PLXNB3 (plexin B3) - Rat Genome Database

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Gene: PLXNB3 (plexin B3) Homo sapiens
Analyze
Symbol: PLXNB3
Name: plexin B3
RGD ID: 1350171
HGNC Page HGNC:9105
Description: Enables cell-cell adhesion mediator activity; protein domain specific binding activity; and semaphorin receptor activity. Involved in several processes, including homophilic cell adhesion via plasma membrane adhesion molecules; negative regulation of GTPase activity; and positive regulation of endothelial cell proliferation. Located in cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ76953; PLEXB3; plexin 6; plexin-B3; PLEXR; PLXN6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,764,249 - 153,779,341 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,764,196 - 153,779,346 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,029,704 - 153,044,796 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,682,905 - 152,697,989 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X152,550,557 - 152,565,642NCBI
CeleraX153,263,333 - 153,278,483 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,686,716 - 141,701,865 (+)NCBIHuRef
CHM1_1X152,904,061 - 152,919,212 (+)NCBICHM1_1
T2T-CHM13v2.0X152,037,914 - 152,053,006 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates. Tamagnone L, etal., Cell 1999 Oct 1;99(1):71-80.
Additional References at PubMed
PMID:8661155   PMID:10574462   PMID:12123608   PMID:12183458   PMID:12421765   PMID:15184888   PMID:15218527   PMID:15790807   PMID:16122393   PMID:17033634   PMID:19329067   PMID:19850054  
PMID:20696765   PMID:21706053   PMID:21873635   PMID:29676528   PMID:34267322   PMID:35914814   PMID:35981243   PMID:36741230   PMID:36857181  


Genomics

Comparative Map Data
PLXNB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,764,249 - 153,779,341 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,764,196 - 153,779,346 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,029,704 - 153,044,796 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,682,905 - 152,697,989 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X152,550,557 - 152,565,642NCBI
CeleraX153,263,333 - 153,278,483 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,686,716 - 141,701,865 (+)NCBIHuRef
CHM1_1X152,904,061 - 152,919,212 (+)NCBICHM1_1
T2T-CHM13v2.0X152,037,914 - 152,053,006 (+)NCBIT2T-CHM13v2.0
Plxnb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,800,564 - 72,816,116 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX72,800,696 - 72,816,120 (+)EnsemblGRCm39 Ensembl
GRCm38X73,756,556 - 73,772,510 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,757,090 - 73,772,514 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,002,442 - 71,017,849 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,009,810 - 70,025,230 (+)NCBIMGSCv36mm8
CeleraX65,009,376 - 65,024,783 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.4NCBI
Plxnb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X156,645,505 - 156,660,011 (+)NCBIGRCr8
mRatBN7.2X151,493,832 - 151,508,688 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX151,494,207 - 151,508,674 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX153,636,711 - 153,649,852 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,199,937 - 157,213,082 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X154,871,765 - 154,884,906 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X157,015,297 - 157,030,147 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX157,015,305 - 157,028,434 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,764,184 - 152,779,039 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,681,646 - 159,694,783 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1136,380,863 - 136,394,000 (-)NCBICelera
Cytogenetic MapXq37NCBI
Plxnb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580484,805 - 495,445 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580482,602 - 495,628 (+)NCBIChiLan1.0ChiLan1.0
PLXNB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X153,804,772 - 153,820,041 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X153,808,363 - 153,823,646 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,314,794 - 143,330,066 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,200,971 - 153,215,909 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,200,971 - 153,215,909 (+)Ensemblpanpan1.1panPan2
PLXNB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,577,564 - 121,593,294 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,580,073 - 121,593,287 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,906,928 - 106,922,587 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X124,719,222 - 124,734,893 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX124,719,296 - 124,734,838 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X120,488,510 - 120,504,170 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,003,521 - 123,019,170 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X122,765,705 - 122,781,365 (+)NCBIUU_Cfam_GSD_1.0
Plxnb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,905,069 - 118,921,958 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936809644,049 - 659,859 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936809645,569 - 659,850 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLXNB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,509,526 - 124,522,767 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,507,953 - 124,522,780 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,072,571 - 142,087,361 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLXNB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,191,297 - 128,207,456 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,191,332 - 128,206,194 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,058,633 - 66,073,613 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plxnb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946450,047 - 460,718 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946447,981 - 460,880 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLXNB3
196 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 copy number loss See cases [RCV000051751] ChrX:153667032..153817949 [GRCh38]
ChrX:152585681..152736598 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 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 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 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 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28		 uncertain significance
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152925866-153032459)x2 copy number gain See cases [RCV000240069] ChrX:152925866..153032459 [GRCh37]
ChrX:Xq28		 uncertain significance
