SRPX2 (sushi repeat containing protein X-linked 2) - Rat Genome Database

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Gene: SRPX2 (sushi repeat containing protein X-linked 2) Homo sapiens
Analyze
Symbol: SRPX2
Name: sushi repeat containing protein X-linked 2
RGD ID: 1350450
HGNC Page HGNC
Description: Exhibits hepatocyte growth factor binding activity; identical protein binding activity; and signaling receptor binding activity. Involved in several processes, including cell-cell adhesion; positive regulation of synapse assembly; and regulation of phosphorylation. Localizes to cytoplasm and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BPP; CBPS; PMGX; RESDX; SRPUL; sushi repeat containing protein, X-linked 2; sushi repeat-containing protein SRPX2; sushi-repeat containing protein, X-linked 2; sushi-repeat protein up-regulated in leukemia; sushi-repeat protein upregulated in leukemia; sushi-repeat-containing protein, X-linked 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX100,644,195 - 100,675,788 (+)EnsemblGRCh38hg38GRCh38
GRCh38X100,644,199 - 100,675,788 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,899,196 - 99,930,785 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,785,819 - 99,812,952 (+)NCBINCBI36hg18NCBI36
Build 34X99,705,369 - 99,732,435NCBI
CeleraX100,417,899 - 100,445,036 (+)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,699,083 - 89,726,241 (+)NCBIHuRef
CHM1_1X99,792,044 - 99,819,192 (+)NCBICHM1_1
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
Abnormal speech prosody  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormally low-pitched voice  (IAGP)
Angiokeratoma corporis diffusum  (IAGP)
Anxiety  (IAGP)
Apnea  (IAGP)
Aspiration  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral perisylvian polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Choanal atresia  (IAGP)
Continuous spike and waves during slow sleep  (IAGP)
Delayed speech and language development  (IAGP)
Depressivity  (IAGP)
Distal arthrogryposis  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysesthesia  (IAGP)
Dysmetria  (IAGP)
Ectopic posterior pituitary  (IAGP)
EEG with central focal spikes  (IAGP)
EEG with centrotemporal focal spike waves  (IAGP)
EEG with focal sharp waves  (IAGP)
EEG with frontal focal spikes  (IAGP)
EEG with generalized epileptiform discharges  (IAGP)
EEG with irregular generalized spike and wave complexes  (IAGP)
EEG with parietal focal spikes  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Facial diplegia  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Focal hemifacial clonic seizure  (IAGP)
Focal sensory seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frontoparietal polymicrogyria  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Incomprehensible speech  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, borderline  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Laryngospasm  (IAGP)
Limb hypertonia  (IAGP)
Lower limb spasticity  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Migraine  (IAGP)
Mood changes  (IAGP)
Nasal speech  (IAGP)
Nystagmus  (IAGP)
Oromotor apraxia  (IAGP)
Paraparesis  (IAGP)
Pectus excavatum  (IAGP)
Perisylvian predominant thick cortex pachygyria  (IAGP)
Protruding tongue  (IAGP)
Pseudobulbar paralysis  (IAGP)
Schizophrenia  (IAGP)
Short attention span  (IAGP)
Sleep apnea  (IAGP)
Spastic tetraplegia  (IAGP)
Specific learning disability  (IAGP)
Speech apraxia  (IAGP)
Speech articulation difficulties  (IAGP)
References

Additional References at PubMed
PMID:209648   PMID:9864177   PMID:11375929   PMID:11822025   PMID:15342556   PMID:15489334   PMID:15772651   PMID:16303743   PMID:16344560   PMID:16497722   PMID:17942002   PMID:18029348  
PMID:18718938   PMID:19065654   PMID:19667118   PMID:20236627   PMID:20858596   PMID:22242148   PMID:23115050   PMID:23933820   PMID:24179158   PMID:24700475   PMID:24995671   PMID:25037231  
PMID:25737434   PMID:28654796   PMID:28867754   PMID:30393191   PMID:30551519   PMID:32455867   PMID:32550700  


Genomics

Comparative Map Data
SRPX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX100,644,195 - 100,675,788 (+)EnsemblGRCh38hg38GRCh38
GRCh38X100,644,199 - 100,675,788 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,899,196 - 99,930,785 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,785,819 - 99,812,952 (+)NCBINCBI36hg18NCBI36
