided [RCV000487612] ChrX:38321038 [GRCh38]
ChrX:38180291 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|uncertain significance
NM_000328.3(RPGR):c.905G>C (p.Cys302Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001079787]|not provided [RCV000443150]|not specified [RCV000246205] ChrX:38304664 [GRCh38]
ChrX:38163917 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000328.3(RPGR):c.1905+436G>A single nucleotide variant not provided [RCV000828504]|not specified [RCV000248693] ChrX:38286658 [GRCh38]
ChrX:38145911 [GRCh37]
ChrX:Xp11.4
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
NM_000328.3(RPGR):c.552G>T (p.Gln184His) single nucleotide variant Primary ciliary dyskinesia [RCV000459428]|not specified [RCV000251248] ChrX:38317383 [GRCh38]
ChrX:38176636 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1905+615GGAGGGGGAAGAGGAGGAAGG[3] microsatellite not specified [RCV000253652] ChrX:38286437..38286438 [GRCh38]
ChrX:38145690..38145691 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000456928]|not specified [RCV000253894] ChrX:38269772 [GRCh38]
ChrX:38129025 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.2149+46C>T single nucleotide variant not specified [RCV000253957] ChrX:38275043 [GRCh38]
ChrX:38134296 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1200T>C (p.Asn400=) single nucleotide variant not specified [RCV000247379] ChrX:38299001 [GRCh38]
ChrX:38158254 [GRCh37]
ChrX:Xp11.4
likely benign
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_000328.3(RPGR):c.1905+318G>A single nucleotide variant not specified [RCV000245344] ChrX:38286776 [GRCh38]
ChrX:38146029 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1059+6G>A single nucleotide variant Primary ciliary dyskinesia [RCV000530659]|not specified [RCV000245383] ChrX:38301241 [GRCh38]
ChrX:38160494 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000328.3(RPGR):c.1245+6A>G single nucleotide variant Primary ciliary dyskinesia [RCV000813490]|not specified [RCV000243111] ChrX:38298950 [GRCh38]
ChrX:38158203 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_000328.3(RPGR):c.155-13del deletion not specified [RCV000243289] ChrX:38322958 [GRCh38]
ChrX:38182211 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+636G>A single nucleotide variant not specified [RCV000245674] ChrX:38286458 [GRCh38]
ChrX:38145711 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+762_1905+764del deletion not specified [RCV000250625] ChrX:38286330..38286332 [GRCh38]
ChrX:38145583..38145585 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1296A>T (p.Glu432Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000466423]|not specified [RCV000243438] ChrX:38297402 [GRCh38]
ChrX:38156655 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1059+25T>C single nucleotide variant not specified [RCV000248362] ChrX:38301222 [GRCh38]
ChrX:38160475 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1084G>A (p.Val362Ile) single nucleotide variant not specified [RCV000250745] ChrX:38299117 [GRCh38]
ChrX:38158370 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+1406dup duplication Retinal dystrophy [RCV001073428]|Retinitis pigmentosa 15 [RCV001251575]|not provided [RCV000371220] ChrX:38285681..38285682 [GRCh38]
ChrX:38144934..38144935 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1387C>T (p.Gln463Ter) single nucleotide variant Retinal dystrophy [RCV001074090]|not provided [RCV000395068] ChrX:38297311 [GRCh38]
ChrX:38156564 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1709C>T (p.Thr570Met) single nucleotide variant not provided [RCV000367495] ChrX:38287905 [GRCh38]
ChrX:38147158 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+565_1905+566del deletion Retinitis pigmentosa 15 [RCV001270916] ChrX:38286528..38286529 [GRCh38]
ChrX:38145781..38145782 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+666del deletion not provided [RCV000585251] ChrX:38286428 [GRCh38]
ChrX:38145681 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+982del deletion Retinitis pigmentosa [RCV001199548]|not provided [RCV000487721] ChrX:38286112 [GRCh38]
ChrX:38145365 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1905+441del deletion Retinitis pigmentosa [RCV001199537]|not provided [RCV000488008] ChrX:38286653 [GRCh38]
ChrX:38145906 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000328.3(RPGR):c.1905+993G>A single nucleotide variant not provided [RCV000488224] ChrX:38286101 [GRCh38]
ChrX:38145354 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.467C>T (p.Thr156Ile) single nucleotide variant not provided [RCV000488310] ChrX:38318831 [GRCh38]
ChrX:38178084 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.983del (p.Gly328fs) deletion Retinitis pigmentosa 15 [RCV000625592] ChrX:38301323 [GRCh38]
ChrX:38160576 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.617C>T (p.Thr206Ile) single nucleotide variant not provided [RCV000520033] ChrX:38317318 [GRCh38]
ChrX:38176571 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1145A>T (p.Asp382Val) single nucleotide variant not provided [RCV000592660] ChrX:38299056 [GRCh38]
ChrX:38158309 [GRCh37]
ChrX:Xp11.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000328.3(RPGR):c.2133C>T (p.Tyr711=) single nucleotide variant Primary ciliary dyskinesia [RCV000629647] ChrX:38275105 [GRCh38]
ChrX:38134358 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1054_1058del (p.Lys352fs) deletion not provided [RCV000627566] ChrX:38301248..38301252 [GRCh38]
ChrX:38160501..38160505 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1176_1905+1186del deletion not provided [RCV000585515] ChrX:38285908..38285918 [GRCh38]
ChrX:38145161..38145171 [GRCh37]
ChrX:Xp11.4
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000328.3(RPGR):c.1905+880G>T single nucleotide variant not provided [RCV000415877] ChrX:38286214 [GRCh38]
ChrX:38145467 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.36T>G (p.Gly12=) single nucleotide variant not provided [RCV000594237] ChrX:38323517 [GRCh38]
ChrX:38182770 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.154G>A (p.Gly52Arg) single nucleotide variant Retinal dystrophy [RCV001073452]|not provided [RCV000728997] ChrX:38323399 [GRCh38]
ChrX:38182652 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) single nucleotide variant not specified [RCV000594677] ChrX:38269807 [GRCh38]
ChrX:38129060 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.633del (p.Tyr212fs) deletion Congenital stationary night blindness [RCV000504795] ChrX:38310760 [GRCh38]
ChrX:38170013 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1368_1369AG[2] (p.Ser458fs) microsatellite Retinitis pigmentosa [RCV000504876] ChrX:38297325..38297326 [GRCh38]
ChrX:38156578..38156579 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.1905+414AG[2] microsatellite Retinal dystrophy [RCV001074258]|Retinitis pigmentosa 15 [RCV001251592]|Retinitis pigmentosa [RCV000504905]|not provided [RCV001008809] ChrX:38286675..38286676 [GRCh38]