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 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28		 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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152969516-153044721)x3 copy number gain See cases [RCV000447135] ChrX:152969516..153044721 [GRCh37]
ChrX:Xq28		 likely benign
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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28		 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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 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 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_005393.3(PLXNB3):c.1009G>C (p.Gly337Arg) single nucleotide variant not provided [RCV000498811] ChrX:153767836 [GRCh38]
ChrX:153033291 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_005393.3(PLXNB3):c.4196G>A (p.Arg1399Lys) single nucleotide variant not specified [RCV004292219] ChrX:153775265 [GRCh38]
ChrX:153040720 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4100G>A (p.Arg1367His) single nucleotide variant not specified [RCV004297703] ChrX:153775048 [GRCh38]
ChrX:153040503 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4391C>G (p.Ala1464Gly) single nucleotide variant not specified [RCV004288745] ChrX:153775650 [GRCh38]
ChrX:153041105 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1116C>G (p.Asp372Glu) single nucleotide variant not specified [RCV004327248] ChrX:153768278 [GRCh38]
ChrX:153033733 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5707G>A (p.Glu1903Lys) single nucleotide variant not specified [RCV004320280] ChrX:153779016 [GRCh38]
ChrX:153044471 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3124G>A (p.Val1042Met) single nucleotide variant not specified [RCV004289677] ChrX:153773558 [GRCh38]
ChrX:153039013 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_005393.3(PLXNB3):c.3745G>A (p.Ala1249Thr) single nucleotide variant not provided [RCV000512712] ChrX:153774486 [GRCh38]
ChrX:153039941 [GRCh37]
ChrX:Xq28		 uncertain significance
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:153012011-153064295)x1 copy number loss not provided [RCV000684740] ChrX:153012011..153064295 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_005393.3(PLXNB3):c.3005G>A (p.Arg1002His) single nucleotide variant not provided [RCV000709843] ChrX:153773328 [GRCh38]
ChrX:153038783 [GRCh37]
ChrX:Xq28		 not provided
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153020247-153041544)x0 copy number loss not provided [RCV000753925] ChrX:153020247..153041544 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq28(chrX:153032538-153041544)x1 copy number loss not provided [RCV000753926] ChrX:153032538..153041544 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq28(chrX:153032658-153039695)x0 copy number loss not provided [RCV000753927] ChrX:153032658..153039695 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq28(chrX:153032658-153040415)x0 copy number loss not provided [RCV000753928] ChrX:153032658..153040415 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq28(chrX:153035798-153049739)x3 copy number gain not provided [RCV000753929] ChrX:153035798..153049739 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_005393.3(PLXNB3):c.1519G>A (p.Gly507Arg) single nucleotide variant not provided [RCV000964158] ChrX:153769829 [GRCh38]
ChrX:153035284 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.2348-4del deletion not provided [RCV000881607] ChrX:153771480 [GRCh38]
ChrX:153036935 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.83G>A (p.Cys28Tyr) single nucleotide variant not provided [RCV000967615] ChrX:153766910 [GRCh38]
ChrX:153032365 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.480C>T (p.Asp160=) single nucleotide variant not provided [RCV000966122] ChrX:153767307 [GRCh38]
ChrX:153032762 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.417G>A (p.Val139=) single nucleotide variant not provided [RCV000966121] ChrX:153767244 [GRCh38]
ChrX:153032699 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.1618G>A (p.Glu540Lys) single nucleotide variant not provided [RCV000943132] ChrX:153769928 [GRCh38]
ChrX:153035383 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2802T>C (p.Pro934=) single nucleotide variant not provided [RCV000915795] ChrX:153772912 [GRCh38]
ChrX:153038367 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000900405] ChrX:153765536 [GRCh38]
ChrX:153030991 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_005393.3(PLXNB3):c.2378C>T (p.Pro793Leu) single nucleotide variant not provided [RCV000970525] ChrX:153771516 [GRCh38]
ChrX:153036971 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.3819C>A (p.Thr1273=) single nucleotide variant not provided [RCV000895593] ChrX:153774560 [GRCh38]
ChrX:153040015 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2337T>C (p.His779=) single nucleotide variant not provided [RCV000879485] ChrX:153771393 [GRCh38]
ChrX:153036848 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.4184G>A (p.Ser1395Asn) single nucleotide variant not provided [RCV000879486] ChrX:153775253 [GRCh38]
ChrX:153040708 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.2925G>A (p.Pro975=) single nucleotide variant not provided [RCV000920752] ChrX:153773248 [GRCh38]
ChrX:153038703 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.1467G>A (p.Pro489=) single nucleotide variant not provided [RCV000969767] ChrX:153769233 [GRCh38]
ChrX:153034688 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.1599G>A (p.Pro533=) single nucleotide variant not provided [RCV000897876] ChrX:153769909 [GRCh38]
ChrX:153035364 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.1887G>A (p.Ala629=) single nucleotide variant not provided [RCV000961852] ChrX:153770438 [GRCh38]
ChrX:153035893 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.2137-9C>T single nucleotide variant not provided [RCV000918748] ChrX:153770956 [GRCh38]
ChrX:153036411 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.720C>T (p.Asp240=) single nucleotide variant not provided [RCV000895221] ChrX:153767547 [GRCh38]
ChrX:153033002 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.107C>T (p.Pro36Leu) single nucleotide variant not specified [RCV004312964] ChrX:153766934 [GRCh38]
ChrX:153032389 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152980470-153032459) copy number loss Adrenoleukodystrophy [RCV000767810] ChrX:152980470..153032459 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28		 pathogenic
NM_005393.3(PLXNB3):c.5010C>T (p.Ala1670=) single nucleotide variant not provided [RCV000915950] ChrX:153777290 [GRCh38]
ChrX:153042745 [GRCh37]
ChrX:Xq28		 benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_005393.3(PLXNB3):c.2085G>A (p.Val695=) single nucleotide variant not provided [RCV000996044] ChrX:153770832 [GRCh38]
