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:14270
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in developmental and epileptic encephalopathy 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X100,291,644 - 100,410,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX100,291,644 - 100,410,273 (-)EnsemblGRCh38hg38GRCh38
GRCh37X99,546,642 - 99,665,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,433,298 - 99,551,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X99,352,786 - 99,468,297NCBI
CeleraX100,067,096 - 100,185,714 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX89,347,660 - 89,465,802 (-)NCBIHuRef
CHM1_1X99,439,320 - 99,557,952 (-)NCBICHM1_1
T2T-CHM13v2.0X98,734,021 - 98,852,681 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral morphology  (IAGP)
Abnormal eating behavior  (IAGP)
Abnormal social behavior  (IAGP)
Action tremor  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Bradykinesia  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cognitive impairment  (IAGP)
Cogwheel rigidity  (IAGP)
Complex febrile seizure  (IAGP)
Compulsive behaviors  (IAGP)
Convulsive status epilepticus  (IAGP)
Cyanotic episode  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Drooling  (IAGP)
Dysgenesis of the hippocampus  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
EEG with generalized epileptiform discharges  (IAGP)
Epilepsia partialis continua  (IAGP)
Epileptic encephalopathy  (IAGP)
Facial tics  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Focal aware seizure  (IAGP)
Focal hemiclonic seizure  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal sensory seizure with cephalic sensation  (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)
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)
Interictal epileptiform activity  (IAGP)
Limited knee extension  (IAGP)
Limited neck range of motion  (IAGP)
Long palpebral fissure  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonus  (IAGP)
Neurodevelopmental delay  (IAGP)
Nonketotic hyperglycinemia  (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)
Rigidity  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Sleep abnormality  (IAGP)
Status epilepticus  (IAGP)
Status epilepticus without prominent motor symptoms  (IAGP)
Strabismus  (IAGP)
Temporal cortical atrophy  (IAGP)
Tibial torsion  (IAGP)
Ventriculomegaly  (IAGP)
X-linked inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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:31871319   PMID:32062451   PMID:32105270   PMID:32314541   PMID:32366910   PMID:32852734   PMID:33087045   PMID:33262389  
PMID:33937968   PMID:33961781   PMID:34079125   PMID:34331950   PMID:34520737   PMID:34709727   PMID:35393670   PMID:35613587   PMID:35978409   PMID:36408521   PMID:36976175   PMID:36980870  
PMID:38238304   PMID:38891919  


Genomics

Comparative Map Data
PCDH19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X100,291,644 - 100,410,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX100,291,644 - 100,410,273 (-)EnsemblGRCh38hg38GRCh38
GRCh37X99,546,642 - 99,665,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,433,298 - 99,551,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X99,352,786 - 99,468,297NCBI
CeleraX100,067,096 - 100,185,714 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX89,347,660 - 89,465,802 (-)NCBIHuRef
CHM1_1X99,439,320 - 99,557,952 (-)NCBICHM1_1
T2T-CHM13v2.0X98,734,021 - 98,852,681 (-)NCBIT2T-CHM13v2.0
Pcdh19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X132,483,609 - 132,589,802 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX132,483,609 - 132,589,736 (-)EnsemblGRCm39 Ensembl
GRCm38X133,582,860 - 133,689,044 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX133,582,860 - 133,688,987 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,117,399 - 130,223,532 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X128,933,367 - 129,035,343 (-)NCBIMGSCv36mm8
CeleraX116,456,789 - 116,562,258 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX55.21NCBI
Pcdh19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X101,061,002 - 101,166,777 (-)NCBIGRCr8
mRatBN7.2X96,767,686 - 96,873,477 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX96,771,947 - 96,873,524 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX98,446,113 - 98,545,930 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X101,955,888 - 102,055,706 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X99,460,081 - 99,559,883 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X104,387,346 - 104,493,914 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX104,391,607 - 104,493,757 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X104,230,786 - 104,335,207 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,108,772 - 121,209,099 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X99,901,156 - 100,018,434 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X99,904,761 - 100,022,039 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X89,504,404 - 89,622,354 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X99,643,595 - 99,759,631 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX99,643,595 - 99,759,631 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX75,594,295 - 75,727,552 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X73,151,338 - 73,289,267 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X74,820,721 - 74,958,753 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X74,582,488 - 74,720,481 (-)NCBIUU_Cfam_GSD_1.0
Pcdh19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,884,867 - 63,984,266 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365845,568,728 - 5,668,116 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365845,568,740 - 5,668,095 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCDH19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,036,199 - 82,151,652 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X88,613,546 - 88,730,740 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX88,616,743 - 88,730,519 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606513,547,408 - 13,659,207 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcdh19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249022,354,856 - 2,502,527 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249022,354,109 - 2,502,478 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PCDH19
1068 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) single nucleotide variant Developmental and 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.209_210del (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 Developmental and epileptic encephalopathy, 9 [RCV001419244]|Inborn genetic diseases [RCV002438374] 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001857916]|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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000641129] ChrX:100402749 [GRCh38]
ChrX:99657747 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) duplication Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000011765] ChrX:100406586 [GRCh38]
ChrX:99661584 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) duplication Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000011767] ChrX:100408456 [GRCh38]
ChrX:99663454 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) duplication Developmental and epileptic encephalopathy, 9 [RCV000011768] ChrX:100407557..100407558 [GRCh38]
ChrX:99662555..99662556 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000011769] ChrX:100406927 [GRCh38]
ChrX:99661925 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001206419]|not provided [RCV000521658] ChrX:100408182 [GRCh38]
ChrX:99663180 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|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 Developmental and 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 Developmental and 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 Developmental and 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 and epileptic encephalopathy, 9 [RCV002525115]|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 Developmental and epileptic encephalopathy, 9 [RCV001383904]|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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000227839]|Inborn genetic diseases [RCV002313761]|not provided [RCV004713194]|not specified [RCV000079602] ChrX:100407461 [GRCh38]
ChrX:99662459 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000600298]|Inborn genetic diseases [RCV002311586]|not provided [RCV001538600]|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 Developmental and epileptic encephalopathy, 9 [RCV000147072]|Inborn genetic diseases [RCV002313762]|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 Developmental and epileptic encephalopathy, 9 [RCV001082647]|Inborn genetic diseases [RCV002311587]|not provided [RCV000712508]|not specified [RCV000079605] ChrX:100402671 [GRCh38]
ChrX:99657669 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000641140]|Inborn genetic diseases [RCV002316235]|PCDH19-related disorder [RCV003952500]|not provided [RCV001537807]|not specified [RCV000188321] ChrX:100296489 [GRCh38]
ChrX:99551487 [GRCh37]
ChrX:Xq22.1		 benign|likely benign|uncertain significance
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656077]|Developmental and epileptic encephalopathy, 9 [RCV000147080]|Inborn genetic diseases [RCV002316236]|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 Developmental and epileptic encephalopathy, 9 [RCV001064429]|not provided [RCV000079608] ChrX:100408224 [GRCh38]
ChrX:99663222 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001510461]|Inborn genetic diseases [RCV002311588]|not provided [RCV004713195]|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 Developmental and epileptic encephalopathy, 9 [RCV000465730]|Inborn genetic diseases [RCV002313763]|PCDH19-related disorder [RCV003925049]|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 Developmental and epileptic encephalopathy, 9 [RCV000473000]|Inborn genetic diseases [RCV002311589]|not provided [RCV004703216]|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 Developmental and epileptic encephalopathy, 9 [RCV000234669]|Inborn genetic diseases [RCV002311590]|not provided [RCV001711229]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000463342]|Inborn genetic diseases [RCV002312911]|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 Developmental and epileptic encephalopathy, 9 [RCV001079305]|Inborn genetic diseases [RCV002312581]|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 Developmental and epileptic encephalopathy, 9 [RCV001410324]|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 Developmental and epileptic encephalopathy, 9 [RCV000457399]|Inborn genetic diseases [RCV002312912]|not provided [RCV001573441]|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 Developmental and epileptic encephalopathy, 9 [RCV002514682]|not provided [RCV004567071]|not specified [RCV000127336] ChrX:100296373 [GRCh38]
ChrX:99551371 [GRCh37]
ChrX:Xq22.1		 benign|likely 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 Developmental and epileptic encephalopathy, 9 [RCV000230678]|Inborn genetic diseases [RCV002316391]|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 Developmental and epileptic encephalopathy, 9 [RCV000477486]|Inborn genetic diseases [RCV002371967]|PCDH19-related disorder [RCV003905212]|not specified [RCV000127341] ChrX:100407881 [GRCh38]
ChrX:99662879 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000456563]|Inborn genetic diseases [RCV002312913]|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 Developmental and epileptic encephalopathy, 9 [RCV001494229]|Inborn genetic diseases [RCV002399501]|not specified [RCV000127344] ChrX:100406954 [GRCh38]
ChrX:99661952 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001079957]|Inborn genetic diseases [RCV002399502]|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 Developmental and epileptic encephalopathy, 9 [RCV000233996]|Inborn genetic diseases [RCV002312582]|PCDH19-related disorder [RCV003935201]|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 Developmental and epileptic encephalopathy, 9 [RCV000533404]|Inborn genetic diseases [RCV002453637]|PCDH19-related disorder [RCV004752781]|not provided [RCV001538461]|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 Developmental and epileptic encephalopathy, 9 [RCV002054045]|not provided [RCV000173237] ChrX:100407197 [GRCh38]
ChrX:99662195 [GRCh37]
ChrX:Xq22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) single nucleotide variant not provided [RCV000173239]|not specified [RCV004689651] ChrX:100408370 [GRCh38]
ChrX:99663368 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001317304]|Inborn genetic diseases [RCV002516580]|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 Developmental and epileptic encephalopathy, 9 [RCV001080644]|Inborn genetic diseases [RCV002316987]|PCDH19-related disorder [RCV003907550]|not provided [RCV000762660]|not specified [RCV000188361] ChrX:100407829 [GRCh38]
ChrX:99662827 [GRCh37]
ChrX:Xq22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000536591]|not provided [RCV000173244] ChrX:100408039 [GRCh38]
ChrX:99663037 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
NM_001184880.2(PCDH19):c.2288+6A>G single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000147071] ChrX:100407050 [GRCh38]
ChrX:99662048 [GRCh37]
ChrX:Xq22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000147075]|Sleep abnormality [RCV000735393] ChrX:100402781 [GRCh38]
ChrX:99657779 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000147076] ChrX:100342009 [GRCh38]
ChrX:99597007 [GRCh37]
ChrX:Xq22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001414761]|Inborn genetic diseases [RCV002426732]|not provided [RCV000153644] ChrX:100342030 [GRCh38]
ChrX:99597028 [GRCh37]
ChrX:Xq22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000696918]|not provided [RCV000153645] ChrX:100408053 [GRCh38]
ChrX:99663051 [GRCh37]
ChrX:Xq22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.271CTG[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 Developmental and epileptic encephalopathy, 9 [RCV000462082]|not provided [RCV001705084]|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 Developmental and epileptic encephalopathy, 9 [RCV001501869]|not specified [RCV000193308] ChrX:100342057 [GRCh38]
ChrX:99597055 [GRCh37]
ChrX:Xq22.1		 likely benign|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 Developmental and epileptic encephalopathy, 9 [RCV002054087]|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 Developmental and epileptic encephalopathy, 9 [RCV000197764] ChrX:100408140..100408141 [GRCh38]
ChrX:99663138..99663139 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000193596] ChrX:100408108 [GRCh38]
ChrX:99663106 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.25CTG[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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000764882]|Neurodevelopmental disorder with epilepsy [RCV001199411]|not provided [RCV000188327]|not specified [RCV001818456] 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 Developmental and epileptic encephalopathy, 9 [RCV002517005]|not specified [RCV000188334] ChrX:100406708 [GRCh38]
ChrX:99661706 [GRCh37]
ChrX:Xq22.1		 benign|likely 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV003621514]|not provided [RCV000188346] ChrX:100408229 [GRCh38]
ChrX:99663227 [GRCh37]
ChrX:Xq22.1		 pathogenic|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 Developmental and epileptic encephalopathy, 9 [RCV001378123]|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 Developmental and epileptic encephalopathy, 9 [RCV002272165]|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 Developmental and epileptic encephalopathy, 9 [RCV002265675]|Inborn genetic diseases [RCV003352800]|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 Developmental and epileptic encephalopathy, 9 [RCV001368285]|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 Developmental and epileptic encephalopathy, 9 [RCV003765197]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002514025]|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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002514027]|Inborn genetic diseases [RCV002317137]|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 Developmental and epileptic encephalopathy, 9 [RCV003621515]|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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001857628]|not provided [RCV000188384] ChrX:100402576 [GRCh38]
ChrX:99657574 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003621516]|not provided [RCV000188385] ChrX:100408295..100408297 [GRCh38]
ChrX:99663293..99663295 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
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 Developmental and epileptic encephalopathy, 9 [RCV001389178]|not provided [RCV000188387] ChrX:100407793 [GRCh38]
