RS1 (retinoschisin 1) - Rat Genome Database

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Gene: RS1 (retinoschisin 1) Homo sapiens
Analyze
Symbol: RS1
Name: retinoschisin 1
RGD ID: 1347162
HGNC Page HGNC
Description: Predicted to have phospholipid binding activity. Involved in protein homooligomerization and visual perception. Localizes to extracellular space and extrinsic component of plasma membrane. Implicated in X-linked juvenile retinoschisis 1 and retinoschisis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: retinoschisin; retinoschisis (X-linked, juvenile) 1; RS; X-linked juvenile retinoschisis protein; XLRS1
RGD Orthologs
Mouse
Rat
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 EnsemblX18,639,910 - 18,672,109 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX18,639,688 - 18,672,108 (-)EnsemblGRCh38hg38GRCh38
GRCh38X18,639,688 - 18,672,108 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,657,808 - 18,690,228 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,567,729 - 18,600,150 (-)NCBINCBI36hg18NCBI36
Build 34X18,417,466 - 18,449,886NCBI
CeleraX22,777,900 - 22,810,314 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,411,987 - 16,443,999 (-)NCBIHuRef
CHM1_1X18,688,889 - 18,721,309 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2032721   PMID:8889548   PMID:9760195   PMID:10079181   PMID:10234514   PMID:10450864   PMID:10533068   PMID:10915776   PMID:11983912   PMID:12055472   PMID:12107411   PMID:12383832  
PMID:12417531   PMID:12457918   PMID:12746437   PMID:12782284   PMID:12920343   PMID:12967815   PMID:14986011   PMID:15281981   PMID:15531314   PMID:15644328   PMID:15772651   PMID:16768192  
PMID:17031297   PMID:17093404   PMID:17172462   PMID:17286855   PMID:17295148   PMID:17296904   PMID:17515881   PMID:17615541   PMID:17631851   PMID:17804407   PMID:17852193   PMID:17987333  
PMID:18369700   PMID:18728755   PMID:18834580   PMID:18982040   PMID:19093009   PMID:19324861   PMID:19390641   PMID:19393523   PMID:19474399   PMID:19765263   PMID:19849666   PMID:20151283  
PMID:20301401   PMID:20569020   PMID:20801516   PMID:20806044   PMID:20809529   PMID:21196491   PMID:21701876   PMID:21738583   PMID:21873635   PMID:22039241   PMID:22110067   PMID:22171610  
PMID:22183371   PMID:22292953   PMID:23288992   PMID:23453514   PMID:23847049   PMID:24227916   PMID:24505212   PMID:24529551   PMID:25054456   PMID:25168411   PMID:25799783   PMID:25894957  
PMID:26043410   PMID:27390514   PMID:27798099   PMID:28574807   PMID:28615319   PMID:29851975   PMID:29902095   PMID:30419843   PMID:30608181   PMID:30630865   PMID:31006083   PMID:32050117  
PMID:32124668  


Genomics

Comparative Map Data
RS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX18,639,910 - 18,672,109 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX18,639,688 - 18,672,108 (-)EnsemblGRCh38hg38GRCh38
GRCh38X18,639,688 - 18,672,108 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,657,808 - 18,690,228 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,567,729 - 18,600,150 (-)NCBINCBI36hg18NCBI36
Build 34X18,417,466 - 18,449,886NCBI
CeleraX22,777,900 - 22,810,314 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,411,987 - 16,443,999 (-)NCBIHuRef
CHM1_1X18,688,889 - 18,721,309 (-)NCBICHM1_1
Rs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X159,548,815 - 159,584,800 (+)NCBIGRCm39mm39
GRCm39 EnsemblX159,551,009 - 159,582,659 (+)Ensembl
GRCm38X160,765,819 - 160,799,663 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX160,768,013 - 160,799,663 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X157,205,945 - 157,237,595 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X156,112,118 - 156,143,768 (+)NCBImm8
CeleraX144,007,814 - 144,039,864 (+)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
Rs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X33,963,657 - 33,992,115 (-)NCBI
Rnor_6.0 EnsemblX35,749,957 - 35,777,243 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X35,749,957 - 35,777,243 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X36,077,773 - 36,106,448 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,242,654 - 55,266,251 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX34,650,786 - 34,679,172 (-)NCBICelera
Cytogenetic MapXq14NCBI
RS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X18,624,687 - 18,657,315 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX18,624,687 - 18,657,315 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X11,259,222 - 11,282,289 (-)NCBIMhudiblu_PPA_v0panPan3
RS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X14,727,016 - 14,749,674 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX14,727,062 - 14,749,492 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X14,692,941 - 14,703,063 (-)NCBI
UMICH_Zoey_3.1X14,751,342 - 14,764,123 (-)NCBI
UNSW_CanFamBas_1.0X14,744,546 - 14,757,322 (-)NCBI
UU_Cfam_GSD_1.0X14,808,349 - 14,821,138 (-)NCBI
Rs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X7,795,248 - 7,824,783 (-)NCBI
SpeTri2.0NW_004936844284,938 - 314,524 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,084,043 - 15,108,937 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X15,080,972 - 15,099,426 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,293,478 - 16,317,820 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,089,382 - 17,105,145 (-)NCBI
ChlSab1.1 EnsemblX17,089,598 - 17,118,447 (-)Ensembl
Rs1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248293,485,635 - 3,498,431 (-)NCBI

Position Markers
DXS7176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,687,717 - 18,687,940UniSTSGRCh37
Build 36X18,597,638 - 18,597,861RGDNCBI36
CeleraX22,807,808 - 22,808,031RGD
Cytogenetic MapXp22.13UniSTS
HuRefX16,441,493 - 16,441,716UniSTS
DXS6760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,672,117 - 18,672,260UniSTSGRCh37
Build 36X18,582,038 - 18,582,181RGDNCBI36
CeleraX22,792,209 - 22,792,352RGD
Cytogenetic MapXp22.13UniSTS
HuRefX16,425,791 - 16,425,934UniSTS
REN39908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,249,118 - 54,249,357UniSTSGRCh37
GRCh37X18,674,303 - 18,675,471UniSTSGRCh37
Build 361453,318,868 - 53,319,107RGDNCBI36
CeleraX22,794,393 - 22,795,561UniSTS
Celera1434,298,830 - 34,299,069RGD
Cytogenetic MapXp22.13UniSTS
HuRef1434,412,246 - 34,412,485UniSTS
HuRefX16,428,011 - 16,429,187UniSTS
RH11240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,658,057 - 18,658,219UniSTSGRCh37
Build 36X18,567,978 - 18,568,140RGDNCBI36
CeleraX22,778,149 - 22,778,311RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22UniSTS
HuRefX16,412,236 - 16,412,398UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
SHGC-32426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,658,158 - 18,658,307UniSTSGRCh37
Build 36X18,568,079 - 18,568,228RGDNCBI36
CeleraX22,778,250 - 22,778,399RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22UniSTS
HuRefX16,412,337 - 16,412,486UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1058
Count of miRNA genes:661
Interacting mature miRNAs:757
Transcripts:ENST00000379984, ENST00000476595
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 1 3 1 2 1 1
Low 2 195 2 11 2 2 1 1588 21 31 760 1
Below cutoff 1961 2377 1158 296 1072 165 3241 1517 1994 273 1146 616 131 849 2156 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000379984   ⟹   ENSP00000369320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,639,688 - 18,672,108 (-)Ensembl
RefSeq Acc Id: ENST00000476595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,641,924 - 18,650,537 (-)Ensembl
RefSeq Acc Id: NM_000330   ⟹   NP_000321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,639,688 - 18,672,108 (-)NCBI
GRCh37X18,657,808 - 18,690,223 (-)ENTREZGENE
Build 36X18,567,729 - 18,600,150 (-)NCBI Archive
HuRefX16,411,987 - 16,443,999 (-)ENTREZGENE
CHM1_1X18,688,889 - 18,721,309 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000321   ⟸   NM_000330
- Peptide Label: precursor
- UniProtKB: O15537 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000369320   ⟸   ENST00000379984
Protein Domains
F5/8 type C

Promoters
RGD ID:13604870
Promoter ID:EPDNEW_H28618
Type:multiple initiation site
Name:RS1_1
Description:retinoschisin 1
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