Build 34X99,705,369 - 99,732,435NCBI
CeleraX100,417,899 - 100,445,036 (+)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,699,083 - 89,726,241 (+)NCBIHuRef
CHM1_1X99,792,044 - 99,819,192 (+)NCBICHM1_1
Srpx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X132,809,155 - 132,833,195 (+)NCBIGRCm39mm39
GRCm39 EnsemblX132,809,175 - 132,833,195 (+)Ensembl
GRCm38X133,908,416 - 133,932,448 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX133,908,426 - 133,932,446 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X130,442,965 - 130,467,001 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X129,255,046 - 129,278,164 (+)NCBImm8
CeleraX116,784,471 - 116,808,449 (+)NCBICelera
Cytogenetic MapXE3NCBI
Srpx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,106,455 - 97,132,197 (+)NCBI
Rnor_6.0 EnsemblX104,734,082 - 104,760,547 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X104,734,035 - 104,760,658 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X104,569,972 - 104,594,902 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,446,756 - 121,468,691 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX98,154,669 - 98,178,553 (+)NCBICelera
Cytogenetic MapXq32NCBI
Srpx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555036,795,734 - 6,821,119 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555036,795,793 - 6,817,779 (+)NCBIChiLan1.0ChiLan1.0
SRPX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X99,994,560 - 100,021,241 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX99,994,560 - 100,021,241 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X89,854,389 - 89,886,776 (+)NCBIMhudiblu_PPA_v0panPan3
SRPX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X74,513,473 - 74,536,446 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX74,513,774 - 74,534,910 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X75,923,141 - 75,944,851 (+)NCBI
UMICH_Zoey_3.1X73,485,604 - 73,507,297 (+)NCBI
UNSW_CanFamBas_1.0X75,155,899 - 75,177,590 (+)NCBI
UU_Cfam_GSD_1.0X74,916,918 - 74,938,615 (+)NCBI
Srpx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,671,204 - 63,697,221 (-)NCBI
SpeTri2.0NW_0049365845,855,818 - 5,879,478 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRPX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,336,798 - 82,363,860 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,336,741 - 82,363,868 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X90,178,156 - 90,205,276 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRPX2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X88,954,310 - 88,982,608 (+)NCBI
ChlSab1.1 EnsemblX88,957,316 - 88,982,305 (+)Ensembl
Srpx2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,944,073 - 1,967,106 (-)NCBI

Position Markers
DXS8103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X150,115,164 - 150,115,403UniSTSGRCh37
GRCh37933,801,401 - 33,802,059UniSTSGRCh37
Build 36X149,865,822 - 149,866,061RGDNCBI36
CeleraX150,363,060 - 150,363,299RGD
Celera933,733,252 - 33,733,910UniSTS
Cytogenetic MapXq21.33-q23UniSTS
HuRefX138,975,519 - 138,975,760UniSTS
Marshfield Genetic MapX100.73UniSTS
Marshfield Genetic MapX100.73RGD
Genethon Genetic MapX192.5UniSTS
deCODE Assembly MapX178.77UniSTS
Whitehead-YAC Contig MapX UniSTS
AL035142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,906,826 - 99,906,946UniSTSGRCh37
Build 36X99,793,482 - 99,793,602RGDNCBI36
CeleraX100,425,562 - 100,425,682RGD
Cytogenetic MapXq21.33-q23UniSTS
HuRefX89,706,745 - 89,706,865UniSTS
SHGC-78996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,921,658 - 99,921,941UniSTSGRCh37
Build 36X99,808,314 - 99,808,597RGDNCBI36
CeleraX100,440,396 - 100,440,679RGD
Cytogenetic MapXq21.33-q23UniSTS
HuRefX89,721,600 - 89,721,883UniSTS
TNG Radiation Hybrid MapX22397.0UniSTS
DXS9763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,929,554 - 99,929,703UniSTSGRCh37
Build 36X99,816,210 - 99,816,359RGDNCBI36
CeleraX100,448,294 - 100,448,443RGD
Cytogenetic MapXq21.33-q23UniSTS
Cytogenetic MapXq21.33UniSTS
Stanford-G3 RH MapX3240.0UniSTS
GeneMap99-G3 RH MapX3261.0UniSTS
DXS7762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,921,347 - 99,921,414UniSTSGRCh37
Build 36X99,808,003 - 99,808,070RGDNCBI36
CeleraX100,440,085 - 100,440,152RGD
Cytogenetic MapXq21.33-q23UniSTS
