RP2 (RP2 activator of ARL3 GTPase) - Rat Genome Database

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Gene: RP2 (RP2 activator of ARL3 GTPase) Homo sapiens
Analyze
Symbol: RP2
Name: RP2 activator of ARL3 GTPase
RGD ID: 1345059
HGNC Page HGNC
Description: Exhibits GTPase activator activity and magnesium ion binding activity. Involved in post-Golgi vesicle-mediated transport. Localizes to several cellular components, including ciliary basal body; cytoplasmic vesicle; and nuclear body. Implicated in retinitis pigmentosa and retinitis pigmentosa 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DELXp11.3; KIAA0215; NM23-H10; NME10; retinitis pigmentosa 2 (X-linked recessive); TBCCD2; XRP2
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 EnsemblX46,837,043 - 46,882,358 (+)EnsemblGRCh38hg38GRCh38
GRCh38X46,837,043 - 46,882,358 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,696,478 - 46,741,793 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,581,320 - 46,626,737 (+)NCBINCBI36hg18NCBI36
Build 34X46,452,628 - 46,498,043NCBI
CeleraX50,888,193 - 50,933,646 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,407,914 - 44,453,137 (+)NCBIHuRef
CHM1_1X46,728,434 - 46,773,905 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2876947   PMID:6325945   PMID:8938433   PMID:9697692   PMID:10053026   PMID:10090907   PMID:10520237   PMID:10634633   PMID:10862093   PMID:10942419   PMID:11462235   PMID:11798852  
PMID:11847227   PMID:11992260   PMID:12417528   PMID:12477932   PMID:12657579   PMID:14564670   PMID:14566651   PMID:15489334   PMID:15772651   PMID:16344560   PMID:16457815   PMID:16472755  
PMID:16936086   PMID:16969763   PMID:17081983   PMID:17093403   PMID:17207965   PMID:17724181   PMID:18376416   PMID:19056867   PMID:19516003   PMID:19852809   PMID:20021257   PMID:20106869  
PMID:20301590   PMID:20458337   PMID:20625056   PMID:20801516   PMID:21285245   PMID:21873635   PMID:22072390   PMID:22183373   PMID:22810586   PMID:23150612   PMID:23372056   PMID:23376485  
PMID:23533145   PMID:24479636   PMID:24711643   PMID:25078280   PMID:25292197   PMID:25659154   PMID:25844643   PMID:26186194   PMID:26455799   PMID:26806561   PMID:26885761   PMID:26936825  
PMID:27173435   PMID:27323122   PMID:27768226   PMID:27769321   PMID:27911705   PMID:28209709   PMID:28294154   PMID:28514442   PMID:29361551   PMID:30194290   PMID:30639242   PMID:31071385  
PMID:31501420   PMID:31536960   PMID:31796584   PMID:32244552   PMID:32296183   PMID:32780723  


Genomics

Comparative Map Data
RP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX46,837,043 - 46,882,358 (+)EnsemblGRCh38hg38GRCh38
GRCh38X46,837,043 - 46,882,358 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,696,478 - 46,741,793 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,581,320 - 46,626,737 (+)NCBINCBI36hg18NCBI36
Build 34X46,452,628 - 46,498,043NCBI
CeleraX50,888,193 - 50,933,646 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,407,914 - 44,453,137 (+)NCBIHuRef
CHM1_1X46,728,434 - 46,773,905 (+)NCBICHM1_1
Rp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,230,720 - 20,271,892 (+)NCBIGRCm39mm39
GRCm39 EnsemblX20,230,720 - 20,271,892 (+)Ensembl
GRCm38X20,364,481 - 20,405,653 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,364,481 - 20,405,653 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X19,941,734 - 19,977,475 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X19,521,567 - 19,557,308 (+)NCBImm8
CeleraX18,496,211 - 18,531,382 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
Rp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,872,581 - 1,916,704 (-)NCBI
Rnor_6.0 EnsemblX2,064,486 - 2,116,656 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X2,066,298 - 2,116,661 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,863,068 - 2,908,525 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX2,417,995 - 2,461,610 (-)NCBICelera
Cytogenetic MapXq11NCBI
Rp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555161,160,148 - 1,193,540 (-)NCBIChiLan1.0ChiLan1.0
RP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,133,639 - 47,178,608 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,133,639 - 47,178,608 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X39,274,103 - 39,319,832 (+)NCBIMhudiblu_PPA_v0panPan3
RP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,472,525 - 40,525,726 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,472,596 - 40,524,883 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX14,848,062 - 14,901,255 (+)NCBI
ROS_Cfam_1.0X40,606,739 - 40,660,116 (+)NCBI
UMICH_Zoey_3.1X40,595,080 - 40,648,018 (+)NCBI
UNSW_CanFamBas_1.0X40,582,438 - 40,635,612 (+)NCBI
UU_Cfam_GSD_1.0X40,675,509 - 40,728,699 (+)NCBI
Rp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X32,815,435 - 32,860,926 (+)NCBI
SpeTri2.0NW_00493650212,656,187 - 12,701,689 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,488,003 - 41,534,805 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,488,866 - 41,534,810 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,325,740 - 46,368,976 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,048,319 - 44,090,011 (+)NCBI
ChlSab1.1 EnsemblX44,048,317 - 44,089,988 (+)Ensembl
Rp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248873,647,607 - 3,684,383 (+)NCBI

Position Markers
DXS7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,451,302 - 43,451,467UniSTSGRCh37
Build 36X43,336,246 - 43,336,411RGDNCBI36
CeleraX47,594,652 - 47,594,816RGD
Cytogenetic MapXp11.22-qterUniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX41,181,798 - 41,181,955UniSTS
D10S16   No map positions available.
