PCDH19 (protocadherin 19) - Rat Genome Database

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Gene: PCDH19 (protocadherin 19) Homo sapiens
Analyze
Symbol: PCDH19
Name: protocadherin 19
RGD ID: 1354208
HGNC Page HGNC
Description: Predicted to have calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to localize to integral component of plasma membrane. Implicated in developmental and epileptic encephalopathy 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DEE9; DKFZp686P1843; EFMR; EIEE9; epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome); KIAA1313; protocadherin-19
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX100,291,644 - 100,410,273 (-)EnsemblGRCh38hg38GRCh38
GRCh38X100,291,644 - 100,410,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,546,642 - 99,665,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,433,298 - 99,551,927 (-)NCBINCBI36hg18NCBI36
Build 34X99,352,786 - 99,468,297NCBI
CeleraX100,067,096 - 100,185,714 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,347,660 - 89,465,802 (-)NCBIHuRef
CHM1_1X99,439,320 - 99,557,952 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal eating behavior  (IAGP)
Abnormal social behavior  (IAGP)
Action tremor  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Atonic seizure  (IAGP)
Atypical absence seizure  (IAGP)
Autistic behavior  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradykinesia  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cognitive impairment  (IAGP)
Cogwheel rigidity  (IAGP)
Complex febrile seizure  (IAGP)
Cyanotic episode  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Drooling  (IAGP)
Dysgenesis of the hippocampus  (IAGP)
EEG with generalized epileptiform discharges  (IAGP)
Epilepsia partialis continua  (IAGP)
Facial tics  (IAGP)
Focal aware seizure  (IAGP)
Focal hemiclonic seizure  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frontal cortical atrophy  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hand tremor  (IAGP)
Heterotropia  (IAGP)
Hyperactivity  (IAGP)
Impulsivity  (IAGP)
Incoordination  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Limited knee extension  (IAGP)
Limited neck range of motion  (IAGP)
Long palpebral fissure  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonus  (IAGP)
Nonketotic hyperglycinemia  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Obsessive-compulsive trait  (IAGP)
Pallor  (IAGP)
Parkinsonism  (IAGP)
Paroxysmal choreoathetosis  (IAGP)
Paroxysmal dyskinesia  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Photosensitive myoclonic seizure  (IAGP)
Photosensitive tonic-clonic seizure  (IAGP)
Poor fine motor coordination  (IAGP)
Progressive gait ataxia  (IAGP)
Prominent fingertip pads  (IAGP)
Psychosis  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Sleep disturbance  (IAGP)
Status epilepticus  (IAGP)
Status epilepticus without prominent motor symptoms  (IAGP)
Strabismus  (IAGP)
Temporal cortical atrophy  (IAGP)
Tibial torsion  (IAGP)
X-linked inheritance  (IAGP)
References

Additional References at PubMed
PMID:2126489   PMID:5116697   PMID:8889548   PMID:9288105   PMID:10718198   PMID:11549318   PMID:12477932   PMID:14702039   PMID:15772651   PMID:16261168   PMID:16344560   PMID:18469813  
PMID:19214208   PMID:19752159   PMID:20713952   PMID:20830798   PMID:21053371   PMID:21480887   PMID:21504426   PMID:21519002   PMID:21777234   PMID:21873635   PMID:22050978   PMID:22091964  
PMID:22504056   PMID:22848613   PMID:22946748   PMID:22949144   PMID:23066759   PMID:23093055   PMID:23334464   PMID:23712037   PMID:25204757   PMID:25218114   PMID:25227595   PMID:25499160  
PMID:25510386   PMID:25818041   PMID:25891919   PMID:26123493   PMID:26450854   PMID:26765483   PMID:26820223   PMID:26898795   PMID:27016041   PMID:27179713   PMID:27527380   PMID:28462982  
PMID:28471529   PMID:28514442   PMID:28669061   PMID:29301106   PMID:29377098   PMID:29749051   PMID:29763708   PMID:29866057   PMID:29892053   PMID:30021884   PMID:30287595   PMID:30431232  
PMID:30451291   PMID:30582250   PMID:31678000   PMID:31753913   PMID:32062451   PMID:32105270   PMID:32314541   PMID:32852734   PMID:33087045  


Genomics

Comparative Map Data
PCDH19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX100,291,644 - 100,410,273 (-)EnsemblGRCh38hg38GRCh38
GRCh38X100,291,644 - 100,410,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,546,642 - 99,665,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,433,298 - 99,551,927 (-)NCBINCBI36hg18NCBI36
Build 34X99,352,786 - 99,468,297NCBI
CeleraX100,067,096 - 100,185,714 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,347,660 - 89,465,802 (-)NCBIHuRef
CHM1_1X99,439,320 - 99,557,952 (-)NCBICHM1_1
Pcdh19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X132,483,609 - 132,589,802 (-)NCBIGRCm39mm39
GRCm39 EnsemblX132,483,609 - 132,589,736 (-)Ensembl
GRCm38X133,582,860 - 133,689,044 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX133,582,860 - 133,688,987 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,117,399 - 130,223,532 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X128,933,367 - 129,035,343 (-)NCBImm8
CeleraX116,456,789 - 116,562,258 (-)NCBICelera
Cytogenetic MapXE3NCBI
Pcdh19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X96,767,686 - 96,873,477 (-)NCBI
Rnor_6.0 EnsemblX104,391,607 - 104,493,757 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X104,387,346 - 104,493,914 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X104,230,786 - 104,335,207 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,108,772 - 121,209,099 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX97,823,518 - 97,922,991 (-)NCBICelera
Cytogenetic MapXq32NCBI
Pcdh19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555036,434,047 - 6,567,253 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555036,428,894 - 6,567,253 (-)NCBIChiLan1.0ChiLan1.0
PCDH19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X99,643,595 - 99,759,631 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX99,643,595 - 99,759,631 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X89,504,404 - 89,622,354 (-)NCBIMhudiblu_PPA_v0panPan3
PCDH19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X74,179,609 - 74,319,138 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX74,184,772 - 74,317,391 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X75,589,131 - 75,726,986 (-)NCBI
UMICH_Zoey_3.1X73,151,338 - 73,289,267 (-)NCBI
UNSW_CanFamBas_1.0X74,820,721 - 74,958,753 (-)NCBI
UU_Cfam_GSD_1.0X74,582,488 - 74,720,481 (-)NCBI
Pcdh19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,884,867 - 63,984,266 (+)NCBI
SpeTri2.0NW_0049365845,568,740 - 5,668,095 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCDH19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,036,165 - 82,151,453 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,031,365 - 82,153,159 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X89,912,438 - 89,992,739 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PCDH19
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X88,613,546 - 88,730,740 (-)NCBI
ChlSab1.1 EnsemblX88,616,743 - 88,730,519 (-)Ensembl
Pcdh19
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249022,354,109 - 2,502,478 (+)NCBI

Position Markers
DXS8034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,626,788 - 99,627,063UniSTSGRCh37
Build 36X99,513,444 - 99,513,719RGDNCBI36
CeleraX100,147,234 - 100,147,509RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,427,439 - 89,427,720UniSTS
Marshfield Genetic MapX65.5RGD
Marshfield Genetic MapX65.5UniSTS
Genethon Genetic MapX113.5UniSTS
deCODE Assembly MapX101.2UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,568,725 - 99,568,923UniSTSGRCh37
Build 36X99,455,381 - 99,455,579RGDNCBI36
CeleraX100,089,181 - 100,089,379RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,369,883 - 89,370,081UniSTS
Marshfield Genetic MapX65.5RGD
Marshfield Genetic MapX65.5UniSTS
Genethon Genetic MapX113.6UniSTS
deCODE Assembly MapX101.2UniSTS
Whitehead-YAC Contig MapX UniSTS
SHGC-152336  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX100,089,174 - 100,089,363RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,369,876 - 89,370,065UniSTS
TNG Radiation Hybrid Map1258489.0UniSTS
SHGC-151197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,568,718 - 99,568,836UniSTSGRCh37
Build 36X99,455,374 - 99,455,492RGDNCBI36
CeleraX100,089,174 - 100,089,292RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,369,876 - 89,369,994UniSTS
TNG Radiation Hybrid MapX22351.0UniSTS
DXS7486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,550,922 - 99,551,171UniSTSGRCh37
Build 36X99,437,578 - 99,437,827RGDNCBI36
CeleraX100,071,376 - 100,071,625RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,351,940 - 89,352,189UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS7002E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,551,020 - 99,551,133UniSTSGRCh37
Build 36X99,437,676 - 99,437,789RGDNCBI36
CeleraX100,071,474 - 100,071,587RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,352,038 - 89,352,151UniSTS
GeneMap99-GB4 RH MapX270.17UniSTS
REN111392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377126,230,276 - 126,230,531UniSTSGRCh37
GRCh371847,304,471 - 47,304,727UniSTSGRCh37
Build 367126,017,512 - 126,017,767RGDNCBI36
Celera7121,031,666 - 121,031,921RGD
Celera1844,161,136 - 44,161,392UniSTS
HuRef1844,158,896 - 44,159,152UniSTS
HuRef198,007,434 - 98,007,694UniSTS
HuRef7120,590,671 - 120,590,926UniSTS
HuRefX89,360,784 - 89,361,045UniSTS
CRA_TCAGchr7v27125,613,422 - 125,613,677UniSTS
G13210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,546,669 - 99,546,775UniSTSGRCh37
Build 36X99,433,325 - 99,433,431RGDNCBI36
CeleraX100,067,123 - 100,067,229RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,347,687 - 89,347,793UniSTS
WI-14790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,549,989 - 99,550,091UniSTSGRCh37
Build 36X99,436,645 - 99,436,747RGDNCBI36
CeleraX100,070,443 - 100,070,545RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,351,007 - 89,351,109UniSTS
GeneMap99-GB4 RH MapX272.33UniSTS
Whitehead-RH MapX250.7UniSTS
AFM019TA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,618,835 - 99,618,912UniSTSGRCh37
Build 36X99,505,491 - 99,505,568RGDNCBI36
CeleraX100,139,281 - 100,139,358RGD
Cytogenetic MapXq22.1UniSTS
HuRefX89,419,408 - 89,419,493UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11132
Count of miRNA genes:1334
Interacting mature miRNAs:1766
Transcripts:ENST00000255531, ENST00000373034, ENST00000420881, ENST00000464981
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 1 1 2 3 138 4 75 19 3
Low 1611 614 613 147 101 13 2811 943 2792 81 1067 445 138 1178 1534
Below cutoff 748 1941 1006 387 781 362 1479 1234 774 261 266 1038 31 1 23 1253 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000255531   ⟹   ENSP00000255531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,291,646 - 100,408,597 (-)Ensembl
RefSeq Acc Id: ENST00000373034   ⟹   ENSP00000362125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,291,644 - 100,410,273 (-)Ensembl
RefSeq Acc Id: ENST00000420881   ⟹   ENSP00000400327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,291,644 - 100,408,597 (-)Ensembl
RefSeq Acc Id: ENST00000464981   ⟹   ENSP00000479805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,291,647 - 100,296,300 (-)Ensembl
RefSeq Acc Id: ENST00000636150   ⟹   ENSP00000490463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,350,662 - 100,406,515 (-)Ensembl
RefSeq Acc Id: NM_001105243   ⟹   NP_001098713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,291,644 - 100,410,273 (-)NCBI
GRCh37X99,546,642 - 99,665,271 (-)ENTREZGENE
Build 36X99,433,298 - 99,551,927 (-)NCBI Archive
HuRefX89,347,660 - 89,465,802 (-)ENTREZGENE
CHM1_1X99,439,320 - 99,557,952 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184880   ⟹   NP_001171809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,291,644 - 100,410,273 (-)NCBI
GRCh37X99,546,642 - 99,665,271 (-)ENTREZGENE
HuRefX89,347,660 - 89,465,802 (-)ENTREZGENE
CHM1_1X99,439,320 - 99,557,952 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020766   ⟹   NP_065817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,291,644 - 100,410,273 (-)NCBI
GRCh37X99,546,642 - 99,665,271 (-)ENTREZGENE
Build 36X99,433,298 - 99,551,927 (-)NCBI Archive
HuRefX89,347,660 - 89,465,802 (-)ENTREZGENE
CHM1_1X99,439,320 - 99,557,952 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530997   ⟹   XP_011529299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,291,644 - 100,409,242 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065817   ⟸   NM_020766
- Peptide Label: isoform b precursor
- UniProtKB: Q8TAB3 (UniProtKB/Swiss-Prot),   B3KU71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001098713   ⟸   NM_001105243
- Peptide Label: isoform a precursor
- UniProtKB: Q8TAB3 (UniProtKB/Swiss-Prot),   B3KU71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171809   ⟸   NM_001184880
- Peptide Label: isoform c precursor
- UniProtKB: Q8TAB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529299   ⟸   XM_011530997
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000479805   ⟸   ENST00000464981
RefSeq Acc Id: ENSP00000490463   ⟸   ENST00000636150
RefSeq Acc Id: ENSP00000255531   ⟸   ENST00000255531
RefSeq Acc Id: ENSP00000362125   ⟸   ENST00000373034