ChrX:153036287 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4817C>T (p.Thr1606Ile) single nucleotide variant not provided [RCV000996045] ChrX:153776443 [GRCh38]
ChrX:153041898 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005393.3(PLXNB3):c.208G>A (p.Ala70Thr) single nucleotide variant not specified [RCV004326508] ChrX:153767035 [GRCh38]
ChrX:153032490 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4401+17C>T single nucleotide variant not provided [RCV001621298] ChrX:153775677 [GRCh38]
ChrX:153041132 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.4911G>A (p.Arg1637=) single nucleotide variant not provided [RCV001641820] ChrX:153776964 [GRCh38]
ChrX:153042419 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.2307G>C (p.Gln769His) single nucleotide variant not provided [RCV001573651] ChrX:153771363 [GRCh38]
ChrX:153036818 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2008G>A (p.Glu670Lys) single nucleotide variant not provided [RCV000885932] ChrX:153770640 [GRCh38]
ChrX:153036095 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4509T>C (p.Asp1503=) single nucleotide variant not provided [RCV000897031] ChrX:153775994 [GRCh38]
ChrX:153041449 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3311G>A (p.Ser1104Asn) single nucleotide variant not provided [RCV000887374] ChrX:153773890 [GRCh38]
ChrX:153039345 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.1991C>T (p.Thr664Ile) single nucleotide variant not provided [RCV000879484] ChrX:153770623 [GRCh38]
ChrX:153036078 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.4113G>A (p.Thr1371=) single nucleotide variant not provided [RCV000910792] ChrX:153775061 [GRCh38]
ChrX:153040516 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.2156A>G (p.His719Arg) single nucleotide variant not provided [RCV000912212] ChrX:153770984 [GRCh38]
ChrX:153036439 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3897C>A (p.Thr1299=) single nucleotide variant not provided [RCV000890609] ChrX:153774772 [GRCh38]
ChrX:153040227 [GRCh37]
ChrX:Xq28		 benign
NM_005393.3(PLXNB3):c.3279+8C>T single nucleotide variant not provided [RCV000955629] ChrX:153773721 [GRCh38]
ChrX:153039176 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NC_000023.10:g.(?_152954010)_(153141311_?)dup duplication Creatine transporter deficiency [RCV001033780] ChrX:152954010..153141311 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-153146794)x2 copy number gain Autism [RCV002284318] ChrX:152228560..153146794 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_005393.3(PLXNB3):c.4274C>A (p.Thr1425Asn) single nucleotide variant Neurodevelopmental disorder [RCV001262161] ChrX:153775343 [GRCh38]
ChrX:153040798 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153055639)x3 copy number gain not provided [RCV001260060] ChrX:152941302..153055639 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152815772-153624215) copy number gain Global developmental delay [RCV002280663] ChrX:152815772..153624215 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
Single allele deletion SSR4-congenital disorder of glycosylation [RCV001268961] ChrX:153011909..153063825 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152014869)_(153363122_?)dup duplication Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] ChrX:152014869..153363122 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
NM_005393.3(PLXNB3):c.672G>A (p.Val224=) single nucleotide variant not specified [RCV004327040] ChrX:153767499 [GRCh38]
ChrX:153032954 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 copy number gain not provided [RCV001829153] ChrX:152740984..153431748 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152986307)_(153593345_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV001967054] ChrX:152986307..153593345 [GRCh37]
ChrX:Xq28		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157) copy number gain not specified [RCV002053204] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_152482081)_(153416424_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV004581782] ChrX:152482081..153416424 [GRCh37]
ChrX:Xq28		 pathogenic
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152954030)_(153283591_?)dup duplication Spastic paraplegia [RCV003111187]|not provided [RCV003111188] ChrX:152954030..153283591 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
NM_005393.3(PLXNB3):c.2507G>A (p.Ser836Asn) single nucleotide variant not provided [RCV003120140] ChrX:153771645 [GRCh38]
ChrX:153037100 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_005393.3(PLXNB3):c.220C>T (p.Leu74Phe) single nucleotide variant PLXNB3-related Intellectual disability [RCV002266657] ChrX:153767047 [GRCh38]
ChrX:153032502 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152805142-153200052)x2 copy number gain not provided [RCV002474953] ChrX:152805142..153200052 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_005393.3(PLXNB3):c.5297A>G (p.Asn1766Ser) single nucleotide variant not specified [RCV004210607] ChrX:153777983 [GRCh38]
ChrX:153043438 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5641G>A (p.Glu1881Lys) single nucleotide variant not specified [RCV004134974] ChrX:153778950 [GRCh38]
ChrX:153044405 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1957G>A (p.Val653Met) single nucleotide variant not specified [RCV004214973] ChrX:153770589 [GRCh38]
ChrX:153036044 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1756G>C (p.Asp586His) single nucleotide variant not specified [RCV004159089] ChrX:153770218 [GRCh38]
ChrX:153035673 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.91C>A (p.Leu31Met) single nucleotide variant not specified [RCV004224897] ChrX:153766918 [GRCh38]
ChrX:153032373 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4627C>T (p.Leu1543Phe) single nucleotide variant not specified [RCV004133288] ChrX:153776112 [GRCh38]
ChrX:153041567 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.374G>A (p.Arg125His) single nucleotide variant not provided [RCV003434663]|not specified [RCV004207681] ChrX:153767201 [GRCh38]
ChrX:153032656 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_005393.3(PLXNB3):c.3479G>A (p.Arg1160His) single nucleotide variant not provided [RCV003434647]|not specified [RCV004192817] ChrX:153774058 [GRCh38]
ChrX:153039513 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_005393.3(PLXNB3):c.91C>G (p.Leu31Val) single nucleotide variant not specified [RCV004121448] ChrX:153766918 [GRCh38]
ChrX:153032373 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.263T>G (p.Val88Gly) single nucleotide variant not specified [RCV004100144] ChrX:153767090 [GRCh38]
ChrX:153032545 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2927A>C (p.Glu976Ala) single nucleotide variant not specified [RCV004177609] ChrX:153773250 [GRCh38]