ChrX:38145928..38145929 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) deletion Retinitis pigmentosa [RCV000504954] ChrX:38287102..38287105 [GRCh38]
ChrX:38146355..38146358 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.779-3C>A single nucleotide variant Retinitis pigmentosa [RCV000504988] ChrX:38304793 [GRCh38]
ChrX:38164046 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1237A>T (p.Arg413Ter) single nucleotide variant Retinitis pigmentosa [RCV000505049] ChrX:38298964 [GRCh38]
ChrX:38158217 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1393del (p.Leu465fs) deletion Retinitis pigmentosa [RCV000505061] ChrX:38297305 [GRCh38]
ChrX:38156558 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+331_1905+332del microsatellite Retinal dystrophy [RCV001074872]|Retinitis pigmentosa 15 [RCV000678620]|Retinitis pigmentosa [RCV000505150]|not provided [RCV000599226] ChrX:38286762..38286763 [GRCh38]
ChrX:38146015..38146016 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1548G>T single nucleotide variant Macular dystrophy [RCV000505167] ChrX:38285546 [GRCh38]
ChrX:38144799 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.914dup (p.Asn305fs) duplication Retinitis pigmentosa [RCV000505110] ChrX:38304654..38304655 [GRCh38]
ChrX:38163907..38163908 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.565G>A (p.Gly189Arg) single nucleotide variant not provided [RCV000424976] ChrX:38317370 [GRCh38]
ChrX:38176623 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) single nucleotide variant Retinitis pigmentosa [RCV000504699] ChrX:38291470 [GRCh38]
ChrX:38150723 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+345_1905+346del microsatellite Retinitis pigmentosa [RCV000504714] ChrX:38286748..38286749 [GRCh38]
ChrX:38146001..38146002 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) single nucleotide variant Retinitis pigmentosa [RCV000504753] ChrX:38323427 [GRCh38]
ChrX:38182680 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4(chrX:38135974-38957292)x1 copy number loss See cases [RCV000447940] ChrX:38135974..38957292 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1399C>A (p.Gln467Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000473923] ChrX:38297299 [GRCh38]
ChrX:38156552 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000328.3(RPGR):c.1905+1525G>A single nucleotide variant not specified [RCV000454379] ChrX:38285569 [GRCh38]
ChrX:38144822 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.153C>T (p.Thr51=) single nucleotide variant Primary ciliary dyskinesia [RCV000467190] ChrX:38323400 [GRCh38]
ChrX:38182653 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1710G>A (p.Thr570=) single nucleotide variant Primary ciliary dyskinesia [RCV000467354]|not provided [RCV001092669] ChrX:38287904 [GRCh38]
ChrX:38147157 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000328.3(RPGR):c.1905+1155_1905+1166del deletion not specified [RCV000454663] ChrX:38285928..38285939 [GRCh38]
ChrX:38145181..38145192 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1905+1326T>A single nucleotide variant not specified [RCV000455013] ChrX:38285768 [GRCh38]
ChrX:38145021 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+1359G>A single nucleotide variant not specified [RCV000455134] ChrX:38285735 [GRCh38]
ChrX:38144988 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) single nucleotide variant not provided [RCV000460538] ChrX:38275092 [GRCh38]
ChrX:38134345 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.452C>T (p.Thr151Ile) single nucleotide variant Primary ciliary dyskinesia [RCV000464431] ChrX:38318846 [GRCh38]
ChrX:38178099 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1708A>G (p.Thr570Ala) single nucleotide variant Primary ciliary dyskinesia [RCV000468234] ChrX:38287906 [GRCh38]
ChrX:38147159 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+542_1905+556del microsatellite Primary ciliary dyskinesia [RCV000475821] ChrX:38286538..38286552 [GRCh38]
ChrX:38145791..38145805 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+1051_1905+1052insA insertion not specified [RCV000455457] ChrX:38286042..38286043 [GRCh38]
ChrX:38145295..38145296 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.603T>C (p.His201=) single nucleotide variant not provided [RCV000472476] ChrX:38317332 [GRCh38]
ChrX:38176585 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1749A>G (p.Glu583=) single nucleotide variant Primary ciliary dyskinesia [RCV000457643] ChrX:38287865 [GRCh38]
ChrX:38147118 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+1314C>T single nucleotide variant not specified [RCV000455729] ChrX:38285780 [GRCh38]
ChrX:38145033 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1366C>T (p.Gln456Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000473079] ChrX:38297332 [GRCh38]
ChrX:38156585 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+349del deletion not specified [RCV000456030] ChrX:38286745 [GRCh38]
ChrX:38145998 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2 copy number gain See cases [RCV000510479] ChrX:37584811..38467647 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000328.3(RPGR):c.1187dup (p.Leu396fs) duplication not provided [RCV000498480] ChrX:38299013..38299014 [GRCh38]
ChrX:38158266..38158267 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.1508C>G (p.Thr503Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001231617] ChrX:38291023 [GRCh38]
ChrX:38150276 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000328.3(RPGR):c.1905+511G>T single nucleotide variant Retinitis pigmentosa [RCV001199539]|not provided [RCV000585628] ChrX:38286583 [GRCh38]
ChrX:38145836 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.222C>T (p.Ala74=) single nucleotide variant Primary ciliary dyskinesia [RCV000538173] ChrX:38322878 [GRCh38]
ChrX:38182131 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1905+429_1905+431del microsatellite not provided [RCV000515047] ChrX:38286663..38286665 [GRCh38]
ChrX:38145916..38145918 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+630_1905+653del deletion not provided [RCV000514103] ChrX:38286441..38286464 [GRCh38]
ChrX:38145694..38145717 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+700G>T single nucleotide variant Retinitis pigmentosa [RCV001199544]|not provided [RCV000584983] ChrX:38286394 [GRCh38]
ChrX:38145647 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys) single nucleotide variant not provided [RCV000585231] ChrX:38269742 [GRCh38]
ChrX:38128995 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) single nucleotide variant Primary ciliary dyskinesia [RCV000526637] ChrX:38269709 [GRCh38]
ChrX:38128962 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.778+13T>A single nucleotide variant not specified [RCV000611569] ChrX:38310602 [GRCh38]