RefSeq Acc Id: ENSP00000400327   ⟸   ENST00000420881
Protein Domains
CA   Cadherin

Promoters
RGD ID:6809102
Promoter ID:HG_KWN:67462
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:NM_001105243,   NM_020766,   UC010NMZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X99,548,126 - 99,548,626 (-)MPROMDB
RGD ID:13627582
Promoter ID:EPDNEW_H29066
Type:initiation region
Name:PCDH19_1
Description:protocadherin 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29068  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,410,273 - 100,410,333EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000763636]|not provided [RCV000521156] ChrX:100406898 [GRCh38]
ChrX:99661896 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.207_208AC[1] (p.His70fs) microsatellite not provided [RCV000517089] ChrX:100408388..100408389 [GRCh38]
ChrX:99663386..99663387 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) single nucleotide variant not provided [RCV000554164] ChrX:100296730 [GRCh38]
ChrX:99551728 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1079A>C (p.Glu360Ala) single nucleotide variant not provided [RCV000520491] ChrX:100407519 [GRCh38]
ChrX:99662517 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.701A>G (p.Asn234Ser) single nucleotide variant not provided [RCV000523297] ChrX:100407897 [GRCh38]
ChrX:99662895 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) deletion Early infantile epileptic encephalopathy 9 [RCV000555563] ChrX:100402687 [GRCh38]
ChrX:99657685 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly) single nucleotide variant not specified [RCV000516258] ChrX:100341953 [GRCh38]
ChrX:99596951 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641125] ChrX:100407043 [GRCh38]
ChrX:99662041 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641128] ChrX:100403621 [GRCh38]
ChrX:99658619 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641129] ChrX:100402749 [GRCh38]
ChrX:99657747 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) duplication Early infantile epileptic encephalopathy 9 [RCV000641131] ChrX:100407076..100407077 [GRCh38]
ChrX:99662074..99662075 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641133] ChrX:100408027 [GRCh38]
ChrX:99663025 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641143] ChrX:100406546 [GRCh38]
ChrX:99661544 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3248A>G (p.Tyr1083Cys) single nucleotide variant not provided [RCV000728492] ChrX:100296476 [GRCh38]
ChrX:99551474 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000542938] ChrX:100408283 [GRCh38]
ChrX:99663281 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2616+13A>T single nucleotide variant not specified [RCV000602646] ChrX:100402511 [GRCh38]
ChrX:99657509 [GRCh37]
ChrX:Xq22.1
likely benign
PCDH19, 1-BP INS, 1091C insertion Early infantile epileptic encephalopathy 9 [RCV000011762] ChrX:Xq22 pathogenic
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000011763] ChrX:100407276 [GRCh38]
ChrX:99662274 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000011764] ChrX:100408345 [GRCh38]
ChrX:99663343 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000011765] ChrX:100406586 [GRCh38]
ChrX:99661584 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) duplication Early infantile epileptic encephalopathy 9 [RCV000011766] ChrX:100406567..100406568 [GRCh38]
ChrX:99661565..99661566 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000011767] ChrX:100408456 [GRCh38]
ChrX:99663454 [GRCh37]
ChrX:Xq22.1
pathogenic
PCDH19, 5-BP DUP, NT1036 duplication Early infantile epileptic encephalopathy 9 [RCV000011768] ChrX:Xq22 pathogenic
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000011769] ChrX:100406927 [GRCh38]
ChrX:99661925 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001206419]|not provided [RCV000521658] ChrX:100408182 [GRCh38]
ChrX:99663180 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1465T>C (p.Ser489Pro) single nucleotide variant not specified [RCV000522260] ChrX:100407133 [GRCh38]
ChrX:99662131 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) deletion Early infantile epileptic encephalopathy 9 [RCV000551347] ChrX:100407979 [GRCh38]
ChrX:99662977 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001302593] ChrX:100407388 [GRCh38]
ChrX:99662386 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.79T>A (p.Tyr27Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001348236] ChrX:100408519 [GRCh38]
ChrX:99663517 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) single nucleotide variant developmental delay with seizures [RCV000678823]|not provided [RCV000519539] ChrX:100408005 [GRCh38]
ChrX:99663003 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) single nucleotide variant not provided [RCV000516328] ChrX:100408429 [GRCh38]
ChrX:99663427 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) single nucleotide variant not provided [RCV000518268] ChrX:100407739 [GRCh38]
ChrX:99662737 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1447G>A (p.Gly483Ser) single nucleotide variant not provided [RCV000519041] ChrX:100407151 [GRCh38]
ChrX:99662149 [GRCh37]
ChrX:Xq22.1
uncertain significance
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: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)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.33-22.1(chrX:97610521-100562572)x1 copy number loss See cases [RCV000051712] ChrX:97610521..100562572 [GRCh38]
ChrX:96865520..99817569 [GRCh37]
ChrX:96752176..99704225 [NCBI36]
ChrX:Xq21.33-22.1
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001054719]|not provided [RCV000173238] ChrX:100407784 [GRCh38]
ChrX:99662782 [GRCh37]
ChrX:Xq22.1
pathogenic
Single allele duplication Early infantile epileptic encephalopathy 9 [RCV000173240] ChrX:99662504..99662505 [GRCh37] pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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
NM_001184880.2(PCDH19):c.785C>A (p.Ala262Asp) single nucleotide variant not provided [RCV000657888] ChrX:100407813 [GRCh38]
ChrX:99662811 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) indel Early infantile epileptic encephalopathy 9 [RCV000660879] ChrX:100408108..100408109 [GRCh38]
ChrX:99663106..99663107 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000227839]|History of neurodevelopmental disorder [RCV000717072]|not specified [RCV000079602] ChrX:100407461 [GRCh38]
ChrX:99662459 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000600298]|History of neurodevelopmental disorder [RCV000715042]|not specified [RCV000079603] ChrX:100406971 [GRCh38]
ChrX:99661969 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147072]|History of neurodevelopmental disorder [RCV000717498]|not provided [RCV000585369]|not specified [RCV000079604] ChrX:100406915 [GRCh38]
ChrX:99661913 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001082647]|History of neurodevelopmental disorder [RCV000716097]|not provided [RCV000712508]|not specified [RCV000079605] ChrX:100402671 [GRCh38]
ChrX:99657669 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641140]|History of neurodevelopmental disorder [RCV000720221]|not specified [RCV000188321] ChrX:100296489 [GRCh38]
ChrX:99551487 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147080]|History of neurodevelopmental disorder [RCV000720924]|Rolandic epilepsy [RCV000656077]|not provided [RCV000434675]|not specified [RCV000079607] ChrX:100296405 [GRCh38]
ChrX:99551403 [GRCh37]
ChrX:Xq22.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001064429]|not provided [RCV000079608] ChrX:100408224 [GRCh38]
ChrX:99663222 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) single nucleotide variant History of neurodevelopmental disorder [RCV000715043]|not specified [RCV000079609] ChrX:100408196 [GRCh38]
ChrX:99663194 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000465730]|History of neurodevelopmental disorder [RCV000718191]|not specified [RCV000212832] ChrX:100407943 [GRCh38]
ChrX:99662941 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000473000]|History of neurodevelopmental disorder [RCV000716333]|not specified [RCV000079611] ChrX:100408592 [GRCh38]
ChrX:99663590 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000234669]|History of neurodevelopmental disorder [RCV000715083]|not specified [RCV000079612] ChrX:100408517 [GRCh38]
ChrX:99663515 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs) deletion Early infantile epileptic encephalopathy 9 [RCV001004688] ChrX:100402600..100402609 [GRCh38]
ChrX:99657598..99657607 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000463342]|History of neurodevelopmental disorder [RCV000716760]|not specified [RCV000147077] ChrX:100296786 [GRCh38]
ChrX:99551784 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001079305]|History of neurodevelopmental disorder [RCV000715144]|not provided [RCV000712509]|not specified [RCV000147079] ChrX:100296706 [GRCh38]
ChrX:99551704 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=) single nucleotide variant not provided [RCV000871644]|not specified [RCV000127334] ChrX:100296607 [GRCh38]
ChrX:99551605 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000457399]|History of neurodevelopmental disorder [RCV000716730]|not specified [RCV000179377] ChrX:100296444 [GRCh38]
ChrX:99551442 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=) single nucleotide variant not specified [RCV000127336] ChrX:100296373 [GRCh38]
ChrX:99551371 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.*8T>C single nucleotide variant not specified [RCV000179378] ChrX:100296269 [GRCh38]
ChrX:99551267 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000230678]|History of neurodevelopmental disorder [RCV000720071]|not specified [RCV000147082] ChrX:100408067 [GRCh38]
ChrX:99663065 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000477486]|not specified [RCV000127341] ChrX:100407881 [GRCh38]
ChrX:99662879 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000456563]|History of neurodevelopmental disorder [RCV000718494]|not specified [RCV000127342] ChrX:100407710 [GRCh38]
ChrX:99662708 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) single nucleotide variant not specified [RCV000127344] ChrX:100406954 [GRCh38]
ChrX:99661952 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001079957]|not provided [RCV000712506]|not specified [RCV000147073] ChrX:100406873 [GRCh38]
ChrX:99661871 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000233996]|History of neurodevelopmental disorder [RCV000715141]|not provided [RCV000416088]|not specified [RCV000147086] ChrX:100341955 [GRCh38]
ChrX:99596953 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000533404]|not specified [RCV000179379] ChrX:100296324 [GRCh38]
ChrX:99551322 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) single nucleotide variant not provided [RCV000173237] ChrX:100407197 [GRCh38]
ChrX:99662195 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) single nucleotide variant not provided [RCV000173239] ChrX:100408370 [GRCh38]
ChrX:99663368 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001301985]|not provided [RCV000724033] ChrX:100408297 [GRCh38]
ChrX:99663295 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001317304]|not provided [RCV000173242] ChrX:100408119 [GRCh38]
ChrX:99663117 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001080644]|History of neurodevelopmental disorder [RCV000720106]|not provided [RCV000762660]|not specified [RCV000188361] ChrX:100407829 [GRCh38]
ChrX:99662827 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000536591]|not provided [RCV000173244] ChrX:100408039 [GRCh38]
ChrX:99663037 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2288+6A>G single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001312713] ChrX:100403518 [GRCh38]
ChrX:99658516 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1652T>A (p.Val551Asp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001312829] ChrX:100406946 [GRCh38]
ChrX:99661944 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs) microsatellite Early infantile epileptic encephalopathy 9 [RCV001303253] ChrX:100296286..100296287 [GRCh38]
ChrX:99551284..99551285 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147071] ChrX:100407050 [GRCh38]
ChrX:99662048 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147074] ChrX:100406629 [GRCh38]
ChrX:99661627 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147075]|Sleep disturbance [RCV000735393] ChrX:100402781 [GRCh38]
ChrX:99657779 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147076] ChrX:100342009 [GRCh38]
ChrX:99597007 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147078] ChrX:100296749 [GRCh38]
ChrX:99551747 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147081] ChrX:100408101 [GRCh38]
ChrX:99663099 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147083] ChrX:100407912 [GRCh38]
ChrX:99662910 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147084] ChrX:100407903 [GRCh38]
ChrX:99662901 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000147085]|not provided [RCV000490161] ChrX:100407808 [GRCh38]
ChrX:99662806 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq21.33-22.1(chrX:99011557-100309964)x1 copy number loss See cases [RCV000135573] ChrX:99011557..100309964 [GRCh38]
ChrX:98266555..99564962 [GRCh37]
ChrX:98153211..99451618 [NCBI36]
ChrX:Xq21.33-22.1