ChrX:153038705 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.62G>A (p.Arg21His) single nucleotide variant not specified [RCV004095329] ChrX:153766889 [GRCh38]
ChrX:153032344 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1684T>G (p.Cys562Gly) single nucleotide variant not specified [RCV004160568] ChrX:153770146 [GRCh38]
ChrX:153035601 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1819G>A (p.Glu607Lys) single nucleotide variant not specified [RCV004238787] ChrX:153770370 [GRCh38]
ChrX:153035825 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4610G>A (p.Arg1537His) single nucleotide variant not specified [RCV004211369] ChrX:153776095 [GRCh38]
ChrX:153041550 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.5038C>G (p.Arg1680Gly) single nucleotide variant not specified [RCV004074119] ChrX:153777318 [GRCh38]
ChrX:153042773 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1801C>T (p.Pro601Ser) single nucleotide variant not specified [RCV004181464] ChrX:153770352 [GRCh38]
ChrX:153035807 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1433C>G (p.Pro478Arg) single nucleotide variant not specified [RCV004162697] ChrX:153769199 [GRCh38]
ChrX:153034654 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2928G>C (p.Glu976Asp) single nucleotide variant not specified [RCV004174487] ChrX:153773251 [GRCh38]
ChrX:153038706 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4082G>A (p.Gly1361Asp) single nucleotide variant not specified [RCV004133369] ChrX:153775030 [GRCh38]
ChrX:153040485 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1226T>C (p.Met409Thr) single nucleotide variant not specified [RCV004206781] ChrX:153768388 [GRCh38]
ChrX:153033843 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3101G>A (p.Arg1034His) single nucleotide variant not specified [RCV004201156] ChrX:153773535 [GRCh38]
ChrX:153038990 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3266G>A (p.Gly1089Glu) single nucleotide variant not specified [RCV004136186] ChrX:153773700 [GRCh38]
ChrX:153039155 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3175C>G (p.Gln1059Glu) single nucleotide variant not specified [RCV004069904] ChrX:153773609 [GRCh38]
ChrX:153039064 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1903G>A (p.Ala635Thr) single nucleotide variant not specified [RCV004208879] ChrX:153770535 [GRCh38]
ChrX:153035990 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1057G>A (p.Val353Ile) single nucleotide variant not specified [RCV004202566] ChrX:153767884 [GRCh38]
ChrX:153033339 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5363A>G (p.Gln1788Arg) single nucleotide variant not specified [RCV004101492] ChrX:153778049 [GRCh38]
ChrX:153043504 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3463C>T (p.Arg1155Cys) single nucleotide variant not specified [RCV004166058] ChrX:153774042 [GRCh38]
ChrX:153039497 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1925G>A (p.Arg642Gln) single nucleotide variant PLXNB3-related disorder [RCV003918983]|not specified [RCV004207079] ChrX:153770557 [GRCh38]
ChrX:153036012 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_005393.3(PLXNB3):c.3289G>A (p.Val1097Ile) single nucleotide variant not provided [RCV003434626]|not specified [RCV004166472] ChrX:153773868 [GRCh38]
ChrX:153039323 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_005393.3(PLXNB3):c.4978C>G (p.Leu1660Val) single nucleotide variant not specified [RCV004115055] ChrX:153777258 [GRCh38]
ChrX:153042713 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1261T>C (p.Tyr421His) single nucleotide variant not specified [RCV004129510] ChrX:153768423 [GRCh38]
ChrX:153033878 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4291G>T (p.Ala1431Ser) single nucleotide variant not specified [RCV004187275] ChrX:153775360 [GRCh38]
ChrX:153040815 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2221G>A (p.Asp741Asn) single nucleotide variant not specified [RCV004080346] ChrX:153771049 [GRCh38]
ChrX:153036504 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.46-565G>A single nucleotide variant not specified [RCV004221418] ChrX:153766308 [GRCh38]
ChrX:153031763 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1942C>G (p.Gln648Glu) single nucleotide variant not specified [RCV004076350] ChrX:153770574 [GRCh38]
ChrX:153036029 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.718G>A (p.Asp240Asn) single nucleotide variant not specified [RCV004091847] ChrX:153767545 [GRCh38]
ChrX:153033000 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2471C>T (p.Pro824Leu) single nucleotide variant not specified [RCV004292218] ChrX:153771609 [GRCh38]
ChrX:153037064 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3356C>T (p.Pro1119Leu) single nucleotide variant not specified [RCV004323130] ChrX:153773935 [GRCh38]
ChrX:153039390 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1505G>A (p.Arg502Gln) single nucleotide variant not specified [RCV004280698] ChrX:153769815 [GRCh38]
ChrX:153035270 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2329A>G (p.Asn777Asp) single nucleotide variant not specified [RCV004274746] ChrX:153771385 [GRCh38]
ChrX:153036840 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2485G>C (p.Glu829Gln) single nucleotide variant not specified [RCV004263412] ChrX:153771623 [GRCh38]
ChrX:153037078 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2002G>A (p.Ala668Thr) single nucleotide variant not provided [RCV004703310]|not specified [RCV004255262] ChrX:153770634 [GRCh38]
ChrX:153036089 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.661C>T (p.Arg221Cys) single nucleotide variant not specified [RCV004263545] ChrX:153767488 [GRCh38]
ChrX:153032943 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.578C>T (p.Ala193Val) single nucleotide variant not specified [RCV004267118] ChrX:153767405 [GRCh38]
ChrX:153032860 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.778C>T (p.Arg260Cys) single nucleotide variant not specified [RCV004287475] ChrX:153767605 [GRCh38]
ChrX:153033060 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.11:g.153714363_153781647del deletion Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV003225624] ChrX:153714363..153781647 [GRCh38]
ChrX:Xq28		 pathogenic
NM_005393.3(PLXNB3):c.2135G>A (p.Arg712Gln) single nucleotide variant not specified [RCV004251687] ChrX:153770882 [GRCh38]
ChrX:153036337 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3560G>A (p.Arg1187His) single nucleotide variant not specified [RCV004256278] ChrX:153774226 [GRCh38]
ChrX:153039681 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1466C>T (p.Pro489Leu) single nucleotide variant not specified [RCV004268942] ChrX:153769232 [GRCh38]
ChrX:153034687 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.835G>A (p.Val279Ile) single nucleotide variant not specified [RCV004259957] ChrX:153767662 [GRCh38]