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:862
Count of miRNA genes:545
Interacting mature miRNAs:597
Transcripts:ENST00000218340
Prediction methods:Miranda
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 268 776 222 107 1171 90 774 74 233 202 332 777 30 425 250 5
Low 2171 2184 1503 517 779 375 3559 2071 3492 216 1127 835 145 1 779 2515 1 2
Below cutoff 31 1 1 23 52 9 1 1 1 23

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000218340   ⟹   ENSP00000218340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,837,043 - 46,882,358 (+)Ensembl
RefSeq Acc Id: NM_006915   ⟹   NP_008846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,837,043 - 46,882,358 (+)NCBI
GRCh37X46,696,347 - 46,741,793 (+)ENTREZGENE
Build 36X46,581,320 - 46,626,737 (+)NCBI Archive
HuRefX44,407,914 - 44,453,137 (+)ENTREZGENE
CHM1_1X46,728,434 - 46,773,905 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008846   ⟸   NM_006915
- UniProtKB: O75695 (UniProtKB/Swiss-Prot),   A0A1B2JLU2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000218340   ⟸   ENST00000218340
Protein Domains
C-CAP/cofactor C-like

Promoters
RGD ID:6809209
Promoter ID:HG_KWN:66571
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000218340
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,581,269 - 46,581,769 (+)MPROMDB
RGD ID:13605128
Promoter ID:EPDNEW_H28748
Type:initiation region
Name:RP2_1
Description:RP2, ARL3 GTPase activating protein
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
GRCh38X46,837,043 - 46,837,103EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
RP2, 1-BP DEL deletion Retinitis pigmentosa 2 [RCV000011294] ChrX:Xp11.23 pathogenic
RP2, 1-BP INS, 303T insertion Retinitis pigmentosa 2 [RCV000011296] ChrX:Xp11.23 pathogenic
NM_006915.3(RP2):c.16_18del (p.Ser6del) deletion Retinitis pigmentosa 2 [RCV000011290]|Retinitis pigmentosa [RCV000787699] ChrX:46837115..46837117 [GRCh38]
ChrX:46696550..46696552 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.76C>T (p.Gln26Ter) single nucleotide variant Retinitis pigmentosa 2 [RCV000011291]|not provided [RCV000657655] ChrX:46837176 [GRCh38]
ChrX:46696611 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.353G>A (p.Arg118His) single nucleotide variant Retinal dystrophy [RCV001075110]|Retinitis pigmentosa 2 [RCV000011292]|not provided [RCV001215347] ChrX:46853726 [GRCh38]
ChrX:46713161 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) single nucleotide variant Retinitis pigmentosa 2 [RCV000011293] ChrX:46853826 [GRCh38]
ChrX:46713261 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.353G>T (p.Arg118Leu) single nucleotide variant Retinitis pigmentosa 2 [RCV000011295] ChrX:46853726 [GRCh38]
ChrX:46713161 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) single nucleotide variant Retinal dystrophy [RCV000504994]|Retinitis pigmentosa 2 [RCV000011297]|Retinitis pigmentosa [RCV000787701]|not provided [RCV001047806] ChrX:46853731 [GRCh38]
ChrX:46713166 [GRCh37]
ChrX:Xp11.3
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-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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
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 Xp11.3(chrX:46617620-46973582)x3 copy number gain See cases [RCV000054184] ChrX:46617620..46973582 [GRCh38]
ChrX:46477055..46832973 [GRCh37]
ChrX:46361999..46717917 [NCBI36]
ChrX:Xp11.3
uncertain significance
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_006915.3(RP2):c.631del (p.Arg211fs) deletion not provided [RCV000081468] ChrX:46854004 [GRCh38]
ChrX:46713439 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_006915.3(RP2):c.2T>C (p.Met1Thr) single nucleotide variant Retinitis pigmentosa [RCV001003180]|X-linked retinitis pigmentosa [RCV001257801]|not provided [RCV000171435] ChrX:46837102 [GRCh38]
ChrX:46696537 [GRCh37]
ChrX:Xp11.3
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_006915.3(RP2):c.922G>A (p.Val308Ile) single nucleotide variant not provided [RCV001348874] ChrX:46877543 [GRCh38]
ChrX:46736978 [GRCh37]
ChrX:Xp11.3
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
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_006915.3(RP2):c.102G>A (p.Lys34=) single nucleotide variant Leber congenital amaurosis [RCV000515686]|Retinitis pigmentosa 15 [RCV000990803]|not provided [RCV001051097] ChrX:46837202 [GRCh38]
ChrX:46696637 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_43479884)_(46741003_?)del deletion Kabuki syndrome 2 [RCV000172943] ChrX:43479884..46741003 [GRCh37]
ChrX:Xp11.3-11.23
likely 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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
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:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely 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 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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 Xp11.3(chrX:46234280-46867463)x3 copy number gain See cases [RCV000142172] ChrX:46234280..46867463 [GRCh38]