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.1(chrX:100286152-100924659)x2 copy number gain See cases [RCV000138284] ChrX:100286152..100924659 [GRCh38]
ChrX:99541150..100179648 [GRCh37]
ChrX:99427806..100066304 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xq21.33-22.1(chrX:98369057-100524621)x1 copy number loss See cases [RCV000139454] ChrX:98369057..100524621 [GRCh38]
ChrX:97624055..99779618 [GRCh37]
ChrX:97510711..99666274 [NCBI36]
ChrX:Xq21.33-22.1
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) single nucleotide variant not provided [RCV000153644] ChrX:100342030 [GRCh38]
ChrX:99597028 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000696918]|not provided [RCV000153645] ChrX:100408053 [GRCh38]
ChrX:99663051 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.271_273CTG[1] (p.Leu92del) microsatellite not provided [RCV000153646] ChrX:100408322..100408324 [GRCh38]
ChrX:99663320..99663322 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000462082]|not specified [RCV000192309] ChrX:100407656 [GRCh38]
ChrX:99662654 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) single nucleotide variant not specified [RCV000193308] ChrX:100342057 [GRCh38]
ChrX:99597055 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.1(PCDH19):c.*8T>C single nucleotide variant not specified [RCV000179378] ChrX:100296269 [GRCh38]
ChrX:99551267 [GRCh37]
benign
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) single nucleotide variant not provided [RCV000724194]|not specified [RCV000177126] ChrX:100402644 [GRCh38]
ChrX:99657642 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) indel Early infantile epileptic encephalopathy 9 [RCV000197764] ChrX:100408140..100408141 [GRCh38]
ChrX:99663138..99663139 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000193596] ChrX:100408108 [GRCh38]
ChrX:99663106 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.25_27CTG[3] (p.Leu12del) microsatellite not specified [RCV000188326] ChrX:100408562..100408564 [GRCh38]
ChrX:99663560..99663562 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) duplication Early infantile epileptic encephalopathy 9 [RCV000173240]|Global developmental delay [RCV000626781]|not provided [RCV000188390] ChrX:100407506..100407507 [GRCh38]
ChrX:99662504..99662505 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000764882]|Neurodevelopmental disorder with epilepsy [RCV001199411]|not provided [RCV000188327] ChrX:100408374 [GRCh38]
ChrX:99663372 [GRCh37]
ChrX:Xq22.1
benign|likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=) single nucleotide variant not specified [RCV000188334] ChrX:100406708 [GRCh38]
ChrX:99661706 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.2588T>G (p.Leu863Arg) single nucleotide variant not specified [RCV000188338] ChrX:100402552 [GRCh38]
ChrX:99657550 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001043481]|not provided [RCV000188340] ChrX:100296629 [GRCh38]
ChrX:99551627 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.91G>T (p.Glu31Ter) single nucleotide variant not provided [RCV000188342] ChrX:100408507 [GRCh38]
ChrX:99663505 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.361G>C (p.Asp121His) single nucleotide variant not provided [RCV000188345] ChrX:100408237 [GRCh38]
ChrX:99663235 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) single nucleotide variant not provided [RCV000188346] ChrX:100408229 [GRCh38]
ChrX:99663227 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.370G>T (p.Asp124Tyr) single nucleotide variant not provided [RCV000188347] ChrX:100408228 [GRCh38]
ChrX:99663226 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.424G>C (p.Ala142Pro) single nucleotide variant not provided [RCV000188348] ChrX:100408174 [GRCh38]
ChrX:99663172 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) single nucleotide variant not provided [RCV000188349] ChrX:100408161 [GRCh38]
ChrX:99663159 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.463G>A (p.Asp155Asn) single nucleotide variant not provided [RCV000188350] ChrX:100408135 [GRCh38]
ChrX:99663133 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) single nucleotide variant not provided [RCV000188351] ChrX:100408125 [GRCh38]
ChrX:99663123 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) single nucleotide variant not provided [RCV000188352] ChrX:100407979 [GRCh38]
ChrX:99662977 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) single nucleotide variant not provided [RCV000188353] ChrX:100408059 [GRCh38]
ChrX:99663057 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) single nucleotide variant not provided [RCV000188354] ChrX:100407975 [GRCh38]
ChrX:99662973 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.625A>C (p.Thr209Pro) single nucleotide variant not provided [RCV000188355] ChrX:100407973 [GRCh38]
ChrX:99662971 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.634G>C (p.Asp212His) single nucleotide variant not provided [RCV000188356] ChrX:100407964 [GRCh38]
ChrX:99662962 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.696T>A (p.Asn232Lys) single nucleotide variant not provided [RCV000188358] ChrX:100407902 [GRCh38]
ChrX:99662900 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) single nucleotide variant not provided [RCV000188359] ChrX:100407880 [GRCh38]
ChrX:99662878 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.750C>G (p.Asn250Lys) single nucleotide variant not provided [RCV000188360] ChrX:100407848 [GRCh38]
ChrX:99662846 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001246973]|not provided [RCV000188362] ChrX:100407594 [GRCh38]
ChrX:99662592 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) single nucleotide variant not provided [RCV000188363] ChrX:100407567 [GRCh38]
ChrX:99662565 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000698779]|not provided [RCV000188364] ChrX:100407484 [GRCh38]
ChrX:99662482 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001004686] ChrX:100407358 [GRCh38]
ChrX:99662356 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1241A>T (p.Glu414Val) single nucleotide variant not provided [RCV000188367] ChrX:100407357 [GRCh38]
ChrX:99662355 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199422]|not provided [RCV000188368] ChrX:100407263 [GRCh38]
ChrX:99662261 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1351C>T (p.Pro451Ser) single nucleotide variant not provided [RCV000188369] ChrX:100407247 [GRCh38]
ChrX:99662245 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter) single nucleotide variant not provided [RCV000188372] ChrX:100406973 [GRCh38]
ChrX:99661971 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000810766] ChrX:100406941 [GRCh38]
ChrX:99661939 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000720392]|not provided [RCV000188374] ChrX:100406916 [GRCh38]
ChrX:99661914 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) single nucleotide variant not provided [RCV000188375] ChrX:100406743 [GRCh38]
ChrX:99661741 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1820T>C (p.Met607Thr) single nucleotide variant not provided [RCV000188376] ChrX:100406778 [GRCh38]
ChrX:99661776 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001297616]|not provided [RCV000188377] ChrX:100406725 [GRCh38]
ChrX:99661723 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000801633]|not provided [RCV000188381] ChrX:100342064 [GRCh38]
ChrX:99597062 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn) single nucleotide variant not provided [RCV000188384] ChrX:100402576 [GRCh38]
ChrX:99657574 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.298_300ATC[1] (p.Ile101del) microsatellite not provided [RCV000188385] ChrX:100408295..100408297 [GRCh38]
ChrX:99663293..99663295 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.524del (p.Gly175fs) deletion not provided [RCV000188386] ChrX:100408074 [GRCh38]
ChrX:99663072 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) deletion not provided [RCV000188387] ChrX:100407793 [GRCh38]
ChrX:99662791 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) deletion Early infantile epileptic encephalopathy 9 [RCV000533782]|not provided [RCV000188388] ChrX:100407536..100407539 [GRCh38]
ChrX:99662534..99662537 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1376del (p.Gln459fs) deletion not provided [RCV000188389] ChrX:100407222 [GRCh38]
ChrX:99662220 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1134del (p.Gly379fs) deletion not provided [RCV000188391] ChrX:100407464 [GRCh38]
ChrX:99662462 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1308del (p.Lys437fs) deletion not provided [RCV000188392] ChrX:100407290 [GRCh38]
ChrX:99662288 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1683_1696del (p.Val562fs) deletion not provided [RCV000188393] ChrX:100406902..100406915 [GRCh38]
ChrX:99661900..99661913 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs) deletion not provided [RCV000188394] ChrX:100406839..100406846 [GRCh38]
ChrX:99661837..99661844 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1952dup (p.Leu652fs) duplication not provided [RCV000188395] ChrX:100406645..100406646 [GRCh38]
ChrX:99661643..99661644 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1952_1953CT[5] (p.Ala654fs) microsatellite not provided [RCV000188396] ChrX:100406638..100406639 [GRCh38]
ChrX:99661636..99661637 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) deletion Early infantile epileptic encephalopathy 9 [RCV000192451]|not provided [RCV000188397] ChrX:100402741 [GRCh38]
ChrX:99657739 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) single nucleotide variant not provided [RCV000188398] ChrX:100408100 [GRCh38]
ChrX:99663098 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) single nucleotide variant not provided [RCV000188400] ChrX:100408300 [GRCh38]
ChrX:99663298 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000560023]|History of neurodevelopmental disorder [RCV000720797]|not provided [RCV000188401] ChrX:100407579 [GRCh38]
ChrX:99662577 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.199_207del (p.Ser67_Pro69del) deletion not specified [RCV000188402] ChrX:100408391..100408399 [GRCh38]
ChrX:99663389..99663397 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.218_219insG (p.Asp73fs) insertion not provided [RCV000188404] ChrX:100408379..100408380 [GRCh38]
ChrX:99663377..99663378 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs) duplication not provided [RCV000188405] ChrX:100407631..100407632 [GRCh38]
ChrX:99662629..99662630 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1952_1953CT[2] (p.Ser653fs) microsatellite not provided [RCV000188406] ChrX:100406639..100406642 [GRCh38]
ChrX:99661637..99661640 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2384del (p.Glu795fs) deletion not provided [RCV000188407] ChrX:100402756 [GRCh38]
ChrX:99657754 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001304498]|not specified [RCV000188317] ChrX:100296785 [GRCh38]
ChrX:99551783 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp) single nucleotide variant not specified [RCV000188318] ChrX:100296687 [GRCh38]
ChrX:99551685 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001087102]|not provided [RCV000726609]|not specified [RCV000188319] ChrX:100296597 [GRCh38]
ChrX:99551595 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.3235C>A (p.Pro1079Thr) single nucleotide variant not specified [RCV000188320] ChrX:100296489 [GRCh38]
ChrX:99551487 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser) single nucleotide variant not specified [RCV000188322] ChrX:100296309 [GRCh38]
ChrX:99551307 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001080559]|not provided [RCV000514487]|not specified [RCV000188323] ChrX:100296285 [GRCh38]
ChrX:99551283 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.-38G>T single nucleotide variant not specified [RCV000188324] ChrX:100408635 [GRCh38]
ChrX:99663633 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.-9C>T single nucleotide variant not specified [RCV000188325] ChrX:100408606 [GRCh38]
ChrX:99663604 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000461264]|not specified [RCV000188328] ChrX:100408085 [GRCh38]
ChrX:99663083 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) single nucleotide variant not provided [RCV000725436]|not specified [RCV000188329] ChrX:100407389 [GRCh38]
ChrX:99662387 [GRCh37]
ChrX:Xq22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000606264]|not specified [RCV000188330] ChrX:100407304 [GRCh38]
ChrX:99662302 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000817711]|Neurodevelopmental disorder with epilepsy [RCV001199413]|not specified [RCV000188331]|sporadic NAFE [RCV001199414] ChrX:100407268 [GRCh38]
ChrX:99662266 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001215195]|not specified [RCV000188332] ChrX:100406858 [GRCh38]
ChrX:99661856 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001061379]|History of neurodevelopmental disorder [RCV000719968]|not specified [RCV000188333]|sporadic NAFE [RCV001199416] ChrX:100406721 [GRCh38]
ChrX:99661719 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000473104]|not specified [RCV000188335] ChrX:100406630 [GRCh38]
ChrX:99661628 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000548142]|not specified [RCV000188336] ChrX:100406574 [GRCh38]
ChrX:99661572 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001327581]|not provided [RCV000725852] ChrX:100402618 [GRCh38]