ChrX:153033117 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4876C>T (p.Arg1626Cys) single nucleotide variant not specified [RCV004351405] ChrX:153776929 [GRCh38]
ChrX:153042384 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.193A>G (p.Thr65Ala) single nucleotide variant not specified [RCV004354717] ChrX:153767020 [GRCh38]
ChrX:153032475 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1940C>A (p.Pro647Gln) single nucleotide variant PLXNB3-related disorder [RCV003393123] ChrX:153770572 [GRCh38]
ChrX:153036027 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2295C>G (p.Ile765Met) single nucleotide variant not specified [RCV004350158] ChrX:153771351 [GRCh38]
ChrX:153036806 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.536C>G (p.Pro179Arg) single nucleotide variant not specified [RCV004360172] ChrX:153767363 [GRCh38]
ChrX:153032818 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2365G>A (p.Ala789Thr) single nucleotide variant not provided [RCV003434751]|not specified [RCV004339987] ChrX:153771503 [GRCh38]
ChrX:153036958 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_005393.3(PLXNB3):c.2236C>T (p.His746Tyr) single nucleotide variant not specified [RCV004355818] ChrX:153771064 [GRCh38]
ChrX:153036519 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5366C>A (p.Thr1789Asn) single nucleotide variant not specified [RCV004352103] ChrX:153778052 [GRCh38]
ChrX:153043507 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152957297-153030789)x1 copy number loss not provided [RCV003483938] ChrX:152957297..153030789 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 copy number gain not provided [RCV003483987] ChrX:152941303..153549189 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 copy number gain not provided [RCV003483984] ChrX:152707335..153624154 [GRCh37]
ChrX:Xq28		 pathogenic
NM_005393.3(PLXNB3):c.786C>T (p.Tyr262=) single nucleotide variant not provided [RCV003432599] ChrX:153767613 [GRCh38]
ChrX:153033068 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2379G>A (p.Pro793=) single nucleotide variant not provided [RCV003432604] ChrX:153771517 [GRCh38]
ChrX:153036972 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
NM_005393.3(PLXNB3):c.5G>A (p.Cys2Tyr) single nucleotide variant not provided [RCV003432596] ChrX:153765540 [GRCh38]
ChrX:153030995 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1095C>T (p.Pro365=) single nucleotide variant not provided [RCV003432601] ChrX:153768257 [GRCh38]
ChrX:153033712 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4141C>T (p.Leu1381Phe) single nucleotide variant not provided [RCV003432607] ChrX:153775089 [GRCh38]
ChrX:153040544 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4302C>T (p.Tyr1434=) single nucleotide variant not provided [RCV003432608] ChrX:153775371 [GRCh38]
ChrX:153040826 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3377T>A (p.Leu1126Gln) single nucleotide variant PLXNB3-related disorder [RCV003391250] ChrX:153773956 [GRCh38]
ChrX:153039411 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.39C>G (p.His13Gln) single nucleotide variant not provided [RCV003432597] ChrX:153765574 [GRCh38]
ChrX:153031029 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1179C>T (p.Leu393=) single nucleotide variant not provided [RCV003432602] ChrX:153768341 [GRCh38]
ChrX:153033796 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3080G>A (p.Arg1027Gln) single nucleotide variant not provided [RCV003432605] ChrX:153773403 [GRCh38]
ChrX:153038858 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.5401G>A (p.Val1801Met) single nucleotide variant PLXNB3-related disorder [RCV003391245] ChrX:153778087 [GRCh38]
ChrX:153043542 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.46-613G>A single nucleotide variant not provided [RCV003457188] ChrX:153766260 [GRCh38]
ChrX:153031715 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3348dup (p.Ala1117fs) duplication PLXNB3-related disorder [RCV003402952] ChrX:153773926..153773927 [GRCh38]
ChrX:153039381..153039382 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.294C>T (p.Cys98=) single nucleotide variant not provided [RCV003432598] ChrX:153767121 [GRCh38]
ChrX:153032576 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2257T>C (p.Tyr753His) single nucleotide variant not provided [RCV003432603] ChrX:153771313 [GRCh38]
ChrX:153036768 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3247G>A (p.Ala1083Thr) single nucleotide variant not provided [RCV003432606] ChrX:153773681 [GRCh38]
ChrX:153039136 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.397G>A (p.Gly133Arg) single nucleotide variant PLXNB3-related disorder [RCV003402450] ChrX:153767224 [GRCh38]
ChrX:153032679 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.948C>G (p.Ala316=) single nucleotide variant not provided [RCV003432600] ChrX:153767775 [GRCh38]
ChrX:153033230 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.5547C>T (p.Ser1849=) single nucleotide variant not provided [RCV003432609] ChrX:153778468 [GRCh38]
ChrX:153043923 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3004C>T (p.Arg1002Cys) single nucleotide variant not provided [RCV003488286] ChrX:153773327 [GRCh38]
ChrX:153038782 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1066C>T (p.Arg356Cys) single nucleotide variant not provided [RCV003488287] ChrX:153767893 [GRCh38]
ChrX:153033348 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5014G>A (p.Val1672Met) single nucleotide variant not specified [RCV004509501] ChrX:153777294 [GRCh38]
ChrX:153042749 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4798C>T (p.His1600Tyr) single nucleotide variant not specified [RCV004509498] ChrX:153776424 [GRCh38]
ChrX:153041879 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2585G>T (p.Arg862Leu) single nucleotide variant not specified [RCV004509481] ChrX:153771931 [GRCh38]
ChrX:153037386 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3605G>A (p.Arg1202His) single nucleotide variant not specified [RCV004509486] ChrX:153774271 [GRCh38]
ChrX:153039726 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3769G>A (p.Gly1257Ser) single nucleotide variant not specified [RCV004509489] ChrX:153774510 [GRCh38]
ChrX:153039965 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.707G>C (p.Gly236Ala) single nucleotide variant not specified [RCV004509506] ChrX:153767534 [GRCh38]
ChrX:153032989 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4684G>A (p.Gly1562Ser) single nucleotide variant not specified [RCV004509497] ChrX:153776169 [GRCh38]
ChrX:153041624 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_005393.3(PLXNB3):c.1633A>T (p.Thr545Ser) single nucleotide variant not provided [RCV003993313] ChrX:153770095 [GRCh38]
