SYN1 (synapsin I) - Rat Genome Database

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Gene: SYN1 (synapsin I) Homo sapiens
Analyze
Symbol: SYN1
Name: synapsin I
RGD ID: 731422
HGNC Page HGNC
Description: Predicted to have protein kinase binding activity. Predicted to be involved in neurotransmitter secretion and synaptic vesicle cycle. Localizes to cytoskeleton. Implicated in X-linked epilepsy with variable learning disabilities and behavior disorders and non-syndromic X-linked intellectual disability 50. Biomarker of major depressive disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: brain protein 4.1; EPILX; mental retardation, X-linked 50; MRX50; SYN1a; SYN1b; synapsin 1; synapsin Ib; synapsin-1; SYNI
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 EnsemblX47,571,901 - 47,619,857 (-)EnsemblGRCh38hg38GRCh38
GRCh38X47,571,901 - 47,619,857 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,431,300 - 47,479,256 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,316,244 - 47,364,200 (-)NCBINCBI36hg18NCBI36
Build 34X47,188,586 - 47,235,511NCBI
CeleraX51,626,557 - 51,674,518 (-)NCBI
Cytogenetic MapXp11.3-p11.23NCBI
HuRefX45,143,520 - 45,192,091 (-)NCBIHuRef
CHM1_1X47,462,402 - 47,510,356 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4-aminopyridine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
aluminium sulfate (anhydrous)  (EXP)
ammonium chloride  (ISO)
Anacardic acid  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
Brodifacoum  (ISO)
butan-1-ol  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcium dichloride  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
citric acid  (ISO)
clofibrate  (ISO)
cocaine  (ISO)
cyfluthrin  (EXP)
cypermethrin  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dicrotophos  (EXP)
dopamine  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
fucoxanthin  (ISO)
gamma-tocopherol  (ISO)
genistein  (ISO)
glucose  (ISO)
glutathione  (EXP)
hispidulin  (ISO)
ionomycin  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
methylmercury chloride  (EXP)
midazolam  (ISO)
Mipafox  (EXP)
muscimol  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
nitric oxide  (ISO)
okadaic acid  (ISO)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium chloride  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (ISO)
succimer  (ISO)
testosterone  (ISO)
thyroxine  (ISO)
tocopherol  (ISO)
trichlorfon  (EXP)
triphenyl phosphate  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

References

Additional References at PubMed
PMID:1905878   PMID:1905928   PMID:2110562   PMID:2118519   PMID:2506642   PMID:3095840   PMID:3118371   PMID:8022809   PMID:8287627   PMID:8430330   PMID:8552632   PMID:8702879  
PMID:9395448   PMID:9415477   PMID:9463375   PMID:9645429   PMID:10099709   PMID:10358015   PMID:10386995   PMID:10571231   PMID:10578110   PMID:10725920   PMID:10899172   PMID:11431533  
PMID:11867766   PMID:12237306   PMID:12438562   PMID:12477932   PMID:14673601   PMID:14985377   PMID:15147519   PMID:15217342   PMID:15345747   PMID:15772651   PMID:15822905   PMID:15829507  
PMID:16141272   PMID:16169070   PMID:17893145   PMID:18029348   PMID:19086053   PMID:19301426   PMID:19913121   PMID:20628086   PMID:20700059   PMID:20921223   PMID:21441247   PMID:21563316  
PMID:21873635   PMID:22163275   PMID:22558309   PMID:22571925   PMID:22807112   PMID:22939629   PMID:23190742   PMID:23250796   PMID:23406870   PMID:23818987   PMID:24088370   PMID:24312498  
PMID:24327345   PMID:24591637   PMID:25640309   PMID:26186194   PMID:26204769   PMID:26496610   PMID:26823711   PMID:27515700   PMID:28514442   PMID:28533388   PMID:28973667   PMID:29671924  
PMID:31727880   PMID:32934297   PMID:33431828  


Genomics

Comparative Map Data
SYN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,571,901 - 47,619,857 (-)EnsemblGRCh38hg38GRCh38
GRCh38X47,571,901 - 47,619,857 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,431,300 - 47,479,256 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,316,244 - 47,364,200 (-)NCBINCBI36hg18NCBI36
Build 34X47,188,586 - 47,235,511NCBI
CeleraX51,626,557 - 51,674,518 (-)NCBI
Cytogenetic MapXp11.3-p11.23NCBI
HuRefX45,143,520 - 45,192,091 (-)NCBIHuRef
CHM1_1X47,462,402 - 47,510,356 (-)NCBICHM1_1
Syn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,726,750 - 20,787,157 (-)NCBIGRCm39mm39
GRCm39 EnsemblX20,726,750 - 20,787,243 (-)Ensembl
GRCm38X20,860,511 - 20,920,918 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,860,511 - 20,921,004 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X20,437,637 - 20,498,044 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X20,017,470 - 20,077,855 (-)NCBImm8
CeleraX18,991,650 - 19,054,780 (-)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.37NCBI
Syn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,172,208 - 1,227,400 (+)NCBI
Rnor_6.0 EnsemblX1,321,315 - 1,379,198 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,321,315 - 1,379,202 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,136,336 - 2,194,393 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,512,241 - 12,556,160 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X12,585,157 - 12,585,610 (-)NCBI
CeleraX1,741,094 - 1,795,235 (+)NCBICelera
Cytogenetic MapXq11NCBI
Syn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516460,198 - 521,484 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955516460,258 - 521,484 (+)NCBIChiLan1.0ChiLan1.0
SYN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,905,598 - 47,951,786 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X40,007,777 - 40,055,801 (-)NCBIMhudiblu_PPA_v0panPan3
SYN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,191,571 - 41,241,557 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,191,571 - 41,241,640 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,566,597 - 15,616,166 (-)NCBI
ROS_Cfam_1.0X41,325,757 - 41,375,351 (-)NCBI