ChrX:99657616 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000808099]|not provided [RCV000188339] ChrX:100296645 [GRCh38]
ChrX:99551643 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001065355]|not provided [RCV000766557]|not specified [RCV000188341] ChrX:100296462 [GRCh38]
ChrX:99551460 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3353G>A (p.Ser1118Asn) single nucleotide variant not specified [RCV000188343] ChrX:100296371 [GRCh38]
ChrX:99551369 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641136]|History of neurodevelopmental disorder [RCV000720069]|not provided [RCV000188357] ChrX:100407903 [GRCh38]
ChrX:99662901 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000692886]|not provided [RCV000188365] ChrX:100407434 [GRCh38]
ChrX:99662432 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) single nucleotide variant not provided [RCV000188370] ChrX:100407216 [GRCh38]
ChrX:99662214 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001086672]|not provided [RCV000426410]|not specified [RCV000188371] ChrX:100406980 [GRCh38]
ChrX:99661978 [GRCh37]
ChrX:Xq22.1
benign|likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) single nucleotide variant not provided [RCV000188378] ChrX:100350665 [GRCh38]
ChrX:99605663 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2289-11C>G single nucleotide variant not provided [RCV000188379] ChrX:100402862 [GRCh38]
ChrX:99657860 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) single nucleotide variant not provided [RCV000188380] ChrX:100350653 [GRCh38]
ChrX:99605651 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn) single nucleotide variant not provided [RCV000188382] ChrX:100402821 [GRCh38]
ChrX:99657819 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001068796]|not provided [RCV001092881] ChrX:100402723 [GRCh38]
ChrX:99657721 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990898]|not specified [RCV000188399] ChrX:100296851 [GRCh38]
ChrX:99551849 [GRCh37]
ChrX:Xq22.1
benign|likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001051161]|Familial GGE [RCV001199417]|not specified [RCV000188403] ChrX:100407277 [GRCh38]
ChrX:99662275 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001229155] ChrX:100296285 [GRCh38]
ChrX:99551283 [GRCh37]
ChrX:Xq22.1
uncertain significance
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
NM_001184880.2(PCDH19):c.2849-2A>G single nucleotide variant not provided [RCV000255639] ChrX:100296877 [GRCh38]
ChrX:99551875 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000558559] ChrX:100408055 [GRCh38]
ChrX:99663053 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000560645] ChrX:100407468 [GRCh38]
ChrX:99662466 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641126]|not specified [RCV000519102] ChrX:100296597 [GRCh38]
ChrX:99551595 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2147+1G>A single nucleotide variant not provided [RCV000579137] ChrX:100406450 [GRCh38]
ChrX:99661448 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000557218] ChrX:100407948 [GRCh38]
ChrX:99662946 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000660226]|not provided [RCV000514200] ChrX:100406783 [GRCh38]
ChrX:99661781 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000549963] ChrX:100407809 [GRCh38]
ChrX:99662807 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000550527] ChrX:100407506 [GRCh38]
ChrX:99662504 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NC_000023.10:g.(?_99551255)_(99926004_?)del deletion Early infantile epileptic encephalopathy 9 [RCV000545068] ChrX:99551255..99926004 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001217491]|not provided [RCV000518719] ChrX:100407500 [GRCh38]
ChrX:99662498 [GRCh37]
ChrX:Xq22.1
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_001184880.2(PCDH19):c.646_655del (p.Pro216fs) deletion not provided [RCV000255733] ChrX:100407943..100407952 [GRCh38]
ChrX:99662941..99662950 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001184880.2(PCDH19):c.2147+2T>C single nucleotide variant not provided [RCV000519391] ChrX:100406449 [GRCh38]
ChrX:99661447 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) single nucleotide variant not provided [RCV000522359]|not specified [RCV000516449] ChrX:100407901 [GRCh38]
ChrX:99662899 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99551100-99606139)x1 copy number loss See cases [RCV000240547] ChrX:99551100..99606139 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs) deletion not provided [RCV000270686] ChrX:100407497 [GRCh38]
ChrX:99662495 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2617-7A>G single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001082416]|not provided [RCV000281327] ChrX:100350711 [GRCh38]
ChrX:99605709 [GRCh37]
ChrX:Xq22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) single nucleotide variant not provided [RCV000388552] ChrX:100296667 [GRCh38]
ChrX:99551665 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln) single nucleotide variant not provided [RCV000364391] ChrX:100402768 [GRCh38]
ChrX:99657766 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1263_1264CA[1] (p.Thr422fs) microsatellite Early infantile epileptic encephalopathy 9 [RCV001211095]|not provided [RCV000405797] ChrX:100407332..100407333 [GRCh38]
ChrX:99662330..99662331 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.406_408dup (p.Leu136dup) duplication not provided [RCV000266689] ChrX:100408189..100408190 [GRCh38]
ChrX:99663187..99663188 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199428]|not provided [RCV000523094] ChrX:100407129 [GRCh38]
ChrX:99662127 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1417_1418CT[1] (p.Ser474fs) microsatellite Early infantile epileptic encephalopathy 9 [RCV001242648]|not provided [RCV000489321] ChrX:100407176..100407179 [GRCh38]
ChrX:99662174..99662177 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn) single nucleotide variant not provided [RCV000489751] ChrX:100408237 [GRCh38]
ChrX:99663235 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) deletion not provided [RCV000487680] ChrX:100407730..100407733 [GRCh38]
ChrX:99662728..99662731 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.222C>G (p.Ile74Met) single nucleotide variant not provided [RCV000487980] ChrX:100408376 [GRCh38]
ChrX:99663374 [GRCh37]
ChrX:Xq22.1
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_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) single nucleotide variant not provided [RCV000488205] ChrX:100406878 [GRCh38]
ChrX:99661876 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001054798]|not provided [RCV000488326] ChrX:100408396 [GRCh38]
ChrX:99663394 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.387C>A (p.Phe129Leu) single nucleotide variant not provided [RCV000584834] ChrX:100408211 [GRCh38]
ChrX:99663209 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr) single nucleotide variant Inborn genetic diseases [RCV000622878] ChrX:100407580 [GRCh38]
ChrX:99662578 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) duplication Early infantile epileptic encephalopathy 9 [RCV000689380]|not provided [RCV000598651] ChrX:100407718..100407719 [GRCh38]
ChrX:99662716..99662717 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.311dup (p.Val105fs) duplication not provided [RCV000598679] ChrX:100408286..100408287 [GRCh38]
ChrX:99663284..99663285 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641134]|not provided [RCV001092883] ChrX:100407317 [GRCh38]
ChrX:99662315 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2592T>A (p.Ile864=) single nucleotide variant not provided [RCV000597349] ChrX:100402548 [GRCh38]
ChrX:99657546 [GRCh37]
ChrX:Xq22.1
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641135] ChrX:100402661 [GRCh38]
ChrX:99657659 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641137] ChrX:100407415 [GRCh38]
ChrX:99662413 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000768278] ChrX:100407891 [GRCh38]
ChrX:99662889 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001047901]|not provided [RCV000415986] ChrX:100296749 [GRCh38]
ChrX:99551747 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.841del (p.Val281fs) deletion not provided [RCV000734137] ChrX:100407757 [GRCh38]
ChrX:99662755 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000539769]|not provided [RCV001311089] ChrX:100341923 [GRCh38]
ChrX:99596921 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)x1 copy number loss See cases [RCV000446413] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) single nucleotide variant History of neurodevelopmental disorder [RCV000720175]|not specified [RCV000431244] ChrX:100407029 [GRCh38]
ChrX:99662027 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) single nucleotide variant not provided [RCV000710169]|not specified [RCV000431367] ChrX:100407245 [GRCh38]
ChrX:99662243 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_001184880.2(PCDH19):c.-47C>T single nucleotide variant not specified [RCV000438480] ChrX:100408644 [GRCh38]
ChrX:99663642 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) single nucleotide variant not provided [RCV000559611]|not specified [RCV000421103] ChrX:100296520 [GRCh38]
ChrX:99551518 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.741G>T (p.Val247=) single nucleotide variant not specified [RCV000424600] ChrX:100407857 [GRCh38]
ChrX:99662855 [GRCh37]
ChrX:Xq22.1
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_001184880.2(PCDH19):c.309C>G (p.Leu103=) single nucleotide variant not specified [RCV000442631] ChrX:100408289 [GRCh38]
ChrX:99663287 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) single nucleotide variant not provided [RCV000471738]|not specified [RCV000418866] ChrX:100406783 [GRCh38]
ChrX:99661781 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2288+9G>T single nucleotide variant not specified [RCV000428662] ChrX:100403515 [GRCh38]
ChrX:99658513 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=) single nucleotide variant not specified [RCV000432296] ChrX:100402839 [GRCh38]
ChrX:99657837 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001314898]|not provided [RCV000992503]|not specified [RCV000435697] ChrX:100406942 [GRCh38]
ChrX:99661940 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000952165]|not specified [RCV000421941] ChrX:100408277 [GRCh38]
ChrX:99663275 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.825C>A (p.Tyr275Ter) single nucleotide variant not provided [RCV000425887] ChrX:100407773 [GRCh38]
ChrX:99662771 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000868438]|not specified [RCV000419500] ChrX:100296520 [GRCh38]
ChrX:99551518 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000549473]|not specified [RCV000426241] ChrX:100407113 [GRCh38]
ChrX:99662111 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) single nucleotide variant not provided [RCV000429776] ChrX:100296372 [GRCh38]
ChrX:99551370 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) single nucleotide variant not provided [RCV000431864] ChrX:100407799 [GRCh38]
ChrX:99662797 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.648G>A (p.Pro216=) single nucleotide variant not specified [RCV000436899] ChrX:100407950 [GRCh38]
ChrX:99662948 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.117T>A (p.Ile39=) single nucleotide variant not provided [RCV000869898]|not specified [RCV000422998] ChrX:100408481 [GRCh38]
ChrX:99663479 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000458491]|not specified [RCV000440658] ChrX:100341961 [GRCh38]
ChrX:99596959 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=) single nucleotide variant not specified [RCV000420262] ChrX:100403589 [GRCh38]
ChrX:99658587 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=) single nucleotide variant not specified [RCV000433770] ChrX:100408547 [GRCh38]
ChrX:99663545 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2147+16C>T single nucleotide variant not specified [RCV000440907] ChrX:100406435 [GRCh38]
ChrX:99661433 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.328A>G (p.Met110Val) single nucleotide variant not provided [RCV000438972] ChrX:100408270 [GRCh38]
ChrX:99663268 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000862127]|not specified [RCV000423411] ChrX:100407800 [GRCh38]
ChrX:99662798 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=) single nucleotide variant not provided [RCV000865061]|not specified [RCV000426954] ChrX:100402782 [GRCh38]
ChrX:99657780 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000466833] ChrX:100402718 [GRCh38]
ChrX:99657716 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000470485] ChrX:100296604 [GRCh38]
ChrX:99551602 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.570_572dup (p.Val192dup) duplication not provided [RCV000479505] ChrX:100408025..100408026 [GRCh38]
ChrX:99663023..99663024 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) single nucleotide variant not provided [RCV000459442] ChrX:100406561 [GRCh38]
ChrX:99661559 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000467012] ChrX:100407191 [GRCh38]
ChrX:99662189 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000470577] ChrX:100407263 [GRCh38]
ChrX:99662261 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) single nucleotide variant not provided [RCV000471561] ChrX:100408433 [GRCh38]
