SYP (synaptophysin) - Rat Genome Database

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Gene: SYP (synaptophysin) Homo sapiens
Analyze
Symbol: SYP
Name: synaptophysin
RGD ID: 737494
HGNC Page HGNC
Description: Exhibits cholesterol binding activity. Predicted to be involved in endocytosis; regulation of neuronal synaptic plasticity; and regulation of opioid receptor signaling pathway. Localizes to neuron projection. Implicated in non-syndromic X-linked intellectual disability 96. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: major synaptic vesicle protein P38; MRX96; MRXSYP
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 EnsemblX49,187,804 - 49,200,259 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX49,187,815 - 49,200,199 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,187,815 - 49,200,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,044,268 - 49,056,652 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,931,209 - 48,943,605 (-)NCBINCBI36hg18NCBI36
Build 34X48,800,635 - 48,813,032NCBI
CeleraX52,607,708 - 52,620,104 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,701,336 - 46,713,608 (-)NCBIHuRef
CHM1_1X49,076,586 - 49,088,982 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-amphetamine  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-(1,4-diazepane-1-sulfonyl)isoquinoline  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
abacavir  (EXP)
acetic acid  (ISO)
acrylamide  (ISO)
agomelatine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aluminium sulfate (anhydrous)  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
atorvastatin calcium  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromochloroacetic acid  (ISO)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
carmustine  (ISO)
CHIR 99021  (ISO)
chlorohydrocarbon  (EXP)
chloroquine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
citric acid  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
fasudil hydrochloride  (ISO)
finasteride  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
gamma-tocopherol  (ISO)
glucose  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lactacystin  (ISO)
lead diacetate  (EXP,ISO)
lead tetraacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
linuron  (ISO)
lipopolysaccharide  (EXP)
melatonin  (ISO)
methamphetamine  (EXP,ISO)
methylmercury chloride  (EXP,ISO)
Mipafox  (EXP)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
naphthalene  (EXP,ISO)
nicotinic acid  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
paraquat  (ISO)
parathion  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenytoin  (ISO)
physostigmine  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
Pyridostigmine bromide  (ISO)
pyrrolidine dithiocarbamate  (EXP)
resveratrol  (EXP,ISO)
scopolamine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium fluoride  (EXP,ISO)
streptozocin  (ISO)
styrene oxide  (ISO)
sulfur dioxide  (ISO)
sulindac  (ISO)
tadalafil  (ISO)
telmisartan  (ISO)
terbufos  (EXP)
thioacetamide  (ISO)
thyroxine  (ISO)
tocopherol  (ISO)
trichlorfon  (EXP)
trichostatin A  (ISO)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

Additional References at PubMed
PMID:1908157   PMID:1975480   PMID:2163183   PMID:7553862   PMID:8547634   PMID:8772779   PMID:8838578   PMID:9112016   PMID:9344658   PMID:9889259   PMID:9890893   PMID:9930883  
PMID:10541003   PMID:10595912   PMID:10620806   PMID:11032878   PMID:11426054   PMID:11472886   PMID:11508360   PMID:11786535   PMID:12077483   PMID:12097487   PMID:12107411   PMID:12137757  
PMID:12181340   PMID:12403815   PMID:12477932   PMID:12485399   PMID:12492469   PMID:12493563   PMID:12498786   PMID:12575533   PMID:12701886   PMID:12826904   PMID:14702039   PMID:15217342  
PMID:15489334   PMID:15694236   PMID:16082702   PMID:16721760   PMID:16807900   PMID:16894395   PMID:17005904   PMID:17207965   PMID:17331077   PMID:17500595   PMID:17724707   PMID:17916412  
PMID:18006193   PMID:18662323   PMID:18771509   PMID:19377476   PMID:19652998   PMID:19724850   PMID:21073671   PMID:21873635   PMID:22055401   PMID:22099865   PMID:22210727   PMID:22348818  