ChrX:99662791 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) deletion Developmental and 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.1958_1959dup (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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001857629]|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 Developmental and epileptic encephalopathy, 9 [RCV001857630]|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 Developmental and epileptic encephalopathy, 9 [RCV000560023]|Epilepsy [RCV004017473]|Inborn genetic diseases [RCV002317138]|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.1956_1959del (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 Developmental and epileptic encephalopathy, 9 [RCV001304498]|not provided [RCV004584624]|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 Developmental and epileptic encephalopathy, 9 [RCV003509511]|not specified [RCV000188318] ChrX:100296687 [GRCh38]
ChrX:99551685 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001087102]|PCDH19-related disorder [RCV003947577]|not provided [RCV000726609] 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 Developmental and epileptic encephalopathy, 9 [RCV001470088]|PCDH19-related disorder [RCV003947578]|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 Developmental and epileptic encephalopathy, 9 [RCV001080559]|Inborn genetic diseases [RCV002453695]|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 Developmental and epileptic encephalopathy, 9 [RCV000461264]|Inborn genetic diseases [RCV002345674]|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 Developmental and epileptic encephalopathy, 9 [RCV001419261]|not provided [RCV000725436]|not specified [RCV000188329] ChrX:100407389 [GRCh38]
ChrX:99662387 [GRCh37]
ChrX:Xq22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000606264]|Inborn genetic diseases [RCV002381630]|PCDH19-related disorder [RCV003937663]|not provided [RCV001706162]|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 Developmental and epileptic encephalopathy, 9 [RCV000817711]|Inborn genetic diseases [RCV002381631]|Neurodevelopmental disorder with epilepsy [RCV001199413]|not provided [RCV001355177]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001061379]|Inborn genetic diseases [RCV002317135]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000548142]|Inborn genetic diseases [RCV002415811]|PCDH19-related disorder [RCV003955125]|not provided [RCV001721211] ChrX:100406574 [GRCh38]
ChrX:99661572 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001327581]|not provided [RCV000725852] ChrX:100402618 [GRCh38]
ChrX:99657616 [GRCh37]
ChrX:Xq22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001065355]|Inborn genetic diseases [RCV002514024]|not provided [RCV000766557]|not specified [RCV000188341] ChrX:100296462 [GRCh38]
ChrX:99551460 [GRCh37]
ChrX:Xq22.1		 likely benign|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 Developmental and epileptic encephalopathy, 9 [RCV000641136]|Inborn genetic diseases [RCV002317136]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002514026]|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 Developmental and epileptic encephalopathy, 9 [RCV001086672]|not provided [RCV000426410] 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 Developmental and epileptic encephalopathy, 9 [RCV002517880]|Inborn genetic diseases [RCV002426910]|not provided [RCV000188378] ChrX:100350665 [GRCh38]
ChrX:99605663 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2289-11C>G single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002054214]|not provided [RCV000188379] ChrX:100402862 [GRCh38]
ChrX:99657860 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001852481]|not provided [RCV000188380] ChrX:100350653 [GRCh38]
ChrX:99605651 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001852482]|not provided [RCV000188382] ChrX:100402821 [GRCh38]
ChrX:99657819 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001068796]|not provided [RCV001092881] ChrX:100402723 [GRCh38]
ChrX:99657721 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000990898]|Inborn genetic diseases [RCV002514028]|PCDH19-related disorder [RCV003927743]|not provided [RCV004597756]|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 Developmental and epileptic encephalopathy, 9 [RCV001051161]|Familial GGE [RCV001199417]|Inborn genetic diseases [RCV002381632]|not provided [RCV001705031] ChrX:100407277 [GRCh38]
ChrX:99662275 [GRCh37]
ChrX:Xq22.1		 benign|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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000560645] ChrX:100407468 [GRCh38]
ChrX:99662466 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000641126]|Inborn genetic diseases [RCV002323886]|not provided [RCV001696826] 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000545068]|Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV004579553] ChrX:99551255..99926004 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) single nucleotide variant Developmental and 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] 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002059175]|PCDH19-related disorder [RCV003947897]|not provided [RCV000388552] ChrX:100296667 [GRCh38]
ChrX:99551665 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001372184]|not provided [RCV000364391] ChrX:100402768 [GRCh38]
ChrX:99657766 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs) microsatellite Developmental and 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
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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.1419_1422del (p.Ser474fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV001242648]|not provided [RCV000489321] ChrX:100407176..100407179 [GRCh38]
ChrX:99662174..99662177 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.596A>G (p.Glu199Gly) single nucleotide variant not provided [RCV002281416] ChrX:100408002 [GRCh38]
ChrX:99663000 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV002284150] ChrX:100407447 [GRCh38]
ChrX:99662445 [GRCh37]
ChrX:Xq22.1		 uncertain significance
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.1297C>A (p.Leu433Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001368289] ChrX:100407301 [GRCh38]
ChrX:99662299 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
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.2288+145_2288+147del deletion not provided [RCV001547226] ChrX:100403377..100403379 [GRCh38]
ChrX:99658375..99658377 [GRCh37]
ChrX:Xq22.1		 likely benign
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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000641135]|Inborn genetic diseases [RCV002458057] ChrX:100402661 [GRCh38]
ChrX:99657659 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000641137] ChrX:100407415 [GRCh38]
ChrX:99662413 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000768278] ChrX:100407891 [GRCh38]
ChrX:99662889 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002525365]|Inborn genetic diseases [RCV002318434]|not provided [RCV001703824] ChrX:100407029 [GRCh38]
ChrX:99662027 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001505722]|Inborn genetic diseases [RCV002379313]|PCDH19-related disorder [RCV003942341]|not provided [RCV000710169] 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 Developmental and epileptic encephalopathy, 9 [RCV001504452]|Inborn genetic diseases [RCV002446762]|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 Developmental and epileptic encephalopathy, 9 [RCV001506717]|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 provided [RCV001720080] ChrX:100408289 [GRCh38]
ChrX:99663287 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001440311]|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 Developmental and epileptic encephalopathy, 9 [RCV002065042]|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 Developmental and epileptic encephalopathy, 9 [RCV001418520]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000952165]|not provided [RCV001698219] 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 Developmental and epileptic encephalopathy, 9 [RCV000868438]|Inborn genetic diseases [RCV002446653]|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 Developmental and epileptic encephalopathy, 9 [RCV000549473]|PCDH19-related disorder [RCV003912746]|not provided [RCV001704414] ChrX:100407113 [GRCh38]
ChrX:99662111 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621533]|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 Developmental and epileptic encephalopathy, 9 [RCV002522713]|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 Developmental and epileptic encephalopathy, 9 [RCV001471651]|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 Developmental and epileptic encephalopathy, 9 [RCV000458491]|Inborn genetic diseases [RCV002436262]|not provided [RCV001703612] ChrX:100341961 [GRCh38]
ChrX:99596959 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001851075]|not specified [RCV000420262] ChrX:100403589 [GRCh38]
ChrX:99658587 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001505299]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001489561]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000470485]|not provided [RCV001613306] 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 Developmental and epileptic encephalopathy, 9 [RCV001502232] ChrX:100406561 [GRCh38]
ChrX:99661559 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001426934] ChrX:100408433 [GRCh38]
ChrX:99663431 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002526518]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000660225]|PCDH19-related disorder [RCV003900023]|not provided [RCV000480627] ChrX:100407121 [GRCh38]
ChrX:99662119 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001418816]|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 Developmental and epileptic encephalopathy, 9 [RCV000472022] ChrX:100407120 [GRCh38]
ChrX:99662118 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) deletion Developmental and epileptic encephalopathy, 9 [RCV000475650]|not provided [RCV003441876] ChrX:100402799 [GRCh38]
ChrX:99657797 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) single nucleotide variant Developmental and 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 Developmental and 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]|not specified [RCV002509405] ChrX:100407163 [GRCh38]
ChrX:99662161 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
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 Developmental and epileptic encephalopathy, 9 [RCV001857019]|not provided [RCV001697003] ChrX:100407214 [GRCh38]
ChrX:99662212 [GRCh37]
ChrX:Xq22.1		 likely benign|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 Developmental and epileptic encephalopathy, 9 [RCV001436183]|not specified [RCV000501255] ChrX:100296319 [GRCh38]
ChrX:99551317 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001483811]|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 Developmental and epileptic encephalopathy, 9 [RCV001865562]|not provided [RCV000497495] ChrX:100408189 [GRCh38]
ChrX:99663187 [GRCh37]
ChrX:Xq22.1		 pathogenic|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 Developmental and epileptic encephalopathy, 9 [RCV001865559]|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 Developmental and epileptic encephalopathy, 9 [RCV001434422]|Inborn genetic diseases [RCV002431460]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002524035]|not provided [RCV000494296] ChrX:100408229 [GRCh38]
ChrX:99663227 [GRCh37]
ChrX:Xq22.1		 pathogenic|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|uncertain significance
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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000526406]|Inborn genetic diseases [RCV002526131] ChrX:100403557 [GRCh38]
ChrX:99658555 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000543874]|Inborn genetic diseases [RCV002456127]|PCDH19-related disorder [RCV003960319]|not specified [RCV000603551] ChrX:100296312 [GRCh38]
ChrX:99551310 [GRCh37]
ChrX:Xq22.1		 benign|likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000538675] ChrX:100407740 [GRCh38]
ChrX:99662738 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2113C>G (p.Arg705Gly) single nucleotide variant Inborn genetic diseases [RCV003282941] ChrX:100406485 [GRCh38]
ChrX:99661483 [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 Developmental and epileptic encephalopathy, 9 [RCV002066694]|not provided [RCV000995987] ChrX:100402542 [GRCh38]
ChrX:99657540 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001425105]|not provided [RCV002263831]|not specified [RCV000602440] ChrX:100408058 [GRCh38]
ChrX:99663056 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2275C>A (p.Leu759Ile) single nucleotide variant not provided [RCV003313505] ChrX:100403537 [GRCh38]
ChrX:99658535 [GRCh37]
ChrX:Xq22.1		 uncertain significance
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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV003621558]|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000641139]|not provided [RCV001092884] ChrX:100407415 [GRCh38]
ChrX:99662413 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1340A>C (p.Asn447Thr) single nucleotide variant not provided [RCV003314881] ChrX:100407258 [GRCh38]
ChrX:99662256 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001078712]|not provided [RCV000869129] ChrX:100296712 [GRCh38]
ChrX:99551710 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000795231]|PCDH19-related disorder [RCV003892372]|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 Developmental and epileptic encephalopathy, 9 [RCV001055033]|Inborn genetic diseases [RCV002532792]|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 Developmental and epileptic encephalopathy, 9 [RCV002528638]|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 Developmental and epileptic encephalopathy, 9 [RCV000641130] ChrX:100406473 [GRCh38]
ChrX:99661471 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2263_2288+1dup duplication Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000641145] ChrX:100296646 [GRCh38]
ChrX:99551644 [GRCh37]
ChrX:Xq22.1		 likely benign
NC_000023.11:g.(?_100296257)_(100296895_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV000641146] ChrX:100296257..100296895 [GRCh38]
ChrX:99551255..99551893 [GRCh37]
ChrX:Xq22.1		 pathogenic|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		 likely pathogenic|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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001861692]|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 Developmental and 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 Inborn genetic diseases [RCV002360682]|not provided [RCV000659171] ChrX:100407914 [GRCh38]
ChrX:99662912 [GRCh37]
ChrX:Xq22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.1657_2616+3340del deletion Developmental and epileptic encephalopathy, 9 [RCV000685349] ChrX:100399184..100406941 [GRCh38]
ChrX:99654182..99661939 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000685792]|Inborn genetic diseases [RCV002369822] ChrX:100407680 [GRCh38]
ChrX:99662678 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002534952]|Inborn genetic diseases [RCV002316777] 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 Bilateral tonic-clonic seizure [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 Developmental and 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 Developmental and 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 Developmental and 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		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000703107] ChrX:100407769..100407771 [GRCh38]
ChrX:99662767..99662769 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000698231] ChrX:100408356 [GRCh38]
ChrX:99663354 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000698541]|Inborn genetic diseases [RCV002386228] 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000700933] ChrX:100408507 [GRCh38]
ChrX:99663505 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000697135] ChrX:100296425 [GRCh38]
ChrX:99551423 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) duplication Inborn genetic diseases [RCV002317989] ChrX:100407829..100407830 [GRCh38]
ChrX:99662827..99662828 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001218532]|Inborn genetic diseases [RCV002318268] ChrX:100296287 [GRCh38]
ChrX:99551285 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) single nucleotide variant Inborn genetic diseases [RCV002317553] ChrX:100406734 [GRCh38]
ChrX:99661732 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser) single nucleotide variant Inborn genetic diseases [RCV004026898] ChrX:100402582 [GRCh38]
ChrX:99657580 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) single nucleotide variant Inborn genetic diseases [RCV002313682] ChrX:100406850 [GRCh38]
ChrX:99661848 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.994del (p.Val332fs) deletion Developmental and epileptic encephalopathy, 9 [RCV000820009]|Inborn genetic diseases [RCV002317609] ChrX:100407604 [GRCh38]
ChrX:99662602 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro) single nucleotide variant Inborn genetic diseases [RCV002317622] ChrX:100408005 [GRCh38]
ChrX:99663003 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001216154]|Inborn genetic diseases [RCV002318140] ChrX:100296567 [GRCh38]