UMICH_Zoey_3.1X41,313,364 - 41,362,911 (-)NCBI
UNSW_CanFamBas_1.0X41,301,640 - 41,351,196 (-)NCBI
UU_Cfam_GSD_1.0X41,394,278 - 41,443,858 (-)NCBI
Syn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,494,248 - 33,546,336 (-)NCBI
SpeTri2.0NW_00493650213,334,998 - 13,387,082 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,090,245 - 42,142,224 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,090,245 - 42,142,254 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,336,634 - 47,388,655 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231893
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,748,994 - 44,797,053 (-)NCBI
ChlSab1.1 EnsemblX44,750,046 - 44,797,009 (-)Ensembl
Syn1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624978110,640 - 179,910 (-)NCBI

Position Markers
STS-M13829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,430,820 - 47,430,988UniSTSGRCh37
Build 36X47,315,764 - 47,315,932RGDNCBI36
CeleraX51,626,077 - 51,626,245RGD
Cytogenetic MapXp11.4-p11.2UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX45,143,040 - 45,143,208UniSTS
GeneMap99-GB4 RH MapX139.21UniSTS
NCBI RH MapX268.1UniSTS
STS-AA001911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,445,999 - 47,446,181UniSTSGRCh37
Build 36X47,330,943 - 47,331,125RGDNCBI36
CeleraX51,641,256 - 51,641,438RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,158,441 - 45,158,623UniSTS
GeneMap99-GB4 RH MapX135.36UniSTS
RH93525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,431,415 - 47,431,576UniSTSGRCh37
Build 36X47,316,359 - 47,316,520RGDNCBI36
CeleraX51,626,672 - 51,626,833RGD
Cytogenetic MapXp11.4-p11.2UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX45,143,635 - 45,143,796UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
RH79877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,431,379 - 47,431,587UniSTSGRCh37
Build 36X47,316,323 - 47,316,531RGDNCBI36
CeleraX51,626,636 - 51,626,844RGD
Cytogenetic MapXp11.4-p11.2UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX45,143,599 - 45,143,807UniSTS
GeneMap99-GB4 RH MapX140.87UniSTS
GDB:192509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,446,080 - 47,446,186UniSTSGRCh37
Build 36X47,331,024 - 47,331,130RGDNCBI36
CeleraX51,641,337 - 51,641,443RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,158,522 - 45,158,628UniSTS
STS-M58378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,432,122 - 47,432,250UniSTSGRCh37
Build 36X47,317,066 - 47,317,194RGDNCBI36
CeleraX51,627,379 - 51,627,507RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,144,342 - 45,144,470UniSTS
GeneMap99-GB4 RH MapX141.58UniSTS
WI-6972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,430,923 - 47,431,247UniSTSGRCh37
Build 36X47,315,867 - 47,316,191RGDNCBI36
CeleraX51,626,180 - 51,626,504RGD
Cytogenetic MapXp11.4-p11.2UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX45,143,143 - 45,143,467UniSTS
GeneMap99-GB4 RH MapX142.51UniSTS
Whitehead-RH MapX73.6UniSTS
DXS9873E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,466,482 - 47,466,606UniSTSGRCh37
Build 36X47,351,426 - 47,351,550RGDNCBI36
CeleraX51,661,737 - 51,661,861RGD
HuRefX45,179,078 - 45,179,202UniSTS
DXS9875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,460,865 - 47,460,988UniSTSGRCh37
Build 36X47,345,809 - 47,345,932RGDNCBI36
CeleraX51,656,119 - 51,656,242RGD
HuRefX45,173,544 - 45,173,667UniSTS
SGC30176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,431,176 - 47,431,302UniSTSGRCh37
Build 36X47,316,120 - 47,316,246RGDNCBI36
CeleraX51,626,433 - 51,626,559RGD
Cytogenetic MapXp11.4-p11.2UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX45,143,396 - 45,143,522UniSTS
GeneMap99-GB4 RH MapX140.98UniSTS
Whitehead-RH MapX73.8UniSTS
NCBI RH MapX198.6UniSTS
STS-L24038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,432,375 - 47,432,570UniSTSGRCh37
Build 36X47,317,319 - 47,317,514RGDNCBI36
CeleraX51,627,632 - 51,627,827RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,144,595 - 45,144,790UniSTS
GeneMap99-GB4 RH MapX141.19UniSTS
NCBI RH MapX198.6UniSTS
AL023622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,459,405 - 47,459,512UniSTSGRCh37
Build 36X47,344,349 - 47,344,456RGDNCBI36
CeleraX51,654,659 - 51,654,766RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,172,084 - 45,172,191UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1902
Count of miRNA genes:785
Interacting mature miRNAs:854
Transcripts:ENST00000295987, ENST00000340666
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 24 50 304 12 40 12 119 26 2815 6 46 84 1 23 7
Low 2143 2660 951 387 1289 241 3414 1620 897 271 1295 1184 150 1 1003 2248 1
Below cutoff 218 268 459 216 528 204 812 541 19 119 95 306 21 178 532 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000295987   ⟹   ENSP00000295987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,571,901 - 47,619,857 (-)Ensembl
RefSeq Acc Id: ENST00000340666   ⟹   ENSP00000343206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,571,901 - 47,619,857 (-)Ensembl
RefSeq Acc Id: ENST00000638337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,604,710 - 47,607,014 (-)Ensembl
RefSeq Acc Id: ENST00000639776   ⟹   ENSP00000492521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,589,955 - 47,619,387 (-)Ensembl
RefSeq Acc Id: ENST00000640721   ⟹   ENSP00000492857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,572,307 - 47,574,757 (-)Ensembl
RefSeq Acc Id: NM_006950   ⟹   NP_008881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,571,901 - 47,619,857 (-)NCBI
GRCh37X47,431,300 - 47,479,256 (-)ENTREZGENE
Build 36X47,316,244 - 47,364,200 (-)NCBI Archive
HuRefX45,143,520 - 45,192,091 (-)ENTREZGENE
CHM1_1X47,462,402 - 47,510,356 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133499   ⟹   NP_598006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,571,901 - 47,619,857 (-)NCBI
GRCh37X47,431,300 - 47,479,256 (-)ENTREZGENE
Build 36X47,316,244 - 47,364,200 (-)NCBI Archive