PMID:22449227   PMID:22843923   PMID:23022470   PMID:23242284   PMID:23292839   PMID:23418554   PMID:23726717   PMID:23763443   PMID:24927707   PMID:25410733   PMID:25613139   PMID:25643395  
PMID:25755825   PMID:26022451   PMID:26186194   PMID:26204769   PMID:26604067   PMID:26637429   PMID:26728129   PMID:28351413   PMID:28514442   PMID:28630050   PMID:28719469   PMID:28887151  
PMID:29289429   PMID:29997244   PMID:30059939   PMID:30585381   PMID:31352437   PMID:31732726   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
SYP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,187,804 - 49,200,259 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX49,187,815 - 49,200,199 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,187,815 - 49,200,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,044,268 - 49,056,652 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,931,209 - 48,943,605 (-)NCBINCBI36hg18NCBI36
Build 34X48,800,635 - 48,813,032NCBI
CeleraX52,607,708 - 52,620,104 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,701,336 - 46,713,608 (-)NCBIHuRef
CHM1_1X49,076,586 - 49,088,982 (-)NCBICHM1_1
Syp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,504,819 - 7,519,495 (+)NCBIGRCm39mm39
GRCm39 EnsemblX7,504,710 - 7,519,495 (+)Ensembl
GRCm38X7,638,580 - 7,653,256 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,638,471 - 7,653,256 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,215,706 - 7,230,382 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X6,795,670 - 6,810,210 (+)NCBImm8
CeleraX3,817,995 - 3,833,335 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.44NCBI
Syp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,849,444 - 14,864,553 (-)NCBI
Rnor_6.0 EnsemblX15,695,566 - 15,707,436 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,694,699 - 15,709,244 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,485,963 - 16,501,050 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,890,307 - 26,905,319 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,943,775 - 26,958,788 (-)NCBI
CeleraX14,932,808 - 14,947,852 (-)NCBICelera
Cytogenetic MapXq12NCBI
Syp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543675,294 - 689,686 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543675,294 - 689,579 (-)NCBIChiLan1.0ChiLan1.0
SYP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,340,021 - 49,352,420 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,340,021 - 49,352,420 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,487,538 - 41,500,039 (-)NCBIMhudiblu_PPA_v0panPan3
SYP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,288,071 - 42,301,802 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,288,148 - 42,299,487 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,666,206 - 16,678,233 (-)NCBI
ROS_Cfam_1.0X42,429,161 - 42,441,205 (-)NCBI
UMICH_Zoey_3.1X42,413,127 - 42,425,154 (-)NCBI
UNSW_CanFamBas_1.0X42,400,777 - 42,412,809 (-)NCBI
UU_Cfam_GSD_1.0X42,495,540 - 42,507,567 (-)NCBI
LOC101975550
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,821,818 - 34,835,592 (-)NCBI
SpeTri2.0NW_0049367211,062,206 - 1,075,935 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,232,195 - 43,246,682 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,232,190 - 43,246,764 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,080,132 - 48,094,682 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231965
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,287,610 - 46,299,926 (-)NCBI
ChlSab1.1 EnsemblX46,287,282 - 46,299,773 (-)Ensembl
Syp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893929,460 - 942,806 (-)NCBI

Position Markers
GDB:216846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,047,885 - 49,048,225UniSTSGRCh37
Build 36X48,934,829 - 48,935,169RGDNCBI36
CeleraX52,616,144 - 52,616,484RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,704,956 - 46,705,296UniSTS
DXS1007E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,054,204 - 49,054,302UniSTSGRCh37
Build 36X48,941,148 - 48,941,246RGDNCBI36