ChrX:99551565 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) duplication Inborn genetic diseases [RCV002317640] ChrX:100408224..100408225 [GRCh38]
ChrX:99663222..99663223 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000990909]|Inborn genetic diseases [RCV002317645]|not provided [RCV002279498] ChrX:100408100 [GRCh38]
ChrX:99663098 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) deletion Developmental and epileptic encephalopathy, 9 [RCV000797290]|Inborn genetic diseases [RCV002318126] ChrX:100407507 [GRCh38]
ChrX:99662505 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001058753]|Inborn genetic diseases [RCV002318183] 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 Autism [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.600_603dup (p.Ser202fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001667868] ChrX:100407994..100407995 [GRCh38]
ChrX:99662992..99662993 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000758011]|not provided [RCV001569518] ChrX:100408136 [GRCh38]
ChrX:99663134 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001379144]|not provided [RCV000762659] ChrX:100406917 [GRCh38]
ChrX:99661915 [GRCh37]
ChrX:Xq22.1		 pathogenic|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.2714A>G (p.Lys905Arg) single nucleotide variant not provided [RCV003314926] ChrX:100342037 [GRCh38]
ChrX:99597035 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) deletion Developmental and epileptic encephalopathy, 9 [RCV000990897]|not provided [RCV001567391] ChrX:100296319..100296320 [GRCh38]
ChrX:99551317..99551318 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) duplication Developmental and epileptic encephalopathy, 9 [RCV000990899] ChrX:100342053..100342054 [GRCh38]
ChrX:99597051..99597052 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1159C>G (p.Arg387Gly) single nucleotide variant not provided [RCV003239258] ChrX:100407439 [GRCh38]
ChrX:99662437 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001066952] ChrX:100407478 [GRCh38]
ChrX:99662476 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic|uncertain significance
NC_000023.10:g.(?_99551255)_(99926004_?)dup duplication Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000869998]|not provided [RCV001567109]|not specified [RCV001816989] ChrX:100296404 [GRCh38]
ChrX:99551402 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001490508] ChrX:100407236 [GRCh38]
ChrX:99662234 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000928188]|Inborn genetic diseases [RCV002400039] ChrX:100406993 [GRCh38]
ChrX:99661991 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000877079] ChrX:100407683 [GRCh38]
ChrX:99662681 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001054864] ChrX:100406952..100406953 [GRCh38]
ChrX:99661950..99661951 [GRCh37]
ChrX:Xq22.1		 pathogenic
NC_000023.11:g.(?_100402504)_(100408617_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001032918] ChrX:99657502..99663615 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001061919]|PCDH19-related disorder [RCV003945795] ChrX:100402581 [GRCh38]
ChrX:99657579 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001061999]|PCDH19-related disorder [RCV003393832] ChrX:100402624 [GRCh38]
ChrX:99657622 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs) insertion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001052229] ChrX:100407898 [GRCh38]
ChrX:99662896 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001047027] ChrX:100406485 [GRCh38]
ChrX:99661483 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) duplication Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV003621582]|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 Developmental and epileptic encephalopathy, 9 [RCV001858825]|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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000793687]|not provided [RCV003166107] ChrX:100408521 [GRCh38]
ChrX:99663519 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) deletion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000768279]|Inborn genetic diseases [RCV002343618] ChrX:100408070 [GRCh38]
ChrX:99663068 [GRCh37]
ChrX:Xq22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.2676-6A>G single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000861344]|Inborn genetic diseases [RCV002372395]|PCDH19-related disorder [RCV003908156]|not provided [RCV001655611] ChrX:100408559 [GRCh38]
ChrX:99663557 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000867194]|Inborn genetic diseases [RCV002345981] ChrX:100408025 [GRCh38]
ChrX:99663023 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001392284] ChrX:100406678 [GRCh38]
ChrX:99661676 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) microsatellite Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002064777] ChrX:100407596 [GRCh38]
ChrX:99662594 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.894C>T (p.Val298=) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001496583] ChrX:100296496 [GRCh38]
ChrX:99551494 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000802867] ChrX:100296370 [GRCh38]
ChrX:99551368 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.1(PCDH19):c.79_2616+17371del deletion Developmental and epileptic encephalopathy, 9 [RCV000818621] ChrX:100385153..100408519 [GRCh38]
ChrX:Xq22.1		 likely pathogenic
NC_000023.11:g.(?_100296257)_(100342095_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV000823235] ChrX:100296257..100342095 [GRCh38]
ChrX:99551255..99597093 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000809875]|PCDH19-related disorder [RCV003892730]|not provided [RCV001568270] ChrX:100296687 [GRCh38]
ChrX:99551685 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001442605]|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 Developmental and epileptic encephalopathy, 9 [RCV002064621]|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 Developmental and epileptic encephalopathy, 9 [RCV000815155]|Inborn genetic diseases [RCV003279098]|not specified [RCV002265895] ChrX:100296369 [GRCh38]
ChrX:99551367 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV000805019]|not provided [RCV002272362] ChrX:100407493 [GRCh38]
ChrX:99662491 [GRCh37]
ChrX:Xq22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001425243] ChrX:100402695 [GRCh38]
ChrX:99657693 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000802161]|not provided [RCV002249515] ChrX:100407567 [GRCh38]
ChrX:99662565 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV002062221]|not provided [RCV000828327] ChrX:100407806 [GRCh38]
ChrX:99662804 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000822182] ChrX:100407853 [GRCh38]
ChrX:99662851 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.1(PCDH19):c.-1690C>T 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000792313]|Inborn genetic diseases [RCV004027414]|PCDH19-related disorder [RCV004753042] ChrX:100402660 [GRCh38]
ChrX:99657658 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001410465] ChrX:100407155 [GRCh38]
ChrX:99662153 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000821586] ChrX:100403590 [GRCh38]
ChrX:99658588 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) deletion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000939839]|not provided [RCV001702861] ChrX:100296748 [GRCh38]
ChrX:99551746 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000819108] ChrX:100407874 [GRCh38]
ChrX:99662872 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) deletion Developmental and epileptic encephalopathy, 9 [RCV000806239] ChrX:100296476 [GRCh38]
ChrX:99551474 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001471922]|not specified [RCV001819029] ChrX:100407968 [GRCh38]
ChrX:99662966 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001327853]|not provided [RCV000838614] ChrX:100296416 [GRCh38]
ChrX:99551414 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.1(PCDH19):c.-1738G>C 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 Developmental and epileptic encephalopathy, 9 [RCV001067355] ChrX:100407140 [GRCh38]
ChrX:99662138 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.11:g.(?_100402504)_(100402871_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001032501] ChrX:99657502..99657869 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV000990908] ChrX:100407661 [GRCh38]
ChrX:99662659 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001248634]|not provided [RCV001760289] ChrX:100296303 [GRCh38]
ChrX:99551301 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001231311]|not provided [RCV004727015] ChrX:100407256 [GRCh38]
ChrX:99662254 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del) microsatellite Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001233401] ChrX:100408195 [GRCh38]
ChrX:99663193 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001220695]|Inborn genetic diseases [RCV004032397] ChrX:100402591 [GRCh38]
ChrX:99657589 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.476del (p.Gly159fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001220445] ChrX:100408122 [GRCh38]
ChrX:99663120 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs) duplication Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001213098]|not provided [RCV003235500]|not specified [RCV001819902] ChrX:100408228 [GRCh38]
ChrX:99663226 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) single nucleotide variant Developmental and 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 Developmental and 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.340G>A (p.Val114Met) single nucleotide variant Inborn genetic diseases [RCV003273248] ChrX:100408258 [GRCh38]
ChrX:99663256 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001247771] ChrX:100406958 [GRCh38]
ChrX:99661956 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs) deletion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001198502] ChrX:100407562 [GRCh38]
ChrX:99662560 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99596881)_(99597093_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV003105639] ChrX:99596881..99597093 [GRCh37]
ChrX:Xq22.1		 pathogenic
NC_000023.10:g.(?_99605624)_(99605722_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV003105640] ChrX:99605624..99605722 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2495T>C (p.Phe832Ser) single nucleotide variant not provided [RCV003229949] ChrX:100402645 [GRCh38]
ChrX:99657643 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(100099087_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV003105638] ChrX:99551275..100099087 [GRCh37]
ChrX:Xq22.1		 pathogenic
NC_000023.10:g.(?_99596881)_(99597093_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003105641] ChrX:99596881..99597093 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) deletion Developmental and epileptic encephalopathy, 9 [RCV001542635] ChrX:100408100 [GRCh38]
ChrX:99663098 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1565del (p.Asn522fs) deletion not provided [RCV001543534] ChrX:100407033 [GRCh38]
ChrX:99662031 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.-423C>T single nucleotide variant not provided [RCV001598604] ChrX:100409020 [GRCh38]
ChrX:99664018 [GRCh37]
ChrX:Xq22.1		 benign
NM_004945.3(DNM2):c.162-7C>T single nucleotide variant not provided [RCV001723441] ChrX:100408444 [GRCh38]
ChrX:99663442 [GRCh37]		 uncertain significance
NM_001184880.2(PCDH19):c.2227T>A (p.Ser743Thr) single nucleotide variant not provided [RCV001569537] ChrX:100403585 [GRCh38]
ChrX:99658583 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.-40G>A single nucleotide variant not provided [RCV001620967] ChrX:100408637 [GRCh38]
ChrX:99663635 [GRCh37]
ChrX:Xq22.1		 benign
NM_001184880.2(PCDH19):c.-1142CGG[7] microsatellite not provided [RCV001716772] ChrX:100409710..100409718 [GRCh38]
ChrX:99664708..99664716 [GRCh37]
ChrX:Xq22.1		 benign
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001443586] 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 Developmental and epileptic encephalopathy, 9 [RCV001424311] 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 Developmental and epileptic encephalopathy, 9 [RCV001455082]|not provided [RCV003432968] ChrX:100408412 [GRCh38]
ChrX:99663410 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs) deletion Developmental and 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 Developmental and 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 seizure [RCV001089582] ChrX:100350643..100350644 [GRCh38]
ChrX:99605641..99605642 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001089700]|not provided [RCV004584849] ChrX:100407049 [GRCh38]
ChrX:99662047 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) duplication Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001089726] ChrX:100407983 [GRCh38]
ChrX:99662981 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.581del (p.Lys194fs) deletion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001247902] ChrX:100406902 [GRCh38]
ChrX:99661900 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3070_3073dup (p.His1025fs) duplication Seizure [RCV001201165] ChrX:100296650..100296651 [GRCh38]
ChrX:99551648..99551649 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001243814]|Inborn genetic diseases [RCV004649538] ChrX:100350678 [GRCh38]
ChrX:99605676 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2289-2A>G single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001227718] ChrX:100406928 [GRCh38]
ChrX:99661926 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.11:g.(?_100296257)_(100408617_?)dup duplication Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001228099] ChrX:100296287..100296288 [GRCh38]
ChrX:99551285..99551286 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002568410]|not provided [RCV001561812] ChrX:100406781 [GRCh38]
ChrX:99661779 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) duplication Developmental and 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.824A>C (p.Tyr275Ser) single nucleotide variant not provided [RCV001558786] ChrX:100407774 [GRCh38]
ChrX:99662772 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509807]|not provided [RCV003328031] ChrX:100408444 [GRCh38]
ChrX:99663442 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1501C>T (p.Pro501Ser) single nucleotide variant not provided [RCV001594171] ChrX:100407097 [GRCh38]
ChrX:99662095 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001184880.2(PCDH19):c.3219C>A (p.Ser1073Arg) single nucleotide variant not provided [RCV001560973] ChrX:100296505 [GRCh38]
ChrX:99551503 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002467427] ChrX:100406590 [GRCh38]
ChrX:99661588 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002471571] ChrX:100408123 [GRCh38]
ChrX:99663121 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001089725]|not provided [RCV001008024] ChrX:100408033 [GRCh38]
ChrX:99663031 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.-1142CGG[11] microsatellite not provided [RCV001658882] ChrX:100409709..100409710 [GRCh38]
ChrX:99664707..99664708 [GRCh37]
ChrX:Xq22.1		 likely benign
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.3033C>G (p.Thr1011=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509678]|not provided [RCV001594525] ChrX:100296691 [GRCh38]
ChrX:99551689 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.811_825del (p.Gly271_Tyr275del) deletion not provided [RCV001659014] ChrX:100407773..100407787 [GRCh38]
ChrX:99662771..99662785 [GRCh37]
ChrX:Xq22.1		 likely 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 Developmental and epileptic encephalopathy, 9 [RCV001071081] ChrX:100407084 [GRCh38]
ChrX:99662082 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) indel Developmental and epileptic encephalopathy, 9 [RCV001089701] ChrX:100406625 [GRCh38]
ChrX:99661623 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) microsatellite Developmental and 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 Developmental and 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.2616+248A>G single nucleotide variant not provided [RCV001548229] ChrX:100402276 [GRCh38]
ChrX:99657274 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001047468] ChrX:100407298 [GRCh38]
ChrX:99662296 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.-488G>C single nucleotide variant not provided [RCV001684818] ChrX:100409085 [GRCh38]
ChrX:99664083 [GRCh37]
ChrX:Xq22.1		 benign
NM_001184880.2(PCDH19):c.745del (p.Glu249fs) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001203924]|not provided [RCV001815511] ChrX:100407696 [GRCh38]
ChrX:99662694 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001368904]|Non-lesional parietal lobe epilepsy [RCV001199415] ChrX:100407774 [GRCh38]
ChrX:99662772 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) deletion Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001052975]|not provided [RCV002275191] ChrX:100341984 [GRCh38]
ChrX:99596982 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs) deletion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001057347] ChrX:100296300 [GRCh38]
ChrX:99551298 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.533del (p.Ile178fs) deletion Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001039440]|Inborn genetic diseases [RCV002552488] ChrX:100406812 [GRCh38]