HuRefX45,143,520 - 45,192,091 (-)ENTREZGENE
CHM1_1X47,462,402 - 47,510,356 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_598006   ⟸   NM_133499
- Peptide Label: isoform Ib
- UniProtKB: P17600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_008881   ⟸   NM_006950
- Peptide Label: isoform Ia
- UniProtKB: P17600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000295987   ⟸   ENST00000295987
RefSeq Acc Id: ENSP00000492521   ⟸   ENST00000639776
RefSeq Acc Id: ENSP00000492857   ⟸   ENST00000640721
RefSeq Acc Id: ENSP00000343206   ⟸   ENST00000340666
Protein Domains
Synapsin   Synapsin_C

Promoters
RGD ID:6813846
Promoter ID:HG_ACW:83835
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:SYN1.CAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,317,426 - 47,318,512 (-)MPROMDB
RGD ID:6809298
Promoter ID:HG_KWN:66618
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:NM_006950,   NM_133499
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,363,939 - 47,364,439 (-)MPROMDB
RGD ID:13605180
Promoter ID:EPDNEW_H28774
Type:initiation region
Name:SYN1_1
Description:synapsin I
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
GRCh38X47,619,857 - 47,619,917EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006950.3(SYN1):c.1629T>C (p.Pro543=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000548442] ChrX:47574355 [GRCh38]
ChrX:47433754 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.150T>G (p.Thr50=) single nucleotide variant not provided [RCV000559644] ChrX:47619579 [GRCh38]
ChrX:47478978 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.430G>A (p.Glu144Lys) single nucleotide variant not provided [RCV000521950] ChrX:47607146 [GRCh38]
ChrX:47466545 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1818G>A (p.Gln606=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000547369] ChrX:47574166 [GRCh38]
ChrX:47433565 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1944C>T (p.Ala648=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000548746] ChrX:47574040 [GRCh38]
ChrX:47433439 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.360C>A (p.Asp120Glu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000554775] ChrX:47619369 [GRCh38]
ChrX:47478768 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000542032] ChrX:47619379 [GRCh38]
ChrX:47478778 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.939C>T (p.Asp313=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000543956]|History of neurodevelopmental disorder [RCV000717595] ChrX:47576539 [GRCh38]
ChrX:47435938 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.756C>T (p.Tyr252=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000544890] ChrX:47604996 [GRCh38]
ChrX:47464395 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.47A>G (p.Asn16Ser) single nucleotide variant not provided [RCV000519132] ChrX:47619682 [GRCh38]
ChrX:47479081 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1369G>C (p.Ala457Pro) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000546942] ChrX:47574712 [GRCh38]
ChrX:47434111 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000010542] ChrX:47576222 [GRCh38]
ChrX:47435621 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000034815] ChrX:47574321 [GRCh38]
ChrX:47433720 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000034816] ChrX:47574336 [GRCh38]
ChrX:47433735 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000034817]|History of neurodevelopmental disorder [RCV000715955]|Mental retardation, X-linked 50 [RCV001352674]|not provided [RCV000515022]|not specified [RCV000174415] ChrX:47574285 [GRCh38]
ChrX:47433684 [GRCh37]
ChrX:Xp11.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 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_006950.3(SYN1):c.1107C>T (p.Ile369=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001085713]|History of neurodevelopmental disorder [RCV000715343]|not provided [RCV000415960]|not specified [RCV000186667] ChrX:47576182 [GRCh38]
ChrX:47435581 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006950.3(SYN1):c.510T>C (p.Asn170=) single nucleotide variant History of neurodevelopmental disorder [RCV000715263]|not provided [RCV000713562]|not specified [RCV000082513] ChrX:47606962 [GRCh38]
ChrX:47466361 [GRCh37]
ChrX:Xp11.23
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006950.3(SYN1):c.1621G>C (p.Gly541Arg) single nucleotide variant not provided [RCV000118424] ChrX:47574363 [GRCh38]
ChrX:47433762 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.838-8T>G single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001085132]|not provided [RCV000713563]|not specified [RCV000118425] ChrX:47576648 [GRCh38]
ChrX:47436047 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006950.3(SYN1):c.912C>T (p.Ala304=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001085822]|History of neurodevelopmental disorder [RCV000716489]|not provided [RCV000713564]|not specified [RCV000118426] ChrX:47576566 [GRCh38]
ChrX:47435965 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001654.4(ARAF):c.1034C>G (p.Ala345Gly) single nucleotide variant Malignant melanoma [RCV000063964] ChrX:47567390 [GRCh38]
ChrX:47426789 [GRCh37]
ChrX:47311733 [NCBI36]
ChrX:Xp11.3
not provided
NM_006950.3(SYN1):c.528-19C>T single nucleotide variant not specified [RCV000128347] ChrX:47605398 [GRCh38]
ChrX:47464797 [GRCh37]
ChrX:Xp11.23
benign
NM_006950.3(SYN1):c.980+14C>T single nucleotide variant not specified [RCV000128350] ChrX:47576484 [GRCh38]
ChrX:47435883 [GRCh37]
ChrX:Xp11.3
benign
NM_006950.3(SYN1):c.1055+12G>A single nucleotide variant not specified [RCV000128351] ChrX:47576320 [GRCh38]
ChrX:47435719 [GRCh37]
ChrX:Xp11.3
benign
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001082665]|not provided [RCV000727280]|not specified [RCV000128352] ChrX:47574415 [GRCh38]
ChrX:47433814 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000990807]|History of neurodevelopmental disorder [RCV000716736]|not provided [RCV000514698]|not specified [RCV000128353] ChrX:47619577 [GRCh38]