ChrX:38169855 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1754-10C>G single nucleotide variant Primary ciliary dyskinesia [RCV000533849] ChrX:38287255 [GRCh38]
ChrX:38146508 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.752G>A (p.Gly251Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000536819] ChrX:38310641 [GRCh38]
ChrX:38169894 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_000328.3(RPGR):c.1905+1502G>A single nucleotide variant not provided [RCV000514081] ChrX:38285592 [GRCh38]
ChrX:38144845 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+742G>T single nucleotide variant Retinitis pigmentosa [RCV001199546]|not provided [RCV000512810] ChrX:38286352 [GRCh38]
ChrX:38145605 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1099C>G (p.Pro367Ala) single nucleotide variant Primary ciliary dyskinesia [RCV000629578] ChrX:38299102 [GRCh38]
ChrX:38158355 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000328.3(RPGR):c.1905+959G>A single nucleotide variant not provided [RCV000513498] ChrX:38286135 [GRCh38]
ChrX:38145388 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.255del (p.Lys85fs) deletion Retinitis pigmentosa [RCV001199543]|not provided [RCV000659151] ChrX:38321082 [GRCh38]
ChrX:38180335 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) single nucleotide variant Retinitis pigmentosa [RCV001199811]|not provided [RCV000659152] ChrX:38323420 [GRCh38]
ChrX:38182673 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.578_588del (p.Ser193fs) deletion Retinitis pigmentosa [RCV000714294] ChrX:38317347..38317357 [GRCh38]
ChrX:38176600..38176610 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1671del (p.Ala558fs) deletion Retinitis pigmentosa 15 [RCV000678619] ChrX:38287943 [GRCh38]
ChrX:38147196 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+479del deletion Retinal dystrophy [RCV001074629]|Retinitis pigmentosa 15 [RCV000678621]|Retinitis pigmentosa [RCV000761348] ChrX:38286615 [GRCh38]
ChrX:38145868 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.248-28_248-10del deletion Retinitis pigmentosa 15 [RCV000678622] ChrX:38321099..38321117 [GRCh38]
ChrX:38180352..38180370 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+1042G>T single nucleotide variant Retinal dystrophy [RCV000678623] ChrX:38286052 [GRCh38]
ChrX:38145305 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1088_1905+1091del deletion Retinitis pigmentosa 15 [RCV000678624] ChrX:38286003..38286006 [GRCh38]
ChrX:38145256..38145259 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.423del (p.Ile142fs) deletion Retinitis pigmentosa 15 [RCV000678625] ChrX:38318875 [GRCh38]
ChrX:38178128 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
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
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000328.3(RPGR):c.1905+885_1905+886del deletion Retinitis pigmentosa 15 [RCV001270914]|Retinitis pigmentosa [RCV001003193]|not provided [RCV001090913] ChrX:38286208..38286209 [GRCh38]
ChrX:38145461..38145462 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.494G>A (p.Gly165Asp) single nucleotide variant Retinitis pigmentosa [RCV001003205] ChrX:38317441 [GRCh38]
ChrX:38176694 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.259G>T (p.Glu87Ter) single nucleotide variant Retinitis pigmentosa [RCV001003206] ChrX:38321078 [GRCh38]
ChrX:38180331 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.202G>C (p.Gly68Arg) single nucleotide variant Retinitis pigmentosa [RCV001003207] ChrX:38322898 [GRCh38]
ChrX:38182151 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.619+6A>G single nucleotide variant not provided [RCV000861632] ChrX:38317310 [GRCh38]
ChrX:38176563 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1414+5C>T single nucleotide variant Primary ciliary dyskinesia [RCV000862174] ChrX:38297279 [GRCh38]
ChrX:38156532 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+537_1905+540del deletion Retinal dystrophy [RCV001074961]|Retinitis pigmentosa 15 [RCV000760973]|not provided [RCV001172203] ChrX:38286554..38286557 [GRCh38]
ChrX:38145807..38145810 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+600_1905+601del deletion Retinitis pigmentosa 15 [RCV000760974] ChrX:38286493..38286494 [GRCh38]
ChrX:38145746..38145747 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.-16C>T single nucleotide variant not provided [RCV000756602] ChrX:38327383 [GRCh38]
ChrX:38186636 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000328.3(RPGR):c.1905+1508A>G single nucleotide variant not provided [RCV000762618] ChrX:38285586 [GRCh38]
ChrX:38144839 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+990dup duplication Retinitis pigmentosa [RCV001199549]|not provided [RCV000762619] ChrX:38286099..38286100 [GRCh38]
ChrX:38145352..38145353 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.248-7T>C single nucleotide variant not provided [RCV000762620] ChrX:38321096 [GRCh38]
ChrX:38180349 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+736G>T single nucleotide variant not provided [RCV000760756] ChrX:38286358 [GRCh38]
ChrX:38145611 [GRCh37]
ChrX:Xp11.4
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NC_000023.11:g.(?_38269606)_(38421102_?)del deletion Primary ciliary dyskinesia [RCV001031696] ChrX:38128859..38280355 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1731dup (p.Ala578fs) duplication Retinitis pigmentosa [RCV000787710] ChrX:38287882..38287883 [GRCh38]
ChrX:38147135..38147136 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+1468C>T single nucleotide variant Retinitis pigmentosa [RCV001199554]|not provided [RCV000999390] ChrX:38285626 [GRCh38]
ChrX:38144879 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000866323] ChrX:38269750 [GRCh38]
ChrX:38129003 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1608A>T (p.Thr536=) single nucleotide variant not provided [RCV000867306] ChrX:38288006 [GRCh38]
ChrX:38147259 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.780G>T (p.Glu260Asp) single nucleotide variant Esophageal atresia [RCV000984675] ChrX:38304789 [GRCh38]
ChrX:38164042 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.443G>A (p.Gly148Glu) single nucleotide variant Retinal dystrophy [RCV001075381] ChrX:38318855 [GRCh38]
ChrX:38178108 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1538del (p.Lys513fs) deletion Retinal dystrophy [RCV001075426] ChrX:38290993 [GRCh38]
ChrX:38150246 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+241G>T single nucleotide variant Retinal dystrophy [RCV001075438]|Retinitis pigmentosa 15 [RCV001251580] ChrX:38286853 [GRCh38]
ChrX:38146106 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.382_383del (p.Asn128fs) deletion Retinal dystrophy [RCV001075446] ChrX:38318915..38318916 [GRCh38]