CeleraX52,610,067 - 52,610,165RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,711,275 - 46,711,373UniSTS
SYP__5369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,044,233 - 49,044,971UniSTSGRCh37
Build 36X48,931,177 - 48,931,915RGDNCBI36
CeleraX52,619,398 - 52,620,136RGD
HuRefX46,701,304 - 46,702,042UniSTS
DXS9881E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,047,892 - 49,048,012UniSTSGRCh37
Build 36X48,934,836 - 48,934,956RGDNCBI36
CeleraX52,616,357 - 52,616,477RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,704,963 - 46,705,083UniSTS
DXS9785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,044,358 - 49,044,501UniSTSGRCh37
Build 36X48,931,302 - 48,931,445RGDNCBI36
CeleraX52,619,868 - 52,620,011RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,701,429 - 46,701,572UniSTS
RH18083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,044,704 - 49,044,898UniSTSGRCh37
GRCh37X49,044,704 - 49,045,170UniSTSGRCh37
Build 36X48,931,648 - 48,931,842RGDNCBI36
CeleraX52,619,471 - 52,619,665RGD
CeleraX52,619,199 - 52,619,665UniSTS
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,701,775 - 46,701,969UniSTS
HuRefX46,701,775 - 46,702,241UniSTS
GeneMap99-GB4 RH MapX144.95UniSTS
NCBI RH MapX197.4UniSTS
G15886  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23-p11.22UniSTS
DXS1007E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23-p11.22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3542
Count of miRNA genes:1021
Interacting mature miRNAs:1279
Transcripts:ENST00000263233, ENST00000376303, ENST00000466635, ENST00000469389, ENST00000472598, ENST00000472737, ENST00000479808, ENST00000494396, ENST00000538567
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 2
Medium 311 64 385 4 43 4 126 29 3036 6 35 81 4 1 2 114
Low 2102 2624 1049 335 1542 177 3904 1806 690 375 1368 1478 169 1200 2362 3 2
Below cutoff 26 303 291 284 365 283 327 362 6 38 54 54 2 2 312 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000263233   ⟹   ENSP00000263233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,187,804 - 49,200,259 (-)Ensembl
RefSeq Acc Id: ENST00000376303   ⟹   ENSP00000365480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,189,253 - 49,200,193 (-)Ensembl
RefSeq Acc Id: ENST00000466635   ⟹   ENSP00000420774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,194,311 - 49,200,193 (-)Ensembl
RefSeq Acc Id: ENST00000469389   ⟹   ENSP00000418987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,194,191 - 49,200,193 (-)Ensembl
RefSeq Acc Id: ENST00000472598   ⟹   ENSP00000418387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,189,137 - 49,200,176 (-)Ensembl
RefSeq Acc Id: ENST00000472737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,197,377 - 49,200,195 (-)Ensembl
RefSeq Acc Id: ENST00000479808   ⟹   ENSP00000418169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,190,542 - 49,200,199 (-)Ensembl
RefSeq Acc Id: ENST00000494396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,197,017 - 49,200,195 (-)Ensembl
RefSeq Acc Id: NM_003179   ⟹   NP_003170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,187,815 - 49,200,193 (-)NCBI
GRCh37X49,044,263 - 49,056,661 (-)NCBI
Build 36X48,931,209 - 48,943,605 (-)NCBI Archive
HuRefX46,701,336 - 46,713,608 (-)ENTREZGENE
CHM1_1X49,076,586 - 49,088,982 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003170   ⟸   NM_003179
- UniProtKB: P08247 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000418169   ⟸   ENST00000479808
RefSeq Acc Id: ENSP00000420774   ⟸   ENST00000466635
RefSeq Acc Id: ENSP00000418987   ⟸   ENST00000469389
RefSeq Acc Id: ENSP00000365480   ⟸   ENST00000376303
RefSeq Acc Id: ENSP00000418387   ⟸   ENST00000472598
RefSeq Acc Id: ENSP00000263233   ⟸   ENST00000263233
Protein Domains
MARVEL

Promoters
RGD ID:6813847
Promoter ID:HG_ACW:83900
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SYP.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,936,881 - 48,937,381 (-)MPROMDB
RGD ID:6809303
Promoter ID:HG_KWN:66752