ChrX:47478976 [GRCh37]
ChrX:Xp11.23
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_133499.2(SYN1):c.1056-14_1056-8del deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001081470]|not provided [RCV000713560]|not specified [RCV000180700] ChrX:47576241..47576247 [GRCh38]
ChrX:47435640..47435646 [GRCh37]
ChrX:Xp11.3
benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.316G>T (p.Ala106Ser) single nucleotide variant not provided [RCV000173563] ChrX:47619413 [GRCh38]
ChrX:47478812 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.138C>G (p.Pro46=) single nucleotide variant not provided [RCV000173564] ChrX:47619591 [GRCh38]
ChrX:47478990 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1739C>T (p.Ala580Val) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001294427] ChrX:47574245 [GRCh38]
ChrX:47433644 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_006950.3(SYN1):c.1614A>G (p.Gly538=) single nucleotide variant not provided [RCV000174416] ChrX:47574370 [GRCh38]
ChrX:47433769 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640884]|History of neurodevelopmental disorder [RCV000716202]|not provided [RCV000724564] ChrX:47574369 [GRCh38]
ChrX:47433768 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001085678]|not provided [RCV000724389] ChrX:47574756 [GRCh38]
ChrX:47434155 [GRCh37]
ChrX:Xp11.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 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 Xp11.3-11.23(chrX:47437831-47845763)x2 copy number gain See cases [RCV000143111] ChrX:47437831..47845763 [GRCh38]
ChrX:47297230..47705162 [GRCh37]
ChrX:47182174..47590106 [NCBI36]
ChrX:Xp11.3-11.23
uncertain significance
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
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_006950.3(SYN1):c.506G>A (p.Arg169Gln) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000815008]|not specified [RCV000194726] ChrX:47606966 [GRCh38]
ChrX:47466365 [GRCh37]
ChrX:Xp11.23
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_006950.3(SYN1):c.1056-10_1056-8del deletion not specified [RCV000192531] ChrX:47576241..47576243 [GRCh38]
ChrX:47435640..47435642 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.508A>T (p.Asn170Tyr) single nucleotide variant not specified [RCV000192684] ChrX:47606964 [GRCh38]
ChrX:47466363 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.838-3C>T single nucleotide variant not specified [RCV000194101] ChrX:47576643 [GRCh38]
ChrX:47436042 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001214487]|not specified [RCV000194641] ChrX:47574570 [GRCh38]
ChrX:47433969 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1470_1472GCA[1] (p.Gln491del) microsatellite Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000862120]|not specified [RCV000189664] ChrX:47574509..47574511 [GRCh38]
ChrX:47433908..47433910 [GRCh37]
ChrX:Xp11.3
likely benign|uncertain significance
NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr) single nucleotide variant not provided [RCV000189655] ChrX:47574736 [GRCh38]
ChrX:47434135 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1543C>G (p.Pro515Ala) single nucleotide variant not provided [RCV000189658] ChrX:47574441 [GRCh38]
ChrX:47433840 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1665G>T (p.Gln555His) single nucleotide variant not provided [RCV000189660] ChrX:47574319 [GRCh38]
ChrX:47433718 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000794382]|not provided [RCV000189661] ChrX:47574041 [GRCh38]
ChrX:47433440 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_133499.2(SYN1):c.668G>C (p.Cys223Ser) single nucleotide variant not specified [RCV000189666] ChrX:47605239 [GRCh38]
ChrX:47464638 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_133499.2(SYN1):c.722C>T (p.Thr241Ile) single nucleotide variant not specified [RCV000189667] ChrX:47605030 [GRCh38]
ChrX:47464429 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.426A>G (p.Lys142=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000530808]|History of neurodevelopmental disorder [RCV000715821]|not specified [RCV000189642] ChrX:47607150 [GRCh38]
ChrX:47466549 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000552417]|not specified [RCV000189646] ChrX:47576179 [GRCh38]
ChrX:47435578 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006950.3(SYN1):c.1968G>A (p.Pro656=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000525029]|History of neurodevelopmental disorder [RCV000719730]|not specified [RCV000189647] ChrX:47574016 [GRCh38]
ChrX:47433415 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_006950.3(SYN1):c.189G>T (p.Pro63=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000540818]|not specified [RCV000189648] ChrX:47619540 [GRCh38]
ChrX:47478939 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000694426]|History of neurodevelopmental disorder [RCV000719140]|not specified [RCV000189649] ChrX:47606946 [GRCh38]
ChrX:47466345 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_006950.3(SYN1):c.844G>A (p.Val282Ile) single nucleotide variant not provided [RCV000189650] ChrX:47576634 [GRCh38]
ChrX:47436033 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1025C>T (p.Ala342Val) single nucleotide variant not provided [RCV000189651] ChrX:47576362 [GRCh38]
ChrX:47435761 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) single nucleotide variant not provided [RCV000189652] ChrX:47575169 [GRCh38]
ChrX:47434568 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000558124]|not provided [RCV000189653] ChrX:47575136 [GRCh38]
ChrX:47434535 [GRCh37]
ChrX:Xp11.3
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001323946]|not provided [RCV000189656] ChrX:47574709 [GRCh38]
ChrX:47434108 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_133499.2(SYN1):c.1448A>C (p.Gln483Pro) single nucleotide variant not specified [RCV000189657] ChrX:47574536 [GRCh38]