ChrX:153035550 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.11:g.153670446_154329698dup duplication Chromosome Xq28 duplication syndrome [RCV003989462] ChrX:153670446..154329698 [GRCh38]
ChrX:Xq28		 pathogenic
NM_005393.3(PLXNB3):c.1072G>A (p.Val358Ile) single nucleotide variant not specified [RCV004509468] ChrX:153767899 [GRCh38]
ChrX:153033354 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1891G>A (p.Ala631Thr) single nucleotide variant not specified [RCV004509473] ChrX:153770442 [GRCh38]
ChrX:153035897 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2338G>A (p.Ala780Thr) single nucleotide variant not specified [RCV004509478] ChrX:153771394 [GRCh38]
ChrX:153036849 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2437G>A (p.Gly813Ser) single nucleotide variant not specified [RCV004509479] ChrX:153771575 [GRCh38]
ChrX:153037030 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2942G>A (p.Arg981His) single nucleotide variant not specified [RCV004509483] ChrX:153773265 [GRCh38]
ChrX:153038720 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.5680C>T (p.Arg1894Cys) single nucleotide variant not specified [RCV004509503] ChrX:153778989 [GRCh38]
ChrX:153044444 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4421T>C (p.Leu1474Pro) single nucleotide variant not specified [RCV004509495] ChrX:153775906 [GRCh38]
ChrX:153041361 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4003A>T (p.Thr1335Ser) single nucleotide variant PLXNB3-related disorder [RCV003946837] ChrX:153774951 [GRCh38]
ChrX:153040406 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.5100+2T>C single nucleotide variant not provided [RCV003993324] ChrX:153777382 [GRCh38]
ChrX:153042837 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.305G>A (p.Arg102His) single nucleotide variant PLXNB3-related disorder [RCV003927247] ChrX:153767132 [GRCh38]
ChrX:153032587 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.2020C>G (p.Gln674Glu) single nucleotide variant not specified [RCV004509476] ChrX:153770767 [GRCh38]
ChrX:153036222 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2843G>A (p.Arg948Gln) single nucleotide variant not specified [RCV004509482] ChrX:153772953 [GRCh38]
ChrX:153038408 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3364G>T (p.Val1122Phe) single nucleotide variant not specified [RCV004509485] ChrX:153773943 [GRCh38]
ChrX:153039398 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5197G>A (p.Asp1733Asn) single nucleotide variant not specified [RCV004509502] ChrX:153777624 [GRCh38]
ChrX:153043079 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4346T>C (p.Met1449Thr) single nucleotide variant not specified [RCV004509494] ChrX:153775605 [GRCh38]
ChrX:153041060 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3979G>A (p.Gly1327Arg) single nucleotide variant not specified [RCV004509490] ChrX:153774927 [GRCh38]
ChrX:153040382 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5491C>T (p.Arg1831Cys) single nucleotide variant PLXNB3-related disorder [RCV003962178] ChrX:153778412 [GRCh38]
ChrX:153043867 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1085T>C (p.Leu362Pro) single nucleotide variant not specified [RCV004509469] ChrX:153767912 [GRCh38]
ChrX:153033367 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1870G>A (p.Val624Ile) single nucleotide variant not specified [RCV004509472] ChrX:153770421 [GRCh38]
ChrX:153035876 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.1981G>A (p.Gly661Ser) single nucleotide variant not specified [RCV004509474] ChrX:153770613 [GRCh38]
ChrX:153036068 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1988G>C (p.Arg663Thr) single nucleotide variant not specified [RCV004509475] ChrX:153770620 [GRCh38]
ChrX:153036075 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2111G>A (p.Arg704His) single nucleotide variant not specified [RCV004509477] ChrX:153770858 [GRCh38]
ChrX:153036313 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2446G>A (p.Ala816Thr) single nucleotide variant not specified [RCV004509480] ChrX:153771584 [GRCh38]
ChrX:153037039 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3737C>T (p.Pro1246Leu) single nucleotide variant not specified [RCV004509488] ChrX:153774478 [GRCh38]
ChrX:153039933 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5687A>G (p.Gln1896Arg) single nucleotide variant not specified [RCV004509504] ChrX:153778996 [GRCh38]
ChrX:153044451 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4609C>T (p.Arg1537Cys) single nucleotide variant not specified [RCV004509496] ChrX:153776094 [GRCh38]
ChrX:153041549 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4292C>T (p.Ala1431Val) single nucleotide variant not specified [RCV004509493] ChrX:153775361 [GRCh38]
ChrX:153040816 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4112C>T (p.Thr1371Met) single nucleotide variant not specified [RCV004509492] ChrX:153775060 [GRCh38]
ChrX:153040515 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1016G>A (p.Arg339Gln) single nucleotide variant PLXNB3-related disorder [RCV003949139]|not specified [RCV004369815] ChrX:153767843 [GRCh38]
ChrX:153033298 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_005393.3(PLXNB3):c.2023G>A (p.Val675Met) single nucleotide variant PLXNB3-related disorder [RCV003934275] ChrX:153770770 [GRCh38]
ChrX:153036225 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_005393.3(PLXNB3):c.1428G>T (p.Gln476His) single nucleotide variant not specified [RCV004509470] ChrX:153769194 [GRCh38]
ChrX:153034649 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1777C>G (p.Pro593Ala) single nucleotide variant not specified [RCV004509471] ChrX:153770239 [GRCh38]
ChrX:153035694 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3187G>A (p.Ala1063Thr) single nucleotide variant not specified [RCV004509484] ChrX:153773621 [GRCh38]
ChrX:153039076 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3661G>A (p.Gly1221Ser) single nucleotide variant not specified [RCV004509487] ChrX:153774327 [GRCh38]
ChrX:153039782 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.4871T>C (p.Leu1624Pro) single nucleotide variant not specified [RCV004509499] ChrX:153776924 [GRCh38]
ChrX:153042379 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4016G>A (p.Arg1339His) single nucleotide variant not specified [RCV004509491] ChrX:153774964 [GRCh38]
ChrX:153040419 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4640C>G (p.Thr1547Ser) single nucleotide variant not provided [RCV004547143] ChrX:153776125 [GRCh38]
ChrX:153041580 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.250G>A (p.Glu84Lys) single nucleotide variant not specified [RCV004662314] ChrX:153767077 [GRCh38]
ChrX:153032532 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2027G>A (p.Arg676His) single nucleotide variant not specified [RCV004662318] ChrX:153770774 [GRCh38]