ChrX:99661810 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001220105]|not provided [RCV001531797] ChrX:100407892 [GRCh38]
ChrX:99662890 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2676-10T>G single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001039975] ChrX:100407558 [GRCh38]
ChrX:99662556 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.659del (p.Gly220fs) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001218626]|not provided [RCV001543523] ChrX:100406959 [GRCh38]
ChrX:99661957 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001070487]|Inborn genetic diseases [RCV002554601] ChrX:100402753 [GRCh38]
ChrX:99657751 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer) deletion Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001053951]|not provided [RCV001585953] ChrX:100402639 [GRCh38]
ChrX:99657637 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001368522]|Non-ketotic hyperglycinemia [RCV001199421]|not provided [RCV003117667] ChrX:100407475 [GRCh38]
ChrX:99662473 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
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 Developmental and epileptic encephalopathy, 9 [RCV001071976]|not provided [RCV002512137] ChrX:100408219 [GRCh38]
ChrX:99663217 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|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 Developmental and epileptic encephalopathy, 9 [RCV001040733]|Inborn genetic diseases [RCV002434457] 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001210744] ChrX:100406733 [GRCh38]
ChrX:99661731 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551255)_(99905882_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001033048] ChrX:99551255..99905882 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001233479] ChrX:100408236 [GRCh38]
ChrX:99663234 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001228624] ChrX:100407060 [GRCh38]
ChrX:99662058 [GRCh37]
ChrX:Xq22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001252103] ChrX:100407255 [GRCh38]
ChrX:99662253 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001253439] ChrX:100296666..100296667 [GRCh38]
ChrX:99551664..99551665 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|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 Developmental and 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
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and 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 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001339325]|not provided [RCV004774412] ChrX:100407789 [GRCh38]
ChrX:99662787 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001314479]|not specified [RCV004699300] ChrX:100407787 [GRCh38]
ChrX:99662785 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001291527]|Focal-onset seizure [RCV001836982] ChrX:100408135 [GRCh38]
ChrX:99663133 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001321355]|Inborn genetic diseases [RCV002431916] ChrX:100402739 [GRCh38]
ChrX:99657737 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001337579] ChrX:100407960 [GRCh38]
ChrX:99662958 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.765A>G (p.Thr255=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001392328] ChrX:100407833 [GRCh38]
ChrX:99662831 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001383067]|not provided [RCV003886505] ChrX:100402565 [GRCh38]
ChrX:99657563 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV001383068]|not provided [RCV004570946] ChrX:100407172..100407173 [GRCh38]
ChrX:99662170..99662171 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001383320] ChrX:100408306..100408307 [GRCh38]
ChrX:99663304..99663305 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2616+3G>A single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001298457] ChrX:100402521 [GRCh38]
ChrX:99657519 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001362310]|not provided [RCV004774430] ChrX:100406616 [GRCh38]
ChrX:99661614 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001372594] ChrX:100408059 [GRCh38]
ChrX:99663057 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2833C>T (p.Gln945Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001363299] ChrX:100341918 [GRCh38]
ChrX:99596916 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001885229]|PCDH19-related epilepsy [RCV001797562] ChrX:100342023 [GRCh38]
ChrX:99597021 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001296149]|not provided [RCV002253801] ChrX:100407322 [GRCh38]
ChrX:99662320 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001298321] ChrX:100296483 [GRCh38]
ChrX:99551481 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.807C>A (p.Thr269=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001397044] ChrX:100407791 [GRCh38]
ChrX:99662789 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001331632] ChrX:100407922 [GRCh38]
ChrX:99662920 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.948G>T (p.Val316=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001413925] ChrX:100407650 [GRCh38]
ChrX:99662648 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001372948]|not provided [RCV001762650] ChrX:100296483 [GRCh38]
ChrX:99551481 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe) indel Developmental and epileptic encephalopathy, 9 [RCV001346311] ChrX:100406958..100406959 [GRCh38]
ChrX:99661956..99661957 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001364080] ChrX:100296573 [GRCh38]
ChrX:99551571 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001344741]|not provided [RCV002070218] ChrX:100406480 [GRCh38]
ChrX:99661478 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) single nucleotide variant Developmental and 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 Developmental and 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 Abnormal cerebral morphology [RCV002275356]|Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001320625] ChrX:100407513 [GRCh38]
ChrX:99662511 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001374127] ChrX:100406923 [GRCh38]
ChrX:99661921 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001320718] ChrX:100408153 [GRCh38]
ChrX:99663151 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001324385] ChrX:100296678 [GRCh38]
ChrX:99551676 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2360G>T (p.Arg787Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001363355]|not provided [RCV001531795] ChrX:100402780 [GRCh38]
ChrX:99657778 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001350410] ChrX:100407358 [GRCh38]
ChrX:99662356 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001309043]|Inborn genetic diseases [RCV002456399] ChrX:100407501 [GRCh38]
ChrX:99662499 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser) single nucleotide variant Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001323634] ChrX:100406916 [GRCh38]
ChrX:99661914 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) single nucleotide variant Developmental and 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 Seizure [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 Developmental and epileptic encephalopathy, 9 [RCV001298996] ChrX:100407910 [GRCh38]
ChrX:99662908 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001371033] ChrX:100408123 [GRCh38]
ChrX:99663121 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001314100] ChrX:100406987 [GRCh38]
ChrX:99661985 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001366604] ChrX:100408007 [GRCh38]
ChrX:99663005 [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 Developmental and 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 Developmental and 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 Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001327659] ChrX:100407619 [GRCh38]
ChrX:99662617 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1816G>T (p.Asp606Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001359190] ChrX:100406782 [GRCh38]
ChrX:99661780 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2499G>A (p.Leu833=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001413978] ChrX:100402641 [GRCh38]
ChrX:99657639 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile) single nucleotide variant Developmental and 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 Developmental and epileptic encephalopathy, 9 [RCV001306218] ChrX:100407160 [GRCh38]
ChrX:99662158 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001498335] ChrX:100402569 [GRCh38]
ChrX:99657567 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3045C>T (p.Phe1015=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001450663] ChrX:100296679 [GRCh38]
ChrX:99551677 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1176G>T (p.Val392=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001470763] ChrX:100407422 [GRCh38]
ChrX:99662420 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1752C>T (p.Gly584=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001492542] ChrX:100406846 [GRCh38]
ChrX:99661844 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1041C>T (p.Asn347=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001492614] ChrX:100407557 [GRCh38]
ChrX:99662555 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3306C>T (p.Asn1102=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001492628] ChrX:100296418 [GRCh38]
ChrX:99551416 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001503583] ChrX:100296529 [GRCh38]
ChrX:99551527 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.405G>A (p.Glu135=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001418078] ChrX:100408193 [GRCh38]
ChrX:99663191 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001379045] ChrX:100408595 [GRCh38]
ChrX:99663593 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1662C>T (p.Leu554=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001468471] ChrX:100406936 [GRCh38]
ChrX:99661934 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001383903] ChrX:100407576 [GRCh38]
ChrX:99662574 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001489801] ChrX:100296586 [GRCh38]
ChrX:99551584 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001426194] ChrX:100402779 [GRCh38]
ChrX:99657777 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001381147] ChrX:100406927 [GRCh38]
ChrX:99661925 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1641T>C (p.Ala547=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001446272] ChrX:100406957 [GRCh38]
ChrX:99661955 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.889C>T (p.Leu297=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001412079] ChrX:100407709 [GRCh38]
ChrX:99662707 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.768C>T (p.Pro256=) single nucleotide variant not provided [RCV001531796]|not specified [RCV001821855] ChrX:100407830 [GRCh38]
ChrX:99662828 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001388305] ChrX:100402638 [GRCh38]
ChrX:99657636 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.177A>T (p.Ser59=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001400250]|Inborn genetic diseases [RCV002404930] ChrX:100408421 [GRCh38]
ChrX:99663419 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001441574] ChrX:100402569 [GRCh38]
ChrX:99657567 [GRCh37]
ChrX:Xq22.1		 likely benign
NC_000023.10:g.(?_99640151)_99663517del deletion Developmental and epileptic encephalopathy, 9 [RCV001378021]   likely pathogenic
NM_001184880.2(PCDH19):c.60C>T (p.Ala20=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001441595] ChrX:100408538 [GRCh38]
ChrX:99663536 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001426837] ChrX:100296610 [GRCh38]
ChrX:99551608 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001386597] ChrX:100341987 [GRCh38]
ChrX:99596985 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.729C>T (p.Tyr243=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001440237] ChrX:100407869 [GRCh38]
ChrX:99662867 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.631C>T (p.Leu211=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001405977] ChrX:100407967 [GRCh38]
ChrX:99662965 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1200G>A (p.Glu400=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001400058] ChrX:100407398 [GRCh38]
ChrX:99662396 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001387616] ChrX:100407409 [GRCh38]
ChrX:99662407 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001379622] ChrX:100407902 [GRCh38]
ChrX:99662900 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001388487] ChrX:100407787..100407788 [GRCh38]
ChrX:99662785..99662786 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001383902] ChrX:100406917 [GRCh38]
ChrX:99661915 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.714del (p.Phe238fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001385648] ChrX:100407884 [GRCh38]
ChrX:99662882 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2181T>C (p.Cys727=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001419489] ChrX:100403631 [GRCh38]
ChrX:99658629 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001428401] ChrX:100296541 [GRCh38]
ChrX:99551539 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001381936] ChrX:100406603..100406613 [GRCh38]
ChrX:99661601..99661611 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1962C>G (p.Ala654=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001424368]|not provided [RCV004704545] ChrX:100406636 [GRCh38]
ChrX:99661634 [GRCh37]
ChrX:Xq22.1		 likely benign
NC_000023.10:g.(?_99596891)_(99597083_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001385828] ChrX:99596891..99597083 [GRCh37]
ChrX:Xq22.1		 pathogenic
NC_000023.10:g.(?_99596891)_(99663595_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001385829] ChrX:99596891..99663595 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2289-4A>G single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001424452] ChrX:100402855 [GRCh38]
ChrX:99657853 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.456C>T (p.Ser152=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001411654] ChrX:100408142 [GRCh38]
ChrX:99663140 [GRCh37]
ChrX:Xq22.1		 likely benign
NC_000023.10:g.(?_99654182)_99661939del deletion Developmental and epileptic encephalopathy, 9 [RCV001385830]   pathogenic
NM_001184880.2(PCDH19):c.-1142CGG[13] microsatellite not provided [RCV001675293] ChrX:100409709..100409710 [GRCh38]
ChrX:99664707..99664708 [GRCh37]
ChrX:Xq22.1		 benign
NM_001184880.2(PCDH19):c.1095C>T (p.Gly365=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001494763] ChrX:100407503 [GRCh38]
ChrX:99662501 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.671T>C (p.Leu224Pro) single nucleotide variant not provided [RCV001540159] ChrX:100407927 [GRCh38]
ChrX:99662925 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003771809]|not provided [RCV001619476] ChrX:100296465 [GRCh38]
ChrX:99551463 [GRCh37]
ChrX:Xq22.1		 likely benign
NC_000023.11:g.100410351GCC[1] microsatellite not provided [RCV001613912] ChrX:100410350..100410352 [GRCh38]
ChrX:99665348..99665350 [GRCh37]
ChrX:Xq22.1		 benign
NM_001184880.2(PCDH19):c.3051C>T (p.Thr1017=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001500341] ChrX:100296673 [GRCh38]
ChrX:99551671 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.864C>G (p.Leu288=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001477434] ChrX:100407734 [GRCh38]
ChrX:99662732 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.177A>C (p.Ser59=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001484502] ChrX:100408421 [GRCh38]
ChrX:99663419 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1776A>T (p.Ala592=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001469992] ChrX:100406822 [GRCh38]
ChrX:99661820 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.591C>T (p.Asp197=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001403171] ChrX:100408007 [GRCh38]
ChrX:99663005 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001386920] ChrX:100407259 [GRCh38]
ChrX:99662257 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001388302] ChrX:100402802 [GRCh38]
ChrX:99657800 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.31C>T (p.Leu11=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001461202] ChrX:100408567 [GRCh38]
ChrX:99663565 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001390870] ChrX:100408021 [GRCh38]
ChrX:99663019 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1032G>C (p.Pro344=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001466018] ChrX:100407566 [GRCh38]
ChrX:99662564 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001387035] ChrX:100350702 [GRCh38]
ChrX:99605700 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.810C>T (p.Asn270=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001463269] ChrX:100407788 [GRCh38]
ChrX:99662786 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2147+1G>T single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001389204] ChrX:100406450 [GRCh38]
ChrX:99661448 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001383802] ChrX:100407178..100407182 [GRCh38]
ChrX:99662176..99662180 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001383905] ChrX:100407852 [GRCh38]