ChrX:46093715..46726898 [GRCh37]
ChrX:45978659..46611842 [NCBI36]
ChrX:Xp11.3
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely 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
NM_006915.3(RP2):c.352del (p.Arg118fs) deletion not provided [RCV000153853] ChrX:46853725 [GRCh38]
ChrX:46713160 [GRCh37]
ChrX:Xp11.3
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_006915.3(RP2):c.260C>T (p.Thr87Ile) single nucleotide variant Retinitis pigmentosa 15 [RCV000404081]|Retinitis pigmentosa [RCV001095347]|not provided [RCV000891263]|not specified [RCV000175832] ChrX:46853633 [GRCh38]
ChrX:46713068 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) single nucleotide variant Retinitis pigmentosa 2 [RCV001000370]|Retinitis pigmentosa [RCV000326876]|not specified [RCV000177264] ChrX:46860063 [GRCh38]
ChrX:46719498 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(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
NM_006915.3(RP2):c.30G>A (p.Lys10=) single nucleotide variant Retinitis pigmentosa [RCV000369714]|not provided [RCV000263023] ChrX:46837130 [GRCh38]
ChrX:46696565 [GRCh37]
ChrX:Xp11.3
likely benign|uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del) deletion Retinal dystrophy [RCV000225538] ChrX:46853632..46853640 [GRCh38]
ChrX:46713067..46713075 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.507del (p.Asn169fs) deletion Retinal dystrophy [RCV000225675] ChrX:46853880 [GRCh38]
ChrX:46713315 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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_006915.3(RP2):c.*904A>G single nucleotide variant Retinitis pigmentosa [RCV000281704] ChrX:46880673 [GRCh38]
ChrX:46740108 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.650A>G (p.Asn217Ser) single nucleotide variant Retinitis pigmentosa 15 [RCV000271838] ChrX:46854023 [GRCh38]
ChrX:46713458 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*1926G>A single nucleotide variant Retinitis pigmentosa [RCV000308887] ChrX:46881695 [GRCh38]
ChrX:46741130 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*2163T>C single nucleotide variant Retinitis pigmentosa [RCV000360451] ChrX:46881932 [GRCh38]
ChrX:46741367 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.*243_*246del deletion Retinitis pigmentosa 15 [RCV000361290] ChrX:46880009..46880012 [GRCh38]
ChrX:46739444..46739447 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.514A>G (p.Ser172Gly) single nucleotide variant Retinitis pigmentosa [RCV000311711] ChrX:46853887 [GRCh38]
ChrX:46713322 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*1947C>G single nucleotide variant Retinitis pigmentosa [RCV000363624] ChrX:46881716 [GRCh38]
ChrX:46741151 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.601A>G (p.Ile201Val) single nucleotide variant Retinitis pigmentosa [RCV000366422]|not provided [RCV000884226] ChrX:46853974 [GRCh38]
ChrX:46713409 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.*1696_*1698ATT[9] microsatellite Retinitis pigmentosa 15 [RCV000348758] ChrX:46881463..46881464 [GRCh38]
ChrX:46740898..46740899 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006915.3(RP2):c.*1098G>A single nucleotide variant Retinitis pigmentosa [RCV000278091] ChrX:46880867 [GRCh38]
ChrX:46740302 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*808del deletion Retinitis pigmentosa 15 [RCV000321767] ChrX:46880576 [GRCh38]
ChrX:46740011 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006915.3(RP2):c.*1081C>T single nucleotide variant Retinitis pigmentosa [RCV000372619] ChrX:46880850 [GRCh38]
ChrX:46740285 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*828G>A single nucleotide variant Retinitis pigmentosa [RCV000376469] ChrX:46880597 [GRCh38]
ChrX:46740032 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.*1908G>A single nucleotide variant Retinitis pigmentosa [RCV000406715] ChrX:46881677 [GRCh38]
ChrX:46741112 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.*1696_*1697insGTATTA insertion Retinitis pigmentosa 15 [RCV000293872] ChrX:46881463..46881464 [GRCh38]
ChrX:46740898..46740899 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006915.2(RP2):c.-70A>G single nucleotide variant Retinitis pigmentosa 15 [RCV000336435] ChrX:46837031 [GRCh38]
ChrX:46696466 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.-26G>T single nucleotide variant Retinitis pigmentosa [RCV000315084] ChrX:46837075 [GRCh38]
ChrX:46696510 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.2(RP2):c.-97C>T single nucleotide variant Retinitis pigmentosa 15 [RCV000300151] ChrX:46837004 [GRCh38]
ChrX:46696439 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*2085T>C single nucleotide variant Retinitis pigmentosa [RCV000402610] ChrX:46881854 [GRCh38]