ChrX:38178168..38178169 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.310+7T>G single nucleotide variant Retinal dystrophy [RCV001075456] ChrX:38321020 [GRCh38]
ChrX:38180273 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1126G>T (p.Glu376Ter) single nucleotide variant Retinal dystrophy [RCV001075575] ChrX:38299075 [GRCh38]
ChrX:38158328 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+612_1905+613del deletion Retinal dystrophy [RCV001075588]|Retinitis pigmentosa 15 [RCV001251612] ChrX:38286481..38286482 [GRCh38]
ChrX:38145734..38145735 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.168_169del (p.Tyr57fs) deletion Retinal dystrophy [RCV001075652] ChrX:38322931..38322932 [GRCh38]
ChrX:38182184..38182185 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+514G>T single nucleotide variant Retinal dystrophy [RCV001075737]|Retinitis pigmentosa 15 [RCV001251602] ChrX:38286580 [GRCh38]
ChrX:38145833 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+661dup duplication Retinal dystrophy [RCV001075844]|Retinitis pigmentosa 15 [RCV001251616] ChrX:38286430..38286431 [GRCh38]
ChrX:38145683..38145684 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1905+1199_1905+1200del microsatellite Retinal dystrophy [RCV001073989]|Retinitis pigmentosa 15 [RCV001251569]|Retinitis pigmentosa [RCV000990770] ChrX:38285894..38285895 [GRCh38]
ChrX:38145147..38145148 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1905+1082AAG[2] microsatellite Retinitis pigmentosa [RCV000990771] ChrX:38286004..38286006 [GRCh38]
ChrX:38145257..38145259 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+617del deletion Retinitis pigmentosa [RCV000990772] ChrX:38286477 [GRCh38]
ChrX:38145730 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+280G>T single nucleotide variant Retinitis pigmentosa [RCV000990773] ChrX:38286814 [GRCh38]
ChrX:38146067 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+118G>T single nucleotide variant Retinitis pigmentosa [RCV000990774] ChrX:38286976 [GRCh38]
ChrX:38146229 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.957del (p.Phe319fs) deletion Retinitis pigmentosa [RCV000990775] ChrX:38301349 [GRCh38]
ChrX:38160602 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.749G>A (p.Cys250Tyr) single nucleotide variant Retinitis pigmentosa [RCV000990777] ChrX:38310644 [GRCh38]
ChrX:38169897 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.389_390del (p.Phe130fs) deletion Retinitis pigmentosa [RCV000990778] ChrX:38318908..38318909 [GRCh38]
ChrX:38178161..38178162 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.310+1_310+2insGGTGCTCAACCT insertion Retinitis pigmentosa [RCV000990779] ChrX:38321025..38321026 [GRCh38]
ChrX:38180278..38180279 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.310G>T (p.Glu104Ter) single nucleotide variant Retinitis pigmentosa [RCV000990780] ChrX:38321027 [GRCh38]
ChrX:38180280 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.280T>C (p.Cys94Arg) single nucleotide variant Retinitis pigmentosa [RCV000990781] ChrX:38321057 [GRCh38]
ChrX:38180310 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.194G>A (p.Gly65Asp) single nucleotide variant Retinitis pigmentosa [RCV000990782] ChrX:38322906 [GRCh38]
ChrX:38182159 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+596_1905+617del deletion Retinal dystrophy [RCV001073231]|Retinitis pigmentosa 15 [RCV001251608] ChrX:38286477..38286498 [GRCh38]
ChrX:38145730..38145751 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+346A>T single nucleotide variant Retinal dystrophy [RCV001073293]|Retinitis pigmentosa 15 [RCV001251585] ChrX:38286748 [GRCh38]
ChrX:38146001 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+809_1905+810del deletion Retinal dystrophy [RCV001073297]|Retinitis pigmentosa 15 [RCV001251520] ChrX:38286284..38286285 [GRCh38]
ChrX:38145537..38145538 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+233del deletion Retinal dystrophy [RCV001073317]|Retinitis pigmentosa 15 [RCV001251579] ChrX:38286861 [GRCh38]
ChrX:38146114 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+1350del deletion Retinitis pigmentosa 15 [RCV001251573] ChrX:38285744 [GRCh38]
ChrX:38144997 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+136_1905+137del deletion Retinal dystrophy [RCV001073361]|Retinitis pigmentosa 15 [RCV001251562] ChrX:38286957..38286958 [GRCh38]
ChrX:38146210..38146211 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+611_1905+615del deletion Retinal dystrophy [RCV001073445]|Retinitis pigmentosa 15 [RCV001251611] ChrX:38286479..38286483 [GRCh38]
ChrX:38145732..38145736 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.247+5G>A single nucleotide variant Retinal dystrophy [RCV001073448] ChrX:38322848 [GRCh38]
ChrX:38182101 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+352_1905+355del microsatellite Retinal dystrophy [RCV001073455]|Retinitis pigmentosa 15 [RCV001251587] ChrX:38286739..38286742 [GRCh38]
ChrX:38145992..38145995 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1663G>T (p.Glu555Ter) single nucleotide variant Retinal dystrophy [RCV001073475] ChrX:38287951 [GRCh38]
ChrX:38147204 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_000328.3(RPGR):c.484_486del (p.Phe162del) deletion Retinal dystrophy [RCV001073534] ChrX:38317449..38317451 [GRCh38]
ChrX:38176702..38176704 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1840_1843dup (p.Val615fs) duplication Retinal dystrophy [RCV001073559] ChrX:38287155..38287156 [GRCh38]
ChrX:38146408..38146409 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.203G>T (p.Gly68Val) single nucleotide variant Retinal dystrophy [RCV001073567] ChrX:38322897 [GRCh38]
ChrX:38182150 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.335G>A (p.Gly112Asp) single nucleotide variant Retinal dystrophy [RCV001073580] ChrX:38318963 [GRCh38]
ChrX:38178216 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+583G>T single nucleotide variant Retinitis pigmentosa 15 [RCV001251607] ChrX:38286511 [GRCh38]
ChrX:38145764 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+703G>T single nucleotide variant Retinal dystrophy [RCV001073787] ChrX:38286391 [GRCh38]
ChrX:38145644 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+856dup duplication Retinal dystrophy [RCV001073819]|Retinitis pigmentosa 15 [RCV001251525] ChrX:38286234..38286235 [GRCh38]
ChrX:38145487..38145488 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+750_1905+751del deletion Retinal dystrophy [RCV001073853]|Retinitis pigmentosa 15 [RCV001270915] ChrX:38286343..38286344 [GRCh38]
ChrX:38145596..38145597 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.198G>C (p.Gln66His) single nucleotide variant Retinal dystrophy [RCV001073868] ChrX:38322902 [GRCh38]
ChrX:38182155 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1060-2A>G single nucleotide variant Retinal dystrophy [RCV001073891] ChrX:38299143 [GRCh38]