HuRefX89,721,289 - 89,721,356UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:543
Count of miRNA genes:390
Interacting mature miRNAs:426
Transcripts:ENST00000373004, ENST00000481988
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 643 964 166 52 186 46 1731 364 685 87 445 760 17 1190 1009 2
Low 1737 1274 1529 561 377 409 2438 1805 1013 264 984 769 155 1 14 1764 2 1
Below cutoff 47 643 27 10 725 10 143 23 2007 63 21 45 3 15

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373004   ⟹   ENSP00000362095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,644,199 - 100,675,788 (+)Ensembl
RefSeq Acc Id: ENST00000481988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,644,221 - 100,651,095 (+)Ensembl
RefSeq Acc Id: ENST00000638319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,650,186 - 100,665,306 (+)Ensembl
RefSeq Acc Id: ENST00000638458   ⟹   ENSP00000492168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,646,323 - 100,666,884 (+)Ensembl
RefSeq Acc Id: ENST00000638738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,646,086 - 100,649,489 (+)Ensembl
RefSeq Acc Id: ENST00000638920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,649,480 - 100,671,079 (+)Ensembl
RefSeq Acc Id: ENST00000640020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,644,199 - 100,662,289 (+)Ensembl
RefSeq Acc Id: ENST00000640282   ⟹   ENSP00000491188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,666,927 - 100,671,144 (+)Ensembl
RefSeq Acc Id: ENST00000640889   ⟹   ENSP00000492571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,644,195 - 100,665,547 (+)Ensembl
RefSeq Acc Id: ENST00000677630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,650,577 - 100,667,407 (+)Ensembl
RefSeq Acc Id: ENST00000679590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,661,980 - 100,667,407 (+)Ensembl
RefSeq Acc Id: NM_014467   ⟹   NP_055282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,644,199 - 100,675,788 (+)NCBI
GRCh37X99,899,163 - 99,926,296 (+)ENTREZGENE
GRCh37X99,899,163 - 99,926,296 (+)NCBI
Build 36X99,785,819 - 99,812,952 (+)NCBI Archive
HuRefX89,699,083 - 89,726,241 (+)ENTREZGENE
CHM1_1X99,792,044 - 99,819,192 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055282   ⟸   NM_014467
- Peptide Label: precursor
- UniProtKB: O60687 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362095   ⟸   ENST00000373004
RefSeq Acc Id: ENSP00000492168   ⟸   ENST00000638458
RefSeq Acc Id: ENSP00000492571   ⟸   ENST00000640889
RefSeq Acc Id: ENSP00000491188   ⟸   ENST00000640282
Protein Domains
DUF4174   HYR   Sushi

Promoters
RGD ID:6809285
Promoter ID:HG_KWN:67467
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_014467,   OTTHUMT00000057487
Position:
Human AssemblyChrPosition (strand)Source
Build 36X99,785,521 - 99,786,021 (+)MPROMDB
RGD ID:13627588
Promoter ID:EPDNEW_H29070
Type:initiation region
Name:SRPX2_1
Description:sushi repeat containing protein, X-linked 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29071  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,644,199 - 100,644,259EPDNEW
RGD ID:13627594
Promoter ID:EPDNEW_H29071
Type:initiation region
Name:SRPX2_2
Description:sushi repeat containing protein, X-linked 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29070  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,644,406 - 100,644,466EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.10:g.(?_99551255)_(99926004_?)del deletion Early infantile epileptic encephalopathy 9 [RCV000545068] ChrX:99551255..99926004 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_014467.3(SRPX2):c.1165G>A (p.Val389Met) single nucleotide variant not specified [RCV000519890] ChrX:100669317 [GRCh38]
ChrX:99924314 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_014467.3(SRPX2):c.982G>A (p.Val328Ile) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000640866] ChrX:100667294 [GRCh38]
ChrX:99922291 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.1289G>A (p.Arg430His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000551378] ChrX:100670878 [GRCh38]
ChrX:99925875 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000552615] ChrX:100662317 [GRCh38]
ChrX:99917314 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.732T>C (p.Tyr244=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000554098] ChrX:100665608 [GRCh38]