ChrX:46741289 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.-44G>C single nucleotide variant Retinitis pigmentosa [RCV000403241] ChrX:46837057 [GRCh38]
ChrX:46696492 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006915.3(RP2):c.*958A>C single nucleotide variant Retinitis pigmentosa [RCV000317999] ChrX:46880727 [GRCh38]
ChrX:46740162 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.*435C>T single nucleotide variant Retinitis pigmentosa [RCV000266620] ChrX:46880204 [GRCh38]
ChrX:46739639 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.*1458G>A single nucleotide variant Retinitis pigmentosa [RCV000406717] ChrX:46881227 [GRCh38]
ChrX:46740662 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*2156A>G single nucleotide variant Retinitis pigmentosa [RCV000305758] ChrX:46881925 [GRCh38]
ChrX:46741360 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006915.3(RP2):c.*1447T>C single nucleotide variant Retinitis pigmentosa [RCV000352227] ChrX:46881216 [GRCh38]
ChrX:46740651 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.392del (p.Cys131fs) deletion not provided [RCV000487802] ChrX:46853765 [GRCh38]
ChrX:46713200 [GRCh37]
ChrX:Xp11.3
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_006915.3(RP2):c.593_594del (p.Tyr198fs) deletion not provided [RCV000289367] ChrX:46853965..46853966 [GRCh38]
ChrX:46713400..46713401 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.76_77dup (p.Gln26fs) duplication not provided [RCV000599034] ChrX:46837175..46837176 [GRCh38]
ChrX:46696610..46696611 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.50C>T (p.Pro17Leu) single nucleotide variant not provided [RCV000416240] ChrX:46837150 [GRCh38]
ChrX:46696585 [GRCh37]
ChrX:Xp11.3
uncertain significance
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-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
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-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) single nucleotide variant Retinal dystrophy [RCV000504762]|Retinitis pigmentosa [RCV001003184]|X-linked retinitis pigmentosa [RCV001257800]|not provided [RCV001091011] ChrX:46853725 [GRCh38]
ChrX:46713160 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006915.3(RP2):c.11_13TCT[1] (p.Phe5del) microsatellite Macular dystrophy [RCV000505009]|not provided [RCV001091009] ChrX:46837109..46837111 [GRCh38]
ChrX:46696544..46696546 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) single nucleotide variant Retinitis pigmentosa [RCV000505166] ChrX:46853711 [GRCh38]
ChrX:46713146 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.43del (p.Ser15fs) deletion Abnormality of the eye [RCV000504666] ChrX:46837143 [GRCh38]
ChrX:46696578 [GRCh37]
ChrX:Xp11.3
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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [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
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) single nucleotide variant not provided [RCV000479201] ChrX:46837108 [GRCh38]
ChrX:46696543 [GRCh37]
ChrX:Xp11.3
likely pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 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 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
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_006915.3(RP2):c.102+3A>C single nucleotide variant Leber congenital amaurosis [RCV000515740] ChrX:46837205 [GRCh38]
ChrX:46696640 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.243_246dup (p.Ile83fs) duplication not provided [RCV000524087] ChrX:46853615..46853616 [GRCh38]
ChrX:46713050..46713051 [GRCh37]
ChrX:Xp11.3
pathogenic
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
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_006915.3(RP2):c.365G>A (p.Cys122Tyr) single nucleotide variant Retinitis pigmentosa [RCV001199753]|not provided [RCV000659156] ChrX:46853738 [GRCh38]
ChrX:46713173 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_006915.3(RP2):c.486_490del (p.Gly163fs) deletion Leber congenital amaurosis [RCV000678613] ChrX:46853857..46853861 [GRCh38]
ChrX:46713292..46713296 [GRCh37]
ChrX:Xp11.3
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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp11.23(chrX:46406614-46942050)x3 copy number gain not provided [RCV000684328] ChrX:46406614..46942050 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:46712901-46855806)x3 copy number gain not provided [RCV000845598] ChrX:46712901..46855806 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_006915.3(RP2):c.102+1G>T single nucleotide variant Retinitis pigmentosa [RCV001003182] ChrX:46837203 [GRCh38]
ChrX:46696638 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.364del (p.Cys122fs) deletion Retinitis pigmentosa [RCV001003185] ChrX:46853736 [GRCh38]
ChrX:46713171 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.530_531del (p.Phe177fs) deletion Retinitis pigmentosa [RCV001003186] ChrX:46853902..46853903 [GRCh38]