ChrX:38158396 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+1012G>T single nucleotide variant Retinal dystrophy [RCV001073899]|Retinitis pigmentosa 15 [RCV001251534] ChrX:38286082 [GRCh38]
ChrX:38145335 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+512A>G single nucleotide variant Retinal dystrophy [RCV001074030]|Retinitis pigmentosa 15 [RCV001251601] ChrX:38286582 [GRCh38]
ChrX:38145835 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+638del deletion Retinal dystrophy [RCV001074135]|Retinitis pigmentosa 15 [RCV001251614]|not provided [RCV001091400] ChrX:38286456 [GRCh38]
ChrX:38145709 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+154G>T single nucleotide variant Retinal dystrophy [RCV001074138]|Retinitis pigmentosa 15 [RCV001251563] ChrX:38286940 [GRCh38]
ChrX:38146193 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.493G>C (p.Gly165Arg) single nucleotide variant Retinal dystrophy [RCV001074182] ChrX:38317442 [GRCh38]
ChrX:38176695 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+790G>T single nucleotide variant Retinal dystrophy [RCV001074199]|Retinitis pigmentosa 15 [RCV001251621] ChrX:38286304 [GRCh38]
ChrX:38145557 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1187del deletion Retinal dystrophy [RCV001074314]|Retinitis pigmentosa 15 [RCV001251566]|not provided [RCV001090908] ChrX:38285907 [GRCh38]
ChrX:38145160 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1134_1905+1135del deletion Retinal dystrophy [RCV001074370]|Retinitis pigmentosa 15 [RCV001251543] ChrX:38285959..38285960 [GRCh38]
ChrX:38145212..38145213 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+455_1905+457del deletion Retinal dystrophy [RCV001074466] ChrX:38286637..38286639 [GRCh38]
ChrX:38145890..38145892 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+213_1905+285dup duplication Retinal dystrophy [RCV001074589]|Retinitis pigmentosa 15 [RCV001251577] ChrX:38286808..38286809 [GRCh38]
ChrX:38146061..38146062 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+329_1905+332del deletion Retinal dystrophy [RCV001074593]|Retinitis pigmentosa 15 [RCV001251583] ChrX:38286762..38286765 [GRCh38]
ChrX:38146015..38146018 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1677T>A (p.Cys559Ter) single nucleotide variant Retinal dystrophy [RCV001074928] ChrX:38287937 [GRCh38]
ChrX:38147190 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+127_1905+129delinsAA indel Retinal dystrophy [RCV001074932] ChrX:38286965..38286967 [GRCh38]
ChrX:38146218..38146220 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+696_1905+697del deletion Retinal dystrophy [RCV001075056]|Retinitis pigmentosa 15 [RCV001251618] ChrX:38286397..38286398 [GRCh38]
ChrX:38145650..38145651 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1753G>A (p.Glu585Lys) single nucleotide variant Retinal dystrophy [RCV001075140] ChrX:38287861 [GRCh38]
ChrX:38147114 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+682del deletion Retinal dystrophy [RCV001075178]|Retinitis pigmentosa 15 [RCV001251617] ChrX:38286412 [GRCh38]
ChrX:38145665 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+355G>T single nucleotide variant Retinal dystrophy [RCV001075181]|Retinitis pigmentosa 15 [RCV001251588] ChrX:38286739 [GRCh38]
ChrX:38145992 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) deletion Retinitis pigmentosa [RCV000787712] ChrX:38269668..38269669 [GRCh38]
ChrX:38128921..38128922 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) deletion Retinitis pigmentosa [RCV000787713] ChrX:38269647..38269648 [GRCh38]
ChrX:38128900..38128901 [GRCh37]
ChrX:Xp11.4
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_000328.3(RPGR):c.155-1G>A single nucleotide variant Cone-rod dystrophy [RCV000787708] ChrX:38322946 [GRCh38]
ChrX:38182199 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp11.4(chrX:38144822-38164037) copy number loss Retinitis pigmentosa 15 [RCV000767798] ChrX:38144822..38164037 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.248-8A>G single nucleotide variant not provided [RCV000980584] ChrX:38321097 [GRCh38]
ChrX:38180350 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1721C>T (p.Thr574Met) single nucleotide variant not provided [RCV000863588] ChrX:38287893 [GRCh38]
ChrX:38147146 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1356G>A (p.Glu452=) single nucleotide variant not provided [RCV000868120] ChrX:38297342 [GRCh38]
ChrX:38156595 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1398G>A (p.Met466Ile) single nucleotide variant Primary ciliary dyskinesia [RCV000797596] ChrX:38297300 [GRCh38]
ChrX:38156553 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1573-3C>G single nucleotide variant Retinitis pigmentosa [RCV000787709] ChrX:38288044 [GRCh38]
ChrX:38147297 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+505A>T single nucleotide variant Retinitis pigmentosa [RCV001199538]|not provided [RCV000999393] ChrX:38286589 [GRCh38]
ChrX:38145842 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1909C>G (p.His637Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000802013] ChrX:38276769 [GRCh38]
ChrX:38136022 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.2(RPGR):c.*644del deletion Retinitis pigmentosa [RCV000787716] ChrX:38268982 [GRCh38]
ChrX:38128235 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1624G>A (p.Asp542Asn) single nucleotide variant Primary ciliary dyskinesia [RCV000819928]|not provided [RCV000999395] ChrX:38287990 [GRCh38]
ChrX:38147243 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.492G>T (p.Trp164Cys) single nucleotide variant Retinitis pigmentosa [RCV000787884] ChrX:38317443 [GRCh38]
ChrX:38176696 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1179T>G (p.Tyr393Ter) single nucleotide variant Retinitis pigmentosa [RCV000787705] ChrX:38299022 [GRCh38]
ChrX:38158275 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1236_1239del (p.Glu414fs) deletion Retinitis pigmentosa [RCV000787707] ChrX:38298962..38298965 [GRCh38]
ChrX:38158215..38158218 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) deletion Retinitis pigmentosa [RCV000787711] ChrX:38269814..38269817 [GRCh38]
ChrX:38129067..38129070 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+567AG[2] microsatellite not provided [RCV001091402] ChrX:38286522..38286523 [GRCh38]
ChrX:38145775..38145776 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+153dup duplication Retinitis pigmentosa [RCV001199760]|not provided [RCV001091408] ChrX:38286939..38286940 [GRCh38]
ChrX:38146192..38146193 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+133_1905+151del deletion Retinitis pigmentosa [RCV001199759]|not provided [RCV000999394] ChrX:38286943..38286961 [GRCh38]
ChrX:38146196..38146214 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1905+618dup duplication Retinitis pigmentosa [RCV001199542]|not provided [RCV001091401] ChrX:38286471..38286472 [GRCh38]