GRCh38X18,672,108 - 18,672,168EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
RS1, 4-BP INS insertion Juvenile retinoschisis [RCV000010572] ChrX:Xp22.2-p22.1 pathogenic
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000556184] ChrX:18646009 [GRCh38]
ChrX:18664129 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2797+1190_2797+1206delinsACTCTAACCCGGTCAGGGGA indel not provided [RCV000521991] ChrX:18647280..18647296 [GRCh38]
ChrX:18665400..18665416 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.3(RS1):c.286T>C (p.Trp96Arg) single nucleotide variant Juvenile retinoschisis [RCV000010564]|Retinal dystrophy [RCV001074398]|not provided [RCV000085262] ChrX:18647231 [GRCh38]
ChrX:18665351 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) single nucleotide variant Juvenile retinoschisis [RCV000010565]|Retinal dystrophy [RCV000210291]|not provided [RCV000085268] ChrX:18647213 [GRCh38]
ChrX:18665333 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.214G>A (p.Glu72Lys) single nucleotide variant Juvenile retinoschisis [RCV000010566]|Retinal dystrophy [RCV001075634]|not provided [RCV000085249] ChrX:18647303 [GRCh38]
ChrX:18665423 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.216G>C (p.Glu72Asp) single nucleotide variant Juvenile retinoschisis [RCV000010567]|not provided [RCV000085251] ChrX:18647301 [GRCh38]
ChrX:18665421 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.221G>T (p.Gly74Val) single nucleotide variant Juvenile retinoschisis [RCV000010568]|not provided [RCV000085254] ChrX:18647296 [GRCh38]
ChrX:18665416 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.325G>C (p.Gly109Arg) single nucleotide variant Juvenile retinoschisis [RCV000010569]|not provided [RCV000085274] ChrX:18647192 [GRCh38]
ChrX:18665312 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.38T>C (p.Leu13Pro) single nucleotide variant Juvenile retinoschisis [RCV000010570]|not provided [RCV000085290] ChrX:18672031 [GRCh38]
ChrX:18690151 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_003159.2(CDKL5):c.2714-3995A>G single nucleotide variant Juvenile retinoschisis [RCV000010571] ChrX:18642012 [GRCh38]
ChrX:18660132 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.3(RS1):c.608C>T (p.Pro203Leu) single nucleotide variant Juvenile retinoschisis [RCV000010573]|Retinal dystrophy [RCV001074001]|Retinoschisis [RCV001003214]|not provided [RCV000085344] ChrX:18642071 [GRCh38]
ChrX:18660191 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.305G>A (p.Arg102Gln) single nucleotide variant Juvenile retinoschisis [RCV000010574]|Retinal dystrophy [RCV001073575]|not provided [RCV000085269] ChrX:18647212 [GRCh38]
ChrX:18665332 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
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 Xp22.13-22.12(chrX:18660565-19743908)x1 copy number loss See cases [RCV000051384] ChrX:18660565..19743908 [GRCh38]
ChrX:18678685..19762026 [GRCh37]
ChrX:18588606..19671947 [NCBI36]
ChrX:Xp22.13-22.12
pathogenic|uncertain significance
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
NM_003159.2(CDKL5):c.*130_*131delinsAT indel not specified [RCV000169950] ChrX:18653674..18653675 [GRCh38]
ChrX:18671794..18671795 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.2928G>A (p.Pro976=) single nucleotide variant not specified [RCV000169963] ChrX:18650540 [GRCh38]
ChrX:18668660 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_003159.2(CDKL5):c.2714-47C>T single nucleotide variant Atypical Rett syndrome [RCV000170062] ChrX:18645960 [GRCh38]
ChrX:18664080 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.13(chrX:18643580-18838741)x2 copy number gain See cases [RCV000052365] ChrX:18643580..18838741 [GRCh38]
ChrX:18661700..18856859 [GRCh37]
ChrX:18571621..18766780 [NCBI36]
ChrX:Xp22.13
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp22.2-22.13(chrX:17167171-18804175)x1 copy number loss See cases [RCV000053060] ChrX:17167171..18804175 [GRCh38]
ChrX:17185294..18822293 [GRCh37]
ChrX:17095215..18732214 [NCBI36]
ChrX:Xp22.2-22.13
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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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_000330.3(RS1):c.554C>T (p.Thr185Met) single nucleotide variant not provided [RCV000085329] ChrX:18642125 [GRCh38]
ChrX:18660245 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.574C>A (p.Pro192Thr) single nucleotide variant not provided [RCV000085330] ChrX:18642105 [GRCh38]
ChrX:18660225 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.574C>T (p.Pro192Ser) single nucleotide variant Juvenile retinoschisis [RCV000169568]|Retinal dystrophy [RCV001075730]|not provided [RCV000085331] ChrX:18642105 [GRCh38]
ChrX:18660225 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.575C>G (p.Pro192Arg) single nucleotide variant not provided [RCV000085332] ChrX:18642104 [GRCh38]
ChrX:18660224 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.576_577insT (p.Pro193fs) insertion not provided [RCV000085333] ChrX:18642102..18642103 [GRCh38]
ChrX:18660222..18660223 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.577C>T (p.Pro193Ser) single nucleotide variant not provided [RCV000085334] ChrX:18642102 [GRCh38]
ChrX:18660222 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.578C>T (p.Pro193Leu) single nucleotide variant Retinoschisis [RCV001003215]|not provided [RCV000085335] ChrX:18642101 [GRCh38]
ChrX:18660221 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.579dup (p.Ile194fs) duplication Retinal dystrophy [RCV001075094]|not provided [RCV000085336] ChrX:18642099..18642100 [GRCh38]
ChrX:18660219..18660220 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.589C>T (p.Arg197Cys) single nucleotide variant Retinal dystrophy [RCV001073323]|not provided [RCV000085337] ChrX:18642090 [GRCh38]
ChrX:18660210 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.590G>A (p.Arg197His) single nucleotide variant Juvenile retinoschisis [RCV000411288]|not provided [RCV000085338] ChrX:18642089 [GRCh38]
ChrX:18660209 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.590G>C (p.Arg197Pro) single nucleotide variant not provided [RCV000085339] ChrX:18642089 [GRCh38]
ChrX:18660209 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.596T>C (p.Ile199Thr) single nucleotide variant Retinal dystrophy [RCV001075416]|not provided [RCV000085340] ChrX:18642083 [GRCh38]
ChrX:18660203 [GRCh37]
ChrX:Xp22.13
pathogenic|uncertain significance|not provided
NM_000330.3(RS1):c.598C>T (p.Arg200Cys) single nucleotide variant Juvenile retinoschisis [RCV001353041]|Retinal dystrophy [RCV001074817]|not provided [RCV000085341] ChrX:18642081 [GRCh38]
ChrX:18660201 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.599G>A (p.Arg200His) single nucleotide variant not provided [RCV000085342] ChrX:18642080 [GRCh38]
ChrX:18660200 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.606C>T (p.Ile202=) single nucleotide variant not provided [RCV000085343] ChrX:18642073 [GRCh38]
ChrX:18660193 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.618G>A (p.Trp206Ter) single nucleotide variant not provided [RCV000085345] ChrX:18642061 [GRCh38]
ChrX:18660181 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.621C>G (p.His207Gln) single nucleotide variant not provided [RCV000085346] ChrX:18642058 [GRCh38]
ChrX:18660178 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.625C>G (p.Arg209Gly) single nucleotide variant not provided [RCV000085347] ChrX:18642054 [GRCh38]
ChrX:18660174 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) single nucleotide variant Juvenile retinoschisis [RCV000410285]|not provided [RCV000085348] ChrX:18642054 [GRCh38]
ChrX:18660174 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.626G>A (p.Arg209His) single nucleotide variant not provided [RCV000085349] ChrX:18642053 [GRCh38]
ChrX:18660173 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.631G>A (p.Ala211Thr) single nucleotide variant not provided [RCV000085350] ChrX:18642048 [GRCh38]
ChrX:18660168 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.637C>T (p.Arg213Trp) single nucleotide variant not provided [RCV000085351] ChrX:18642042 [GRCh38]
ChrX:18660162 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.638G>A (p.Arg213Gln) single nucleotide variant not provided [RCV000085352] ChrX:18642041 [GRCh38]