ChrX:47433935 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000766094]|not provided [RCV000189662] ChrX:47574023 [GRCh38]
ChrX:47433422 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser) single nucleotide variant not provided [RCV000189663] ChrX:47619365 [GRCh38]
ChrX:47478764 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.439G>A (p.Glu147Lys) single nucleotide variant not provided [RCV000189665] ChrX:47607033 [GRCh38]
ChrX:47466432 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000545724] ChrX:47575235 [GRCh38]
ChrX:47434634 [GRCh37]
ChrX:Xp11.3
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
NM_006950.3(SYN1):c.528-2A>T single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000555972] ChrX:47605381 [GRCh38]
ChrX:47464780 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
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_006950.3(SYN1):c.1183A>G (p.Ile395Val) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001231038]|not provided [RCV000514904]|not specified [RCV000238649] ChrX:47575250 [GRCh38]
ChrX:47434649 [GRCh37]
ChrX:Xp11.3
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
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) single nucleotide variant Inborn genetic diseases [RCV000623991] ChrX:47605272 [GRCh38]
ChrX:47464671 [GRCh37]
ChrX:Xp11.23
likely 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_006950.3(SYN1):c.883G>A (p.Val295Met) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640882]|not provided [RCV000489338] ChrX:47576595 [GRCh38]
ChrX:47435994 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.2026del (p.Ala676fs) deletion not provided [RCV000487970] ChrX:47572956 [GRCh38]
ChrX:47432355 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000707123]|Inborn genetic diseases [RCV000622748]|not provided [RCV000594619] ChrX:47619358 [GRCh38]
ChrX:47478757 [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
NM_006950.3(SYN1):c.528-5A>G single nucleotide variant not provided [RCV000488407] ChrX:47605384 [GRCh38]
ChrX:47464783 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.361G>T (p.Glu121Ter) single nucleotide variant not provided [RCV000521267] ChrX:47619368 [GRCh38]
ChrX:47478767 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006950.3(SYN1):c.377G>A (p.Trp126Ter) single nucleotide variant not provided [RCV000374571] ChrX:47619352 [GRCh38]
ChrX:47478751 [GRCh37]
ChrX:Xp11.23
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_006950.3(SYN1):c.377+15C>T single nucleotide variant not provided [RCV000597572] ChrX:47619337 [GRCh38]
ChrX:47478736 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1964C>T (p.Pro655Leu) single nucleotide variant not provided [RCV000591521] ChrX:47574020 [GRCh38]
ChrX:47433419 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.579A>G (p.Ala193=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000532274] ChrX:47605328 [GRCh38]
ChrX:47464727 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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_006950.3(SYN1):c.580C>T (p.Arg194Cys) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001343110]|not specified [RCV000427591] ChrX:47605327 [GRCh38]
ChrX:47464726 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_006950.3(SYN1):c.1026G>A (p.Ala342=) single nucleotide variant History of neurodevelopmental disorder [RCV000719129]|not specified [RCV000438229] ChrX:47576361 [GRCh38]
ChrX:47435760 [GRCh37]
ChrX:Xp11.3
benign|likely benign
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_006950.3(SYN1):c.981-19C>T single nucleotide variant not specified [RCV000420108] ChrX:47576425 [GRCh38]
ChrX:47435824 [GRCh37]
ChrX:Xp11.3
benign
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
NM_006950.3(SYN1):c.1056-11del deletion not specified [RCV000487328] ChrX:47576244 [GRCh38]
ChrX:47435643 [GRCh37]
ChrX:Xp11.3
likely benign
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
NM_006950.3(SYN1):c.817G>A (p.Ala273Thr) single nucleotide variant not specified [RCV000503524] ChrX:47577459 [GRCh38]
ChrX:47436858 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr) single nucleotide variant not specified [RCV000501441] ChrX:47574760 [GRCh38]
ChrX:47434159 [GRCh37]
ChrX:Xp11.3
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
NM_006950.3(SYN1):c.987G>A (p.Thr329=) single nucleotide variant not provided [RCV000900112]|not specified [RCV000499927] ChrX:47576400 [GRCh38]
ChrX:47435799 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1367C>G (p.Pro456Arg) single nucleotide variant not specified [RCV000499979] ChrX:47574714 [GRCh38]
ChrX:47434113 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_006950.3(SYN1):c.816C>T (p.His272=) single nucleotide variant not specified [RCV000500742] ChrX:47577460 [GRCh38]
ChrX:47436859 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.775-4C>T single nucleotide variant not specified [RCV000503070] ChrX:47577505 [GRCh38]
ChrX:47436904 [GRCh37]
ChrX:Xp11.3
uncertain significance
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 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000528083] ChrX:47619545 [GRCh38]
ChrX:47478944 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1137C>T (p.Asp379=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000532964] ChrX:47576152 [GRCh38]
ChrX:47435551 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000534455] ChrX:47574771 [GRCh38]
ChrX:47434170 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000538961] ChrX:47606999 [GRCh38]
ChrX:47466398 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1389A>C (p.Pro463=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640887] ChrX:47574692 [GRCh38]
ChrX:47434091 [GRCh37]
ChrX:Xp11.3
likely benign
NC_000023.10:g.(?_47432243)_(47479147_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640889] ChrX:47572844..47619748 [GRCh38]
ChrX:47432243..47479147 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