ChrX:99920605 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000011522]|not provided [RCV000723813]|not specified [RCV000189573] ChrX:100667292 [GRCh38]
ChrX:99922289 [GRCh37]
ChrX:Xq22.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000011523] ChrX:100662227 [GRCh38]
ChrX:99917224 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 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 Xq22.1(chrX:100665849-101051159)x2 copy number gain See cases [RCV000054229] ChrX:100665849..101051159 [GRCh38]
ChrX:99920846..100306148 [GRCh37]
ChrX:99807502..100192804 [NCBI36]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001221239]|not provided [RCV000723642]|not specified [RCV000189558] ChrX:100665315 [GRCh38]
ChrX:99920312 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001086107]|not provided [RCV000710230]|not specified [RCV000193138] ChrX:100666812 [GRCh38]
ChrX:99921809 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.1294A>G (p.Met432Val) single nucleotide variant not provided [RCV000118413] ChrX:100670883 [GRCh38]
ChrX:99925880 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001087770]|not specified [RCV000189564] ChrX:100670962 [GRCh38]
ChrX:99925959 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001085267]|not provided [RCV000424626]|not specified [RCV000195094] ChrX:100664878 [GRCh38]
ChrX:99919875 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.961+12C>T single nucleotide variant not specified [RCV000128285] ChrX:100666945 [GRCh38]
ChrX:99921942 [GRCh37]
ChrX:Xq22.1
benign
NM_014467.3(SRPX2):c.1218-6C>T single nucleotide variant not specified [RCV000128286] ChrX:100670801 [GRCh38]
ChrX:99925798 [GRCh37]
ChrX:Xq22.1
benign
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001084982]|not provided [RCV000459427]|not specified [RCV000128287] ChrX:100670882 [GRCh38]
ChrX:99925879 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_014467.3(SRPX2):c.163+12T>C single nucleotide variant not specified [RCV000128288] ChrX:100650877 [GRCh38]
ChrX:99905874 [GRCh37]
ChrX:Xq22.1
benign
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 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.1248C>T (p.Phe416=) single nucleotide variant not provided [RCV000174126] ChrX:100670837 [GRCh38]
ChrX:99925834 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.1(chrX:100286152-100924659)x2 copy number gain See cases [RCV000138284] ChrX:100286152..100924659 [GRCh38]
ChrX:99541150..100179648 [GRCh37]
ChrX:99427806..100066304 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq22.1(chrX:100650751-100680705)x3 copy number gain See cases [RCV000139310] ChrX:100650751..100680705 [GRCh38]
ChrX:99905748..99935702 [GRCh37]
ChrX:99792404..99822358 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.164T>C (p.Val55Ala) single nucleotide variant not specified [RCV000194039] ChrX:100662176 [GRCh38]
ChrX:99917173 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001083293]|not provided [RCV000724603]|not specified [RCV000179944] ChrX:100665569 [GRCh38]
ChrX:99920566 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000703602]|not provided [RCV000180317] ChrX:100666892 [GRCh38]
ChrX:99921889 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000545163]|not provided [RCV000724808] ChrX:100667293 [GRCh38]
ChrX:99922290 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.1255G>A (p.Val419Met) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001222368]|not specified [RCV000192999] ChrX:100670844 [GRCh38]
ChrX:99925841 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.660-16del deletion not specified [RCV000189559] ChrX:100665520 [GRCh38]
ChrX:99920517 [GRCh37]
ChrX:Xq22.1
benign
NM_014467.3(SRPX2):c.-37A>G single nucleotide variant not specified [RCV000189562] ChrX:100646286 [GRCh38]
ChrX:99901283 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.277C>T (p.Arg93Trp) single nucleotide variant not provided [RCV000189568] ChrX:100662289 [GRCh38]
ChrX:99917286 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.533-1G>A single nucleotide variant not provided [RCV000189569] ChrX:100665242 [GRCh38]
ChrX:99920239 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.943T>C (p.Ser315Pro) single nucleotide variant not provided [RCV000189572] ChrX:100666915 [GRCh38]
ChrX:99921912 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1177C>T (p.Arg393Trp) single nucleotide variant not provided [RCV000189576] ChrX:100669329 [GRCh38]