ChrX:99662850 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001378907] ChrX:100408227 [GRCh38]
ChrX:99663225 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.795A>T (p.Pro265=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001468111] ChrX:100407803 [GRCh38]
ChrX:99662801 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001386056] ChrX:100407765 [GRCh38]
ChrX:99662763 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2662dup (p.His888fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001384363] ChrX:100350658..100350659 [GRCh38]
ChrX:99605656..99605657 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1711G>T (p.Gly571Cys) single nucleotide variant not provided [RCV001725827] ChrX:100406887 [GRCh38]
ChrX:99661885 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile) single nucleotide variant Autism spectrum disorder [RCV003128031] ChrX:100407082 [GRCh38]
ChrX:99662080 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) duplication Developmental and epileptic encephalopathy, 9 [RCV002250178] ChrX:100407479..100407480 [GRCh38]
ChrX:99662477..99662478 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002538691]|not provided [RCV001725826] ChrX:100406707 [GRCh38]
ChrX:99661705 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.2507A>T (p.Glu836Val) single nucleotide variant not provided [RCV001761107] ChrX:100402633 [GRCh38]
ChrX:99657631 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509688]|not provided [RCV001761130] ChrX:100406462 [GRCh38]
ChrX:99661460 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001782577] ChrX:100407986 [GRCh38]
ChrX:99662984 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NC_000023.10:g.(?_99551275)_(101097764_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001785392] ChrX:100408323..100408324 [GRCh38]
ChrX:99663321..99663322 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001784157]|not provided [RCV004719174] ChrX:100408302 [GRCh38]
ChrX:99663300 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001775238] ChrX:100402748..100402749 [GRCh38]
ChrX:99657746..99657747 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001775401] ChrX:100408515 [GRCh38]
ChrX:99663513 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.2752G>A (p.Glu918Lys) single nucleotide variant not provided [RCV001752420] ChrX:100341999 [GRCh38]
ChrX:99596997 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.124G>A (p.Val42Met) single nucleotide variant not provided [RCV001771308] ChrX:100408474 [GRCh38]
ChrX:99663472 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1507T>G (p.Phe503Val) single nucleotide variant not provided [RCV001763373] ChrX:100407091 [GRCh38]
ChrX:99662089 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3431A>G (p.Lys1144Arg) single nucleotide variant not provided [RCV001774568] ChrX:100296293 [GRCh38]
ChrX:99551291 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2078T>C (p.Phe693Ser) single nucleotide variant not provided [RCV001786071] ChrX:100406520 [GRCh38]
ChrX:99661518 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.194C>T (p.Ser65Phe) single nucleotide variant not provided [RCV001752392] ChrX:100408404 [GRCh38]
ChrX:99663402 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.513C>G (p.Asn171Lys) single nucleotide variant not provided [RCV001752007] ChrX:100408085 [GRCh38]
ChrX:99663083 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.77A>C (p.Lys26Thr) single nucleotide variant not provided [RCV001752838] ChrX:100408521 [GRCh38]
ChrX:99663519 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001782579] ChrX:100407042 [GRCh38]
ChrX:99662040 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.997_999dup (p.Thr333dup) duplication not provided [RCV001771016] ChrX:100407598..100407599 [GRCh38]
ChrX:99662596..99662597 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001782578]|not provided [RCV003334055] ChrX:100296537 [GRCh38]
ChrX:99551535 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.886G>A (p.Gly296Ser) single nucleotide variant not provided [RCV001763330] ChrX:100407712 [GRCh38]
ChrX:99662710 [GRCh37]
ChrX:Xq22.1		 uncertain significance
Single allele deletion Developmental and epileptic encephalopathy, 9 [RCV001801231] ChrX:88361395..99758442 [GRCh37]
ChrX:Xq21.31-22.1		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_001184880.2(PCDH19):c.1918C>G (p.Leu640Val) single nucleotide variant not provided [RCV001757117] ChrX:100406680 [GRCh38]
ChrX:99661678 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1124A>T (p.Asp375Val) single nucleotide variant Bilateral tonic-clonic seizure [RCV001808937] ChrX:100407474 [GRCh38]
ChrX:99662472 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.2820C>G (p.Thr940=) single nucleotide variant not provided [RCV001816547] ChrX:100341931 [GRCh38]
ChrX:99596929 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3367C>T (p.His1123Tyr) single nucleotide variant not specified [RCV001817393] ChrX:100296357 [GRCh38]
ChrX:99551355 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1250A>T (p.Asp417Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001971722] ChrX:100407348 [GRCh38]
ChrX:99662346 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001896392] ChrX:100350675 [GRCh38]
ChrX:99605673 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001896415] ChrX:100407225..100407226 [GRCh38]
ChrX:99662223..99662224 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002009343] ChrX:100407567 [GRCh38]
ChrX:99662565 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001929440] ChrX:100408027 [GRCh38]
ChrX:99663025 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002045036]|PCDH19-related disorder [RCV003395345] ChrX:100341965 [GRCh38]
ChrX:99596963 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99398853-99802950) copy number loss not specified [RCV002053162] ChrX:99398853..99802950 [GRCh37]
ChrX:Xq22.1		 pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708) copy number loss not specified [RCV002053160] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1		 pathogenic
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002003694]|not provided [RCV003328690] ChrX:100407421 [GRCh38]
ChrX:99662419 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1353del (p.His452fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001946652] ChrX:100407245 [GRCh38]
ChrX:99662243 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001894061]|not provided [RCV004697147]|not specified [RCV004699504] ChrX:100406955 [GRCh38]
ChrX:99661953 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001908866] ChrX:100407631 [GRCh38]
ChrX:99662629 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.292A>C (p.Lys98Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001947706] ChrX:100408306 [GRCh38]
ChrX:99663304 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1238G>C (p.Arg413Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001823492] ChrX:100407360 [GRCh38]
ChrX:99662358 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001966397]|not provided [RCV003107933] ChrX:100406782 [GRCh38]
ChrX:99661780 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.380C>T (p.Pro127Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001985960] ChrX:100408218 [GRCh38]
ChrX:99663216 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2846A>C (p.His949Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001984385] ChrX:100341905 [GRCh38]
ChrX:99596903 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs) duplication Developmental and epileptic encephalopathy, 9 [RCV002007471] ChrX:100407711..100407712 [GRCh38]
ChrX:99662709..99662710 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001926489]|not provided [RCV002300623] ChrX:100407747 [GRCh38]
ChrX:99662745 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001946095] ChrX:100407586 [GRCh38]
ChrX:99662584 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.444C>G (p.Ile148Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002044598] ChrX:100408154 [GRCh38]
ChrX:99663152 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001967330] ChrX:100350662 [GRCh38]
ChrX:99605660 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001895125] ChrX:100296621 [GRCh38]
ChrX:99551619 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002024518] ChrX:100406812 [GRCh38]
ChrX:99661810 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter) insertion Developmental and epileptic encephalopathy, 9 [RCV002008019] ChrX:100296369..100296370 [GRCh38]
ChrX:99551367..99551368 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001970055] ChrX:100406832..100406833 [GRCh38]
ChrX:99661830..99661831 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001928117] ChrX:100407401 [GRCh38]
ChrX:99662399 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002003348] ChrX:100407954 [GRCh38]
ChrX:99662952 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.95A>T (p.Glu32Val) single nucleotide variant PCDH19-related epilespy [RCV001822990] ChrX:100408503 [GRCh38]
ChrX:99663501 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.1483T>C (p.Ser495Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002021094] ChrX:100407115 [GRCh38]
ChrX:99662113 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001908859] ChrX:100407897 [GRCh38]
ChrX:99662895 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001891691] ChrX:100296438 [GRCh38]
ChrX:99551436 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.335T>A (p.Ile112Asn) single nucleotide variant not provided [RCV001837133] ChrX:100408263 [GRCh38]
ChrX:99663261 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001943080] ChrX:100407649 [GRCh38]
ChrX:99662647 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001903236] ChrX:100408536..100408545 [GRCh38]
ChrX:99663534..99663543 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.506del (p.Thr169fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001943084] ChrX:100408092 [GRCh38]
ChrX:99663090 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001944493] ChrX:100296286 [GRCh38]
ChrX:99551284 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002018261] ChrX:100408008 [GRCh38]
ChrX:99663006 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001982385] ChrX:100408431 [GRCh38]
ChrX:99663429 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2572C>T (p.Pro858Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001944608] ChrX:100402568 [GRCh38]
ChrX:99657566 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.569T>C (p.Leu190Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001884511] ChrX:100408029 [GRCh38]
ChrX:99663027 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002000444] ChrX:100408329 [GRCh38]
ChrX:99663327 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.1360_1361delinsAA (p.Ser454Asn) indel Developmental and epileptic encephalopathy, 9 [RCV001887315] ChrX:100407237..100407238 [GRCh38]
ChrX:99662235..99662236 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001941916] ChrX:100402582 [GRCh38]
ChrX:99657580 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001905605] ChrX:100296380 [GRCh38]
ChrX:99551378 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99657775)_(99662816_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001963022] ChrX:99657775..99662816 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002048545] ChrX:100408495 [GRCh38]
ChrX:99663493 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001939067] ChrX:100296498 [GRCh38]
ChrX:99551496 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001941996] ChrX:100407097..100407098 [GRCh38]
ChrX:99662095..99662096 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2451C>T (p.His817=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002000035] ChrX:100402689 [GRCh38]
ChrX:99657687 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001942477] ChrX:100407155 [GRCh38]
ChrX:99662153 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer) insertion Developmental and epileptic encephalopathy, 9 [RCV002037884] ChrX:100407221..100407222 [GRCh38]
ChrX:99662219..99662220 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002039157] ChrX:100296516 [GRCh38]
ChrX:99551514 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001888771] ChrX:100408006 [GRCh38]
ChrX:99663004 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.3025G>A (p.Gly1009Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002036832] ChrX:100296699 [GRCh38]
ChrX:99551697 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2250C>A (p.Asp750Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002000620] ChrX:100403562 [GRCh38]
ChrX:99658560 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002039196] ChrX:100407851 [GRCh38]
ChrX:99662849 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.201G>A (p.Ser67=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001887980]|not provided [RCV004693799] ChrX:100408397 [GRCh38]
ChrX:99663395 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001920314] ChrX:100407518 [GRCh38]
ChrX:99662516 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2176G>A (p.Gly726Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002031494] ChrX:100403636 [GRCh38]
ChrX:99658634 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001915725] ChrX:100407962 [GRCh38]
ChrX:99662960 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1722G>C (p.Glu574Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001904010] ChrX:100406876 [GRCh38]
ChrX:99661874 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.883del (p.Ser295fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001898593] ChrX:100407715 [GRCh38]
ChrX:99662713 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001956169] ChrX:100407223 [GRCh38]
ChrX:99662221 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.593G>A (p.Arg198His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001933143] ChrX:100408005 [GRCh38]
ChrX:99663003 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(100663464_?)del deletion Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001936752]|not specified [RCV003490959] ChrX:100402631 [GRCh38]
ChrX:99657629 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001897441] ChrX:100406902 [GRCh38]
ChrX:99661900 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001936871] ChrX:100407478 [GRCh38]
ChrX:99662476 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2684C>T (p.Thr895Ile) single nucleotide variant not provided [RCV002034849] ChrX:100342067 [GRCh38]
ChrX:99597065 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001925597] ChrX:100407158 [GRCh38]
ChrX:99662156 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.122A>G (p.Asn41Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002028165] ChrX:100408476 [GRCh38]
ChrX:99663474 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002018247] ChrX:100402748 [GRCh38]
ChrX:99657746 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.544G>C (p.Gly182Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001932562] ChrX:100408054 [GRCh38]
ChrX:99663052 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001938508] ChrX:100407997 [GRCh38]
ChrX:99662995 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001960360] ChrX:100407406 [GRCh38]
ChrX:99662404 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001999477] ChrX:100296609 [GRCh38]
ChrX:99551607 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001976942] ChrX:100407631 [GRCh38]
ChrX:99662629 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001995869]|not provided [RCV004571891] ChrX:100350680 [GRCh38]
ChrX:99605678 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2619T>A (p.Thr873=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001980130] ChrX:100350702 [GRCh38]
ChrX:99605700 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001959857] ChrX:100407249 [GRCh38]
ChrX:99662247 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2672A>G (p.Lys891Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001991405] ChrX:100350649 [GRCh38]
ChrX:99605647 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2264A>C (p.Glu755Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001879210] ChrX:100403548 [GRCh38]
ChrX:99658546 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2239G>A (p.Glu747Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001876724] ChrX:100403573 [GRCh38]
ChrX:99658571 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002032048]|not provided [RCV003886551] ChrX:100296566 [GRCh38]
ChrX:99551564 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001956170] ChrX:100407387 [GRCh38]
ChrX:99662385 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002050048] ChrX:100407110 [GRCh38]
ChrX:99662108 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001930434] ChrX:100403549 [GRCh38]
ChrX:99658547 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.155C>T (p.Ala52Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001884170] ChrX:100408443 [GRCh38]
ChrX:99663441 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001972159]|not provided [RCV004571657] ChrX:100408546 [GRCh38]
ChrX:99663544 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001982178] ChrX:100296459 [GRCh38]
ChrX:99551457 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001952685] ChrX:100406602 [GRCh38]