ChrX:18660161 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.639del (p.Met214fs) deletion not provided [RCV000085353] ChrX:18642040 [GRCh38]
ChrX:18660160 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.643G>A (p.Glu215Lys) single nucleotide variant not provided [RCV000085354] ChrX:18642036 [GRCh38]
ChrX:18660156 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.643G>C (p.Glu215Gln) single nucleotide variant not provided [RCV000085355] ChrX:18642036 [GRCh38]
ChrX:18660156 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.647T>C (p.Leu216Pro) single nucleotide variant Retinal dystrophy [RCV001075517]|not provided [RCV000085356] ChrX:18642032 [GRCh38]
ChrX:18660152 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.655T>C (p.Cys219Arg) single nucleotide variant Retinal dystrophy [RCV001074513]|not provided [RCV000085357] ChrX:18642024 [GRCh38]
ChrX:18660144 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.655T>G (p.Cys219Gly) single nucleotide variant not provided [RCV000085358] ChrX:18642024 [GRCh38]
ChrX:18660144 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.4(RS1):c.658_*7del (p.Val220fs) deletion not provided [RCV000085359] ChrX:18641997..18642021 [GRCh38]
ChrX:18660117..18660141 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-3983del deletion not provided [RCV000085360] ChrX:18642024 [GRCh38]
ChrX:18660144 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.666G>C (p.Lys222Asn) single nucleotide variant not provided [RCV000085361] ChrX:18642013 [GRCh38]
ChrX:18660133 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.68C>A (p.Ser23Ter) single nucleotide variant not provided [RCV000085362] ChrX:18657650 [GRCh38]
ChrX:18675770 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.76G>T (p.Glu26Ter) single nucleotide variant not provided [RCV000085363] ChrX:18657642 [GRCh38]
ChrX:18675762 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.78+1G>A single nucleotide variant not provided [RCV000085364] ChrX:18657639 [GRCh38]
ChrX:18675759 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.79-2A>G single nucleotide variant not provided [RCV000085365] ChrX:18656760 [GRCh38]
ChrX:18674880 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.120C>A (p.Cys40Ter) single nucleotide variant not provided [RCV000085238] ChrX:18656717 [GRCh38]
ChrX:18674837 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.160_163dup (p.Thr55fs) duplication not provided [RCV000085239] ChrX:18656673..18656674 [GRCh38]
ChrX:18674793..18674794 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.163del (p.Thr55fs) deletion not provided [RCV000085240] ChrX:18656674 [GRCh38]
ChrX:18674794 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.175T>A (p.Cys59Ser) single nucleotide variant not provided [RCV000085241] ChrX:18656662 [GRCh38]
ChrX:18674782 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.184+1G>C single nucleotide variant not provided [RCV000085242] ChrX:18656652 [GRCh38]
ChrX:18674772 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.185-1G>C single nucleotide variant Juvenile retinoschisis [RCV001199775]|not provided [RCV000085243] ChrX:18647333 [GRCh38]
ChrX:18665453 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.194A>G (p.Tyr65Cys) single nucleotide variant not provided [RCV000085244] ChrX:18647323 [GRCh38]
ChrX:18665443 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2797+1233del deletion not provided [RCV000085245] ChrX:18647323 [GRCh38]
ChrX:18665443 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000085246] ChrX:18672068 [GRCh38]
ChrX:18690188 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.208G>C (p.Gly70Arg) single nucleotide variant not provided [RCV000085247] ChrX:18647309 [GRCh38]
ChrX:18665429 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.209G>A (p.Gly70Asp) single nucleotide variant Juvenile retinoschisis [RCV001352955]|not provided [RCV000085248] ChrX:18647308 [GRCh38]
ChrX:18665428 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.214G>C (p.Glu72Gln) single nucleotide variant not provided [RCV000085250] ChrX:18647303 [GRCh38]
ChrX:18665423 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.217T>C (p.Ser73Pro) single nucleotide variant not provided [RCV000085252] ChrX:18647300 [GRCh38]
ChrX:18665420 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2797+1208del deletion not provided [RCV000085253] ChrX:18647298 [GRCh38]
ChrX:18665418 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.223G>T (p.Glu75Ter) single nucleotide variant not provided [RCV000085255] ChrX:18647294 [GRCh38]
ChrX:18665414 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.242T>A (p.Ile81Asn) single nucleotide variant not provided [RCV000085256] ChrX:18647275 [GRCh38]
ChrX:18665395 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.253_255del (p.Asn85del) deletion Retinal dystrophy [RCV001075078]|not provided [RCV000085257] ChrX:18647262..18647264 [GRCh38]
ChrX:18665382..18665384 [GRCh37]
ChrX:Xp22.13
likely pathogenic|uncertain significance|not provided
NM_000330.3(RS1):c.262C>T (p.Gln88Ter) single nucleotide variant not provided [RCV000085258] ChrX:18647255 [GRCh38]
ChrX:18665375 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.266A>G (p.Tyr89Cys) single nucleotide variant Juvenile retinoschisis [RCV000410595]|not provided [RCV000085259] ChrX:18647251 [GRCh38]
ChrX:18665371 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.267T>A (p.Tyr89Ter) single nucleotide variant not provided [RCV000085260] ChrX:18647250 [GRCh38]
ChrX:18665370 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.276G>C (p.Trp92Cys) single nucleotide variant not provided [RCV000085261] ChrX:18647241 [GRCh38]
ChrX:18665361 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.288G>A (p.Trp96Ter) single nucleotide variant not provided [RCV000085263] ChrX:18647229 [GRCh38]
ChrX:18665349 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.293C>A (p.Ala98Glu) single nucleotide variant not provided [RCV000085264] ChrX:18647224 [GRCh38]
ChrX:18665344 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000085265] ChrX:18672067 [GRCh38]
ChrX:18690187 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.301G>C (p.Ala101Pro) single nucleotide variant not provided [RCV000085266] ChrX:18647216 [GRCh38]
ChrX:18665336 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2797+1127del deletion not provided [RCV000085267] ChrX:18647216 [GRCh38]
ChrX:18665336 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.308T>G (p.Leu103Arg) single nucleotide variant not provided [RCV000085270] ChrX:18647209 [GRCh38]
ChrX:18665329 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.312C>G (p.Asn104Lys) single nucleotide variant not provided [RCV000085271] ChrX:18647205 [GRCh38]
ChrX:18665325 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.318dup (p.Gly107fs) duplication Retinal dystrophy [RCV001073499]|not provided [RCV000085272] ChrX:18647198..18647199 [GRCh38]
ChrX:18665318..18665319 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.323T>G (p.Phe108Cys) single nucleotide variant not provided [RCV000085273] ChrX:18647194 [GRCh38]
ChrX:18665314 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.325G>T (p.Gly109Trp) single nucleotide variant not provided [RCV000085275] ChrX:18647192 [GRCh38]
ChrX:18665312 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.326+1G>A single nucleotide variant not provided [RCV000085276] ChrX:18647190 [GRCh38]
ChrX:18665310 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.326G>A (p.Gly109Glu) single nucleotide variant Retinoschisis [RCV001003220]|not provided [RCV000085277] ChrX:18647191 [GRCh38]
ChrX:18665311 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.329G>A (p.Cys110Tyr) single nucleotide variant Retinoschisis [RCV001003219]|not provided [RCV000085278] ChrX:18644623 [GRCh38]
ChrX:18662743 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.330T>A (p.Cys110Ter) single nucleotide variant not provided [RCV000085279] ChrX:18644622 [GRCh38]
ChrX:18662742 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.330T>C (p.Cys110=) single nucleotide variant not provided [RCV000085280]|not specified [RCV000242228] ChrX:18644622 [GRCh38]