ChrX:99924326 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1202T>C (p.Ile401Thr) single nucleotide variant not provided [RCV000189577] ChrX:100669354 [GRCh38]
ChrX:99924351 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.256C>T (p.Arg86Cys) single nucleotide variant not provided [RCV000189579] ChrX:100662268 [GRCh38]
ChrX:99917265 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) single nucleotide variant History of neurodevelopmental disorder [RCV000721079]|Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000467339]|not specified [RCV000189546] ChrX:100664899 [GRCh38]
ChrX:99919896 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_014467.2(SRPX2):c.326G>A (p.Arg109His) single nucleotide variant not specified [RCV000189557] ChrX:100662338 [GRCh38]
ChrX:99917335 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000231804]|not specified [RCV000189560] ChrX:100666781 [GRCh38]
ChrX:99921778 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000694901]|not specified [RCV000189561] ChrX:100669351 [GRCh38]
ChrX:99924348 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_014467.3(SRPX2):c.1229G>A (p.Arg410His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001042040]|not specified [RCV000189563] ChrX:100670818 [GRCh38]
ChrX:99925815 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001078974]|not provided [RCV000766861]|not specified [RCV000189565] ChrX:100662236 [GRCh38]
ChrX:99917233 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001214148]|not provided [RCV000766864]|not specified [RCV000189566] ChrX:100662260 [GRCh38]
ChrX:99917257 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.257G>A (p.Arg86His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000864674]|not specified [RCV000189567] ChrX:100662269 [GRCh38]
ChrX:99917266 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_014467.3(SRPX2):c.751G>A (p.Ala251Thr) single nucleotide variant not provided [RCV000189570] ChrX:100665627 [GRCh38]
ChrX:99920624 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.893G>A (p.Arg298His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001351560]|not specified [RCV000189571] ChrX:100666865 [GRCh38]
ChrX:99921862 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000625846]|not provided [RCV000713523]|not specified [RCV000189575] ChrX:100667342 [GRCh38]
ChrX:99922339 [GRCh37]
ChrX:Xq22.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014467.3(SRPX2):c.127G>A (p.Glu43Lys) single nucleotide variant not provided [RCV000189578] ChrX:100650829 [GRCh38]
ChrX:99905826 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.928C>T (p.Arg310Cys) single nucleotide variant not specified [RCV000189580] ChrX:100666900 [GRCh38]
ChrX:99921897 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.1224T>G (p.Phe408Leu) single nucleotide variant not provided [RCV000317339] ChrX:100670813 [GRCh38]
ChrX:99925810 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1012T>A (p.Phe338Ile) single nucleotide variant not provided [RCV000356903] ChrX:100667324 [GRCh38]
ChrX:99922321 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000541362]|not specified [RCV000358085] ChrX:100665356 [GRCh38]
ChrX:99920353 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_014467.3(SRPX2):c.817G>A (p.Gly273Ser) single nucleotide variant not provided [RCV000520502] ChrX:100666789 [GRCh38]
ChrX:99921786 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000723306] ChrX:100665270 [GRCh38]
ChrX:99920267 [GRCh37]
ChrX:Xq22.1
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_014467.3(SRPX2):c.718C>T (p.Arg240Cys) single nucleotide variant not provided [RCV000520536] ChrX:100665594 [GRCh38]
ChrX:99920591 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_014467.3(SRPX2):c.1099del (p.Ser367fs) deletion not provided [RCV000599223] ChrX:100669251 [GRCh38]
ChrX:99924248 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.962-16C>T single nucleotide variant not specified [RCV000611798] ChrX:100667258 [GRCh38]
ChrX:99922255 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.1144G>A (p.Val382Met) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000640864] ChrX:100669296 [GRCh38]
ChrX:99924293 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.99G>T (p.Pro33=) single nucleotide variant not provided [RCV000640868] ChrX:100650801 [GRCh38]