ChrX:46713337..46713338 [GRCh37]
ChrX:Xp11.3
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
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006915.3(RP2):c.314G>A (p.Cys105Tyr) single nucleotide variant Retinitis pigmentosa 2 [RCV000754595] ChrX:46853687 [GRCh38]
ChrX:46713122 [GRCh37]
ChrX:Xp11.3
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_006915.3(RP2):c.969+4C>G single nucleotide variant not provided [RCV001054501] ChrX:46877594 [GRCh38]
ChrX:46737029 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.758del (p.Leu253fs) deletion Retinitis pigmentosa 2 [RCV000786941] ChrX:46854131 [GRCh38]
ChrX:46713566 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.*741C>T single nucleotide variant Retinitis pigmentosa [RCV001166103] ChrX:46880510 [GRCh38]
ChrX:46739945 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*798T>C single nucleotide variant Retinitis pigmentosa [RCV001166591] ChrX:46880567 [GRCh38]
ChrX:46740002 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.352C>G (p.Arg118Gly) single nucleotide variant Retinitis pigmentosa [RCV000787700] ChrX:46853725 [GRCh38]
ChrX:46713160 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.895G>A (p.Ala299Thr) single nucleotide variant not provided [RCV000904116] ChrX:46877516 [GRCh38]
ChrX:46736951 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.322dup (p.Cys108fs) duplication not provided [RCV001038142] ChrX:46853693..46853694 [GRCh38]
ChrX:46713128..46713129 [GRCh37]
ChrX:Xp11.3
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
NC_000023.10:g.(?_45605561)_(46952346_?)del deletion not provided [RCV001031576] ChrX:45605561..46952346 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_006915.3(RP2):c.415T>C (p.Ser139Pro) single nucleotide variant Retinal dystrophy [RCV001073460] ChrX:46853788 [GRCh38]
ChrX:46713223 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.409_411del (p.Ile137del) deletion Retinal dystrophy [RCV001074380]|Retinitis pigmentosa 2 [RCV001196483]|not provided [RCV001066769] ChrX:46853782..46853784 [GRCh38]
ChrX:46713217..46713219 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) single nucleotide variant Retinal dystrophy [RCV001073965] ChrX:46854141 [GRCh38]
ChrX:46713576 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.884-1G>A single nucleotide variant Retinal dystrophy [RCV001074133] ChrX:46877504 [GRCh38]
ChrX:46736939 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs) indel Retinal dystrophy [RCV001074246] ChrX:46853495..46853501 [GRCh38]
ChrX:46712930..46712936 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.768+1G>C single nucleotide variant Retinal dystrophy [RCV001074537] ChrX:46854142 [GRCh38]
ChrX:46713577 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.37A>T (p.Lys13Ter) single nucleotide variant Retinal dystrophy [RCV001074570] ChrX:46837137 [GRCh38]
ChrX:46696572 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.770_773TGGT[1] (p.Gly259fs) microsatellite Retinal dystrophy [RCV001074663] ChrX:46859989..46859992 [GRCh38]
ChrX:46719424..46719427 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.19A>C (p.Lys7Gln) single nucleotide variant Retinal dystrophy [RCV001074934] ChrX:46837119 [GRCh38]
ChrX:46696554 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.390T>A (p.Cys130Ter) single nucleotide variant Retinitis pigmentosa [RCV000787702] ChrX:46853763 [GRCh38]
ChrX:46713198 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.72A>C (p.Pro24=) single nucleotide variant not provided [RCV000982409] ChrX:46837172 [GRCh38]
ChrX:46696607 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.884-14G>A single nucleotide variant Retinal dystrophy [RCV001074033]|Retinitis pigmentosa 15 [RCV000990805] ChrX:46877491 [GRCh38]
ChrX:46736926 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.826del (p.Asp276fs) deletion Retinitis pigmentosa [RCV000787704] ChrX:46860044 [GRCh38]
ChrX:46719479 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) single nucleotide variant Retinitis pigmentosa [RCV000787703] ChrX:46837149 [GRCh38]
ChrX:46696584 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006915.3(RP2):c.*504T>A single nucleotide variant Retinitis pigmentosa [RCV001166102] ChrX:46880273 [GRCh38]
ChrX:46739708 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.639del (p.Thr214fs) deletion not provided [RCV001060464] ChrX:46854011 [GRCh38]
ChrX:46713446 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.*1176G>A single nucleotide variant Retinitis pigmentosa [RCV001168334] ChrX:46880945 [GRCh38]
ChrX:46740380 [GRCh37]
ChrX:Xp11.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
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_006915.3(RP2):c.959A>G (p.Asn320Ser) single nucleotide variant not provided [RCV000939210] ChrX:46877580 [GRCh38]
ChrX:46737015 [GRCh37]
ChrX:Xp11.3
benign
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