ChrX:18662742 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_000330.3(RS1):c.336G>C (p.Trp112Cys) single nucleotide variant not provided [RCV000085281] ChrX:18644616 [GRCh38]
ChrX:18662736 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.336G>T (p.Trp112Cys) single nucleotide variant not provided [RCV000085282] ChrX:18644616 [GRCh38]
ChrX:18662736 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.337C>T (p.Leu113Phe) single nucleotide variant Retinal dystrophy [RCV001075784]|not provided [RCV000085283] ChrX:18644615 [GRCh38]
ChrX:18662735 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.33_36del (p.Leu11fs) deletion not provided [RCV000085284] ChrX:18672033..18672036 [GRCh38]
ChrX:18690153..18690156 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.349_350insT (p.Gln117fs) insertion not provided [RCV000085285] ChrX:18644602..18644603 [GRCh38]
ChrX:18662722..18662723 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.35T>A (p.Leu12His) single nucleotide variant Retinal dystrophy [RCV001075825]|not provided [RCV000085286] ChrX:18672034 [GRCh38]
ChrX:18690154 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.366G>C (p.Trp122Cys) single nucleotide variant not provided [RCV000085287] ChrX:18644586 [GRCh38]
ChrX:18662706 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1429_2714-1426del microsatellite not provided [RCV000085288] ChrX:18644574..18644577 [GRCh38]
ChrX:18662694..18662697 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.380T>C (p.Leu127Pro) single nucleotide variant not provided [RCV000085289] ChrX:18644572 [GRCh38]
ChrX:18662692 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1447_2714-1446del deletion not provided [RCV000085291] ChrX:18644559..18644560 [GRCh38]
ChrX:18662679..18662680 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.397A>T (p.Ile133Phe) single nucleotide variant not provided [RCV000085292] ChrX:18644555 [GRCh38]
ChrX:18662675 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.404G>T (p.Gly135Val) single nucleotide variant not provided [RCV000085293] ChrX:18644548 [GRCh38]
ChrX:18662668 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.407T>C (p.Ile136Thr) single nucleotide variant not provided [RCV000085294] ChrX:18644545 [GRCh38]
ChrX:18662665 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.412A>G (p.Thr138Ala) single nucleotide variant not provided [RCV000085295] ChrX:18644540 [GRCh38]
ChrX:18662660 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1471del deletion not provided [RCV000085296] ChrX:18644536 [GRCh38]
ChrX:18662656 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.418G>A (p.Gly140Arg) single nucleotide variant Retinoschisis [RCV001003218]|not provided [RCV000085297] ChrX:18644534 [GRCh38]
ChrX:18662654 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.419G>A (p.Gly140Glu) single nucleotide variant not provided [RCV000085298] ChrX:18644533 [GRCh38]
ChrX:18662653 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_000330.3(RS1):c.421C>G (p.Arg141Gly) single nucleotide variant not provided [RCV000085299] ChrX:18644531 [GRCh38]
ChrX:18662651 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.421C>T (p.Arg141Cys) single nucleotide variant Retinoschisis [RCV001003217]|not provided [RCV000085300] ChrX:18644531 [GRCh38]
ChrX:18662651 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.422G>A (p.Arg141His) single nucleotide variant Juvenile retinoschisis [RCV000411096]|not provided [RCV000085301] ChrX:18644530 [GRCh38]
ChrX:18662650 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.426T>C (p.Cys142=) single nucleotide variant not provided [RCV000085302] ChrX:18644526 [GRCh38]
ChrX:18662646 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.426T>G (p.Cys142Trp) single nucleotide variant not provided [RCV000085303] ChrX:18644526 [GRCh38]
ChrX:18662646 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1480_2714-1479del microsatellite not provided [RCV000085304] ChrX:18644525..18644526 [GRCh38]
ChrX:18662645..18662646 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.428A>T (p.Asp143Val) single nucleotide variant not provided [RCV000085305] ChrX:18644524 [GRCh38]
ChrX:18662644 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.436G>A (p.Glu146Lys) single nucleotide variant not provided [RCV000085306] ChrX:18644516 [GRCh38]
ChrX:18662636 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.438G>C (p.Glu146Asp) single nucleotide variant not provided [RCV000085307] ChrX:18644514 [GRCh38]
ChrX:18662634 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.460C>T (p.Gln154Ter) single nucleotide variant Retinal dystrophy [RCV001075410]|not provided [RCV000085308] ChrX:18644492 [GRCh38]
ChrX:18662612 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.464A>G (p.Tyr155Cys) single nucleotide variant not provided [RCV000085309] ChrX:18644488 [GRCh38]
ChrX:18662608 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.472G>A (p.Asp158Asn) single nucleotide variant Retinal dystrophy [RCV001074795]|not provided [RCV000085310] ChrX:18644480 [GRCh38]
ChrX:18662600 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_000330.3(RS1):c.489G>A (p.Trp163Ter) single nucleotide variant not provided [RCV000085311] ChrX:18644463 [GRCh38]
ChrX:18662583 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.489G>T (p.Trp163Cys) single nucleotide variant not provided [RCV000085312] ChrX:18644463 [GRCh38]
ChrX:18662583 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.499A>T (p.Lys167Ter) single nucleotide variant not provided [RCV000085313] ChrX:18644453 [GRCh38]
ChrX:18662573 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.501G>C (p.Lys167Asn) single nucleotide variant not provided [RCV000085314] ChrX:18644451 [GRCh38]
ChrX:18662571 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.52+1G>A single nucleotide variant not provided [RCV000085315] ChrX:18672016 [GRCh38]
ChrX:18690136 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.52+1G>T single nucleotide variant not provided [RCV000085316] ChrX:18672016 [GRCh38]
ChrX:18690136 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.52+2dup duplication not provided [RCV000085317] ChrX:18672014..18672015 [GRCh38]
ChrX:18690134..18690135 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.52+2T>C single nucleotide variant not provided [RCV000085318] ChrX:18672015 [GRCh38]
ChrX:18690135 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.52+5G>C single nucleotide variant Retinal dystrophy [RCV001075826]|not provided [RCV000085319] ChrX:18672012 [GRCh38]
ChrX:18690132 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_000330.3(RS1):c.522+1G>A single nucleotide variant Juvenile retinoschisis [RCV000411037]|Retinal dystrophy [RCV001075780]|not provided [RCV000085320] ChrX:18644429 [GRCh38]
ChrX:18662549 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.522+1G>T single nucleotide variant not provided [RCV000085321] ChrX:18644429 [GRCh38]
ChrX:18662549 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.522+5G>A single nucleotide variant not provided [RCV000085322] ChrX:18644425 [GRCh38]
ChrX:18662545 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.523-2A>G single nucleotide variant Retinoschisis [RCV001003216]|not provided [RCV000085323] ChrX:18642158 [GRCh38]
ChrX:18660278 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.533G>A (p.Gly178Asp) single nucleotide variant not provided [RCV000085324] ChrX:18642146 [GRCh38]
ChrX:18660266 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.535A>G (p.Asn179Asp) single nucleotide variant not provided [RCV000085325] ChrX:18642144 [GRCh38]
ChrX:18660264 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.53_77del (p.Ala18fs) deletion not provided [RCV000085326] ChrX:18657641..18657665 [GRCh38]
ChrX:18675761..18675785 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.544C>T (p.Arg182Cys) single nucleotide variant Juvenile retinoschisis [RCV001353044]|not provided [RCV000085327] ChrX:18642135 [GRCh38]
ChrX:18660255 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_003159.2(CDKL5):c.2714-3877_2714-3876dup duplication not provided [RCV000085328] ChrX:18642129..18642130 [GRCh38]
ChrX:18660249..18660250 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000473418]|History of neurodevelopmental disorder [RCV000715094]|West syndrome [RCV000659292]|not provided [RCV000224801]|not specified [RCV000080071] ChrX:18653446 [GRCh38]