ChrX:99663431 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) single nucleotide variant not provided [RCV000480425] ChrX:100341915 [GRCh38]
ChrX:99596913 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001088897]|not provided [RCV000595293] ChrX:100407164 [GRCh38]
ChrX:99662162 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000660225]|not provided [RCV000480627] ChrX:100407121 [GRCh38]
ChrX:99662119 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) single nucleotide variant not provided [RCV000475557] ChrX:100406627 [GRCh38]
ChrX:99661625 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000472022] ChrX:100407120 [GRCh38]
ChrX:99662118 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) deletion Early infantile epileptic encephalopathy 9 [RCV000475650] ChrX:100402799 [GRCh38]
ChrX:99657797 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000457160] ChrX:100296713 [GRCh38]
ChrX:99551711 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000476281]|not provided [RCV000480604] ChrX:100407891 [GRCh38]
ChrX:99662889 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2676-1_2683del deletion not provided [RCV000484556] ChrX:100342068..100342076 [GRCh38]
ChrX:99597066..99597074 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.92A>T (p.Glu31Val) single nucleotide variant not provided [RCV000485018] ChrX:100408506 [GRCh38]
ChrX:99663504 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.21_39del (p.Val8fs) deletion not provided [RCV000485234] ChrX:100408559..100408577 [GRCh38]
ChrX:99663557..99663575 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.128C>T (p.Ala43Val) single nucleotide variant not provided [RCV000478041] ChrX:100408470 [GRCh38]
ChrX:99663468 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1372T>C (p.Tyr458His) single nucleotide variant not provided [RCV000485418] ChrX:100407226 [GRCh38]
ChrX:99662224 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.295T>A (p.Cys99Ser) single nucleotide variant not provided [RCV000485618] ChrX:100408303 [GRCh38]
ChrX:99663301 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2501dup (p.Asn834fs) duplication not provided [RCV000478675] ChrX:100402638..100402639 [GRCh38]
ChrX:99657636..99657637 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) single nucleotide variant not provided [RCV000479158] ChrX:100407163 [GRCh38]
ChrX:99662161 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.-38del deletion not specified [RCV000482652] ChrX:100408635 [GRCh38]
ChrX:99663633 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) single nucleotide variant not specified [RCV000498791] ChrX:100407214 [GRCh38]
ChrX:99662212 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3077C>T (p.Pro1026Leu) single nucleotide variant not specified [RCV000503442] ChrX:100296647 [GRCh38]
ChrX:99551645 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.717C>G (p.Ser239Arg) single nucleotide variant not specified [RCV000503572] ChrX:100407881 [GRCh38]
ChrX:99662879 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=) single nucleotide variant not specified [RCV000501255] ChrX:100296319 [GRCh38]
ChrX:99551317 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=) single nucleotide variant not specified [RCV000499619] ChrX:100402710 [GRCh38]
ChrX:99657708 [GRCh37]
ChrX:Xq22.1
likely benign
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_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) single nucleotide variant not provided [RCV000497495] ChrX:100408189 [GRCh38]
ChrX:99663187 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2884C>T (p.Arg962Trp) single nucleotide variant not provided [RCV000498103] ChrX:100296840 [GRCh38]
ChrX:99551838 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) single nucleotide variant not provided [RCV000498327] ChrX:100296326 [GRCh38]
ChrX:99551324 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=) single nucleotide variant not specified [RCV000503157] ChrX:100407491 [GRCh38]
ChrX:99662489 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1478_1485del (p.Val493fs) deletion not provided [RCV000493740] ChrX:100407113..100407120 [GRCh38]
ChrX:99662111..99662118 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.878dup (p.His294fs) duplication not provided [RCV000493857] ChrX:100407719..100407720 [GRCh38]
ChrX:99662717..99662718 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001348836]|not provided [RCV000494063] ChrX:100407579 [GRCh38]
ChrX:99662577 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) single nucleotide variant not provided [RCV000494296] ChrX:100408229 [GRCh38]
ChrX:99663227 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.976_981delinsTTCCC (p.Ile326fs) indel not provided [RCV000494393] ChrX:100407617..100407622 [GRCh38]
ChrX:99662615..99662620 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1521del (p.Ile508fs) deletion not provided [RCV000494683] ChrX:100407077 [GRCh38]
ChrX:99662075 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq21.33-22.1(chrX:97026936-99973825)x3 copy number gain See cases [RCV000511720] ChrX:97026936..99973825 [GRCh37]
ChrX:Xq21.33-22.1
likely benign
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter) single nucleotide variant not provided [RCV000493071] ChrX:100408003 [GRCh38]
ChrX:99663001 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_001184880.2(PCDH19):c.896C>T (p.Thr299Ile) single nucleotide variant not specified [RCV000516694] ChrX:100407702 [GRCh38]
ChrX:99662700 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs) duplication Inborn genetic diseases [RCV000624219] ChrX:100407591..100407592 [GRCh38]
ChrX:99662589..99662590 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) indel Early infantile epileptic encephalopathy 9 [RCV000515722] ChrX:100408459..100408460 [GRCh38]
ChrX:99663457..99663458 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000526406] ChrX:100403557 [GRCh38]
ChrX:99658555 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000543874]|not specified [RCV000603551] ChrX:100296312 [GRCh38]
ChrX:99551310 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001064734]|not provided [RCV000517162] ChrX:100407465 [GRCh38]
ChrX:99662463 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000529603] ChrX:100408330 [GRCh38]
ChrX:99663328 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) deletion Early infantile epileptic encephalopathy 9 [RCV000534695] ChrX:100407150..100407156 [GRCh38]
ChrX:99662148..99662154 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000538675] ChrX:100407740 [GRCh38]
ChrX:99662738 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2616+19C>T single nucleotide variant not specified [RCV000606509] ChrX:100402505 [GRCh38]
ChrX:99657503 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=) single nucleotide variant not provided [RCV000995987]|not specified [RCV000607560] ChrX:100402542 [GRCh38]
ChrX:99657540 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641138] ChrX:100296345 [GRCh38]
ChrX:99551343 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=) single nucleotide variant not specified [RCV000602440] ChrX:100408058 [GRCh38]
ChrX:99663056 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2781T>C (p.Cys927=) single nucleotide variant not provided [RCV000871956]|not specified [RCV000612598] ChrX:100341970 [GRCh38]
ChrX:99596968 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000540831] ChrX:100402721 [GRCh38]
ChrX:99657719 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2607T>C (p.Pro869=) single nucleotide variant not specified [RCV000612805] ChrX:100402533 [GRCh38]
ChrX:99657531 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=) single nucleotide variant not specified [RCV000615914] ChrX:100408160 [GRCh38]
ChrX:99663158 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2767C>A (p.Arg923=) single nucleotide variant not specified [RCV000616702] ChrX:100341984 [GRCh38]
ChrX:99596982 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641127] ChrX:100407907 [GRCh38]
ChrX:99662905 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641139]|not provided [RCV001092884] ChrX:100407415 [GRCh38]
ChrX:99662413 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000528238] ChrX:100407752 [GRCh38]
ChrX:99662750 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001078712]|not provided [RCV000869129]|not specified [RCV000606412] ChrX:100296712 [GRCh38]
ChrX:99551710 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000795231]|not specified [RCV000614157] ChrX:100406898 [GRCh38]
ChrX:99661896 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_001184880.2(PCDH19):c.-42del deletion not specified [RCV000599751] ChrX:100408639 [GRCh38]
ChrX:99663637 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001055033]|not provided [RCV000732671]|not specified [RCV000604523] ChrX:100296759 [GRCh38]
ChrX:99551757 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=) single nucleotide variant not specified [RCV000603762] ChrX:100402680 [GRCh38]
ChrX:99657678 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001184880.2(PCDH19):c.927del (p.His310fs) deletion not provided [RCV000512823] ChrX:100407671 [GRCh38]
ChrX:99662669 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641130] ChrX:100406473 [GRCh38]
ChrX:99661471 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2263_2288+1dup duplication Early infantile epileptic encephalopathy 9 [RCV000641132] ChrX:100403522..100403523 [GRCh38]
ChrX:99658520..99658521 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000641145] ChrX:100296646 [GRCh38]
ChrX:99551644 [GRCh37]
ChrX:Xq22.1
likely benign
NC_000023.11:g.(?_100296257)_(100296895_?)del deletion Early infantile epileptic encephalopathy 9 [RCV000641146] ChrX:100296257..100296895 [GRCh38]
ChrX:99551255..99551893 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1697C>A (p.Pro566Gln) single nucleotide variant Inborn genetic diseases [RCV000622974] ChrX:100406901 [GRCh38]
ChrX:99661899 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1355A>C (p.His452Pro) single nucleotide variant not provided [RCV000513487] ChrX:100407243 [GRCh38]
ChrX:99662241 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.499G>T (p.Glu167Ter) single nucleotide variant not provided [RCV000657786] ChrX:100408099 [GRCh38]
ChrX:99663097 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000698180] ChrX:100296354 [GRCh38]
ChrX:99551352 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) single nucleotide variant not provided [RCV000658233] ChrX:100407699 [GRCh38]
ChrX:99662697 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) deletion Early infantile epileptic encephalopathy 9 [RCV000699394] ChrX:100407476..100407477 [GRCh38]
ChrX:99662474..99662475 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.684G>A (p.Val228=) single nucleotide variant not provided [RCV000659171] ChrX:100407914 [GRCh38]
ChrX:99662912 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.1(PCDH19):c.1657_2616+3340del deletion Early infantile epileptic encephalopathy 9 [RCV000685349] ChrX:100399184..100406941 [GRCh38]
ChrX:99654184..99661941 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) deletion Early infantile epileptic encephalopathy 9 [RCV000680057] ChrX:100406922 [GRCh38]
ChrX:99661920 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000680058] ChrX:100407679 [GRCh38]
ChrX:99662677 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001217909]|History of neurodevelopmental disorder [RCV000717159] ChrX:100408426 [GRCh38]
ChrX:99663424 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000685792] ChrX:100407680 [GRCh38]
ChrX:99662678 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719635] ChrX:100403578 [GRCh38]
ChrX:99658576 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_001184880.2(PCDH19):c.914A>G (p.Asp305Gly) single nucleotide variant Intractable status epilepticus [RCV000678824] ChrX:100407684 [GRCh38]
ChrX:99662682 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs) duplication Generalized tonic-clonic seizures [RCV000678822] ChrX:100408107..100408108 [GRCh38]
ChrX:99663105..99663106 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001184880.2(PCDH19):c.2122A>T (p.Lys708Ter) single nucleotide variant not provided [RCV000712507] ChrX:100406476 [GRCh38]
ChrX:99661474 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000700166] ChrX:100408540 [GRCh38]
ChrX:99663538 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000700910] ChrX:100407806 [GRCh38]
ChrX:99662804 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000694967] ChrX:100402832 [GRCh38]
ChrX:99657830 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.470A>C (p.Asp157Ala) single nucleotide variant not provided [RCV000712510] ChrX:100408128 [GRCh38]
ChrX:99663126 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000703106] ChrX:100350664 [GRCh38]
ChrX:99605662 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) deletion Early infantile epileptic encephalopathy 9 [RCV000703107] ChrX:100407769..100407771 [GRCh38]
ChrX:99662767..99662769 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000688878] ChrX:100407243 [GRCh38]
ChrX:99662241 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000705928] ChrX:100296383 [GRCh38]
ChrX:99551381 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000699544] ChrX:100406744 [GRCh38]