NM_006950.3(SYN1):c.1815C>T (p.Ser605=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640885] ChrX:47574169 [GRCh38]
ChrX:47433568 [GRCh37]
ChrX:Xp11.3
likely benign
NC_000023.10:g.(?_47464357)_(47479147_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640888] ChrX:47604958..47619748 [GRCh38]
ChrX:47464357..47479147 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1063C>T (p.Leu355=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000531773] ChrX:47576226 [GRCh38]
ChrX:47435625 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1701A>T (p.Thr567=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000534905] ChrX:47574283 [GRCh38]
ChrX:47433682 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000585882] ChrX:47619353 [GRCh38]
ChrX:47478752 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000590941] ChrX:47574544..47574545 [GRCh38]
ChrX:47433943..47433944 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006950.3(SYN1):c.1159-7C>T single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640886] ChrX:47575281 [GRCh38]
ChrX:47434680 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.1962del (p.Pro655fs) deletion not provided [RCV000659157] ChrX:47574022 [GRCh38]
ChrX:47433421 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_006950.3(SYN1):c.1322C>A (p.Ala441Asp) single nucleotide variant not provided [RCV000713561] ChrX:47574759 [GRCh38]
ChrX:47434158 [GRCh37]
ChrX:Xp11.3
uncertain significance
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
NM_006950.3(SYN1):c.213G>A (p.Ser71=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000686685] ChrX:47619516 [GRCh38]
ChrX:47478915 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000694668] ChrX:47574491 [GRCh38]
ChrX:47433890 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1310del (p.Pro437fs) deletion History of neurodevelopmental disorder [RCV000717584] ChrX:47574771 [GRCh38]
ChrX:47434170 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.581G>A (p.Arg194His) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000707307] ChrX:47605326 [GRCh38]
ChrX:47464725 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.11:g.(?_47572844)_(47605399_?)del deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000708072] ChrX:47572844..47605399 [GRCh38]
ChrX:47432243..47464798 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000692113] ChrX:47574718 [GRCh38]
ChrX:47434117 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.585C>T (p.Asn195=) single nucleotide variant History of neurodevelopmental disorder [RCV000716354] ChrX:47605322 [GRCh38]
ChrX:47464721 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000689986] ChrX:47574317 [GRCh38]
ChrX:47433716 [GRCh37]
ChrX:Xp11.3
uncertain significance
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_006950.3(SYN1):c.1076C>A (p.Thr359Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000718800] ChrX:47576213 [GRCh38]
ChrX:47435612 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1831C>T (p.Pro611Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720158] ChrX:47574153 [GRCh38]
ChrX:47433552 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001332865]|History of neurodevelopmental disorder [RCV000721050] ChrX:47574760 [GRCh38]
ChrX:47434159 [GRCh37]
ChrX:Xp11.3
likely benign|uncertain significance
NM_006950.3(SYN1):c.1169C>A (p.Ser390Tyr) single nucleotide variant History of neurodevelopmental disorder [RCV000719484] ChrX:47575264 [GRCh38]
ChrX:47434663 [GRCh37]
ChrX:Xp11.3
uncertain significance
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: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
NM_006950.3(SYN1):c.1306-9C>T single nucleotide variant not provided [RCV000978954] ChrX:47574784 [GRCh38]
ChrX:47434183 [GRCh37]
ChrX:Xp11.3
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_006950.3(SYN1):c.1270C>T (p.Arg424Trp) single nucleotide variant not provided [RCV000762630] ChrX:47575163 [GRCh38]
ChrX:47434562 [GRCh37]
ChrX:Xp11.3
uncertain significance
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 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.1122G>A (p.Ala374=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000866683] ChrX:47576167 [GRCh38]
ChrX:47435566 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1263G>A (p.Gln421=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000924796] ChrX:47575170 [GRCh38]
ChrX:47434569 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.789G>A (p.Thr263=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000867157] ChrX:47577487 [GRCh38]
ChrX:47436886 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.651T>C (p.His217=) single nucleotide variant not provided [RCV000942667] ChrX:47605256 [GRCh38]
ChrX:47464655 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001041413] ChrX:47576341 [GRCh38]
ChrX:47435740 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001061846] ChrX:47576139 [GRCh38]
ChrX:47435538 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.774+3G>A single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001037483] ChrX:47604975 [GRCh38]
ChrX:47464374 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000815768] ChrX:47574762 [GRCh38]
ChrX:47434161 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.678C>T (p.Pro226=) single nucleotide variant not provided [RCV000941355] ChrX:47605229 [GRCh38]
ChrX:47464628 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.1065G>A (p.Leu355=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000920545] ChrX:47576224 [GRCh38]
ChrX:47435623 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003254.3(TIMP1):c.574C>T (p.Arg192Trp) single nucleotide variant not provided [RCV000907154] ChrX:47586641 [GRCh38]
ChrX:47446040 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.84G>T (p.Pro28=) single nucleotide variant not provided [RCV000980672] ChrX:47619645 [GRCh38]