ChrX:18671566 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000600588]|Early infantile epileptic encephalopathy 2 [RCV001084065]|History of neurodevelopmental disorder [RCV000717700]|not provided [RCV000233485]|not specified [RCV000080072] ChrX:18653454 [GRCh38]
ChrX:18671574 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000606547]|Early infantile epileptic encephalopathy 2 [RCV001080945]|History of neurodevelopmental disorder [RCV000717699]|not provided [RCV000226052]|not specified [RCV000080073] ChrX:18653535 [GRCh38]
ChrX:18671655 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000330.3(RS1):c.349C>T (p.Gln117Ter) single nucleotide variant Juvenile retinoschisis [RCV000058876] ChrX:18644603 [GRCh38]
ChrX:18662723 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.374T>G (p.Ile125Arg) single nucleotide variant not provided [RCV000058877] ChrX:18644578 [GRCh38]
ChrX:18662698 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.376G>C (p.Asp126His) single nucleotide variant not provided [RCV000058878] ChrX:18644576 [GRCh38]
ChrX:18662696 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2714-1487_2714-1440dup duplication not provided [RCV000058879] ChrX:18644517..18644518 [GRCh38]
ChrX:18662637..18662638 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.579del (p.Ile194fs) deletion Retinal dystrophy [RCV001075848]|not provided [RCV000058880] ChrX:18642100 [GRCh38]
ChrX:18660220 [GRCh37]
ChrX:Xp22.13
pathogenic|uncertain significance
NM_003159.2(CDKL5):c.2714-3913GAT[3] microsatellite not provided [RCV000058881] ChrX:18642093..18642094 [GRCh38]
ChrX:18660213..18660214 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2714-3991dup duplication not provided [RCV000058882] ChrX:18642015..18642016 [GRCh38]
ChrX:18660135..18660136 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2797+19A>G single nucleotide variant not specified [RCV000124226] ChrX:18646109 [GRCh38]
ChrX:18664229 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001085704]|History of neurodevelopmental disorder [RCV000717649]|not provided [RCV000711157]|not specified [RCV000124227] ChrX:18653445 [GRCh38]
ChrX:18671565 [GRCh37]
ChrX:Xp22.13
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_000330.4(RS1):c.185-3090_185-3089insT insertion Early infantile epileptic encephalopathy 2 [RCV001332234] ChrX:18650421..18650422 [GRCh38]
ChrX:18668541..18668542 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001089711]|not specified [RCV000133358] ChrX:18646060 [GRCh38]
ChrX:18664180 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000475262]|not specified [RCV000133359] ChrX:18650466 [GRCh38]
ChrX:18668586 [GRCh37]
ChrX:Xp22.13
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) single nucleotide variant Atypical Rett syndrome [RCV000133360]|Early infantile epileptic encephalopathy 2 [RCV001052390]|not specified [RCV000493452] ChrX:18650520 [GRCh38]
ChrX:18668640 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_003159.2(CDKL5):c.2984T>G (p.Phe995Cys) single nucleotide variant not specified [RCV000133361] ChrX:18653435 [GRCh38]
ChrX:18671555 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_003159.2(CDKL5):c.3003C>G (p.His1001Gln) single nucleotide variant not provided [RCV000133362] ChrX:18653454 [GRCh38]
ChrX:18671574 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.3012G>T (p.Arg1004Ser) single nucleotide variant not specified [RCV000169911] ChrX:18653463 [GRCh38]
ChrX:18671583 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance|not provided
NM_003159.2(CDKL5):c.3084G>C (p.Thr1028=) single nucleotide variant not provided [RCV000133364] ChrX:18653535 [GRCh38]
ChrX:18671655 [GRCh37]
ChrX:Xp22.13
not provided
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_003159.2(CDKL5):c.*15C>T single nucleotide variant not specified [RCV000133312] ChrX:18653559 [GRCh38]
ChrX:18671679 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000764871]|Early infantile epileptic encephalopathy 2 [RCV001202850]|not specified [RCV000144838] ChrX:18646032 [GRCh38]
ChrX:18664152 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000544730]|not specified [RCV000145539] ChrX:18650539 [GRCh38]
ChrX:18668659 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.3008T>C (p.Met1003Thr) single nucleotide variant not specified [RCV000145540] ChrX:18653459 [GRCh38]
ChrX:18671579 [GRCh37]
ChrX:Xp22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.3042C>A (p.Asn1014Lys) single nucleotide variant not provided [RCV000144841] ChrX:18653493 [GRCh38]
ChrX:18671613 [GRCh37]
ChrX:Xp22.13
uncertain significance
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
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145537] ChrX:18650432 [GRCh38]
ChrX:18668552 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
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 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.13(chrX:18644057-18672058)x0 copy number loss See cases [RCV000135987] ChrX:18644057..18672058 [GRCh38]
ChrX:18662177..18690178 [GRCh37]
ChrX:18572098..18600099 [NCBI36]
ChrX:Xp22.13
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 Xp22.13(chrX:18644112-18804034)x3 copy number gain See cases [RCV000136634] ChrX:18644112..18804034 [GRCh38]
ChrX:18662232..18822152 [GRCh37]
ChrX:18572153..18732073 [NCBI36]
ChrX:Xp22.13
uncertain significance
GRCh38/hg38 Xp22.13(chrX:18644112-18804034)x2 copy number gain See cases [RCV000136635] ChrX:18644112..18804034 [GRCh38]
ChrX:18662232..18822152 [GRCh37]
ChrX:18572153..18732073 [NCBI36]
ChrX:Xp22.13
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 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.13(chrX:18570473-18651053)x1 copy number loss See cases [RCV000138681] ChrX:18570473..18651053 [GRCh38]
ChrX:18588593..18669173 [GRCh37]
ChrX:18498514..18579094 [NCBI36]
ChrX:Xp22.13
likely pathogenic
GRCh38/hg38 Xp22.13(chrX:18644112-18676976)x1 copy number loss See cases [RCV000138345] ChrX:18644112..18676976 [GRCh38]
ChrX:18662232..18695095 [GRCh37]
ChrX:18572153..18605016 [NCBI36]
ChrX:Xp22.13
pathogenic|likely 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
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 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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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_000330.3(RS1):c.184+3171C>T single nucleotide variant not provided [RCV000152960] ChrX:18653482 [GRCh38]
ChrX:18671602 [GRCh37]
ChrX:Xp22.13
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_003159.2(CDKL5):c.2896G>A (p.Val966Ile) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000990489]|not specified [RCV000194778] ChrX:18650508 [GRCh38]
ChrX:18668628 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_003159.2(CDKL5):c.146-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170000] ChrX:18575354..18653629 [GRCh38]
ChrX:18593474..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-162-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170002] ChrX:18506935..18653629 [GRCh38]
ChrX:18525055..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2377-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170022] ChrX:18625128..18653629 [GRCh38]
ChrX:18643248..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2497-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170024] ChrX:18628371..18653629 [GRCh38]
ChrX:18646491..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
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 Xp22.13(chrX:18442534-18684145)x1 copy number loss See cases [RCV000239896] ChrX:18442534..18684145 [GRCh37]
ChrX:Xp22.13
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000330.3(RS1):c.597C>A (p.Ile199=) single nucleotide variant not specified [RCV000251769] ChrX:18642082 [GRCh38]
ChrX:18660202 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000330.3(RS1):c.576C>T (p.Pro192=) single nucleotide variant not provided [RCV000941303]|not specified [RCV000247213] ChrX:18642103 [GRCh38]
ChrX:18660223 [GRCh37]
ChrX:Xp22.13
benign|likely benign