ChrX:99661742 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000685737] ChrX:100402661 [GRCh38]
ChrX:99657659 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000698231] ChrX:100408356 [GRCh38]
ChrX:99663354 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000698541] ChrX:100407256 [GRCh38]
ChrX:99662254 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000692795] ChrX:100296703 [GRCh38]
ChrX:99551701 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000707686] ChrX:100407306 [GRCh38]
ChrX:99662304 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000685944] ChrX:100407450 [GRCh38]
ChrX:99662448 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) indel Early infantile epileptic encephalopathy 9 [RCV000691800] ChrX:100406741..100406745 [GRCh38]
ChrX:99661739..99661743 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000700933] ChrX:100408507 [GRCh38]
ChrX:99663505 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000697135] ChrX:100296425 [GRCh38]
ChrX:99551423 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) duplication History of neurodevelopmental disorder [RCV000718695] ChrX:100407829..100407830 [GRCh38]
ChrX:99662827..99662828 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001218532]|History of neurodevelopmental disorder [RCV000720690] ChrX:100296287 [GRCh38]
ChrX:99551285 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720162] ChrX:100406734 [GRCh38]
ChrX:99661732 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719763] ChrX:100402582 [GRCh38]
ChrX:99657580 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718050] ChrX:100406850 [GRCh38]
ChrX:99661848 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.994del (p.Val332fs) deletion Early infantile epileptic encephalopathy 9 [RCV000820009]|History of neurodevelopmental disorder [RCV000720310] ChrX:100407604 [GRCh38]
ChrX:99662602 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000720352] ChrX:100408005 [GRCh38]
ChrX:99663003 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001216154]|History of neurodevelopmental disorder [RCV000720444] ChrX:100296567 [GRCh38]
ChrX:99551565 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) duplication History of neurodevelopmental disorder [RCV000720388] ChrX:100408224..100408225 [GRCh38]
ChrX:99663222..99663223 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990909]|History of neurodevelopmental disorder [RCV000720401] ChrX:100408100 [GRCh38]
ChrX:99663098 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) deletion Early infantile epileptic encephalopathy 9 [RCV000797290]|History of neurodevelopmental disorder [RCV000720403] ChrX:100407507 [GRCh38]
ChrX:99662505 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001058753]|History of neurodevelopmental disorder [RCV000720543] ChrX:100407604 [GRCh38]
ChrX:99662602 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000853589] ChrX:100407800 [GRCh38]
ChrX:99662798 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000758011] ChrX:100408136 [GRCh38]
ChrX:99663134 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs) deletion Early infantile epileptic encephalopathy 9 [RCV001043504] ChrX:100407781..100407782 [GRCh38]
ChrX:99662779..99662780 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.971del (p.Asn324fs) deletion Early infantile epileptic encephalopathy 9 [RCV000760237] ChrX:100407627 [GRCh38]
ChrX:99662625 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) single nucleotide variant not provided [RCV000762659] ChrX:100406917 [GRCh38]
ChrX:99661915 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.955A>T (p.Lys319Ter) single nucleotide variant not provided [RCV000760771] ChrX:100407643 [GRCh38]
ChrX:99662641 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) deletion Early infantile epileptic encephalopathy 9 [RCV000990897] ChrX:100296319..100296320 [GRCh38]
ChrX:99551317..99551318 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) duplication Early infantile epileptic encephalopathy 9 [RCV000990899] ChrX:100342053..100342054 [GRCh38]
ChrX:99597051..99597052 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001066952] ChrX:100407478 [GRCh38]
ChrX:99662476 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NC_000023.10:g.(?_99551255)_(99926004_?)dup duplication Early infantile epileptic encephalopathy 9 [RCV001031703] ChrX:99551255..99926004 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000869998] ChrX:100296404 [GRCh38]
ChrX:99551402 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=) single nucleotide variant not provided [RCV000946169] ChrX:100407236 [GRCh38]
ChrX:99662234 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000928188] ChrX:100406993 [GRCh38]
ChrX:99661991 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000875976] ChrX:100402740 [GRCh38]
ChrX:99657738 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000877079] ChrX:100407683 [GRCh38]
ChrX:99662681 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs) duplication Early infantile epileptic encephalopathy 9 [RCV001054864] ChrX:100406952..100406953 [GRCh38]
ChrX:99661950..99661951 [GRCh37]
ChrX:Xq22.1
pathogenic
NC_000023.11:g.(?_100402504)_(100408617_?)del deletion Early infantile epileptic encephalopathy 9 [RCV001032918] ChrX:99657502..99663615 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001037091] ChrX:100407326 [GRCh38]
ChrX:99662324 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001071171] ChrX:100403609 [GRCh38]
ChrX:99658607 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001049560] ChrX:100407225 [GRCh38]
ChrX:99662223 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001061919] ChrX:100402581 [GRCh38]
ChrX:99657579 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001061999] ChrX:100402624 [GRCh38]
ChrX:99657622 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs) insertion Early infantile epileptic encephalopathy 9 [RCV001053803] ChrX:100406696..100406697 [GRCh38]
ChrX:99661694..99661695 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001052229] ChrX:100407898 [GRCh38]
ChrX:99662896 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001047027] ChrX:100406485 [GRCh38]
ChrX:99661483 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) duplication Early infantile epileptic encephalopathy 9 [RCV001089723] ChrX:100402572..100402573 [GRCh38]
ChrX:99657570..99657571 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.687del (p.Asp230fs) deletion Early infantile epileptic encephalopathy 9 [RCV001060254] ChrX:100407911 [GRCh38]
ChrX:99662909 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=) single nucleotide variant not provided [RCV000995985] ChrX:100296700 [GRCh38]
ChrX:99551698 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn) single nucleotide variant not provided [RCV000995986] ChrX:100350646 [GRCh38]
ChrX:99605644 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2032T>G (p.Ser678Ala) single nucleotide variant not provided [RCV000995988] ChrX:100406566 [GRCh38]
ChrX:99661564 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001060718] ChrX:100407426 [GRCh38]
ChrX:99662424 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001047475] ChrX:100408116 [GRCh38]
ChrX:99663114 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000793687] ChrX:100408521 [GRCh38]
ChrX:99663519 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) deletion Early infantile epileptic encephalopathy 9 [RCV000792490]|not provided [RCV001009269] ChrX:100408466 [GRCh38]
ChrX:99663464 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000768279] ChrX:100408070 [GRCh38]
ChrX:99663068 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2676-6A>G single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000802921] ChrX:100342081 [GRCh38]
ChrX:99597079 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000861344] ChrX:100408559 [GRCh38]
ChrX:99663557 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000867194] ChrX:100408025 [GRCh38]
ChrX:99663023 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=) single nucleotide variant not provided [RCV000942652] ChrX:100406678 [GRCh38]
ChrX:99661676 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1952_1953CT[3] (p.Ser653fs) microsatellite Early infantile epileptic encephalopathy 9 [RCV000984505] ChrX:100406639..100406640 [GRCh38]
ChrX:99661637..99661638 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1002C>T (p.Val334=) single nucleotide variant not provided [RCV000874752] ChrX:100407596 [GRCh38]
ChrX:99662594 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.894C>T (p.Val298=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000920114] ChrX:100407704 [GRCh38]
ChrX:99662702 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3339C>G (p.Pro1113=) single nucleotide variant not provided [RCV000930101] ChrX:100296385 [GRCh38]
ChrX:99551383 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000868419] ChrX:100408436 [GRCh38]
ChrX:99663434 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=) single nucleotide variant not provided [RCV000869603] ChrX:100296496 [GRCh38]
ChrX:99551494 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000809475] ChrX:100408185 [GRCh38]
ChrX:99663183 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000810075] ChrX:100408212 [GRCh38]
ChrX:99663210 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.-119C>T single nucleotide variant not provided [RCV000832689] ChrX:100408716 [GRCh38]
ChrX:99663714 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000802867] ChrX:100296370 [GRCh38]
ChrX:99551368 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.1(PCDH19):c.79_2616+17371del deletion Early infantile epileptic encephalopathy 9 [RCV000818621] ChrX:100385153..100408519 [GRCh38]
ChrX:Xq22.1
likely pathogenic
NC_000023.11:g.(?_100296257)_(100342095_?)del deletion Early infantile epileptic encephalopathy 9 [RCV000823235] ChrX:100296257..100342095 [GRCh38]
ChrX:99551255..99597093 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000809875] ChrX:100296687 [GRCh38]
ChrX:99551685 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=) single nucleotide variant not provided [RCV000842278] ChrX:100406996 [GRCh38]
ChrX:99661994 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=) single nucleotide variant not provided [RCV000869554] ChrX:100296415 [GRCh38]
ChrX:99551413 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000815155] ChrX:100296369 [GRCh38]
ChrX:99551367 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000805019] ChrX:100407493 [GRCh38]
ChrX:99662491 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000805127] ChrX:100350650 [GRCh38]
ChrX:99605648 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=) single nucleotide variant not provided [RCV000937424] ChrX:100402695 [GRCh38]
ChrX:99657693 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000818186] ChrX:100407981 [GRCh38]
ChrX:99662979 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1612G>A (p.Gly538Ser) single nucleotide variant not provided [RCV000838533] ChrX:100406986 [GRCh38]
ChrX:99661984 [GRCh37]
ChrX:Xq22.1
likely benign
NC_000023.11:g.(?_100296257)_(100408617_?)del deletion Early infantile epileptic encephalopathy 9 [RCV000809991] ChrX:100296257..100408617 [GRCh38]
ChrX:99551255..99663615 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2617-1G>A single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000802924] ChrX:100350705 [GRCh38]
ChrX:99605703 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000816992] ChrX:100408238 [GRCh38]
ChrX:99663236 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000802161] ChrX:100407567 [GRCh38]
ChrX:99662565 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000803969] ChrX:100408063 [GRCh38]
ChrX:99663061 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990902] ChrX:100406660 [GRCh38]
ChrX:99661658 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990905] ChrX:100407156 [GRCh38]
ChrX:99662154 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000815526] ChrX:100406843 [GRCh38]
ChrX:99661841 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000809498] ChrX:100341938 [GRCh38]
ChrX:99596936 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2616+1G>A single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000813959] ChrX:100402523 [GRCh38]
ChrX:99657521 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2 copy number gain not provided [RCV000848726] ChrX:98987165..100421459 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=) single nucleotide variant not provided [RCV000828327] ChrX:100407806 [GRCh38]
ChrX:99662804 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) deletion Early infantile epileptic encephalopathy 9 [RCV000790437] ChrX:100406916 [GRCh38]
ChrX:99661914 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92939446-99556731)x1 copy number loss not provided [RCV000846976] ChrX:92939446..99556731 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000807831] ChrX:100296849 [GRCh38]
ChrX:99551847 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2616+191G>T single nucleotide variant not provided [RCV000832319] ChrX:100402333 [GRCh38]
ChrX:99657331 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.2676-218C>T single nucleotide variant not provided [RCV000826567] ChrX:100342293 [GRCh38]
ChrX:99597291 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000798676] ChrX:100296732 [GRCh38]