ChrX:153036229 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5492G>A (p.Arg1831His) single nucleotide variant not specified [RCV004662322] ChrX:153778413 [GRCh38]
ChrX:153043868 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4136G>A (p.Ser1379Asn) single nucleotide variant not specified [RCV004662324] ChrX:153775084 [GRCh38]
ChrX:153040539 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152954030)_(154005142_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV004582960]|Adrenoleukodystrophy [RCV004582961]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]|Creatine transporter deficiency [RCV004582962]|Dyskeratosis congenita [RCV004582964]|Spastic paraplegia [RCV004582965]|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963] ChrX:152954030..154005142 [GRCh37]
ChrX:Xq28		 pathogenic
NM_005393.3(PLXNB3):c.4574G>C (p.Gly1525Ala) single nucleotide variant not specified [RCV004662316] ChrX:153776059 [GRCh38]
ChrX:153041514 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4956G>C (p.Glu1652Asp) single nucleotide variant not specified [RCV004662320] ChrX:153777236 [GRCh38]
ChrX:153042691 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_005393.3(PLXNB3):c.4951G>A (p.Glu1651Lys) single nucleotide variant not specified [RCV004651474] ChrX:153777231 [GRCh38]
ChrX:153042686 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2804G>A (p.Arg935His) single nucleotide variant not specified [RCV004651475] ChrX:153772914 [GRCh38]
ChrX:153038369 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3553G>A (p.Glu1185Lys) single nucleotide variant not specified [RCV004651476] ChrX:153774219 [GRCh38]
ChrX:153039674 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.304C>T (p.Arg102Cys) single nucleotide variant not specified [RCV004651478] ChrX:153767131 [GRCh38]
ChrX:153032586 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3016G>A (p.Ala1006Thr) single nucleotide variant not specified [RCV004651479] ChrX:153773339 [GRCh38]
ChrX:153038794 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3037G>A (p.Ala1013Thr) single nucleotide variant not specified [RCV004651480] ChrX:153773360 [GRCh38]
ChrX:153038815 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.1189G>A (p.Val397Ile) single nucleotide variant not specified [RCV004651481] ChrX:153768351 [GRCh38]
ChrX:153033806 [GRCh37]
ChrX:Xq28		 likely benign
NM_005393.3(PLXNB3):c.3832C>A (p.His1278Asn) single nucleotide variant not specified [RCV004651482] ChrX:153774707 [GRCh38]
ChrX:153040162 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2399C>A (p.Ala800Glu) single nucleotide variant not specified [RCV004651483] ChrX:153771537 [GRCh38]
ChrX:153036992 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3534C>G (p.Asn1178Lys) single nucleotide variant not specified [RCV004651484] ChrX:153774200 [GRCh38]
ChrX:153039655 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3760G>A (p.Ala1254Thr) single nucleotide variant not specified [RCV004651485] ChrX:153774501 [GRCh38]
ChrX:153039956 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2867G>A (p.Gly956Asp) single nucleotide variant not specified [RCV004651487] ChrX:153772977 [GRCh38]
ChrX:153038432 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.2593G>A (p.Ala865Thr) single nucleotide variant not specified [RCV004662325] ChrX:153771939 [GRCh38]
ChrX:153037394 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5522T>C (p.Met1841Thr) single nucleotide variant not specified [RCV004662326] ChrX:153778443 [GRCh38]
ChrX:153043898 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4612G>A (p.Val1538Met) single nucleotide variant not specified [RCV004662328] ChrX:153776097 [GRCh38]
ChrX:153041552 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4877G>A (p.Arg1626His) single nucleotide variant not specified [RCV004662323] ChrX:153776930 [GRCh38]
ChrX:153042385 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5114A>G (p.Lys1705Arg) single nucleotide variant not specified [RCV004662327] ChrX:153777541 [GRCh38]
ChrX:153042996 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.5209G>A (p.Glu1737Lys) single nucleotide variant not specified [RCV004662315] ChrX:153777636 [GRCh38]
ChrX:153043091 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.4514G>A (p.Arg1505His) single nucleotide variant not specified [RCV004662317] ChrX:153775999 [GRCh38]
ChrX:153041454 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005393.3(PLXNB3):c.3326G>A (p.Arg1109Gln) single nucleotide variant not specified [RCV004662319] ChrX:153773905 [GRCh38]
ChrX:153039360 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4084
Count of miRNA genes:969
Interacting mature miRNAs:1196
Transcripts:ENST00000361971, ENST00000411613, ENST00000448847, ENST00000455214, ENST00000469190, ENST00000472415, ENST00000482654, ENST00000485980, ENST00000538282, ENST00000538543, ENST00000538776, ENST00000538966
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597192140GWAS1288214_Hpyruvate measurement QTL GWAS1288214 (human)2e-16pyruvate measurementblood pyruvate level (CMO:0002422)X153764329153764330Human
596974712GWAS1094231_Hpyruvate measurement QTL GWAS1094231 (human)2e-16pyruvate measurementblood pyruvate level (CMO:0002422)X153764329153764330Human

Markers in Region
A008P20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,041,066 - 153,041,401UniSTSGRCh37
Build 36X152,694,260 - 152,694,595RGDNCBI36
CeleraX153,274,748 - 153,275,083RGD
Cytogenetic MapXq28UniSTS
HuRefX141,698,131 - 141,698,466UniSTS
GeneMap99-GB4 RH MapX352.15UniSTS
A004O03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,044,678 - 153,044,777UniSTSGRCh37
Build 36X152,697,872 - 152,697,971RGDNCBI36
CeleraX153,278,360 - 153,278,459RGD
Cytogenetic MapXq28UniSTS
HuRefX141,701,742 - 141,701,841UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2430 2787 2237 4974 1710 2331 4 615 1759 456 2270 7091 6289 50 3734 1 835 1737 1606 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF149019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361971   ⟹   ENSP00000355378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,764,249 - 153,779,341 (+)Ensembl
Ensembl Acc Id: ENST00000411613   ⟹   ENSP00000391650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,774,759 - 153,776,956 (+)Ensembl
Ensembl Acc Id: ENST00000448847   ⟹   ENSP00000412454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,777,517 - 153,778,301 (+)Ensembl
Ensembl Acc Id: ENST00000455214   ⟹   ENSP00000396048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,775,976 - 153,777,032 (+)Ensembl
Ensembl Acc Id: ENST00000469190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,778,191 - 153,779,340 (+)Ensembl
Ensembl Acc Id: ENST00000472415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,778,382 - 153,779,340 (+)Ensembl