ChrX:99661600 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001935837] ChrX:100296651 [GRCh38]
ChrX:99551649 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001897635] ChrX:100402709 [GRCh38]
ChrX:99657707 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2381A>C (p.Glu794Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001931096] ChrX:100402759 [GRCh38]
ChrX:99657757 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2983A>G (p.Ile995Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001992507] ChrX:100296741 [GRCh38]
ChrX:99551739 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1538G>A (p.Gly513Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002014840] ChrX:100407060 [GRCh38]
ChrX:99662058 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001957464] ChrX:100407181 [GRCh38]
ChrX:99662179 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs) deletion Developmental and epileptic encephalopathy, 9 [RCV001939331] ChrX:100408297..100408298 [GRCh38]
ChrX:99663295..99663296 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001906418] ChrX:100296795 [GRCh38]
ChrX:99551793 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001981244] ChrX:100406610 [GRCh38]
ChrX:99661608 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.505A>T (p.Thr169Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001982093] ChrX:100408093 [GRCh38]
ChrX:99663091 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001876331] ChrX:100408510 [GRCh38]
ChrX:99663508 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001973733] ChrX:100408395 [GRCh38]
ChrX:99663393 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.335T>G (p.Ile112Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001902448] ChrX:100408263 [GRCh38]
ChrX:99663261 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002031633] ChrX:100406767 [GRCh38]
ChrX:99661765 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys) indel Developmental and epileptic encephalopathy, 9 [RCV001978754] ChrX:100407974..100407975 [GRCh38]
ChrX:99662972..99662973 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002010827] ChrX:100406535 [GRCh38]
ChrX:99661533 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001921695] ChrX:100402560 [GRCh38]
ChrX:99657558 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.812G>T (p.Gly271Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV001880546] ChrX:100407786 [GRCh38]
ChrX:99662784 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(99605722_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV001951412] ChrX:99551275..99605722 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs) duplication Developmental and epileptic encephalopathy, 9 [RCV001956151] ChrX:100408502..100408503 [GRCh38]
ChrX:99663500..99663501 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1506C>T (p.Val502=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002187904] ChrX:100407092 [GRCh38]
ChrX:99662090 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.30G>A (p.Leu10=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002166511] ChrX:100408568 [GRCh38]
ChrX:99663566 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2849-13T>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002107428] ChrX:100296888 [GRCh38]
ChrX:99551886 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.783C>T (p.Asn261=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002112566] ChrX:100407815 [GRCh38]
ChrX:99662813 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.687C>T (p.Thr229=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002145641] ChrX:100407911 [GRCh38]
ChrX:99662909 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1941C>T (p.His647=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002165790] ChrX:100406657 [GRCh38]
ChrX:99661655 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1353G>T (p.Pro451=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002089482] ChrX:100407245 [GRCh38]
ChrX:99662243 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002152361] ChrX:100403535 [GRCh38]
ChrX:99658533 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1956C>G (p.Leu652=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002080692] ChrX:100406642 [GRCh38]
ChrX:99661640 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.639T>C (p.Gly213=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002174783] ChrX:100407959 [GRCh38]
ChrX:99662957 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2029T>C (p.Leu677=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002206263] ChrX:100406569 [GRCh38]
ChrX:99661567 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.705C>T (p.Asn235=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002194512] ChrX:100407893 [GRCh38]
ChrX:99662891 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2175C>T (p.Leu725=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002133037] ChrX:100403637 [GRCh38]
ChrX:99658635 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2973C>T (p.Ile991=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002149685] ChrX:100296751 [GRCh38]
ChrX:99551749 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2025G>A (p.Val675=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002191677] ChrX:100406573 [GRCh38]
ChrX:99661571 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1722G>A (p.Glu574=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002213187] ChrX:100406876 [GRCh38]
ChrX:99661874 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002128022]|Inborn genetic diseases [RCV002400344] ChrX:100407539 [GRCh38]
ChrX:99662537 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002134724]|not provided [RCV004704757] ChrX:100402605 [GRCh38]
ChrX:99657603 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2676-8C>T single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002113313] ChrX:100342083 [GRCh38]
ChrX:99597081 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1246C>A (p.His416Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002214563] ChrX:100407352 [GRCh38]
ChrX:99662350 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1552C>T (p.Leu518=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002093487] ChrX:100407046 [GRCh38]
ChrX:99662044 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3393A>G (p.Glu1131=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002133440]|not provided [RCV004704793] ChrX:100296331 [GRCh38]
ChrX:99551329 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2675+7T>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002215650] ChrX:100350639 [GRCh38]
ChrX:99605637 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.34C>T (p.Leu12=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002096354] ChrX:100408564 [GRCh38]
ChrX:99663562 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.21G>C (p.Pro7=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002174634] ChrX:100408577 [GRCh38]
ChrX:99663575 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.390G>A (p.Pro130=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002078598] ChrX:100408208 [GRCh38]
ChrX:99663206 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1218G>C (p.Leu406=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002137815] ChrX:100407380 [GRCh38]
ChrX:99662378 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.882C>T (p.His294=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002219878] ChrX:100407716 [GRCh38]
ChrX:99662714 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1056C>T (p.Asn352=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002135405] ChrX:100407542 [GRCh38]
ChrX:99662540 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1455C>T (p.Asn485=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002163284] ChrX:100407143 [GRCh38]
ChrX:99662141 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002249121] ChrX:100406811 [GRCh38]
ChrX:99661809 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002250177] ChrX:100407063 [GRCh38]
ChrX:99662061 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002250179] ChrX:100407869 [GRCh38]
ChrX:99662867 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002250180] ChrX:100408105 [GRCh38]
ChrX:99663103 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.231C>T (p.Ser77=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002120564] ChrX:100408367 [GRCh38]
ChrX:99663365 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2052C>G (p.Ala684=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002198973] ChrX:100406546 [GRCh38]
ChrX:99661544 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1440C>T (p.Pro480=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002200502] ChrX:100407158 [GRCh38]
ChrX:99662156 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.12C>T (p.Leu4=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002143402] ChrX:100408586 [GRCh38]
ChrX:99663584 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1881C>T (p.Thr627=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002183085] ChrX:100406717 [GRCh38]
ChrX:99661715 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1656C>T (p.Ile552=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002124057]|Inborn genetic diseases [RCV002400345] ChrX:100406942 [GRCh38]
ChrX:99661940 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2907G>A (p.Arg969=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002201006] ChrX:100296817 [GRCh38]
ChrX:99551815 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3213C>G (p.Leu1071=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002144226] ChrX:100296511 [GRCh38]
ChrX:99551509 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2523C>T (p.Arg841=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002178797] ChrX:100402617 [GRCh38]
ChrX:99657615 [GRCh37]
ChrX:Xq22.1		 likely benign
NC_000023.10:g.(?_99551275)_(101097764_?)del deletion not provided [RCV003113386] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003112610] ChrX:100408196 [GRCh38]
ChrX:99663194 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2837T>C (p.Met946Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003117192] ChrX:100341914 [GRCh38]
ChrX:99596912 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003112933] ChrX:100407598 [GRCh38]
ChrX:99662596 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1288G>A (p.Val430Met) single nucleotide variant not provided [RCV003129033] ChrX:100407310 [GRCh38]
ChrX:99662308 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509707]|Neurodevelopmental delay [RCV002274362] ChrX:100408501 [GRCh38]
ChrX:99663499 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621620]|not specified [RCV002271887] ChrX:100406674 [GRCh38]
ChrX:99661672 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002275662] ChrX:100406836 [GRCh38]
ChrX:99661834 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys) single nucleotide variant Abnormal cerebral morphology [RCV002276345]|Developmental and epileptic encephalopathy, 9 [RCV003774884] ChrX:100402619 [GRCh38]
ChrX:99657617 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002275666] ChrX:100408398 [GRCh38]
ChrX:99663396 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002291242] ChrX:100407788 [GRCh38]
ChrX:99662786 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002291246] ChrX:100408253..100408254 [GRCh38]
ChrX:99663251..99663252 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del deletion Developmental and epileptic encephalopathy, 9 [RCV002286470]   likely pathogenic
GRCh37/hg19 Xq21.31-22.1(chrX:90868186-99828437)x1 copy number loss See cases [RCV002287575] ChrX:90868186..99828437 [GRCh37]
ChrX:Xq21.31-22.1		 pathogenic
NM_001184880.2(PCDH19):c.1441G>A (p.Asp481Asn) single nucleotide variant not provided [RCV003236075] ChrX:100407157 [GRCh38]
ChrX:99662155 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.1861A>G (p.Asn621Asp) single nucleotide variant not provided [RCV003236157] ChrX:100406737 [GRCh38]
ChrX:99661735 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.778C>G (p.Leu260Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002281631] ChrX:100407820 [GRCh38]
ChrX:99662818 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1418T>A (p.Leu473His) single nucleotide variant not provided [RCV002260871] ChrX:100407180 [GRCh38]
ChrX:99662178 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002291240] ChrX:100408281 [GRCh38]
ChrX:99663279 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002291243] ChrX:100408003 [GRCh38]
ChrX:99663001 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002291244]|not provided [RCV004729143] ChrX:100407520 [GRCh38]
ChrX:99662518 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs) duplication Developmental and epileptic encephalopathy, 9 [RCV002291245] ChrX:100408439..100408440 [GRCh38]
ChrX:99663437..99663438 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1051_1054del (p.Val351fs) microsatellite See cases [RCV004584546] ChrX:100407544..100407547 [GRCh38]
ChrX:99662542..99662545 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622315] ChrX:100342025 [GRCh38]
ChrX:99597023 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_001184880.2(PCDH19):c.1157G>T (p.Cys386Phe) single nucleotide variant not provided [RCV002274539] ChrX:100407441 [GRCh38]
ChrX:99662439 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002291241] ChrX:100407758 [GRCh38]
ChrX:99662756 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002264841] ChrX:100407445 [GRCh38]
ChrX:99662443 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1644G>C (p.Thr548=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002771637] ChrX:100406954 [GRCh38]
ChrX:99661952 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002466348] ChrX:100406870 [GRCh38]
ChrX:99661868 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621654]|Inborn genetic diseases [RCV002417335] ChrX:100407524 [GRCh38]
ChrX:99662522 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1711G>C (p.Gly571Arg) single nucleotide variant not specified [RCV002470016] ChrX:100406887 [GRCh38]
ChrX:99661885 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003101099]|Inborn genetic diseases [RCV002417924]|not provided [RCV004721066] ChrX:100407515 [GRCh38]
ChrX:99662513 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1226G>C (p.Gly409Ala) single nucleotide variant Inborn genetic diseases [RCV003287748] ChrX:100407372 [GRCh38]
ChrX:99662370 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1431T>C (p.Ala477=) single nucleotide variant Inborn genetic diseases [RCV002392080] ChrX:100407167 [GRCh38]
ChrX:99662165 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621690]|not provided [RCV003237074] ChrX:100407508 [GRCh38]
ChrX:99662506 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002304028] ChrX:100403617 [GRCh38]
ChrX:99658615 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2466C>T (p.Pro822=) single nucleotide variant Inborn genetic diseases [RCV002430753] ChrX:100402674 [GRCh38]
ChrX:99657672 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.788G>A (p.Ser263Asn) single nucleotide variant Inborn genetic diseases [RCV002416584] ChrX:100407810 [GRCh38]
ChrX:99662808 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2675+1G>A single nucleotide variant Inborn genetic diseases [RCV002428838] ChrX:100350645 [GRCh38]
ChrX:99605643 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002303449] ChrX:100407811 [GRCh38]
ChrX:99662809 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003098310]|Inborn genetic diseases [RCV002375882] ChrX:100407937 [GRCh38]
ChrX:99662935 [GRCh37]
ChrX:Xq22.1		 benign|likely benign
NM_001184880.2(PCDH19):c.2367A>G (p.Val789=) single nucleotide variant Inborn genetic diseases [RCV002457731] ChrX:100402773 [GRCh38]
ChrX:99657771 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002301720] ChrX:100296368 [GRCh38]
ChrX:99551366 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002301956]|Inborn genetic diseases [RCV002400431]|not provided [RCV004572181] ChrX:100408435 [GRCh38]
ChrX:99663433 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
NM_001184880.2(PCDH19):c.582del (p.Ser195fs) deletion Inborn genetic diseases [RCV002353214] ChrX:100408016 [GRCh38]
ChrX:99663014 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002299759] ChrX:100407208 [GRCh38]
ChrX:99662206 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002301071] ChrX:100408064 [GRCh38]
ChrX:99663062 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1430C>A (p.Ala477Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002302274] ChrX:100407168 [GRCh38]
ChrX:99662166 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.145G>A (p.Ala49Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002302043] ChrX:100408453 [GRCh38]
ChrX:99663451 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002299507] ChrX:100408024 [GRCh38]
ChrX:99663022 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002880541] ChrX:100407223 [GRCh38]
ChrX:99662221 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2675+1G>T single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002463407] ChrX:100350645 [GRCh38]
ChrX:99605643 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002991419] ChrX:100402688 [GRCh38]
ChrX:99657686 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003076900]|not provided [RCV003229931] ChrX:100408492 [GRCh38]