ChrX:99551730 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000822182] ChrX:100407853 [GRCh38]
ChrX:99662851 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NC_000023.11:g.100410287G>A single nucleotide variant not provided [RCV000829750] ChrX:100410287 [GRCh38]
ChrX:99665285 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000812214] ChrX:100296450 [GRCh38]
ChrX:99551448 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000792313] ChrX:100402660 [GRCh38]
ChrX:99657658 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990903] ChrX:100406673 [GRCh38]
ChrX:99661671 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) deletion Early infantile epileptic encephalopathy 9 [RCV000990910] ChrX:100408306..100408338 [GRCh38]
ChrX:99663304..99663336 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=) single nucleotide variant not provided [RCV000941738] ChrX:100407155 [GRCh38]
ChrX:99662153 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000806891] ChrX:100402650 [GRCh38]
ChrX:99657648 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000806933] ChrX:100407050 [GRCh38]
ChrX:99662048 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000821479]|Non-ketotic hyperglycinemia [RCV001199420] ChrX:100407799 [GRCh38]
ChrX:99662797 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000821586] ChrX:100403590 [GRCh38]
ChrX:99658588 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) deletion Early infantile epileptic encephalopathy 9 [RCV000802351] ChrX:100407928 [GRCh38]
ChrX:99662926 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000939839] ChrX:100296748 [GRCh38]
ChrX:99551746 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000790388] ChrX:100407456 [GRCh38]
ChrX:99662454 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000819108] ChrX:100407874 [GRCh38]
ChrX:99662872 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) deletion Early infantile epileptic encephalopathy 9 [RCV000806239] ChrX:100296476 [GRCh38]
ChrX:99551474 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=) single nucleotide variant not provided [RCV000960664] ChrX:100407968 [GRCh38]
ChrX:99662966 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001327853]|not provided [RCV000838614] ChrX:100296416 [GRCh38]
ChrX:99551414 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NC_000023.11:g.100410335C>G single nucleotide variant not provided [RCV000829749] ChrX:100410335 [GRCh38]
ChrX:99665333 [GRCh37]
ChrX:Xq22.1
benign
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001067355] ChrX:100407140 [GRCh38]
ChrX:99662138 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.11:g.(?_100402504)_(100402871_?)del deletion Early infantile epileptic encephalopathy 9 [RCV001032501] ChrX:99657502..99657869 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) deletion Early infantile epileptic encephalopathy 9 [RCV000990906] ChrX:100407426 [GRCh38]
ChrX:99662424 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990907] ChrX:100407639 [GRCh38]
ChrX:99662637 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV000990908] ChrX:100407661 [GRCh38]
ChrX:99662659 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) deletion Early infantile epileptic encephalopathy 9 [RCV000990911] ChrX:100408463..100408464 [GRCh38]
ChrX:99663461..99663462 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.49_62del (p.Thr17fs) deletion not provided [RCV001009089] ChrX:100408536..100408549 [GRCh38]
ChrX:99663534..99663547 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001066474] ChrX:100408179 [GRCh38]
ChrX:99663177 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001194605] ChrX:100407445 [GRCh38]
ChrX:99662443 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_001184880.2(PCDH19):c.1448del (p.Gly483fs) deletion not provided [RCV001008264] ChrX:100407150 [GRCh38]
ChrX:99662148 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199426] ChrX:100406926 [GRCh38]
ChrX:99661924 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001248634] ChrX:100296303 [GRCh38]
ChrX:99551301 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del) deletion Early infantile epileptic encephalopathy 9 [RCV001208182] ChrX:100406782..100406790 [GRCh38]
ChrX:99661780..99661788 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001238999] ChrX:100406459 [GRCh38]
ChrX:99661457 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001231311] ChrX:100407256 [GRCh38]
ChrX:99662254 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del) microsatellite Early infantile epileptic encephalopathy 9 [RCV001223990] ChrX:100407893..100407895 [GRCh38]
ChrX:99662891..99662893 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001233401] ChrX:100408195 [GRCh38]
ChrX:99663193 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs) deletion Early infantile epileptic encephalopathy 9 [RCV001220917] ChrX:100407453 [GRCh38]
ChrX:99662451 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001234420] ChrX:100402826 [GRCh38]
ChrX:99657824 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001205306] ChrX:100407945 [GRCh38]
ChrX:99662943 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001220695] ChrX:100402591 [GRCh38]
ChrX:99657589 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.476del (p.Gly159fs) deletion Early infantile epileptic encephalopathy 9 [RCV001220445] ChrX:100408122 [GRCh38]
ChrX:99663120 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs) duplication Early infantile epileptic encephalopathy 9 [RCV001231976] ChrX:100407425..100407426 [GRCh38]
ChrX:99662423..99662424 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs) deletion Early infantile epileptic encephalopathy 9 [RCV001223289] ChrX:100407188 [GRCh38]
ChrX:99662186 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001242738] ChrX:100407919 [GRCh38]
ChrX:99662917 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001238385] ChrX:100407946 [GRCh38]
ChrX:99662944 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001222069] ChrX:100402618 [GRCh38]
ChrX:99657616 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001210606] ChrX:100296869 [GRCh38]
ChrX:99551867 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001224481] ChrX:100408084 [GRCh38]
ChrX:99663082 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001213098] ChrX:100408228 [GRCh38]
ChrX:99663226 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001322494]|Non-ketotic hyperglycinemia [RCV001199427] ChrX:100407129 [GRCh38]
ChrX:99662127 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001236435] ChrX:100407030 [GRCh38]
ChrX:99662028 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) deletion Early infantile epileptic encephalopathy 9 [RCV000990900]|not provided [RCV001268089] ChrX:100350697 [GRCh38]
ChrX:99605695 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) deletion Early infantile epileptic encephalopathy 9 [RCV000990904] ChrX:100406975 [GRCh38]
ChrX:99661973 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq22.1(chrX:99430457-100047314)x1 copy number loss not provided [RCV000845838] ChrX:99430457..100047314 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.219C>G (p.Asp73Glu) single nucleotide variant Periventricular nodular heterotopia and epilepsy [RCV001199410] ChrX:100408379 [GRCh38]
ChrX:99663377 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199419] ChrX:100407819 [GRCh38]
ChrX:99662817 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199425] ChrX:100406638 [GRCh38]
ChrX:99661636 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs) indel Early infantile epileptic encephalopathy 9 [RCV001247771] ChrX:100406958 [GRCh38]
ChrX:99661956 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs) deletion Early infantile epileptic encephalopathy 9 [RCV001201946] ChrX:100408204..100408214 [GRCh38]
ChrX:99663202..99663212 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001198502] ChrX:100407562 [GRCh38]
ChrX:99662560 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=) single nucleotide variant not provided [RCV000932371] ChrX:100406762 [GRCh38]
ChrX:99661760 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.2895C>T (p.Gly965=) single nucleotide variant not provided [RCV000870287] ChrX:100296829 [GRCh38]
ChrX:99551827 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.594C>G (p.Arg198=) single nucleotide variant not provided [RCV000937076] ChrX:100408004 [GRCh38]
ChrX:99663002 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.564C>T (p.Ala188=) single nucleotide variant not provided [RCV000980422] ChrX:100408034 [GRCh38]
ChrX:99663032 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) single nucleotide variant not provided [RCV000961245] ChrX:100408412 [GRCh38]
ChrX:99663410 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs) deletion Early infantile epileptic encephalopathy 9 [RCV001222059] ChrX:100407115..100407119 [GRCh38]
ChrX:99662113..99662117 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199424] ChrX:100406679 [GRCh38]
ChrX:99661677 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001049961] ChrX:100402759 [GRCh38]
ChrX:99657757 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2675+2dup duplication Complex febrile seizures [RCV001089582] ChrX:100350643..100350644 [GRCh38]
ChrX:99605641..99605642 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) deletion Early infantile epileptic encephalopathy 9 [RCV001089698] ChrX:100407751..100407778 [GRCh38]
ChrX:99662749..99662776 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001089699] ChrX:100342011 [GRCh38]
ChrX:99597009 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001089700] ChrX:100407049 [GRCh38]
ChrX:99662047 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) duplication Early infantile epileptic encephalopathy 9 [RCV001089724] ChrX:100406878..100406879 [GRCh38]
ChrX:99661876..99661877 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.615del (p.Phe206fs) deletion Early infantile epileptic encephalopathy 9 [RCV001089726] ChrX:100407983 [GRCh38]
ChrX:99662981 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.581del (p.Lys194fs) deletion Early infantile epileptic encephalopathy 9 [RCV001244998] ChrX:100408017 [GRCh38]
ChrX:99663015 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001247902] ChrX:100406902 [GRCh38]
ChrX:99661900 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3070_3073dup (p.His1025fs) duplication Seizures [RCV001201165] ChrX:100296650..100296651 [GRCh38]
ChrX:99551648..99551649 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del) deletion Early infantile epileptic encephalopathy 9 [RCV001203725] ChrX:100408085..100408108 [GRCh38]
ChrX:99663083..99663106 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1505_1554del (p.Val502fs) deletion not provided [RCV001092882] ChrX:100407044..100407093 [GRCh38]
ChrX:99662042..99662091 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.564C>A (p.Ala188=) single nucleotide variant not provided [RCV001092886] ChrX:100408034 [GRCh38]
ChrX:99663032 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001227636] ChrX:100408344 [GRCh38]
ChrX:99663342 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001243814] ChrX:100350678 [GRCh38]
ChrX:99605676 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2289-2A>G single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001065358]|not provided [RCV001289114] ChrX:100402853 [GRCh38]
ChrX:99657851 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.244dup (p.Val82fs) duplication Early infantile epileptic encephalopathy 9 [RCV001234629] ChrX:100408353..100408354 [GRCh38]
ChrX:99663351..99663352 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001227664] ChrX:100402653 [GRCh38]
ChrX:99657651 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001227718] ChrX:100406928 [GRCh38]
ChrX:99661926 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.11:g.(?_100296257)_(100408617_?)dup duplication Early infantile epileptic encephalopathy 9 [RCV001031616] ChrX:99551255..99663615 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001235301] ChrX:100407433 [GRCh38]
ChrX:99662431 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup) duplication Early infantile epileptic encephalopathy 9 [RCV001228099] ChrX:100296287..100296288 [GRCh38]
ChrX:99551285..99551286 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) duplication Early infantile epileptic encephalopathy 9 [RCV000990901]|Inborn genetic diseases [RCV001266326] ChrX:100402798..100402799 [GRCh38]
ChrX:99657796..99657797 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001089725]|not provided [RCV001008024] ChrX:100408033 [GRCh38]
ChrX:99663031 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.647del (p.Pro216fs) deletion not provided [RCV001008502] ChrX:100407951 [GRCh38]
ChrX:99662949 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1078G>C (p.Glu360Gln) single nucleotide variant not provided [RCV001092885] ChrX:100407520 [GRCh38]
ChrX:99662518 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001071081] ChrX:100407084 [GRCh38]
ChrX:99662082 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) indel Early infantile epileptic encephalopathy 9 [RCV001089701] ChrX:100406625 [GRCh38]
ChrX:99661623 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2553_2554CT[1] (p.Ser852fs) microsatellite Early infantile epileptic encephalopathy 9 [RCV001089900] ChrX:100402584..100402585 [GRCh38]