ChrX:99905798 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu) single nucleotide variant not provided [RCV000731426] ChrX:100662233 [GRCh38]
ChrX:99917230 [GRCh37]
ChrX:Xq22.1
uncertain significance
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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)x1 copy number loss See cases [RCV000446413] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.624G>A (p.Pro208=) single nucleotide variant not specified [RCV000427196] ChrX:100665334 [GRCh38]
ChrX:99920331 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.564C>T (p.His188=) single nucleotide variant not specified [RCV000443259] ChrX:100665274 [GRCh38]
ChrX:99920271 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000990912]|not specified [RCV000436301] ChrX:100664867 [GRCh38]
ChrX:99919864 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000864515]|not specified [RCV000444138] ChrX:100662335 [GRCh38]
ChrX:99917332 [GRCh37]
ChrX:Xq22.1
benign|likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99920652-100125803)x2 copy number gain See cases [RCV000448899] ChrX:99920652..100125803 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000459233] ChrX:100650863 [GRCh38]
ChrX:99905860 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.11:g.(?_100644166)_(100671299_?)del deletion Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000472066] ChrX:100644166..100671299 [GRCh38]
ChrX:99899163..99926296 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000468707] ChrX:100667340 [GRCh38]
ChrX:99922337 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.160C>A (p.Arg54=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000473307] ChrX:100650862 [GRCh38]
ChrX:99905859 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.542C>G (p.Pro181Arg) single nucleotide variant not specified [RCV000503547] ChrX:100665252 [GRCh38]
ChrX:99920249 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.515G>A (p.Gly172Asp) single nucleotide variant not specified [RCV000501436] ChrX:100664933 [GRCh38]
ChrX:99919930 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
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
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xq21.33-22.1(chrX:97026936-99973825)x3 copy number gain See cases [RCV000511720] ChrX:97026936..99973825 [GRCh37]
ChrX:Xq21.33-22.1
likely benign
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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_014467.3(SRPX2):c.329G>A (p.Arg110His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000528904] ChrX:100662341 [GRCh38]
ChrX:99917338 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1064G>A (p.Arg355Gln) single nucleotide variant not specified [RCV000613439] ChrX:100667376 [GRCh38]
ChrX:99922373 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000540118] ChrX:100662186 [GRCh38]
ChrX:99917183 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.742T>C (p.Tyr248His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000530124] ChrX:100665618 [GRCh38]
ChrX:99920615 [GRCh37]
ChrX:Xq22.1
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 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
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_014467.3(SRPX2):c.17C>T (p.Thr6Ile) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000640863] ChrX:100646339 [GRCh38]
ChrX:99901336 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_014467.3(SRPX2):c.1011A>G (p.Gln337=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000707448] ChrX:100667323 [GRCh38]
ChrX:99922320 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000696668] ChrX:100670902 [GRCh38]
ChrX:99925899 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1238G>A (p.Arg413His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000686809] ChrX:100670827 [GRCh38]
ChrX:99925824 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99430457-100047314)x1 copy number loss not provided [RCV000845838] ChrX:99430457..100047314 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000721011]|Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001056124] ChrX:100665613 [GRCh38]
ChrX:99920610 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=) single nucleotide variant History of neurodevelopmental disorder [RCV000720989]|Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000863156] ChrX:100670810 [GRCh38]