ChrX:99663490 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1662C>G (p.Leu554=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002636242] ChrX:100406936 [GRCh38]
ChrX:99661934 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1716T>A (p.Thr572=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002775600] ChrX:100406882 [GRCh38]
ChrX:99661880 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002972326] ChrX:100407744 [GRCh38]
ChrX:99662742 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1659C>T (p.Ile553=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003014940] ChrX:100406939 [GRCh38]
ChrX:99661937 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1975C>T (p.Leu659=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002615465] ChrX:100406623 [GRCh38]
ChrX:99661621 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003073840] ChrX:100408069 [GRCh38]
ChrX:99663067 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003073849]|Inborn genetic diseases [RCV003060264] ChrX:100408561..100408562 [GRCh38]
ChrX:99663559..99663560 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2675+2T>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003075003] ChrX:100350644 [GRCh38]
ChrX:99605642 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.3028C>T (p.Pro1010Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003014225] ChrX:100296696 [GRCh38]
ChrX:99551694 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.661A>G (p.Thr221Ala) single nucleotide variant not provided [RCV002475439] ChrX:100407937 [GRCh38]
ChrX:99662935 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.999del (p.Val334fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002819172] ChrX:100407599 [GRCh38]
ChrX:99662597 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1165C>T (p.Leu389=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002819041] ChrX:100407433 [GRCh38]
ChrX:99662431 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002996537] ChrX:100406707 [GRCh38]
ChrX:99661705 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003074808] ChrX:100402562 [GRCh38]
ChrX:99657560 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1284C>A (p.Gly428=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002819107] ChrX:100407314 [GRCh38]
ChrX:99662312 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002996503] ChrX:100296839 [GRCh38]
ChrX:99551837 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003013335] ChrX:100408342 [GRCh38]
ChrX:99663340 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1371C>T (p.Tyr457=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002972023] ChrX:100407227 [GRCh38]
ChrX:99662225 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002976250] ChrX:100296452 [GRCh38]
ChrX:99551450 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.681G>A (p.Lys227=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002640540] ChrX:100407917 [GRCh38]
ChrX:99662915 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs) indel Developmental and epileptic encephalopathy, 9 [RCV003038748] ChrX:100406541..100407019 [GRCh38]
ChrX:99661539..99662017 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002889611] ChrX:100407869 [GRCh38]
ChrX:99662867 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003036709] ChrX:100407771..100407772 [GRCh38]
ChrX:99662769..99662770 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs) duplication Developmental and epileptic encephalopathy, 9 [RCV002824192] ChrX:100408085..100408086 [GRCh38]
ChrX:99663083..99663084 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002637486] ChrX:100296678 [GRCh38]
ChrX:99551676 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002659205] ChrX:100407568 [GRCh38]
ChrX:99662566 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003037005]|not provided [RCV003037006] ChrX:100403599 [GRCh38]
ChrX:99658597 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002976011]|not provided [RCV003443100] ChrX:100407366 [GRCh38]
ChrX:99662364 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003019696] ChrX:100406997 [GRCh38]
ChrX:99661995 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003037537] ChrX:100408458 [GRCh38]
ChrX:99663456 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2288+9G>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002820529] ChrX:100403515 [GRCh38]
ChrX:99658513 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002846284] ChrX:100407529 [GRCh38]
ChrX:99662527 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.309C>T (p.Leu103=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002847000] ChrX:100408289 [GRCh38]
ChrX:99663287 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3075C>T (p.His1025=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002695279] ChrX:100296649 [GRCh38]
ChrX:99551647 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003020662] ChrX:100402534 [GRCh38]
ChrX:99657532 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2617-19T>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002796653] ChrX:100350723 [GRCh38]
ChrX:99605721 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.515del (p.Glu172fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002847907] ChrX:100408083 [GRCh38]
ChrX:99663081 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002761344] ChrX:100296519 [GRCh38]
ChrX:99551517 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1768G>A (p.Val590Ile) single nucleotide variant Inborn genetic diseases [RCV002888399] ChrX:100406830 [GRCh38]
ChrX:99661828 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1430C>T (p.Ala477Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002620317] ChrX:100407168 [GRCh38]
ChrX:99662166 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.252del (p.Lys84fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002821068] ChrX:100408346 [GRCh38]
ChrX:99663344 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2848+7A>G single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002622758] ChrX:100341896 [GRCh38]
ChrX:99596894 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003018192] ChrX:100296550 [GRCh38]
ChrX:99551548 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002824911] ChrX:100402628 [GRCh38]
ChrX:99657626 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1249G>T (p.Asp417Tyr) single nucleotide variant not provided [RCV003037001] ChrX:100407349 [GRCh38]
ChrX:99662347 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002866919] ChrX:100296400 [GRCh38]
ChrX:99551398 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003100564] ChrX:100407999 [GRCh38]
ChrX:99662997 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.573G>A (p.Val191=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002932050] ChrX:100408025 [GRCh38]
ChrX:99663023 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002829430] ChrX:100407604 [GRCh38]
ChrX:99662602 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2258C>A (p.Thr753Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003056068] ChrX:100403554 [GRCh38]
ChrX:99658552 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002958066] ChrX:100296528 [GRCh38]
ChrX:99551526 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1581G>A (p.Lys527=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002712124] ChrX:100407017 [GRCh38]
ChrX:99662015 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003042230] ChrX:100296637 [GRCh38]
ChrX:99551635 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003059030] ChrX:100402809 [GRCh38]
ChrX:99657807 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2646C>T (p.Tyr882=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002953995] ChrX:100350675 [GRCh38]
ChrX:99605673 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003040520] ChrX:100407243..100407249 [GRCh38]
ChrX:99662241..99662247 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003006019] ChrX:100296455 [GRCh38]
ChrX:99551453 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV002890130] ChrX:100406588..100406589 [GRCh38]
ChrX:99661586..99661587 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002625806] ChrX:100406662 [GRCh38]
ChrX:99661660 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003057950] ChrX:100342021 [GRCh38]
ChrX:99597019 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003006136] ChrX:100408590 [GRCh38]
ChrX:99663588 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003039823] ChrX:100408483 [GRCh38]
ChrX:99663481 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3219C>T (p.Ser1073=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002624522] ChrX:100296505 [GRCh38]
ChrX:99551503 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter) single nucleotide variant not provided [RCV002508902] ChrX:100402574 [GRCh38]
ChrX:99657572 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002623991] ChrX:100406938 [GRCh38]
ChrX:99661936 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.439C>T (p.Arg147Cys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002801066] ChrX:100408159 [GRCh38]
ChrX:99663157 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003084342] ChrX:100402632 [GRCh38]
ChrX:99657630 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.958G>A (p.Asp320Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003022899] ChrX:100407640 [GRCh38]
ChrX:99662638 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003024369] ChrX:100406871 [GRCh38]
ChrX:99661869 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003025210] ChrX:100296747 [GRCh38]
ChrX:99551745 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002932126] ChrX:100407983 [GRCh38]
ChrX:99662981 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.959A>G (p.Asp320Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003024819] ChrX:100407639 [GRCh38]
ChrX:99662637 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003041460] ChrX:100407246 [GRCh38]
ChrX:99662244 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002623696] ChrX:100296503 [GRCh38]
ChrX:99551501 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003059403] ChrX:100406530 [GRCh38]
ChrX:99661528 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003059115] ChrX:100407591..100407597 [GRCh38]
ChrX:99662589..99662595 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003056990] ChrX:100403610 [GRCh38]
ChrX:99658608 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2230C>T (p.Pro744Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002671863] ChrX:100403582 [GRCh38]
ChrX:99658580 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003064748] ChrX:100408524 [GRCh38]
ChrX:99663522 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.804C>T (p.Gly268=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002967336] ChrX:100407794 [GRCh38]
ChrX:99662792 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.567A>G (p.Glu189=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003091368] ChrX:100408031 [GRCh38]
ChrX:99663029 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1045C>T (p.Leu349=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002835107] ChrX:100407553 [GRCh38]
ChrX:99662551 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1]) microsatellite Developmental and epileptic encephalopathy, 9 [RCV002675897] ChrX:100296414..100296422 [GRCh38]
ChrX:99551412..99551420 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002671261] ChrX:100408516 [GRCh38]
ChrX:99663514 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1803C>T (p.Gly601=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003027594] ChrX:100406795 [GRCh38]
ChrX:99661793 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1804C>A (p.Arg602=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003028217] ChrX:100406794 [GRCh38]
ChrX:99661792 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003086905] ChrX:100408364 [GRCh38]
ChrX:99663362 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter) duplication Developmental and epileptic encephalopathy, 9 [RCV002856880] ChrX:100296822..100296823 [GRCh38]
ChrX:99551820..99551821 [GRCh37]
ChrX:Xq22.1		 pathogenic|uncertain significance
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs) duplication Developmental and epileptic encephalopathy, 9 [RCV002833805] ChrX:100402788..100402789 [GRCh38]
ChrX:99657786..99657787 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1737C>A (p.Arg579=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002716801] ChrX:100406861 [GRCh38]
ChrX:99661859 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1029G>T (p.Pro343=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003089393] ChrX:100407569 [GRCh38]
ChrX:99662567 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003044953] ChrX:100402767 [GRCh38]
ChrX:99657765 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002962266] ChrX:100407846 [GRCh38]
ChrX:99662844 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.570C>G (p.Leu190=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002959263] ChrX:100408028 [GRCh38]
ChrX:99663026 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1252C>G (p.Gln418Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003087179] ChrX:100407346 [GRCh38]
ChrX:99662344 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1719C>T (p.Ala573=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002833509] ChrX:100406879 [GRCh38]
ChrX:99661877 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002630813] ChrX:100402673 [GRCh38]
ChrX:99657671 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002834283] ChrX:100402801 [GRCh38]
ChrX:99657799 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003048222] ChrX:100296519 [GRCh38]
ChrX:99551517 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003047402] ChrX:100408401 [GRCh38]
ChrX:99663399 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002806176] ChrX:100402640 [GRCh38]
ChrX:99657638 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003047412] ChrX:100407154 [GRCh38]
ChrX:99662152 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.636C>T (p.Asp212=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002577710] ChrX:100407962 [GRCh38]
ChrX:99662960 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1252C>A (p.Gln418Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002791964] ChrX:100407346 [GRCh38]
ChrX:99662344 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002630867] ChrX:100406568 [GRCh38]
ChrX:99661566 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs) indel Developmental and epileptic encephalopathy, 9 [RCV003048861] ChrX:100402558..100402559 [GRCh38]
ChrX:99657556..99657557 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1719C>G (p.Ala573=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002934000] ChrX:100406879 [GRCh38]
ChrX:99661877 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003064546] ChrX:100402838 [GRCh38]
ChrX:99657836 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002791700] ChrX:100341990 [GRCh38]
ChrX:99596988 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1823C>T (p.Thr608Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002962970] ChrX:100406775 [GRCh38]
ChrX:99661773 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1710C>T (p.Asn570=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003068030] ChrX:100406888 [GRCh38]
ChrX:99661886 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003066226] ChrX:100402742 [GRCh38]
ChrX:99657740 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1188G>T (p.Leu396=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002944217] ChrX:100407410 [GRCh38]
ChrX:99662408 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs) deletion Developmental and epileptic encephalopathy, 9 [RCV002814539] ChrX:100407137 [GRCh38]
ChrX:99662135 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002605673] ChrX:100407744 [GRCh38]
ChrX:99662742 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.43C>A (p.Leu15Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002653307] ChrX:100408555 [GRCh38]
ChrX:99663553 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV002942787] ChrX:100408054..100408055 [GRCh38]
ChrX:99663052..99663053 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002588743] ChrX:100296302 [GRCh38]
ChrX:99551300 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002607503] ChrX:100407407 [GRCh38]
ChrX:99662405 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1116G>A (p.Arg372=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003071621] ChrX:100407482 [GRCh38]
ChrX:99662480 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2676-17T>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003051016] ChrX:100342092 [GRCh38]
ChrX:99597090 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002587010] ChrX:100408238 [GRCh38]
ChrX:99663236 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002588018] ChrX:100402824 [GRCh38]
ChrX:99657822 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.13C>T (p.Leu5=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002635747] ChrX:100408585 [GRCh38]
ChrX:99663583 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003069876] ChrX:100407171 [GRCh38]
ChrX:99662169 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002588401] ChrX:100341983 [GRCh38]