ChrX:38145724..38145725 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1172_1905+1175del deletion Retinitis pigmentosa [RCV001199552]|not provided [RCV001090909] ChrX:38285919..38285922 [GRCh38]
ChrX:38145172..38145175 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+612A>G single nucleotide variant not provided [RCV000860797] ChrX:38286482 [GRCh38]
ChrX:38145735 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.28+1G>C single nucleotide variant Retinitis pigmentosa [RCV000787715] ChrX:38327339 [GRCh38]
ChrX:38186592 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter) single nucleotide variant Retinal dystrophy [RCV001075872]|Retinitis pigmentosa [RCV000787706] ChrX:38298967 [GRCh38]
ChrX:38158220 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1176G>C (p.Pro392=) single nucleotide variant Primary ciliary dyskinesia [RCV000861769] ChrX:38299025 [GRCh38]
ChrX:38158278 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.1905+643G>T single nucleotide variant not provided [RCV001091399] ChrX:38286451 [GRCh38]
ChrX:38145704 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+262del deletion not provided [RCV001091405] ChrX:38286832 [GRCh38]
ChrX:38146085 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+58dup duplication Retinitis pigmentosa [RCV001199812]|not provided [RCV001091409] ChrX:38287032..38287033 [GRCh38]
ChrX:38146285..38146286 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1176_1905+1177del deletion not provided [RCV000999392] ChrX:38285917..38285918 [GRCh38]
ChrX:38145170..38145171 [GRCh37]
ChrX:Xp11.4
pathogenic|likely 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_000328.3(RPGR):c.1905+872_1905+873del microsatellite not provided [RCV001009102] ChrX:38286221..38286222 [GRCh38]
ChrX:38145474..38145475 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+919del deletion Retinitis pigmentosa 15 [RCV001004995] ChrX:38286175 [GRCh38]
ChrX:38145428 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+435_1905+436del microsatellite Retinitis pigmentosa 15 [RCV001196775] ChrX:38286658..38286659 [GRCh38]
ChrX:38145911..38145912 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.219del (p.Ala74fs) deletion not provided [RCV001008120] ChrX:38322881 [GRCh38]
ChrX:38182134 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.457G>A (p.Ala153Thr) single nucleotide variant Retinitis pigmentosa 15 [RCV001197969] ChrX:38318841 [GRCh38]
ChrX:38178094 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.470-73_619+1581del deletion Retinitis pigmentosa 15 [RCV001200050] ChrX:38315735..38317538 [GRCh38]
ChrX:38174988..38176791 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.602A>T (p.His201Leu) single nucleotide variant Retinitis pigmentosa [RCV001199762] ChrX:38317333 [GRCh38]
ChrX:38176586 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 copy number gain not provided [RCV000845673] ChrX:38056276..40565244 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000328.3(RPGR):c.183dup (p.Asn62Ter) duplication Primary ciliary dyskinesia [RCV001241427] ChrX:38322916..38322917 [GRCh38]
ChrX:38182169..38182170 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1754-15_1754-5del deletion Retinitis pigmentosa [RCV001199764] ChrX:38287250..38287260 [GRCh38]
ChrX:38146503..38146513 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000328.3(RPGR):c.1905+940del deletion Retinitis pigmentosa 15 [RCV001251529]|not provided [RCV001090912] ChrX:38286154 [GRCh38]
ChrX:38145407 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.389T>C (p.Phe130Ser) single nucleotide variant Retinitis pigmentosa [RCV001199761] ChrX:38318909 [GRCh38]
ChrX:38178162 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1246-2A>C single nucleotide variant not provided [RCV001092670] ChrX:38297454 [GRCh38]
ChrX:38156707 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+178G>T single nucleotide variant Retinitis pigmentosa [RCV001199533]|not provided [RCV001091407] ChrX:38286916 [GRCh38]
ChrX:38146169 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+717_1905+1151del deletion Retinitis pigmentosa [RCV001199545] ChrX:38285943..38286377 [GRCh38]
ChrX:38145196..38145630 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+556G>T single nucleotide variant Retinitis pigmentosa [RCV001199541] ChrX:38286538 [GRCh38]
ChrX:38145791 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+218A>G single nucleotide variant Retinitis pigmentosa [RCV001199534] ChrX:38286876 [GRCh38]
ChrX:38146129 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1098T>C (p.Ala366=) single nucleotide variant not provided [RCV000864394] ChrX:38299103 [GRCh38]
ChrX:38158356 [GRCh37]
ChrX:Xp11.4
benign
NM_000328.3(RPGR):c.154+1G>A single nucleotide variant Retinitis pigmentosa [RCV001199766] ChrX:38323398 [GRCh38]
ChrX:38182651 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.746C>T (p.Ala249Val) single nucleotide variant Primary ciliary dyskinesia [RCV001036209] ChrX:38310647 [GRCh38]
ChrX:38169900 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1371G>C (p.Glu457Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001245288] ChrX:38297327 [GRCh38]
ChrX:38156580 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1331A>G (p.Asn444Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001240379] ChrX:38297367 [GRCh38]
ChrX:38156620 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+1144G>T single nucleotide variant Retinitis pigmentosa [RCV001199551]|not provided [RCV001090910] ChrX:38285950 [GRCh38]
ChrX:38145203 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.2301G>A (p.Glu767=) single nucleotide variant Primary ciliary dyskinesia [RCV000889873] ChrX:38269773 [GRCh38]
ChrX:38129026 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.1905+1380G>A single nucleotide variant not provided [RCV000999391] ChrX:38285714 [GRCh38]
ChrX:38144967 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000328.3(RPGR):c.706del (p.Gln236fs) deletion not provided [RCV001009263] ChrX:38310687 [GRCh38]
ChrX:38169940 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+165del deletion not provided [RCV001008882] ChrX:38286929 [GRCh38]
ChrX:38146182 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.442G>A (p.Gly148Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001070967] ChrX:38318856 [GRCh38]
ChrX:38178109 [GRCh37]
ChrX:Xp11.4
likely pathogenic
Single allele deletion Retinitis pigmentosa 15 [RCV001251576] ChrX:35820200..38547007 [GRCh37]
ChrX:Xp21.1-11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000328.3(RPGR):c.1905+723_1905+724del deletion not provided [RCV001091397] ChrX:38286370..38286371 [GRCh38]
ChrX:38145623..38145624 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1059_1905+1060del deletion Retinitis pigmentosa 15 [RCV001251539]|Retinitis pigmentosa [RCV001003191] ChrX:38286034..38286035 [GRCh38]