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_006915.3(RP2):c.199_200TG[1] (p.Cys67_Glu68delinsTer) microsatellite Retinitis pigmentosa [RCV001199752] ChrX:46853572..46853573 [GRCh38]
ChrX:46713007..46713008 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.450G>T (p.Trp150Cys) single nucleotide variant not provided [RCV001238968] ChrX:46853823 [GRCh38]
ChrX:46713258 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.122T>C (p.Met41Thr) single nucleotide variant not provided [RCV001237870] ChrX:46853495 [GRCh38]
ChrX:46712930 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.901G>T (p.Glu301Ter) single nucleotide variant not provided [RCV001239428] ChrX:46877522 [GRCh38]
ChrX:46736957 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.118del (p.Tyr40fs) deletion not provided [RCV001221234] ChrX:46853491 [GRCh38]
ChrX:46712926 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.859_860delinsTTC (p.Asp287fs) indel not provided [RCV001246267] ChrX:46860078..46860079 [GRCh38]
ChrX:46719513..46719514 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.40del (p.Glu14fs) deletion Retinitis pigmentosa [RCV001199754] ChrX:46837139 [GRCh38]
ChrX:46696574 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.481G>T (p.Asp161Tyr) single nucleotide variant not provided [RCV001236449] ChrX:46853854 [GRCh38]
ChrX:46713289 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.158del (p.Leu53fs) deletion Retinitis pigmentosa 15 [RCV000990804] ChrX:46853530 [GRCh38]
ChrX:46712965 [GRCh37]
ChrX:Xp11.3
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_006915.3(RP2):c.127A>G (p.Ser43Gly) single nucleotide variant not provided [RCV001201464] ChrX:46853500 [GRCh38]
ChrX:46712935 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*746C>T single nucleotide variant Retinitis pigmentosa [RCV001166590] ChrX:46880515 [GRCh38]
ChrX:46739950 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.438A>G (p.Gly146=) single nucleotide variant not provided [RCV000975416] ChrX:46853811 [GRCh38]
ChrX:46713246 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.606T>C (p.Pro202=) single nucleotide variant Retinitis pigmentosa [RCV001169007]|not provided [RCV000970388] ChrX:46853979 [GRCh38]
ChrX:46713414 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr) single nucleotide variant not provided [RCV000942569] ChrX:46879717 [GRCh38]
ChrX:46739152 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.949G>A (p.Glu317Lys) single nucleotide variant not provided [RCV000896113] ChrX:46877570 [GRCh38]
ChrX:46737005 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.969+1dup duplication Retinitis pigmentosa [RCV001199756] ChrX:46877589..46877590 [GRCh38]
ChrX:46737024..46737025 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.668T>A (p.Ile223Lys) single nucleotide variant not provided [RCV001243570] ChrX:46854041 [GRCh38]
ChrX:46713476 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.845G>A (p.Arg282Gln) single nucleotide variant Retinitis pigmentosa [RCV001166099] ChrX:46860064 [GRCh38]
ChrX:46719499 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.482del (p.Asp161fs) deletion not provided [RCV001225678] ChrX:46853855 [GRCh38]
ChrX:46713290 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.751A>G (p.Arg251Gly) single nucleotide variant not provided [RCV000913104] ChrX:46854124 [GRCh38]
ChrX:46713559 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.196G>A (p.Asp66Asn) single nucleotide variant not provided [RCV000912118] ChrX:46853569 [GRCh38]
ChrX:46713004 [GRCh37]
ChrX:Xp11.3
benign
NM_006915.3(RP2):c.932del (p.Cys311fs) deletion Retinitis pigmentosa 15 [RCV000990806] ChrX:46877553 [GRCh38]
ChrX:46736988 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.299dup (p.Phe101fs) duplication not provided [RCV001091010] ChrX:46853671..46853672 [GRCh38]
ChrX:46713106..46713107 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.529_533del (p.Phe177fs) deletion Retinitis pigmentosa [RCV001199755]|not provided [RCV001091012] ChrX:46853900..46853904 [GRCh38]
ChrX:46713335..46713339 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46331758-46999539)x2 copy number gain not provided [RCV001007299] ChrX:46331758..46999539 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
NM_006915.3(RP2):c.*1743T>C single nucleotide variant Retinitis pigmentosa [RCV001168335] ChrX:46881512 [GRCh38]
ChrX:46740947 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.25_28del (p.Lys10fs) deletion Retinitis pigmentosa [RCV001003181] ChrX:46837123..46837126 [GRCh38]
ChrX:46696558..46696561 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.496A>G (p.Ile166Val) single nucleotide variant Retinitis pigmentosa [RCV001169005] ChrX:46853869 [GRCh38]
ChrX:46713304 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.506A>G (p.Asn169Ser) single nucleotide variant Retinitis pigmentosa [RCV001169006]|not provided [RCV001296663] ChrX:46853879 [GRCh38]