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376303,   OTTHUMT00000083626,   OTTHUMT00000083627,   UC004DNA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,943,491 - 48,943,991 (-)MPROMDB
RGD ID:13605298
Promoter ID:EPDNEW_H28833
Type:initiation region
Name:SYP_1
Description:synaptophysin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,200,193 - 49,200,253EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SYP, 1-BP INS, 274A insertion Mental retardation, X-linked 96 [RCV000010538] ChrX:Xp11.23-p11.22 pathogenic
SYP, 2-BP DEL/INS indel Mental retardation, X-linked 96 [RCV000010539] ChrX:Xp11.23-p11.22 pathogenic
SYP, 4-BP DEL, 829GACT deletion Mental retardation, X-linked 96 [RCV000010540] ChrX:Xp11.23-p11.22 pathogenic
NM_003179.2(SYP):c.649G>C (p.Gly217Arg) single nucleotide variant Mental retardation, X-linked 96 [RCV000010541] ChrX:49191730 [GRCh38]
ChrX:49048187 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_003179.2(SYP):c.869G>A (p.Gly290Glu) single nucleotide variant not specified [RCV000118572] ChrX:49191510 [GRCh38]
ChrX:49047967 [GRCh37]
ChrX:Xp11.23
likely 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
NM_003179.2(SYP):c.520G>A (p.Glu174Lys) single nucleotide variant Inborn genetic diseases [RCV000190692] ChrX:49193367 [GRCh38]
ChrX:49049824 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003179.2(SYP):c.612G>A (p.Ser204=) single nucleotide variant not provided [RCV000178874] ChrX:49193275 [GRCh38]
ChrX:49049732 [GRCh37]
ChrX:Xp11.23
conflicting interpretations of pathogenicity|uncertain significance
NM_003179.2(SYP):c.687C>T (p.Ala229=) single nucleotide variant not provided [RCV000713738] ChrX:49191692 [GRCh38]
ChrX:49048149 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity|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_003179.2(SYP):c.5T>A (p.Leu2Gln) single nucleotide variant not specified [RCV000194262] ChrX:49200182 [GRCh38]
ChrX:49056641 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003179.2(SYP):c.868G>T (p.Gly290Trp) single nucleotide variant not specified [RCV000238600] ChrX:49191511 [GRCh38]
ChrX:49047968 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003179.2(SYP):c.*814A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000270173] ChrX:49188473 [GRCh38]
ChrX:49044926 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.*237G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000321635] ChrX:49189050 [GRCh38]
ChrX:49045503 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003179.2(SYP):c.-8C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000392645] ChrX:49200194 [GRCh38]
ChrX:49056653 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003179.2(SYP):c.*969G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000369434] ChrX:49188318 [GRCh38]
ChrX:49044771 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.*1128C>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000273745] ChrX:49188159 [GRCh38]
ChrX:49044612 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.593C>T (p.Thr198Ile) single nucleotide variant not specified [RCV000341861] ChrX:49193294 [GRCh38]
ChrX:49049751 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.*1131G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000368625] ChrX:49188156 [GRCh38]
ChrX:49044609 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.312C>T (p.Ala104=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000279043] ChrX:49194277 [GRCh38]
ChrX:49050734 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.*727G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000325149] ChrX:49188560 [GRCh38]
ChrX:49045013 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.877G>A (p.Gly293Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000721022]|not provided [RCV000964094] ChrX:49191502 [GRCh38]
ChrX:49047959 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003179.2(SYP):c.*1T>A single nucleotide variant not provided [RCV000285476] ChrX:49191436 [GRCh38]
ChrX:49047893 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003179.2(SYP):c.*582G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000384417] ChrX:49188705 [GRCh38]