ChrX:38145287..38145288 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1334C>G (p.Ser445Ter) single nucleotide variant Retinitis pigmentosa [RCV001003200] ChrX:38297364 [GRCh38]
ChrX:38156617 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.897dup (p.Ile300fs) duplication Retinitis pigmentosa [RCV001003202] ChrX:38304671..38304672 [GRCh38]
ChrX:38163924..38163925 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.935-1G>T single nucleotide variant Retinitis pigmentosa [RCV001199765]|not provided [RCV001092671] ChrX:38301372 [GRCh38]
ChrX:38160625 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.883C>T (p.Gln295Ter) single nucleotide variant Retinitis pigmentosa 6 [RCV001171309] ChrX:38304686 [GRCh38]
ChrX:38163939 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.935-2A>G single nucleotide variant not provided [RCV001092672] ChrX:38301373 [GRCh38]
ChrX:38160626 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.619+8A>G single nucleotide variant not provided [RCV001092673] ChrX:38317308 [GRCh38]
ChrX:38176561 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1870_1871GA[1] (p.Glu624fs) microsatellite Retinitis pigmentosa 15 [RCV001251558]|not provided [RCV001092668] ChrX:38287126..38287127 [GRCh38]
ChrX:38146379..38146380 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+867_1905+868dup duplication Retinitis pigmentosa [RCV001003194] ChrX:38286225..38286226 [GRCh38]
ChrX:38145478..38145479 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.82G>A (p.Gly28Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001049763] ChrX:38323471 [GRCh38]
ChrX:38182724 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_38269606)_(38269852_?)dup duplication Primary ciliary dyskinesia [RCV001033309] ChrX:38128859..38129105 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_37780009)_(38421102_?)del deletion Chronic granulomatous disease, X-linked [RCV001033901] ChrX:37639262..38280355 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.11:g.(?_38269606)_(38310793_?)dup duplication Primary ciliary dyskinesia [RCV001031878] ChrX:38128859..38170046 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1309C>T (p.Leu437Phe) single nucleotide variant Primary ciliary dyskinesia [RCV001217153] ChrX:38297389 [GRCh38]
ChrX:38156642 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+643del deletion Retinal dystrophy [RCV001073490]|Retinitis pigmentosa 15 [RCV001251615] ChrX:38286451 [GRCh38]
ChrX:38145704 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.193G>C (p.Gly65Arg) single nucleotide variant Retinal dystrophy [RCV001073523] ChrX:38322907 [GRCh38]
ChrX:38182160 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+344_1905+348del microsatellite Retinal dystrophy [RCV001073550]|Retinitis pigmentosa 15 [RCV001251584] ChrX:38286746..38286750 [GRCh38]
ChrX:38145999..38146003 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+962del deletion Retinal dystrophy [RCV001073679]|Retinitis pigmentosa 15 [RCV001251531] ChrX:38286132 [GRCh38]
ChrX:38145385 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+201G>A single nucleotide variant Retinal dystrophy [RCV001073828]|Retinitis pigmentosa 15 [RCV001251565] ChrX:38286893 [GRCh38]
ChrX:38146146 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+993_1905+994del deletion Retinal dystrophy [RCV001074106]|Retinitis pigmentosa 15 [RCV001251533] ChrX:38286100..38286101 [GRCh38]
ChrX:38145353..38145354 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.2206A>G (p.Thr736Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001041811] ChrX:38273421 [GRCh38]
ChrX:38132674 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+830del deletion Retinitis pigmentosa [RCV001199547] ChrX:38286264 [GRCh38]
ChrX:38145517 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1345C>T (p.Arg449Ter) single nucleotide variant Retinal dystrophy [RCV001074651] ChrX:38297353 [GRCh38]
ChrX:38156606 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.679C>T (p.Gln227Ter) single nucleotide variant Retinal dystrophy [RCV001074818] ChrX:38310714 [GRCh38]
ChrX:38169967 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+391_1905+394del microsatellite Retinal dystrophy [RCV001074822]|Retinitis pigmentosa 15 [RCV001251591] ChrX:38286700..38286703 [GRCh38]
ChrX:38145953..38145956 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.327dup (p.Ala110fs) duplication Retinal dystrophy [RCV001074905] ChrX:38318970..38318971 [GRCh38]
ChrX:38178223..38178224 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.827T>G (p.Leu276Arg) single nucleotide variant Retinal dystrophy [RCV001074950] ChrX:38304742 [GRCh38]
ChrX:38163995 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+1285G>T single nucleotide variant Retinal dystrophy [RCV001074981] ChrX:38285809 [GRCh38]
ChrX:38145062 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1685_1686del (p.His562fs) deletion Retinal dystrophy [RCV001075042] ChrX:38287928..38287929 [GRCh38]
ChrX:38147181..38147182 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+574G>T single nucleotide variant Retinal dystrophy [RCV001075387]|Retinitis pigmentosa 15 [RCV001251606] ChrX:38286520 [GRCh38]
ChrX:38145773 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1491del (p.Asp498fs) deletion Retinal dystrophy [RCV001075491] ChrX:38291408 [GRCh38]
ChrX:38150661 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+621_1905+622del deletion Retinal dystrophy [RCV001075689]|Retinitis pigmentosa 15 [RCV001251613] ChrX:38286472..38286473 [GRCh38]
ChrX:38145725..38145726 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.128dup (p.Asp44fs) duplication Retinal dystrophy [RCV001075696] ChrX:38323424..38323425 [GRCh38]
ChrX:38182677..38182678 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+987_1905+988del deletion Retinal dystrophy [RCV001075699]|Retinitis pigmentosa 15 [RCV001251532] ChrX:38286106..38286107 [GRCh38]
ChrX:38145359..38145360 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+498_1905+501del deletion Retinal dystrophy [RCV001075707]|Retinitis pigmentosa 15 [RCV001251598]|not provided [RCV001091404] ChrX:38286593..38286596 [GRCh38]
ChrX:38145846..38145849 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+416_1905+443del deletion Retinitis pigmentosa [RCV001199536] ChrX:38286651..38286678 [GRCh38]
ChrX:38145904..38145931 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+666_1905+667del deletion not provided [RCV001091398] ChrX:38286427..38286428 [GRCh38]
ChrX:38145680..38145681 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+238_1905+239del microsatellite Retinitis pigmentosa [RCV001199535]|not provided [RCV001091406] ChrX:38286855..38286856 [GRCh38]
ChrX:38146108..38146109 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1217dup (p.Ser407fs) duplication Retinitis pigmentosa [RCV001199758]|not provided [RCV001008566] ChrX:38298983..38298984 [GRCh38]