ChrX:99925807 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xq22.1(chrX:99764215-100150502)x3 copy number gain not provided [RCV000753686] ChrX:99764215..100150502 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99881576-99918666)x2 copy number gain not provided [RCV000753687] ChrX:99881576..99918666 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_99551255)_(99926004_?)dup duplication Early infantile epileptic encephalopathy 9 [RCV001031703] ChrX:99551255..99926004 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.918T>C (p.Cys306=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001079024]|not provided [RCV000863498] ChrX:100666890 [GRCh38]
ChrX:99921887 [GRCh37]
ChrX:Xq22.1
benign
NM_014467.3(SRPX2):c.369C>T (p.His123=) single nucleotide variant not provided [RCV000870723] ChrX:100664787 [GRCh38]
ChrX:99919784 [GRCh37]
ChrX:Xq22.1
likely benign
NC_000023.11:g.(?_100646303)_(100671007_?)dup duplication Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001033539] ChrX:99901300..99926004 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001048887] ChrX:100665601 [GRCh38]
ChrX:99920598 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.10:g.(?_99551255)_(99905882_?)del deletion Early infantile epileptic encephalopathy 9 [RCV001033048] ChrX:99551255..99905882 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_014467.3(SRPX2):c.99G>A (p.Pro33=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001070706] ChrX:100650801 [GRCh38]
ChrX:99905798 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.355+8G>A single nucleotide variant not provided [RCV000981854] ChrX:100662375 [GRCh38]
ChrX:99917372 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.356-295T>C single nucleotide variant not provided [RCV000827938] ChrX:100664479 [GRCh38]
ChrX:99919476 [GRCh37]
ChrX:Xq22.1
benign
NM_014467.3(SRPX2):c.782-27C>T single nucleotide variant not provided [RCV000835872] ChrX:100666727 [GRCh38]
ChrX:99921724 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000803774] ChrX:100665582 [GRCh38]
ChrX:99920579 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.781+321G>A single nucleotide variant not provided [RCV000826291] ChrX:100665978 [GRCh38]
ChrX:99920975 [GRCh37]
ChrX:Xq22.1
benign
NM_014467.3(SRPX2):c.82+243C>T single nucleotide variant not provided [RCV000837054] ChrX:100646647 [GRCh38]
ChrX:99901644 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2 copy number gain not provided [RCV000848726] ChrX:98987165..100421459 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000822203] ChrX:100662214 [GRCh38]
ChrX:99917211 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.356-38G>A single nucleotide variant not provided [RCV000829953] ChrX:100664736 [GRCh38]
ChrX:99919733 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001170033] ChrX:100669335 [GRCh38]
ChrX:99924332 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001219579] ChrX:100664788 [GRCh38]
ChrX:99919785 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001247964] ChrX:100667358 [GRCh38]
ChrX:99922355 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_014467.3(SRPX2):c.1083C>T (p.Ile361=) single nucleotide variant not provided [RCV000929759] ChrX:100667395 [GRCh38]
ChrX:99922392 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.355+8G>T single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000930916] ChrX:100662375 [GRCh38]
ChrX:99917372 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001209711] ChrX:100670865 [GRCh38]
ChrX:99925862 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1365C>T (p.Thr455=) single nucleotide variant not provided [RCV000933614] ChrX:100670954 [GRCh38]
ChrX:99925951 [GRCh37]
ChrX:Xq22.1
likely benign
NM_014467.3(SRPX2):c.602C>T (p.Ala201Val) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV000990913] ChrX:100665312 [GRCh38]
ChrX:99920309 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_014467.3(SRPX2):c.431G>A (p.Arg144His) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001211101] ChrX:100664849 [GRCh38]
ChrX:99919846 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1143G>A (p.Leu381=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001042670] ChrX:100669295 [GRCh38]