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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_000330.3(RS1):c.520del (p.Arg174fs) deletion not provided [RCV000285350] ChrX:18644432 [GRCh38]
ChrX:18662552 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2797+12G>T single nucleotide variant not provided [RCV000339206] ChrX:18646102 [GRCh38]
ChrX:18664222 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2797+1193C>T single nucleotide variant not provided [RCV000399619] ChrX:18647283 [GRCh38]
ChrX:18665403 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.185-3078_185-3076del deletion not provided [RCV000489559] ChrX:18650408..18650410 [GRCh38]
ChrX:18668528..18668530 [GRCh37]
ChrX:Xp22.13
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_003159.2(CDKL5):c.2714-3872_2714-3871delinsCT indel not specified [RCV000598695] ChrX:18642135..18642136 [GRCh38]
ChrX:18660255..18660256 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000578886] ChrX:18672068 [GRCh38]
ChrX:18690188 [GRCh37]
ChrX:Xp22.13
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000640496] ChrX:18650453 [GRCh38]
ChrX:18668573 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.3(RS1):c.673T>C (p.Ter225Arg) single nucleotide variant Juvenile retinoschisis [RCV000409978] ChrX:18642006 [GRCh38]
ChrX:18660126 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.3(RS1):c.498C>A (p.Tyr166Ter) single nucleotide variant Juvenile retinoschisis [RCV000411199] ChrX:18644454 [GRCh38]
ChrX:18662574 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_003159.2(CDKL5):c.2797+10G>C single nucleotide variant not provided [RCV000734838] ChrX:18646100 [GRCh38]
ChrX:18664220 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.208G>A (p.Gly70Ser) single nucleotide variant Juvenile retinoschisis [RCV000984306]|Retinal dystrophy [RCV001074417]|not provided [RCV000412918] ChrX:18647309 [GRCh38]
ChrX:18665429 [GRCh37]
ChrX:Xp22.13
pathogenic
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
NM_000330.3(RS1):c.668G>A (p.Cys223Tyr) single nucleotide variant not provided [RCV000413709] ChrX:18642011 [GRCh38]
ChrX:18660131 [GRCh37]
ChrX:Xp22.13
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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_003159.2(CDKL5):c.2834A>G (p.His945Arg) single nucleotide variant not specified [RCV000434216] ChrX:18650446 [GRCh38]
ChrX:18668566 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2797+14C>G single nucleotide variant not specified [RCV000445131] ChrX:18646104 [GRCh38]
ChrX:18664224 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) single nucleotide variant not provided [RCV000640497]|not specified [RCV000421080] ChrX:18650545 [GRCh38]
ChrX:18668665 [GRCh37]
ChrX:Xp22.13
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_003159.2(CDKL5):c.2829G>A (p.Lys943=) single nucleotide variant not specified [RCV000428509] ChrX:18650441 [GRCh38]
ChrX:18668561 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.3(RS1):c.279T>A (p.Tyr93Ter) single nucleotide variant not provided [RCV000426218] ChrX:18647238 [GRCh38]
ChrX:18665358 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2797+14C>T single nucleotide variant not specified [RCV000429390] ChrX:18646104 [GRCh38]
ChrX:18664224 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2797+16C>T single nucleotide variant not specified [RCV000440068] ChrX:18646106 [GRCh38]
ChrX:18664226 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2867G>A (p.Arg956His) single nucleotide variant History of neurodevelopmental disorder [RCV000720268]|not provided [RCV000932895]|not specified [RCV000420196] ChrX:18650479 [GRCh38]
ChrX:18668599 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_003159.2(CDKL5):c.2909G>A (p.Arg970Gln) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000869258]|not specified [RCV000420484] ChrX:18650521 [GRCh38]
ChrX:18668641 [GRCh37]
ChrX:Xp22.13
benign|likely 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-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000466195]|Epileptic encephalopathy [RCV000416997] ChrX:18650592 [GRCh38]
ChrX:18668712 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance
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_000330.3(RS1):c.185-3119_185-3117dup duplication not provided [RCV000481284] ChrX:18650448..18650449 [GRCh38]
ChrX:18668568..18668569 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2935C>A (p.Gln979Lys) single nucleotide variant not provided [RCV000486546] ChrX:18650547 [GRCh38]
ChrX:18668667 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.170T>C (p.Leu57Ser) single nucleotide variant not provided [RCV000487163] ChrX:18656667 [GRCh38]
ChrX:18674787 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2881C>G (p.Pro961Ala) single nucleotide variant not provided [RCV000487199] ChrX:18650493 [GRCh38]
ChrX:18668613 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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
NM_003159.2(CDKL5):c.2857G>T (p.Ala953Ser) single nucleotide variant not provided [RCV000863319]|not specified [RCV000499664] ChrX:18650469 [GRCh38]
ChrX:18668589 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(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 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
NM_000330.3(RS1):c.452A>C (p.Tyr151Ser) single nucleotide variant not provided [RCV000494534] ChrX:18644500 [GRCh38]
ChrX:18662620 [GRCh37]
ChrX:Xp22.13
likely 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:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.13(chrX:18590650-18727244)x2 copy number gain See cases [RCV000511304] ChrX:18590650..18727244 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000532113]|History of neurodevelopmental disorder [RCV000716870] ChrX:18646076 [GRCh38]
ChrX:18664196 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
NM_000330.4(RS1):c.326+1093_326+1094del deletion Early infantile epileptic encephalopathy 2 [RCV000640494] ChrX:18646097..18646098 [GRCh38]
ChrX:18664217..18664218 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.3021G>A (p.Leu1007=) single nucleotide variant not specified [RCV000612509] ChrX:18653472 [GRCh38]
ChrX:18671592 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2784G>A (p.Thr928=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000869391]|History of neurodevelopmental disorder [RCV000717025]|not specified [RCV000600356] ChrX:18646077 [GRCh38]
ChrX:18664197 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.3(RS1):c.184+2T>G single nucleotide variant not provided [RCV000523476] ChrX:18656651 [GRCh38]
ChrX:18674771 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.3(RS1):c.184+3128G>A single nucleotide variant not provided [RCV000596362] ChrX:18653525 [GRCh38]
ChrX:18671645 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2980+20C>T single nucleotide variant not specified [RCV000616542] ChrX:18650612 [GRCh38]
ChrX:18668732 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000640487]|not specified [RCV000611213] ChrX:18650553 [GRCh38]
ChrX:18668673 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
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
NM_003159.2(CDKL5):c.3004G>A (p.Val1002Ile) single nucleotide variant not specified [RCV000605627] ChrX:18653455 [GRCh38]
ChrX:18671575 [GRCh37]
ChrX:Xp22.13
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_000330.3(RS1):c.366G>A (p.Trp122Ter) single nucleotide variant Juvenile retinoschisis [RCV001199774]|not provided [RCV000659145] ChrX:18644586 [GRCh38]
ChrX:18662706 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.13(chrX:18456527-19119902)x2 copy number gain not provided [RCV000684285] ChrX:18456527..19119902 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
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
NM_003159.2(CDKL5):c.2866C>T (p.Arg956Cys) single nucleotide variant not provided [RCV000711156] ChrX:18650478 [GRCh38]
ChrX:18668598 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.10:g.(?_17393861)_(18671684_?)del deletion Early infantile epileptic encephalopathy 2 [RCV000708502] ChrX:17393861..18671684 [GRCh37]
ChrX:Xp22.13
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
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_003159.2(CDKL5):c.3059C>A (p.Thr1020Lys) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000908885]|History of neurodevelopmental disorder [RCV000720701] ChrX:18653510 [GRCh38]