ChrX:49045158 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.*280C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000290068] ChrX:49189007 [GRCh38]
ChrX:49045460 [GRCh37]
ChrX:Xp11.23
benign
NM_003179.2(SYP):c.*1055C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000333446] ChrX:49188232 [GRCh38]
ChrX:49044685 [GRCh37]
ChrX:Xp11.23
benign
NM_003179.2(SYP):c.*1239G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000407639] ChrX:49188048 [GRCh38]
ChrX:49044501 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.777C>T (p.Pro259=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000341335] ChrX:49191602 [GRCh38]
ChrX:49048059 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003179.2(SYP):c.54G>A (p.Gln18=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000338719] ChrX:49199016 [GRCh38]
ChrX:49055475 [GRCh37]
ChrX:Xp11.23
likely benign
NM_003179.2(SYP):c.*1169C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000299851] ChrX:49188118 [GRCh38]
ChrX:49044571 [GRCh37]
ChrX:Xp11.23
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
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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003179.2(SYP):c.398G>A (p.Arg133Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000721082] ChrX:49194191 [GRCh38]
ChrX:49050648 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_003179.2(SYP):c.705G>C (p.Ala235=) single nucleotide variant not provided [RCV000929231] ChrX:49191674 [GRCh38]
ChrX:49048131 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003179.2(SYP):c.624C>T (p.Gly208=) single nucleotide variant not provided [RCV000899069] ChrX:49191755 [GRCh38]
ChrX:49048212 [GRCh37]
ChrX:Xp11.23
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
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 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003179.2(SYP):c.681C>A (p.Gly227=) single nucleotide variant not provided [RCV000919385] ChrX:49191698 [GRCh38]
ChrX:49048155 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_003179.3(SYP):c.829_832del (p.Asp277fs) deletion not provided [RCV001268749] ChrX:49191547..49191550 [GRCh38]
ChrX:49048004..49048007 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_003179.3(SYP):c.526A>G (p.Ile176Val) single nucleotide variant Mental retardation, X-linked 96 [RCV001332236] ChrX:49193361 [GRCh38]
ChrX:49049818 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003179.3(SYP):c.103G>A (p.Val35Ile) single nucleotide variant Mental retardation, X-linked 96 [RCV001262577] ChrX:49197839 [GRCh38]
ChrX:49054298 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11506 AgrOrtholog
COSMIC SYP COSMIC
Ensembl Genes ENSG00000102003 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263233 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365480 UniProtKB/TrEMBL
  ENSP00000418169 UniProtKB/Swiss-Prot
  ENSP00000418387 UniProtKB/TrEMBL
  ENSP00000418987 UniProtKB/TrEMBL
  ENSP00000420774 UniProtKB/TrEMBL
Ensembl Transcript ENST00000263233 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376303 UniProtKB/TrEMBL
  ENST00000466635 UniProtKB/TrEMBL
  ENST00000469389 UniProtKB/TrEMBL
  ENST00000472598 UniProtKB/TrEMBL
  ENST00000479808 UniProtKB/Swiss-Prot
GTEx ENSG00000102003 GTEx
HGNC ID HGNC:11506 ENTREZGENE
Human Proteome Map SYP Human Proteome Map
InterPro Marvel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptophysin/porin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6855 UniProtKB/Swiss-Prot
NCBI Gene 6855 ENTREZGENE
OMIM 300802 OMIM
  313475 OMIM
PANTHER PTHR10306 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10306:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MARVEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36288 PharmGKB
PRINTS SYNAPTOPHYSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MARVEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F2Z3E1_HUMAN UniProtKB/TrEMBL
  G5E9A2_HUMAN UniProtKB/TrEMBL
  H7C4W3_HUMAN UniProtKB/TrEMBL
  P08247 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R7L6 UniProtKB/Swiss-Prot
  B7Z359 UniProtKB/Swiss-Prot
  Q6P2F7 UniProtKB/Swiss-Prot