ChrX:99924292 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001216155] ChrX:100665296 [GRCh38]
ChrX:99920293 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001206970] ChrX:100650819 [GRCh38]
ChrX:99905816 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.11:g.(?_100652778)_(100653935_100655653)del deletion Fabry disease [RCV001255496] ChrX:100652778..100653935 [GRCh38]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq22.1(chrX:99858343-100348232)x3 copy number gain not provided [RCV001259486] ChrX:99858343..100348232 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99581496-100047228)x2 copy number gain not provided [RCV001259487] ChrX:99581496..100047228 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.371C>T (p.Ala124Val) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001304674] ChrX:100664789 [GRCh38]
ChrX:99919786 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
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 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_014467.3(SRPX2):c.1288C>T (p.Arg430Cys) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001349239] ChrX:100670877 [GRCh38]
ChrX:99925874 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.1129A>G (p.Thr377Ala) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001312244] ChrX:100669281 [GRCh38]
ChrX:99924278 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.553C>T (p.Arg185Cys) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001326007] ChrX:100665263 [GRCh38]
ChrX:99920260 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.961+1G>A single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001345689] ChrX:100666934 [GRCh38]
ChrX:99921931 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.656C>G (p.Thr219Ser) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001341660] ChrX:100665366 [GRCh38]
ChrX:99920363 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001322706] ChrX:100665264 [GRCh38]
ChrX:99920261 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_014467.3(SRPX2):c.112_163+10dup duplication Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001338159] ChrX:100650812..100650813 [GRCh38]
ChrX:99905809..99905810 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_014467.3(SRPX2):c.57G>A (p.Pro19=) single nucleotide variant Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked [RCV001299082] ChrX:100646379 [GRCh38]
ChrX:99901376 [GRCh37]
ChrX:Xq22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30668 AgrOrtholog
COSMIC SRPX2 COSMIC
Ensembl Genes ENSG00000102359 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491188 UniProtKB/TrEMBL
  ENSP00000492168 UniProtKB/TrEMBL
  ENSP00000492571 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373004 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638458 UniProtKB/TrEMBL
  ENST00000640282 UniProtKB/TrEMBL
  ENST00000640889 UniProtKB/TrEMBL
GTEx ENSG00000102359 GTEx
HGNC ID HGNC:30668 ENTREZGENE
Human Proteome Map SRPX2 Human Proteome Map
InterPro DUF4174 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRPX-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRPX2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27286 UniProtKB/Swiss-Prot
NCBI Gene 27286 ENTREZGENE
OMIM 300642 OMIM
  300643 OMIM
PANTHER PTHR46343 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46343:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4174 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134983994 PharmGKB
PROSITE HYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNZ6_HUMAN UniProtKB/TrEMBL
  A0A1W2PR88_HUMAN UniProtKB/TrEMBL
  A0A1W2PRB1_HUMAN UniProtKB/TrEMBL
  O60687 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KQT3 UniProtKB/Swiss-Prot
  Q8WW85 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 SRPX2  sushi repeat containing protein X-linked 2    sushi repeat containing protein, X-linked 2  Symbol and/or name change 5135510 APPROVED
2016-03-14 SRPX2  sushi repeat containing protein, X-linked 2    sushi-repeat containing protein, X-linked 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 SRPX2  sushi-repeat containing protein, X-linked 2  SRPX2  sushi-repeat containing protein, X-linked 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 SRPX2  sushi-repeat containing protein, X-linked 2  SRPX2  sushi-repeat-containing protein, X-linked 2  Symbol and/or name change 5135510 APPROVED