ChrX:18671630 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
NM_000330.4(RS1):c.632C>T (p.Ala211Val) single nucleotide variant Retinoschisis [RCV001003213] ChrX:18642047 [GRCh38]
ChrX:18660167 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.13(chrX:17921530-18947424)x2 copy number gain not provided [RCV000753400] ChrX:17921530..18947424 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.13(chrX:18662484-18662736)x2 copy number gain not provided [RCV000753408] ChrX:18662484..18662736 [GRCh37]
ChrX:Xp22.13
benign
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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000330.4(RS1):c.88G>A (p.Glu30Lys) single nucleotide variant not provided [RCV000896464] ChrX:18656749 [GRCh38]
ChrX:18674869 [GRCh37]
ChrX:Xp22.13
benign
NM_001037343.1(CDKL5):c.2810G>A (p.Cys937Tyr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000760274] ChrX:18650422 [GRCh38]
ChrX:18668542 [GRCh37]
ChrX:Xp22.13
likely pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NC_000023.11:g.(?_18564457)_(18653564_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001032180] ChrX:18582577..18671684 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) single nucleotide variant Juvenile retinoschisis [RCV001276602]|not provided [RCV000881696] ChrX:18647222 [GRCh38]
ChrX:18665342 [GRCh37]
ChrX:Xp22.13
benign
NM_000330.4(RS1):c.433G>A (p.Asp145Asn) single nucleotide variant not provided [RCV000982352] ChrX:18644519 [GRCh38]
ChrX:18662639 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.4(RS1):c.53-1G>A single nucleotide variant Retinal dystrophy [RCV001075307] ChrX:18657666 [GRCh38]
ChrX:18675786 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.184+3170G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001054862] ChrX:18653483 [GRCh38]
ChrX:18671603 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.535A>C (p.Asn179His) single nucleotide variant not provided [RCV001071992] ChrX:18642144 [GRCh38]
ChrX:18660264 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.209G>C (p.Gly70Ala) single nucleotide variant not provided [RCV001063878] ChrX:18647308 [GRCh38]
ChrX:18665428 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.575_576insT (p.Ile194fs) insertion not provided [RCV001045512] ChrX:18642103..18642104 [GRCh38]
ChrX:18660223..18660224 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.523-10_523-7del deletion Juvenile retinoschisis [RCV001276601]|not provided [RCV001042185] ChrX:18642163..18642166 [GRCh38]
ChrX:18660283..18660286 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.11:g.(?_18657640)_(18657665_?)del deletion not provided [RCV001031285] ChrX:18675760..18675785 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) single nucleotide variant Retinal dystrophy [RCV001074361] ChrX:18656661 [GRCh38]
ChrX:18674781 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.575C>T (p.Pro192Leu) single nucleotide variant not provided [RCV001070114] ChrX:18642104 [GRCh38]
ChrX:18660224 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.386A>T (p.Glu129Val) single nucleotide variant Retinal dystrophy [RCV001074536] ChrX:18644566 [GRCh38]
ChrX:18662686 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.133G>T (p.Gly45Ter) single nucleotide variant Retinal dystrophy [RCV001074784] ChrX:18656704 [GRCh38]
ChrX:18674824 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.326+1151T>C single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001038636] ChrX:18646040 [GRCh38]
ChrX:18664160 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.216G>A (p.Glu72=) single nucleotide variant not provided [RCV000982336] ChrX:18647301 [GRCh38]
ChrX:18665421 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.4(RS1):c.326+8G>C single nucleotide variant not provided [RCV000977208] ChrX:18647183 [GRCh38]
ChrX:18665303 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.4(RS1):c.471C>T (p.Thr157=) single nucleotide variant Juvenile retinoschisis [RCV001271283]|not provided [RCV000981432] ChrX:18644481 [GRCh38]
ChrX:18662601 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.4(RS1):c.184+3154A>G single nucleotide variant not provided [RCV000937806] ChrX:18653499 [GRCh38]
ChrX:18671619 [GRCh37]
ChrX:Xp22.13
likely benign
NM_003159.2(CDKL5):c.2981-263G>T single nucleotide variant not provided [RCV000840305] ChrX:18653169 [GRCh38]
ChrX:18671289 [GRCh37]
ChrX:Xp22.13
benign
NM_000330.3(RS1):c.184+3158_184+3167del deletion Early infantile epileptic encephalopathy 2 [RCV000795487] ChrX:18653486..18653495 [GRCh38]
ChrX:18671606..18671615 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2 copy number gain not provided [RCV000849199] ChrX:17557444..19260546 [GRCh37]
ChrX:Xp22.13
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
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
NC_000023.11:g.(?_18506933)_(18653564_?)del deletion Early infantile epileptic encephalopathy 2 [RCV000819899] ChrX:18506933..18653564 [GRCh38]
ChrX:18525053..18671684 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.76G>A (p.Glu26Lys) single nucleotide variant Juvenile retinoschisis [RCV001271285]|not provided [RCV000917354] ChrX:18657642 [GRCh38]
ChrX:18675762 [GRCh37]
ChrX:Xp22.13
benign
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 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_000330.4(RS1):c.184+3119G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001066908]|not provided [RCV000999343] ChrX:18653534 [GRCh38]
ChrX:18671654 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.(?_18653412)_(18653564_?)del deletion Early infantile epileptic encephalopathy 2 [RCV001031257] ChrX:18671532..18671684 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.320G>T (p.Gly107Val) single nucleotide variant Juvenile retinoschisis [RCV001196850] ChrX:18647197 [GRCh38]
ChrX:18665317 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.184+3139G>C single nucleotide variant not provided [RCV001171560] ChrX:18653514 [GRCh38]
ChrX:18671634 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.335_336dup (p.Leu113fs) duplication not provided [RCV001226302] ChrX:18644615..18644616 [GRCh38]
ChrX:18662735..18662736 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.288G>C (p.Trp96Cys) single nucleotide variant not provided [RCV001234200] ChrX:18647229 [GRCh38]
ChrX:18665349 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.325G>A (p.Gly109Arg) single nucleotide variant not provided [RCV001209952] ChrX:18647192 [GRCh38]
ChrX:18665312 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.185-3221G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001196426]|Early infantile epileptic encephalopathy 2 [RCV001247832] ChrX:18650553 [GRCh38]
ChrX:18668673 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
NM_000330.4(RS1):c.257C>T (p.Pro86Leu) single nucleotide variant not provided [RCV001247741] ChrX:18647260 [GRCh38]
ChrX:18665380 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000330.4(RS1):c.649del (p.Leu217fs) deletion Juvenile retinoschisis [RCV001198999] ChrX:18642030 [GRCh38]
ChrX:18660150 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.264G>C (p.Gln88His) single nucleotide variant not provided [RCV000904776] ChrX:18647253 [GRCh38]
ChrX:18665373 [GRCh37]
ChrX:Xp22.13
benign
NM_000330.4(RS1):c.184+9C>T single nucleotide variant Juvenile retinoschisis [RCV001276604]|not provided [RCV000932524] ChrX:18656644 [GRCh38]
ChrX:18674764 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance
NM_000330.4(RS1):c.285G>A (p.Ser95=) single nucleotide variant Juvenile retinoschisis [RCV001276603]|not provided [RCV000914621] ChrX:18647232 [GRCh38]
ChrX:18665352 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000330.4(RS1):c.414C>A (p.Thr138=) single nucleotide variant not provided [RCV000932825] ChrX:18644538 [GRCh38]
ChrX:18662658 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.4(RS1):c.258G>A (p.Pro86=) single nucleotide variant Juvenile retinoschisis [RCV001271284]|not provided [RCV000974336] ChrX:18647259 [GRCh38]
ChrX:18665379 [GRCh37]
ChrX:Xp22.13
benign
NM_000330.4(RS1):c.247T>C (p.Cys83Arg) single nucleotide variant not provided [RCV001239146] ChrX:18647270 [GRCh38]