ChrX:46713314 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.328T>C (p.Cys110Arg) single nucleotide variant Retinitis pigmentosa [RCV001003183]|not provided [RCV001315561] ChrX:46853701 [GRCh38]
ChrX:46713136 [GRCh37]
ChrX:Xp11.3
likely pathogenic|uncertain significance
NM_006915.3(RP2):c.347A>G (p.Gln116Arg) single nucleotide variant not provided [RCV001235779] ChrX:46853720 [GRCh38]
ChrX:46713155 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46736940)_(46739204_?)del deletion not provided [RCV001033525] ChrX:46736940..46739204 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006915.3(RP2):c.566T>C (p.Leu189Pro) single nucleotide variant Retinal dystrophy [RCV001073701]|not provided [RCV001306183] ChrX:46853939 [GRCh38]
ChrX:46713374 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.167C>T (p.Thr56Met) single nucleotide variant not provided [RCV001211919] ChrX:46853540 [GRCh38]
ChrX:46712975 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.400C>T (p.Gln134Ter) single nucleotide variant Retinal dystrophy [RCV001074770] ChrX:46853773 [GRCh38]
ChrX:46713208 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.322T>C (p.Cys108Arg) single nucleotide variant not provided [RCV001049012] ChrX:46853695 [GRCh38]
ChrX:46713130 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.168_178del (p.Val57fs) deletion Retinal dystrophy [RCV001075218] ChrX:46853537..46853547 [GRCh38]
ChrX:46712972..46712982 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.412_434del (p.Glu138fs) deletion not provided [RCV001069633] ChrX:46853782..46853804 [GRCh38]
ChrX:46713217..46713239 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.178C>T (p.Gln60Ter) single nucleotide variant Retinal dystrophy [RCV001075521] ChrX:46853551 [GRCh38]
ChrX:46712986 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.-35A>G single nucleotide variant Retinitis pigmentosa [RCV001168265] ChrX:46837066 [GRCh38]
ChrX:46696501 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.11T>G (p.Phe4Cys) single nucleotide variant Retinitis pigmentosa [RCV001168266] ChrX:46837111 [GRCh38]
ChrX:46696546 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.515dup (p.Ser172fs) duplication not provided [RCV001041881] ChrX:46853887..46853888 [GRCh38]
ChrX:46713322..46713323 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006915.3(RP2):c.613G>A (p.Glu205Lys) single nucleotide variant Retinitis pigmentosa 2 [RCV001001731]|not provided [RCV001240537] ChrX:46853986 [GRCh38]
ChrX:46713421 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.420C>T (p.Ser140=) single nucleotide variant Retinitis pigmentosa [RCV001169004] ChrX:46853793 [GRCh38]
ChrX:46713228 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46719423)_(46952346_?)del deletion not provided [RCV001031769] ChrX:46719423..46952346 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006915.3(RP2):c.814A>G (p.Met272Val) single nucleotide variant Retinitis pigmentosa [RCV001166098] ChrX:46860033 [GRCh38]
ChrX:46719468 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006915.3(RP2):c.*33C>G single nucleotide variant Retinitis pigmentosa [RCV001166100] ChrX:46879802 [GRCh38]
ChrX:46739237 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.163G>A (p.Gly55Arg) single nucleotide variant Retinal dystrophy [RCV001073339] ChrX:46853536 [GRCh38]
ChrX:46712971 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.324C>A (p.Cys108Ter) single nucleotide variant Retinal dystrophy [RCV001075545] ChrX:46853697 [GRCh38]
ChrX:46713132 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.38A>T (p.Lys13Met) single nucleotide variant Retinal dystrophy [RCV001075679] ChrX:46837138 [GRCh38]
ChrX:46696573 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.*141T>A single nucleotide variant Retinitis pigmentosa [RCV001166101] ChrX:46879910 [GRCh38]
ChrX:46739345 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.208del (p.Cys70fs) deletion not provided [RCV001211990] ChrX:46853581 [GRCh38]
ChrX:46713016 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006915.3(RP2):c.769-3C>A single nucleotide variant not provided [RCV001268597] ChrX:46859985 [GRCh38]
ChrX:46719420 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.765T>A (p.Asp255Glu) single nucleotide variant not provided [RCV001294676] ChrX:46854138 [GRCh38]
ChrX:46713573 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.1046G>C (p.Gly349Ala) single nucleotide variant not provided [RCV001339052] ChrX:46879762 [GRCh38]
ChrX:46739197 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006915.3(RP2):c.647C>A (p.Ala216Asp) single nucleotide variant not provided [RCV001339897] ChrX:46854020 [GRCh38]
ChrX:46713455 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.593A>G (p.Tyr198Cys) single nucleotide variant not provided [RCV001320508] ChrX:46853966 [GRCh38]