ChrX:47479044 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.438C>T (p.Ala146=) single nucleotide variant not provided [RCV000979700] ChrX:47607034 [GRCh38]
ChrX:47466433 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.1264C>A (p.Arg422=) single nucleotide variant not provided [RCV000928439] ChrX:47575169 [GRCh38]
ChrX:47434568 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1692C>T (p.Thr564=) single nucleotide variant not provided [RCV000951621] ChrX:47574292 [GRCh38]
ChrX:47433691 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1394-10T>G single nucleotide variant not provided [RCV000941213] ChrX:47574600 [GRCh38]
ChrX:47433999 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003254.3(TIMP1):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV000893497] ChrX:47586642 [GRCh38]
ChrX:47446041 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_006950.3(SYN1):c.944G>A (p.Arg315His) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000823340] ChrX:47576534 [GRCh38]
ChrX:47435933 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1159-4C>T single nucleotide variant not provided [RCV000979142] ChrX:47575278 [GRCh38]
ChrX:47434677 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000805246] ChrX:47574468 [GRCh38]
ChrX:47433867 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1549C>T (p.Gln517Ter) single nucleotide variant Global developmental delay [RCV001090185] ChrX:47574435 [GRCh38]
ChrX:47433834 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.288del (p.Ser96fs) deletion not provided [RCV001008339] ChrX:47619441 [GRCh38]
ChrX:47478840 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001202473] ChrX:47575233 [GRCh38]
ChrX:47434632 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001216974] ChrX:47575175 [GRCh38]
ChrX:47434574 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001223524] ChrX:47619413 [GRCh38]
ChrX:47478812 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001223733] ChrX:47619419 [GRCh38]
ChrX:47478818 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001204042] ChrX:47619650 [GRCh38]
ChrX:47479049 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.435+10G>A single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001195760] ChrX:47607131 [GRCh38]
ChrX:47466530 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001200882] ChrX:47576401 [GRCh38]
ChrX:47435800 [GRCh37]
ChrX:Xp11.3
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
NM_006950.3(SYN1):c.1982+10C>A single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001197826] ChrX:47573992 [GRCh38]
ChrX:47433391 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001201593] ChrX:47575175 [GRCh38]
ChrX:47434574 [GRCh37]
ChrX:Xp11.3
likely pathogenic|uncertain significance
NM_006950.3(SYN1):c.303C>T (p.Gly101=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000929790] ChrX:47619426 [GRCh38]
ChrX:47478825 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.436-4C>G single nucleotide variant not provided [RCV000896445] ChrX:47607040 [GRCh38]
ChrX:47466439 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.1227C>T (p.Leu409=) single nucleotide variant not provided [RCV000931167] ChrX:47575206 [GRCh38]
ChrX:47434605 [GRCh37]
ChrX:Xp11.3
likely benign
NM_006950.3(SYN1):c.249G>T (p.Ala83=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000862845] ChrX:47619480 [GRCh38]
ChrX:47478879 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001216465] ChrX:47574327 [GRCh38]
ChrX:47433726 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe) indel Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001214414] ChrX:47574335..47574336 [GRCh38]
ChrX:47433734..47433735 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001226639] ChrX:47574012 [GRCh38]
ChrX:47433411 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001243012] ChrX:47574413 [GRCh38]
ChrX:47433812 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.248_264del (p.Ala83fs) deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001227508] ChrX:47619465..47619481 [GRCh38]
ChrX:47478864..47478880 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001065273] ChrX:47605342 [GRCh38]
ChrX:47464741 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.314del (p.Gly105fs) deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001002794] ChrX:47619415 [GRCh38]
ChrX:47478814 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001069546] ChrX:47576374 [GRCh38]
ChrX:47435773 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.169G>A (p.Val57Ile) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001049251] ChrX:47619560 [GRCh38]
ChrX:47478959 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001056036] ChrX:47605051 [GRCh38]
ChrX:47464450 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.377+6C>G single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001235723] ChrX:47619346 [GRCh38]
ChrX:47478745 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1001del (p.Asn334fs) deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001027689] ChrX:47576386 [GRCh38]
ChrX:47435785 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001057824] ChrX:47574711 [GRCh38]
ChrX:47434110 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001235992] ChrX:47574416 [GRCh38]
ChrX:47433815 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.2028C>T (p.Ala676=) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001069078] ChrX:47572954 [GRCh38]
ChrX:47432353 [GRCh37]
ChrX:Xp11.3
likely pathogenic|uncertain significance
NM_006950.3(SYN1):c.685-3T>C single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001245870] ChrX:47605070 [GRCh38]
ChrX:47464469 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1159-6C>T single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001230709] ChrX:47575280 [GRCh38]
ChrX:47434679 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) single nucleotide variant Seizures [RCV001201164] ChrX:47574537 [GRCh38]