ChrX:18665390 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
NM_000330.4(RS1):c.185-3128G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001208265] ChrX:18650460 [GRCh38]
ChrX:18668580 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.316C>T (p.Gln106Ter) single nucleotide variant Retinal dystrophy [RCV001075251]|not provided [RCV001055311] ChrX:18647201 [GRCh38]
ChrX:18665321 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000330.4(RS1):c.521G>A (p.Arg174Gln) single nucleotide variant not provided [RCV001240090] ChrX:18644431 [GRCh38]
ChrX:18662551 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.218C>A (p.Ser73Ter) single nucleotide variant not provided [RCV001053673] ChrX:18647299 [GRCh38]
ChrX:18665419 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.184+3231A>C single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001220870] ChrX:18653422 [GRCh38]
ChrX:18671542 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.7C>G (p.Arg3Gly) single nucleotide variant Juvenile retinoschisis [RCV001271286]|not provided [RCV000934998] ChrX:18672062 [GRCh38]
ChrX:18690182 [GRCh37]
ChrX:Xp22.13
benign
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) single nucleotide variant Juvenile retinoschisis [RCV001276600]|not provided [RCV000912680] ChrX:18642131 [GRCh38]
ChrX:18660251 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000330.4(RS1):c.185-3124G>A single nucleotide variant not provided [RCV000934736] ChrX:18650456 [GRCh38]
ChrX:18668576 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000330.4(RS1):c.607C>A (p.Pro203Thr) single nucleotide variant not provided [RCV001054460] ChrX:18642072 [GRCh38]
ChrX:18660192 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.375_379del (p.Asp126fs) deletion Retinal dystrophy [RCV001073801] ChrX:18644573..18644577 [GRCh38]
ChrX:18662693..18662697 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) duplication Juvenile retinoschisis [RCV001199773]|not provided [RCV001268722] ChrX:18647310..18647311 [GRCh38]
ChrX:18665430..18665431 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.185-3261C>T single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001214858] ChrX:18650593 [GRCh38]
ChrX:18668713 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.326+1106del deletion Early infantile epileptic encephalopathy 2 [RCV001214897] ChrX:18646085 [GRCh38]
ChrX:18664205 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.572G>A (p.Arg191Gln) single nucleotide variant not provided [RCV001207905] ChrX:18642107 [GRCh38]
ChrX:18660227 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.10:g.(?_17393861)_(18671684_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001033299] ChrX:17393861..18671684 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.184+3136A>T single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001207989] ChrX:18653517 [GRCh38]
ChrX:18671637 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.450G>C (p.Lys150Asn) single nucleotide variant not provided [RCV001203521] ChrX:18644502 [GRCh38]
ChrX:18662622 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.87C>T (p.Gly29=) single nucleotide variant not provided [RCV001037047] ChrX:18656750 [GRCh38]
ChrX:18674870 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.266dup (p.Tyr89Ter) duplication Retinal dystrophy [RCV001075068] ChrX:18647250..18647251 [GRCh38]
ChrX:18665370..18665371 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.185-3212G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001203084] ChrX:18650544 [GRCh38]
ChrX:18668664 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.218C>G (p.Ser73Ter) single nucleotide variant not provided [RCV001203310] ChrX:18647299 [GRCh38]
ChrX:18665419 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.4(RS1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001233338] ChrX:18672066 [GRCh38]
ChrX:18690186 [GRCh37]
ChrX:Xp22.13
pathogenic
NC_000023.10:g.(?_18660114)_(19377781_?)del deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV001033913] ChrX:18660114..19377781 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic
GRCh37/hg19 Xp22.13(chrX:18661283-18702225)x1 copy number loss not provided [RCV001259455] ChrX:18661283..18702225 [GRCh37]
ChrX:Xp22.13
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_000330.4(RS1):c.523-10A>C single nucleotide variant not provided [RCV001257194] ChrX:18642166 [GRCh38]
ChrX:18660286 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.13-22.12(chrX:18582617-19417295)x3 copy number gain not provided [RCV001259459] ChrX:18582617..19417295 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000330.4(RS1):c.53-713_78+266del deletion Juvenile retinoschisis [RCV001353017] ChrX:18657374..18658378 [GRCh38]
ChrX:18675494..18676498 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.311A>C (p.Asn104Thr) single nucleotide variant not provided [RCV001319323] ChrX:18647206 [GRCh38]
ChrX:18665326 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.320G>A (p.Gly107Asp) single nucleotide variant not provided [RCV001309131] ChrX:18647197 [GRCh38]
ChrX:18665317 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.629T>A (p.Ile210Asn) single nucleotide variant not provided [RCV001339772] ChrX:18642050 [GRCh38]
ChrX:18660170 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.487T>G (p.Trp163Gly) single nucleotide variant not provided [RCV001311819] ChrX:18644465 [GRCh38]
ChrX:18662585 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NC_000023.10:g.(?_18668510)_(18668732_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001304610] ChrX:18668510..18668732 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.150G>A (p.Trp50Ter) single nucleotide variant Juvenile retinoschisis [RCV001353045] ChrX:18656687 [GRCh38]
ChrX:18674807 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000330.4(RS1):c.409C>T (p.Leu137Phe) single nucleotide variant not provided [RCV001324033] ChrX:18644543 [GRCh38]
ChrX:18662663 [GRCh37]
ChrX:Xp22.13
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_000330.4(RS1):c.185-3110G>C single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001324805] ChrX:18650442 [GRCh38]
ChrX:18668562 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.10:g.(?_18671542)_(18671664_?)del deletion Early infantile epileptic encephalopathy 2 [RCV001314001] ChrX:18671542..18671664 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.185-3127del deletion Early infantile epileptic encephalopathy 2 [RCV001350465] ChrX:18650459 [GRCh38]
ChrX:18668579 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.184+3173C>T single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001344468] ChrX:18653480 [GRCh38]
ChrX:18671600 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.10:g.(?_18525053)_(18665462_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001314002] ChrX:18525053..18665462 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.185-3054G>A single nucleotide variant not provided [RCV001288565] ChrX:18650386 [GRCh38]
ChrX:18668506 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.4(RS1):c.215A>G (p.Glu72Gly) single nucleotide variant Juvenile retinoschisis [RCV001283764] ChrX:18647302 [GRCh38]
ChrX:18665422 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000330.4(RS1):c.184+3152G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001316371] ChrX:18653501 [GRCh38]
ChrX:18671621 [GRCh37]
ChrX:Xp22.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10457 AgrOrtholog
COSMIC RS1 COSMIC
Ensembl Genes ENSG00000102104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369320 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379984 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102104 GTEx
HGNC ID HGNC:10457 ENTREZGENE
Human Proteome Map RS1 Human Proteome Map
InterPro FA58C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6247 UniProtKB/Swiss-Prot
NCBI Gene 6247 ENTREZGENE
OMIM 300839 OMIM
  312700 OMIM
Pfam F5_F8_type_C UniProtKB/Swiss-Prot
PharmGKB PA34871 PharmGKB
PROSITE FA58C_1 UniProtKB/Swiss-Prot
  FA58C_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FA58C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0MT07_HUMAN UniProtKB/TrEMBL
  O15537 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q0QD39 UniProtKB/Swiss-Prot