ChrX:99657582..99657583 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001047647] ChrX:100296384 [GRCh38]
ChrX:99551382 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) single nucleotide variant not provided [RCV001092887] ChrX:100408398 [GRCh38]
ChrX:99663396 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001047468] ChrX:100407298 [GRCh38]
ChrX:99662296 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.745del (p.Glu249fs) deletion Early infantile epileptic encephalopathy 9 [RCV001004683] ChrX:100407853 [GRCh38]
ChrX:99662851 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1495G>T (p.Asp499Tyr) single nucleotide variant Refractory epilepsy with Lennox Gastaut syndrome [RCV001199412] ChrX:100407103 [GRCh38]
ChrX:99662101 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199418] ChrX:100407996 [GRCh38]
ChrX:99662994 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001056182] ChrX:100296383 [GRCh38]
ChrX:99551381 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001041816]|Intellectual disability [RCV001257661] ChrX:100407808 [GRCh38]
ChrX:99662806 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs) duplication Early infantile epileptic encephalopathy 9 [RCV001068713] ChrX:100402665..100402666 [GRCh38]
ChrX:99657663..99657664 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001197629] ChrX:100407529 [GRCh38]
ChrX:99662527 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001229588] ChrX:100408434 [GRCh38]
ChrX:99663432 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001247439] ChrX:100406584 [GRCh38]
ChrX:99661582 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001203924] ChrX:100407696 [GRCh38]
ChrX:99662694 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001218941] ChrX:100407711 [GRCh38]
ChrX:99662709 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys) single nucleotide variant Non-lesional parietal lobe epilepsy [RCV001199415] ChrX:100407774 [GRCh38]
ChrX:99662772 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) deletion Early infantile epileptic encephalopathy 9 [RCV001089697] ChrX:100402581..100402584 [GRCh38]
ChrX:99657579..99657582 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001050573] ChrX:100296363 [GRCh38]
ChrX:99551361 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001052975] ChrX:100341984 [GRCh38]
ChrX:99596982 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs) deletion Early infantile epileptic encephalopathy 9 [RCV001004695] ChrX:100407392 [GRCh38]
ChrX:99662390 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001057347] ChrX:100296300 [GRCh38]
ChrX:99551298 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.533del (p.Ile178fs) deletion Early infantile epileptic encephalopathy 9 [RCV001039181] ChrX:100408065 [GRCh38]
ChrX:99663063 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001039440] ChrX:100406812 [GRCh38]
ChrX:99661810 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001220105] ChrX:100407892 [GRCh38]
ChrX:99662890 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2676-10T>G single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001053929] ChrX:100342085 [GRCh38]
ChrX:99597083 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001039975] ChrX:100407558 [GRCh38]
ChrX:99662556 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.659del (p.Gly220fs) deletion Early infantile epileptic encephalopathy 9 [RCV001235273] ChrX:100407939 [GRCh38]
ChrX:99662937 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001218248] ChrX:100341997 [GRCh38]
ChrX:99596995 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs) microsatellite Early infantile epileptic encephalopathy 9 [RCV001235367] ChrX:100407445..100407446 [GRCh38]
ChrX:99662443..99662444 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.564del (p.Glu189fs) deletion Early infantile epileptic encephalopathy 9 [RCV001204207] ChrX:100408034 [GRCh38]
ChrX:99663032 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001210680] ChrX:100408254 [GRCh38]
ChrX:99663252 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001218626] ChrX:100406959 [GRCh38]
ChrX:99661957 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001070487] ChrX:100402753 [GRCh38]
ChrX:99657751 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer) deletion Early infantile epileptic encephalopathy 9 [RCV001250740] ChrX:100408513 [GRCh38]
ChrX:99663511 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001236522] ChrX:100403625 [GRCh38]
ChrX:99658623 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2676-8C>A single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001059787] ChrX:100342083 [GRCh38]
ChrX:99597081 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001053951] ChrX:100402639 [GRCh38]
ChrX:99657637 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001049756] ChrX:100402628 [GRCh38]
ChrX:99657626 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.81C>G (p.Tyr27Ter) single nucleotide variant not provided [RCV001092888] ChrX:100408517 [GRCh38]
ChrX:99663515 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199421] ChrX:100407475 [GRCh38]
ChrX:99662473 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala) single nucleotide variant Non-ketotic hyperglycinemia [RCV001199423] ChrX:100406788 [GRCh38]
ChrX:99661786 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001071976] ChrX:100408219 [GRCh38]
ChrX:99663217 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs) deletion not provided [RCV001008861] ChrX:100407307..100407310 [GRCh38]
ChrX:99662305..99662308 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001040733] ChrX:100296852 [GRCh38]
ChrX:99551850 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs) duplication Early infantile epileptic encephalopathy 9 [RCV001041094] ChrX:100408126..100408127 [GRCh38]
ChrX:99663124..99663125 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001210744] ChrX:100406733 [GRCh38]
ChrX:99661731 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.10:g.(?_99551255)_(99905882_?)del deletion Early infantile epileptic encephalopathy 9 [RCV001033048] ChrX:99551255..99905882 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001056266] ChrX:100408542 [GRCh38]
ChrX:99663540 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001231120] ChrX:100406853 [GRCh38]
ChrX:99661851 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001233479] ChrX:100408236 [GRCh38]
ChrX:99663234 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001063090] ChrX:100407469 [GRCh38]
ChrX:99662467 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001211233] ChrX:100406794 [GRCh38]
ChrX:99661792 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001228624] ChrX:100407060 [GRCh38]
ChrX:99662058 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001211167] ChrX:100408161 [GRCh38]
ChrX:99663159 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001262462]|Intellectual disability [RCV001255348] ChrX:100408153 [GRCh38]
ChrX:99663151 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001252989] ChrX:100402775 [GRCh38]
ChrX:99657773 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001253382] ChrX:100402541 [GRCh38]
ChrX:99657539 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) duplication Early infantile epileptic encephalopathy 9 [RCV001253589] ChrX:100407743..100407744 [GRCh38]
ChrX:99662741..99662742 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001252103] ChrX:100407255 [GRCh38]
ChrX:99662253 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) duplication Early infantile epileptic encephalopathy 9 [RCV001253439] ChrX:100296666..100296667 [GRCh38]
ChrX:99551664..99551665 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001253378] ChrX:100402664 [GRCh38]
ChrX:99657662 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99581496-100047228)x2 copy number gain not provided [RCV001259487] ChrX:99581496..100047228 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001262457] ChrX:100402842 [GRCh38]
ChrX:99657840 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001260930] ChrX:100406679 [GRCh38]
ChrX:99661677 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001293853] ChrX:100407972 [GRCh38]
ChrX:99662970 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1693G>C (p.Ala565Pro) single nucleotide variant not provided [RCV001267990] ChrX:100406905 [GRCh38]
ChrX:99661903 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001184880.2(PCDH19):c.1841T>G (p.Phe614Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001307075] ChrX:100406757 [GRCh38]
ChrX:99661755 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001339325] ChrX:100407789 [GRCh38]
ChrX:99662787 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001314479] ChrX:100407787 [GRCh38]
ChrX:99662785 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001291527] ChrX:100408135 [GRCh38]
ChrX:99663133 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001299594] ChrX:100350674 [GRCh38]
ChrX:99605672 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.722C>A (p.Ser241Tyr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001308468] ChrX:100407876 [GRCh38]
ChrX:99662874 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2401G>A (p.Val801Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001321355] ChrX:100402739 [GRCh38]
ChrX:99657737 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001318419] ChrX:100407676 [GRCh38]
ChrX:99662674 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001337579] ChrX:100407960 [GRCh38]
ChrX:99662958 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2616+3G>A single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001298457] ChrX:100402521 [GRCh38]
ChrX:99657519 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001296149] ChrX:100407322 [GRCh38]
ChrX:99662320 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001325869] ChrX:100296340 [GRCh38]
ChrX:99551338 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001298321] ChrX:100296483 [GRCh38]
ChrX:99551481 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001331632] ChrX:100407922 [GRCh38]
ChrX:99662920 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe) indel Early infantile epileptic encephalopathy 9 [RCV001346311] ChrX:100406958..100406959 [GRCh38]
ChrX:99661956..99661957 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001344741] ChrX:100406480 [GRCh38]
ChrX:99661478 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001343781] ChrX:100406946 [GRCh38]
ChrX:99661944 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001320226] ChrX:100296722 [GRCh38]
ChrX:99551720 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001321821] ChrX:100407072 [GRCh38]
ChrX:99662070 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2252A>G (p.Lys751Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001318863] ChrX:100403560 [GRCh38]
ChrX:99658558 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3270A>C (p.Pro1090=) single nucleotide variant not provided [RCV001310741] ChrX:100296454 [GRCh38]
ChrX:99551452 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001320625] ChrX:100407513 [GRCh38]
ChrX:99662511 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001320718] ChrX:100408153 [GRCh38]
ChrX:99663151 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001324385] ChrX:100296678 [GRCh38]
ChrX:99551676 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001350410] ChrX:100407358 [GRCh38]
ChrX:99662356 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001308133] ChrX:100341956 [GRCh38]
ChrX:99596954 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001309043] ChrX:100407501 [GRCh38]
ChrX:99662499 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001321175] ChrX:100406866 [GRCh38]
ChrX:99661864 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001322578] ChrX:100296533 [GRCh38]
ChrX:99551531 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001323634] ChrX:100406916 [GRCh38]
ChrX:99661914 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001331631] ChrX:100407373 [GRCh38]
ChrX:99662371 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1081_1094del (p.Ser361fs) deletion Seizures [RCV001328533] ChrX:100407504..100407517 [GRCh38]
ChrX:99662502..99662515 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001298996] ChrX:100407910 [GRCh38]
ChrX:99662908 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001314100] ChrX:100406987 [GRCh38]
ChrX:99661985 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001184880.2(PCDH19):c.2274C>A (p.Ser758Arg) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001309893] ChrX:100403538 [GRCh38]
ChrX:99658536 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.2477G>A (p.Arg826His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001319003] ChrX:100402663 [GRCh38]
ChrX:99657661 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.958G>C (p.Asp320His) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001338830] ChrX:100407640 [GRCh38]
ChrX:99662638 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001327659] ChrX:100407619 [GRCh38]
ChrX:99662617 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001349289] ChrX:100406914 [GRCh38]
ChrX:99661912 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001184880.2(PCDH19):c.1438C>T (p.Pro480Ser) single nucleotide variant Early infantile epileptic encephalopathy 9 [RCV001306218] ChrX:100407160 [GRCh38]
ChrX:99662158 [GRCh37]
ChrX:Xq22.1
uncertain significance