Ensembl Acc Id: ENST00000482654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,774,929 - 153,776,399 (+)Ensembl
Ensembl Acc Id: ENST00000485980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,777,242 - 153,778,326 (+)Ensembl
Ensembl Acc Id: ENST00000538966   ⟹   ENSP00000442736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,764,196 - 153,779,346 (+)Ensembl
RefSeq Acc Id: NM_001163257   ⟹   NP_001156729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,764,249 - 153,779,341 (+)NCBI
GRCh37X153,029,651 - 153,044,801 (+)RGD
GRCh37X153,029,651 - 153,044,801 (+)NCBI
CeleraX153,263,333 - 153,278,483 (+)RGD
HuRefX141,686,716 - 141,701,865 (+)ENTREZGENE
CHM1_1X152,904,061 - 152,919,212 (+)NCBI
T2T-CHM13v2.0X152,037,914 - 152,053,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005393   ⟹   NP_005384
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,764,249 - 153,779,341 (+)NCBI
GRCh37X153,029,651 - 153,044,801 (+)RGD
GRCh37X153,029,651 - 153,044,801 (+)NCBI
Build 36X152,682,905 - 152,697,989 (+)NCBI Archive
CeleraX153,263,333 - 153,278,483 (+)RGD
HuRefX141,686,716 - 141,701,865 (+)ENTREZGENE
CHM1_1X152,904,061 - 152,919,212 (+)NCBI
T2T-CHM13v2.0X152,037,914 - 152,053,006 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005384   ⟸   NM_005393
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9ULL4 (UniProtKB/Swiss-Prot),   F5H773 (UniProtKB/Swiss-Prot),   B7Z3E6 (UniProtKB/Swiss-Prot),   Q9HDA4 (UniProtKB/Swiss-Prot),   A8K920 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001156729   ⟸   NM_001163257
- Peptide Label: isoform 2
- UniProtKB: A8K920 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000391650   ⟸   ENST00000411613
Ensembl Acc Id: ENSP00000355378   ⟸   ENST00000361971
Ensembl Acc Id: ENSP00000396048   ⟸   ENST00000455214
Ensembl Acc Id: ENSP00000442736   ⟸   ENST00000538966
Ensembl Acc Id: ENSP00000412454   ⟸   ENST00000448847
Protein Domains
IPT/TIG   Plexin cytoplasmic RasGAP   Plexin cytoplasmic RhoGTPase-binding   PSI   Sema

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULL4-F1-model_v2 AlphaFold Q9ULL4 1-1909 view protein structure

Promoters
RGD ID:6809151
Promoter ID:HG_KWN:68556
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001163257,   UC004FII.1,   UC010NUK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,682,241 - 152,683,042 (+)MPROMDB
RGD ID:6809150
Promoter ID:HG_KWN:68558
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000061067,   OTTHUMT00000061070,   UC004FIJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,692,091 - 152,693,342 (+)MPROMDB
RGD ID:6809288
Promoter ID:HG_KWN:68559
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat
Transcripts:OTTHUMT00000061065,   UC004FIK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,694,559 - 152,695,059 (+)MPROMDB
RGD ID:6809137
Promoter ID:HG_KWN:68560
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061064,   OTTHUMT00000061066
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,695,541 - 152,696,192 (+)MPROMDB
RGD ID:6809136
Promoter ID:HG_KWN:68561
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000061068,   OTTHUMT00000061069
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,696,391 - 152,697,237 (+)MPROMDB
RGD ID:13628516
Promoter ID:EPDNEW_H29496
Type:initiation region
Name:PLXNB3_1
Description:plexin B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29497  EPDNEW_H29499  EPDNEW_H29500  EPDNEW_H29501  EPDNEW_H29502  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,764,249 - 153,764,309EPDNEW
RGD ID:13628518
Promoter ID:EPDNEW_H29497
Type:initiation region
Name:PLXNB3_2
Description:plexin B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29496  EPDNEW_H29499  EPDNEW_H29500  EPDNEW_H29501  EPDNEW_H29502  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,765,508 - 153,765,568EPDNEW
RGD ID:13628522
Promoter ID:EPDNEW_H29499
Type:initiation region
Name:PLXNB3_4
Description:plexin B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29496  EPDNEW_H29497  EPDNEW_H29500  EPDNEW_H29501  EPDNEW_H29502  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,776,876 - 153,776,936EPDNEW
RGD ID:13628524
Promoter ID:EPDNEW_H29500
Type:initiation region
Name:PLXNB3_3
Description:plexin B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29496  EPDNEW_H29497  EPDNEW_H29499  EPDNEW_H29501  EPDNEW_H29502  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,777,237 - 153,777,297EPDNEW
RGD ID:13628526
Promoter ID:EPDNEW_H29501
Type:initiation region
Name:PLXNB3_6
Description:plexin B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29496  EPDNEW_H29497  EPDNEW_H29499  EPDNEW_H29500  EPDNEW_H29502  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,778,520 - 153,778,580EPDNEW
RGD ID:13628528
Promoter ID:EPDNEW_H29502
Type:initiation region
Name:PLXNB3_5
Description:plexin B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29496  EPDNEW_H29497  EPDNEW_H29499  EPDNEW_H29500  EPDNEW_H29501  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,779,026 - 153,779,086EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9105 AgrOrtholog
COSMIC PLXNB3 COSMIC
Ensembl Genes ENSG00000198753 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361971 ENTREZGENE
  ENST00000361971.10 UniProtKB/Swiss-Prot
  ENST00000411613.5 UniProtKB/TrEMBL
  ENST00000448847.1 UniProtKB/TrEMBL
  ENST00000455214.1 UniProtKB/TrEMBL
  ENST00000538966 ENTREZGENE
  ENST00000538966.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTPase Activation - p120gap, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198753 GTEx
HGNC ID HGNC:9105 ENTREZGENE
Human Proteome Map PLXNB3 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin_cytoplasmic_RasGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin_RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG1_plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG2_plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5365 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5365 ENTREZGENE
OMIM 300214 OMIM
PANTHER PLEXIN-B3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22625 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Plexin_cytopl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin_RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG_plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33431 PharmGKB
PROSITE SEMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Plexin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K920 ENTREZGENE, UniProtKB/TrEMBL
  B7Z3E6 ENTREZGENE
  F5H773 ENTREZGENE
  H7BZV5_HUMAN UniProtKB/TrEMBL
  H7C0P4_HUMAN UniProtKB/TrEMBL
  H7C3L0_HUMAN UniProtKB/TrEMBL
  PLXB3_HUMAN UniProtKB/Swiss-Prot
  Q9HDA4 ENTREZGENE
  Q9ULL4 ENTREZGENE
UniProt Secondary B7Z3E6 UniProtKB/Swiss-Prot
  F5H773 UniProtKB/Swiss-Prot
  Q9HDA4 UniProtKB/Swiss-Prot