ChrX:46713401 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.44C>T (p.Ser15Leu) single nucleotide variant not provided [RCV001321622] ChrX:46837144 [GRCh38]
ChrX:46696579 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.191T>C (p.Ile64Thr) single nucleotide variant not provided [RCV001340990] ChrX:46853564 [GRCh38]
ChrX:46712999 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.440G>A (p.Cys147Tyr) single nucleotide variant not provided [RCV001337916] ChrX:46853813 [GRCh38]
ChrX:46713248 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.577G>T (p.Ala193Ser) single nucleotide variant not provided [RCV001316159] ChrX:46853950 [GRCh38]
ChrX:46713385 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.884-9T>A single nucleotide variant Retinitis pigmentosa 2 [RCV001353020] ChrX:46877496 [GRCh38]
ChrX:46736931 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006915.3(RP2):c.413A>C (p.Glu138Ala) single nucleotide variant not provided [RCV001325737] ChrX:46853786 [GRCh38]
ChrX:46713221 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.991G>A (p.Glu331Lys) single nucleotide variant not provided [RCV001303825] ChrX:46879707 [GRCh38]
ChrX:46739142 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.286G>A (p.Val96Met) single nucleotide variant not provided [RCV001309777] ChrX:46853659 [GRCh38]
ChrX:46713094 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006915.3(RP2):c.969+2T>C single nucleotide variant not provided [RCV001347060] ChrX:46877592 [GRCh38]
ChrX:46737027 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.1013A>C (p.Asp338Ala) single nucleotide variant not provided [RCV001338917] ChrX:46879729 [GRCh38]
ChrX:46739164 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.318A>C (p.Arg106Ser) single nucleotide variant not provided [RCV001323264] ChrX:46853691 [GRCh38]
ChrX:46713126 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.100A>G (p.Lys34Glu) single nucleotide variant not provided [RCV001347539] ChrX:46837200 [GRCh38]
ChrX:46696635 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.401A>G (p.Gln134Arg) single nucleotide variant not provided [RCV001347868] ChrX:46853774 [GRCh38]
ChrX:46713209 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.57C>G (p.Asn19Lys) single nucleotide variant not provided [RCV001341652] ChrX:46837157 [GRCh38]
ChrX:46696592 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.353G>C (p.Arg118Pro) single nucleotide variant not provided [RCV001351195] ChrX:46853726 [GRCh38]
ChrX:46713161 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.142G>A (p.Glu48Lys) single nucleotide variant not provided [RCV001352468] ChrX:46853515 [GRCh38]
ChrX:46712950 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006915.3(RP2):c.977_982del (p.Val326_Ser327del) deletion not provided [RCV001305208] ChrX:46879691..46879696 [GRCh38]
ChrX:46739126..46739131 [GRCh37]
ChrX:Xp11.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10274 AgrOrtholog
COSMIC RP2 COSMIC
Ensembl Genes ENSG00000102218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000218340 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000218340 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.160.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.141 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102218 GTEx
HGNC ID HGNC:10274 ENTREZGENE
Human Proteome Map RP2 Human Proteome Map
InterPro C-CAP_CF_C-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAP/MinC_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAP_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARP_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NDK-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin-bd_cofactor_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XRP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6102 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6102 ENTREZGENE
OMIM 300578 OMIM
  300757 OMIM
  312600 OMIM
PANTHER PTHR15440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TBCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34641 PharmGKB
PIRSF Protein_XRP2 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
PROSITE C_CAP_COFACTOR_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CARP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54919 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B2JLU2 ENTREZGENE, UniProtKB/TrEMBL
  O75695 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q86XJ7 UniProtKB/Swiss-Prot
  Q9NU67 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 RP2  RP2 activator of ARL3 GTPase    RP2, ARL3 GTPase activating protein  Symbol and/or name change 5135510 APPROVED
2017-02-28 RP2  RP2, ARL3 GTPase activating protein    retinitis pigmentosa 2 (X-linked recessive)  Symbol and/or name change 5135510 APPROVED
2011-08-16 RP2  retinitis pigmentosa 2 (X-linked recessive)  RP2  retinitis pigmentosa 2 (X-linked recessive)  Symbol and/or name change 5135510 APPROVED