ChrX:47433936 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001214926] ChrX:47574718 [GRCh38]
ChrX:47434117 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001063045] ChrX:47619410 [GRCh38]
ChrX:47478809 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.378-1G>A single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001204925] ChrX:47607199 [GRCh38]
ChrX:47466598 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001252111] ChrX:47605293 [GRCh38]
ChrX:47464692 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006950.3(SYN1):c.1970A>C (p.His657Pro) single nucleotide variant Inborn genetic diseases [RCV001267394] ChrX:47574014 [GRCh38]
ChrX:47433413 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.338C>T (p.Ser113Phe) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001295268] ChrX:47619391 [GRCh38]
ChrX:47478790 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) single nucleotide variant Intellectual disability [RCV001260825] ChrX:47605007 [GRCh38]
ChrX:47464406 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006950.3(SYN1):c.2del (p.Met1fs) deletion not provided [RCV001268277] ChrX:47619727 [GRCh38]
ChrX:47479126 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.334G>T (p.Ala112Ser) single nucleotide variant not provided [RCV001288021] ChrX:47619395 [GRCh38]
ChrX:47478794 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.2112C>T (p.Ser704=) single nucleotide variant not provided [RCV001288020] ChrX:47572870 [GRCh38]
ChrX:47432269 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1184T>C (p.Ile395Thr) single nucleotide variant Intellectual disability [RCV001260860] ChrX:47575249 [GRCh38]
ChrX:47434648 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly) single nucleotide variant Intellectual disability [RCV001260870] ChrX:47619389 [GRCh38]
ChrX:47478788 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001319072] ChrX:47605272 [GRCh38]
ChrX:47464671 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.236C>G (p.Ser79Trp) single nucleotide variant Mental retardation, X-linked 50 [RCV001291935] ChrX:47619493 [GRCh38]
ChrX:47478892 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006950.3(SYN1):c.755A>T (p.Tyr252Phe) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001298165] ChrX:47604997 [GRCh38]
ChrX:47464396 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del) deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001337597] ChrX:47619603..47619617 [GRCh38]
ChrX:47479002..47479016 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001333496] ChrX:47619608 [GRCh38]
ChrX:47479007 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.2023C>T (p.Pro675Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001305048] ChrX:47572959 [GRCh38]
ChrX:47432358 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.953A>C (p.Lys318Thr) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001308142] ChrX:47576525 [GRCh38]
ChrX:47435924 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.1820C>A (p.Ala607Glu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001294833] ChrX:47574164 [GRCh38]
ChrX:47433563 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1269_1270delinsTT (p.Gln423_Arg424delinsHisTrp) indel Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001294894] ChrX:47575163..47575164 [GRCh38]
ChrX:47434562..47434563 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.1855C>A (p.Gln619Lys) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001350039] ChrX:47574129 [GRCh38]
ChrX:47433528 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1820C>T (p.Ala607Val) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001298887] ChrX:47574164 [GRCh38]
ChrX:47433563 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006950.3(SYN1):c.592T>C (p.Tyr198His) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001321390] ChrX:47605315 [GRCh38]
ChrX:47464714 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.539C>T (p.Pro180Leu) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001323715] ChrX:47605368 [GRCh38]
ChrX:47464767 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser) single nucleotide variant Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001340373] ChrX:47574273 [GRCh38]
ChrX:47433672 [GRCh37]
ChrX:Xp11.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11494 AgrOrtholog
COSMIC SYN1 COSMIC
Ensembl Genes ENSG00000008056 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000295987 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343206 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000492521 UniProtKB/TrEMBL
  ENSP00000492857 UniProtKB/TrEMBL
Ensembl Transcript ENST00000295987 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000340666 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000639776 UniProtKB/TrEMBL
  ENST00000640721 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1490.20 UniProtKB/Swiss-Prot
GTEx ENSG00000008056 GTEx
HGNC ID HGNC:11494 ENTREZGENE
Human Proteome Map SYN1 Human Proteome Map
InterPro ATP_grasp_subdomain_1 UniProtKB/Swiss-Prot
  PreATP-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_ATP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_CS UniProtKB/Swiss-Prot
  Synapsin_P_site UniProtKB/Swiss-Prot
  Synapsin_pre-ATP-grasp_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6853 UniProtKB/Swiss-Prot
NCBI Gene 6853 ENTREZGENE
OMIM 300115 OMIM
  300491 OMIM
  313440 OMIM
PANTHER PTHR10841:SF24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Synapsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_N UniProtKB/Swiss-Prot
PharmGKB PA36276 PharmGKB
PRINTS SYNAPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SYNAPSIN_1 UniProtKB/Swiss-Prot
  SYNAPSIN_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PS00_HUMAN UniProtKB/TrEMBL
  A0A1W2PSE9_HUMAN UniProtKB/TrEMBL
  P17600 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B1AJQ1 UniProtKB/Swiss-Prot
  O75825 UniProtKB/Swiss-Prot
  Q5H9A9 UniProtKB/Swiss-Prot