ChrX:38158236..38158237 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+892del deletion Retinitis pigmentosa [RCV001003192] ChrX:38286202 [GRCh38]
ChrX:38145455 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+367G>T single nucleotide variant Retinitis pigmentosa [RCV001003196] ChrX:38286727 [GRCh38]
ChrX:38145980 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+268C>T single nucleotide variant Retinitis pigmentosa [RCV001003198] ChrX:38286826 [GRCh38]
ChrX:38146079 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1237_1238AG[3] (p.Arg415fs) microsatellite Retinal dystrophy [RCV001073760]|Retinitis pigmentosa [RCV001003201] ChrX:38298957..38298958 [GRCh38]
ChrX:38158210..38158211 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1286C>T (p.Pro429Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001040330] ChrX:38297412 [GRCh38]
ChrX:38156665 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+943G>T single nucleotide variant not provided [RCV001007992] ChrX:38286151 [GRCh38]
ChrX:38145404 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1552T>A single nucleotide variant Retinitis pigmentosa 15 [RCV001199003] ChrX:38285542 [GRCh38]
ChrX:38144795 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_000328.3(RPGR):c.1905+1270del deletion Retinitis pigmentosa [RCV001199553] ChrX:38285824 [GRCh38]
ChrX:38145077 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.919del (p.Thr307fs) deletion Retinitis pigmentosa 15 [RCV001027710] ChrX:38304650 [GRCh38]
ChrX:38163903 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.907G>T (p.Gly303Ter) single nucleotide variant Retinitis pigmentosa [RCV001199763] ChrX:38304662 [GRCh38]
ChrX:38163915 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+507_1905+508del microsatellite Retinal dystrophy [RCV001073277]|Retinitis pigmentosa 15 [RCV001251600] ChrX:38286586..38286587 [GRCh38]
ChrX:38145839..38145840 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.934+1G>T single nucleotide variant Retinal dystrophy [RCV001073336] ChrX:38304634 [GRCh38]
ChrX:38163887 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+220G>T single nucleotide variant Retinal dystrophy [RCV001073337]|Retinitis pigmentosa 15 [RCV001251578] ChrX:38286874 [GRCh38]
ChrX:38146127 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+504del deletion Retinal dystrophy [RCV001073407]|Retinitis pigmentosa 15 [RCV001251599] ChrX:38286590 [GRCh38]
ChrX:38145843 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+858GGA[2] microsatellite not provided [RCV001091396] ChrX:38286228..38286230 [GRCh38]
ChrX:38145481..38145483 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+1032_1905+1048del deletion Retinal dystrophy [RCV001073607]|Retinitis pigmentosa 15 [RCV001251536] ChrX:38286046..38286062 [GRCh38]
ChrX:38145299..38145315 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.362T>G (p.Leu121Arg) single nucleotide variant Retinal dystrophy [RCV001073615] ChrX:38318936 [GRCh38]
ChrX:38178189 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+378_1905+379del deletion Retinitis pigmentosa 15 [RCV001251589] ChrX:38286715..38286716 [GRCh38]
ChrX:38145968..38145969 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+435del deletion Retinal dystrophy [RCV001073656]|Retinitis pigmentosa 15 [RCV001251594] ChrX:38286659 [GRCh38]
ChrX:38145912 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+263_1905+266del microsatellite Retinal dystrophy [RCV001073773]|Retinitis pigmentosa 15 [RCV001251582] ChrX:38286828..38286831 [GRCh38]
ChrX:38146081..38146084 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+858_1905+859del deletion Retinal dystrophy [RCV001073877]|Retinitis pigmentosa 15 [RCV001251524]|not provided [RCV001291590] ChrX:38286235..38286236 [GRCh38]
ChrX:38145488..38145489 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1691dup (p.Gln565fs) duplication Retinal dystrophy [RCV001073954] ChrX:38287922..38287923 [GRCh38]
ChrX:38147175..38147176 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+760G>T single nucleotide variant Retinal dystrophy [RCV001073958]|Retinitis pigmentosa 15 [RCV001251620] ChrX:38286334 [GRCh38]
ChrX:38145587 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+388_1905+392del deletion Retinal dystrophy [RCV001073999]|Retinitis pigmentosa 15 [RCV001251590] ChrX:38286702..38286706 [GRCh38]
ChrX:38145955..38145959 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.200_205TAGGAT[1] (p.67_68LG[1]) microsatellite Retinal dystrophy [RCV001074069]|Retinitis pigmentosa 15 [RCV001251546] ChrX:38322889..38322894 [GRCh38]
ChrX:38182142..38182147 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1572+1G>A single nucleotide variant Retinitis pigmentosa [RCV001003199] ChrX:38290958 [GRCh38]
ChrX:38150211 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1011_1905+1012del deletion not provided [RCV001090911] ChrX:38286082..38286083 [GRCh38]
ChrX:38145335..38145336 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_000328.3(RPGR):c.1905+472C>T single nucleotide variant Retinal dystrophy [RCV001074219]|Retinitis pigmentosa 15 [RCV001251596] ChrX:38286622 [GRCh38]
ChrX:38145875 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.29-1G>T single nucleotide variant Retinal dystrophy [RCV001074324]|Retinitis pigmentosa [RCV001199767]|not provided [RCV001092674] ChrX:38323525 [GRCh38]
ChrX:38182778 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000328.3(RPGR):c.1905+1025G>T single nucleotide variant Retinal dystrophy [RCV001074331]|Retinitis pigmentosa 15 [RCV001251535] ChrX:38286069 [GRCh38]
ChrX:38145322 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1905+542del deletion Retinal dystrophy [RCV001074396]|Retinitis pigmentosa 15 [RCV001251605]|Retinitis pigmentosa [RCV001199540] ChrX:38286552 [GRCh38]
ChrX:38145805 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.823G>C (p.Gly275Arg) single nucleotide variant Retinal dystrophy [RCV001074807] ChrX:38304746 [GRCh38]
ChrX:38163999 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+1204G>T single nucleotide variant Retinal dystrophy [RCV001074990]|Retinitis pigmentosa 15 [RCV001251570] ChrX:38285890 [GRCh38]
ChrX:38145143 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000328.3(RPGR):c.1905+253C>T single nucleotide variant Retinal dystrophy [RCV001075090]|Retinitis pigmentosa 15 [RCV001251581] ChrX:38286841 [GRCh38]
ChrX:38146094 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1754-2dup duplication Retinal dystrophy [RCV001075189] ChrX:38287246..38287247 [GRCh38]
ChrX:38146499..38146500 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000328.3(RPGR):c.1170del (p.Leu391fs) deletion Retinal dystrophy [RCV001075197] ChrX:38299031 [GRCh38]
ChrX:38158284 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000328.3(RPGR):c.1905+916G>T single nucleotide variant