ChrX:99596981 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002721816] ChrX:100407868 [GRCh38]
ChrX:99662866 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003069730] ChrX:100402785 [GRCh38]
ChrX:99657783 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002585486] ChrX:100402780 [GRCh38]
ChrX:99657778 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.594C>A (p.Arg198=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003051907] ChrX:100408004 [GRCh38]
ChrX:99663002 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3096C>T (p.Thr1032=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV002610573] ChrX:100296628 [GRCh38]
ChrX:99551626 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1481C>G (p.Pro494Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003093655] ChrX:100407117 [GRCh38]
ChrX:99662115 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003131884] ChrX:100406542 [GRCh38]
ChrX:99661540 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003131885] ChrX:100406468 [GRCh38]
ChrX:99661466 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1124A>G (p.Asp375Gly) single nucleotide variant not provided [RCV003223891] ChrX:100407474 [GRCh38]
ChrX:99662472 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3183G>C (p.Ala1061=) single nucleotide variant not provided [RCV003221448] ChrX:100296541 [GRCh38]
ChrX:99551539 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003224933] ChrX:100406454..100406455 [GRCh38]
ChrX:99661452..99661453 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003134766] ChrX:100408548 [GRCh38]
ChrX:99663546 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003134767] ChrX:100296723 [GRCh38]
ChrX:99551721 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003134768] ChrX:100296521 [GRCh38]
ChrX:99551519 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.97C>A (p.Gln33Lys) single nucleotide variant not provided [RCV003228488] ChrX:100408501 [GRCh38]
ChrX:99663499 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3432G>C (p.Lys1144Asn) single nucleotide variant not provided [RCV003228500] ChrX:100296292 [GRCh38]
ChrX:99551290 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer) deletion Developmental and epileptic encephalopathy, 9 [RCV003318477] ChrX:100402553 [GRCh38]
ChrX:99657551 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1228C>G (p.Arg410Gly) single nucleotide variant not provided [RCV003328831] ChrX:100407370 [GRCh38]
ChrX:99662368 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1237C>T (p.Arg413Cys) single nucleotide variant not provided [RCV003329019] ChrX:100407361 [GRCh38]
ChrX:99662359 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV003332735] ChrX:100408539 [GRCh38]
ChrX:99663537 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer) deletion Developmental and epileptic encephalopathy, 9 [RCV003333500] ChrX:100406749 [GRCh38]
ChrX:99661747 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.139C>T (p.Arg47Ter) single nucleotide variant Seizure [RCV003384296] ChrX:100408459 [GRCh38]
ChrX:99663457 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2861G>A (p.Gly954Glu) single nucleotide variant not provided [RCV003457612] ChrX:100296863 [GRCh38]
ChrX:99551861 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622737] ChrX:100341926 [GRCh38]
ChrX:99596924 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.879G>C (p.Pro293=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622881] ChrX:100407719 [GRCh38]
ChrX:99662717 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622884] ChrX:100408180 [GRCh38]
ChrX:99663178 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003623391] ChrX:100407060 [GRCh38]
ChrX:99662058 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623543] ChrX:100296484 [GRCh38]
ChrX:99551482 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623580] ChrX:100407844 [GRCh38]
ChrX:99662842 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622863] ChrX:100407434 [GRCh38]
ChrX:99662432 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.891G>A (p.Leu297=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622885] ChrX:100407707 [GRCh38]
ChrX:99662705 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623117] ChrX:100407234 [GRCh38]
ChrX:99662232 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003511236] ChrX:100407443 [GRCh38]
ChrX:99662441 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623021] ChrX:100407062 [GRCh38]
ChrX:99662060 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1485G>T (p.Ser495=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623039] ChrX:100407113 [GRCh38]
ChrX:99662111 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.478del (p.Ser160fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003623062] ChrX:100408120 [GRCh38]
ChrX:99663118 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2147+12T>C single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623073] ChrX:100406439 [GRCh38]
ChrX:99661437 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623269] ChrX:100407186 [GRCh38]
ChrX:99662184 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623384] ChrX:100296654 [GRCh38]
ChrX:99551652 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623875] ChrX:100341985 [GRCh38]
ChrX:99596983 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3300T>C (p.Asn1100=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003873257] ChrX:100296424 [GRCh38]
ChrX:99551422 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003623266] ChrX:100406529 [GRCh38]
ChrX:99661527 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2148-8C>T single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623180] ChrX:100403672 [GRCh38]
ChrX:99658670 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter) duplication Developmental and epileptic encephalopathy, 9 [RCV003623191] ChrX:100406890..100406891 [GRCh38]
ChrX:99661888..99661889 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.873C>A (p.Ile291=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511261] ChrX:100407725 [GRCh38]
ChrX:99662723 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1321G>T (p.Val441Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511351] ChrX:100407277 [GRCh38]
ChrX:99662275 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623234] ChrX:100402638 [GRCh38]
ChrX:99657636 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623554] ChrX:100296704 [GRCh38]
ChrX:99551702 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1500del (p.Met500fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003623314] ChrX:100407098 [GRCh38]
ChrX:99662096 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003623284] ChrX:100406883 [GRCh38]
ChrX:99661881 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623335] ChrX:100296662 [GRCh38]
ChrX:99551660 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623280] ChrX:100408268 [GRCh38]
ChrX:99663266 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2848+1G>A single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623396] ChrX:100341902 [GRCh38]
ChrX:99596900 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623722] ChrX:100407840 [GRCh38]
ChrX:99662838 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1313C>A (p.Ser438Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623730] ChrX:100407285 [GRCh38]
ChrX:99662283 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623425] ChrX:100406985 [GRCh38]
ChrX:99661983 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623470] ChrX:100408111 [GRCh38]
ChrX:99663109 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623426] ChrX:100403590 [GRCh38]
ChrX:99658588 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1974C>G (p.Val658=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623684] ChrX:100406624 [GRCh38]
ChrX:99661622 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623681] ChrX:100408308 [GRCh38]
ChrX:99663306 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623822] ChrX:100407232 [GRCh38]
ChrX:99662230 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623865] ChrX:100407279 [GRCh38]
ChrX:99662277 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622391] ChrX:100402694 [GRCh38]
ChrX:99657692 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622400] ChrX:100406880 [GRCh38]
ChrX:99661878 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.540G>T (p.Thr180=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622482] ChrX:100408058 [GRCh38]
ChrX:99663056 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622526] ChrX:100407494 [GRCh38]
ChrX:99662492 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622551] ChrX:100407251 [GRCh38]
ChrX:99662249 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622569] ChrX:100407319 [GRCh38]
ChrX:99662317 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del) deletion Developmental and epileptic encephalopathy, 9 [RCV003622678] ChrX:100407766..100407768 [GRCh38]
ChrX:99662764..99662766 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622407] ChrX:100341928 [GRCh38]
ChrX:99596926 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622701] ChrX:100408387 [GRCh38]
ChrX:99663385 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622562] ChrX:100408349 [GRCh38]
ChrX:99663347 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del) deletion Developmental and epileptic encephalopathy, 9 [RCV003622756] ChrX:100406599..100406625 [GRCh38]
ChrX:99661597..99661623 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.418G>C (p.Glu140Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622513] ChrX:100408180 [GRCh38]
ChrX:99663178 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.786del (p.Ser263fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003622512] ChrX:100407812 [GRCh38]
ChrX:99662810 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003622645] ChrX:100403539..100403546 [GRCh38]
ChrX:99658537..99658544 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003623173] ChrX:100408218..100408219 [GRCh38]
ChrX:99663216..99663217 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623215] ChrX:100402601 [GRCh38]
ChrX:99657599 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622632]|PCDH19-related disorder [RCV004731555] ChrX:100296659 [GRCh38]
ChrX:99551657 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003623561] ChrX:100296619 [GRCh38]
ChrX:99551617 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003880617] ChrX:100406736 [GRCh38]
ChrX:99661734 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.922G>T (p.Glu308Ter) single nucleotide variant Epileptic encephalopathy [RCV003485002] ChrX:100407676 [GRCh38]
ChrX:99662674 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.1018A>C (p.Asn340His) single nucleotide variant not provided [RCV003482783] ChrX:100407580 [GRCh38]
ChrX:99662578 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003389939] ChrX:100407730..100407731 [GRCh38]
ChrX:99662728..99662729 [GRCh37]
ChrX:Xq22.1		 not provided
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3		 pathogenic
NM_001184880.2(PCDH19):c.1014C>T (p.Asp338=) single nucleotide variant not provided [RCV003430621] ChrX:100407584 [GRCh38]
ChrX:99662582 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1081A>G (p.Ser361Gly) single nucleotide variant not provided [RCV003430620] ChrX:100407517 [GRCh38]
ChrX:99662515 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_001184880.2(PCDH19):c.2867A>G (p.His956Arg) single nucleotide variant not provided [RCV003442617] ChrX:100296857 [GRCh38]
ChrX:99551855 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2082A>T (p.Val694=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003880420] ChrX:100406516 [GRCh38]
ChrX:99661514 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1729A>G (p.Ile577Val) single nucleotide variant PCDH19-related disorder [RCV003427823] ChrX:100406869 [GRCh38]
ChrX:99661867 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003455859] ChrX:100408455..100408456 [GRCh38]
ChrX:99663453..99663454 [GRCh37]
ChrX:Xq22.1		 not provided
NM_001184880.2(PCDH19):c.339C>T (p.Cys113=) single nucleotide variant not provided [RCV003430622] ChrX:100408259 [GRCh38]
ChrX:99663257 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2073C>T (p.Ile691=) single nucleotide variant not provided [RCV003430619] ChrX:100406525 [GRCh38]
ChrX:99661523 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.930C>T (p.His310=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510054] ChrX:100407668 [GRCh38]
ChrX:99662666 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003829009] ChrX:100296658 [GRCh38]
ChrX:99551656 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003510100] ChrX:100408496..100408500 [GRCh38]
ChrX:99663494..99663498 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn) indel Developmental and epileptic encephalopathy, 9 [RCV003510354] ChrX:100406604..100406605 [GRCh38]
ChrX:99661602..99661603 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.11:g.(?_100366731)_(100369616_?)del deletion Autism spectrum disorder [RCV003883242] ChrX:100366731..100369616 [GRCh38]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003828537] ChrX:100408161 [GRCh38]
ChrX:99663159 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.357del (p.Lys120fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003509066] ChrX:100408241 [GRCh38]
ChrX:99663239 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003876887] ChrX:100406575 [GRCh38]
ChrX:99661573 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1518C>A (p.Val506=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510981] ChrX:100407080 [GRCh38]
ChrX:99662078 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509947] ChrX:100407226 [GRCh38]
ChrX:99662224 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509184] ChrX:100406674 [GRCh38]
ChrX:99661672 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511341] ChrX:100296750 [GRCh38]
ChrX:99551748 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511372] ChrX:100407728 [GRCh38]
ChrX:99662726 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del) deletion Developmental and epileptic encephalopathy, 9 [RCV003509385] ChrX:100407796..100407798 [GRCh38]
ChrX:99662794..99662796 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509421] ChrX:100406704 [GRCh38]
ChrX:99661702 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.678C>T (p.Ile226=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509262] ChrX:100407920 [GRCh38]
ChrX:99662918 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003826103]|not specified [RCV004690484] ChrX:100296520 [GRCh38]
ChrX:99551518 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510278] ChrX:100350675 [GRCh38]
ChrX:99605673 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003878732] ChrX:100296524 [GRCh38]
ChrX:99551522 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1620T>C (p.Leu540=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510377] ChrX:100406978 [GRCh38]
ChrX:99661976 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510380] ChrX:100406656 [GRCh38]
ChrX:99661654 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1263C>T (p.Leu421=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511032] ChrX:100407335 [GRCh38]
ChrX:99662333 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.957G>A (p.Lys319=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510445] ChrX:100407641 [GRCh38]
ChrX:99662639 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003509903] ChrX:100407624..100407625 [GRCh38]
ChrX:99662622..99662623 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003829130] ChrX:100407754 [GRCh38]
ChrX:99662752 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509864] ChrX:100296803 [GRCh38]
ChrX:99551801 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510467] ChrX:100407658 [GRCh38]
ChrX:99662656 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003486189] ChrX:100407511 [GRCh38]
ChrX:99662509 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510446] ChrX:100407805 [GRCh38]
ChrX:99662803 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2380GAG[1] (p.Glu795del) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003509834] ChrX:100402755..100402757 [GRCh38]
ChrX:99657753..99657755 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511104] ChrX:100407561 [GRCh38]
ChrX:99662559 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003881986] ChrX:100407086 [GRCh38]
ChrX:99662084 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003509868] ChrX:100407401..100407402 [GRCh38]
ChrX:99662399..99662400 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510524] ChrX:100406586 [GRCh38]
ChrX:99661584 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509065] ChrX:100407981 [GRCh38]
ChrX:99662979 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509062] ChrX:100407420 [GRCh38]
ChrX:99662418 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_001184880.2(PCDH19):c.735G>A (p.Val245=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509141] ChrX:100407863 [GRCh38]
ChrX:99662861 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509186] ChrX:100402705 [GRCh38]
ChrX:99657703 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509254] ChrX:100407346 [GRCh38]
ChrX:99662344 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003510120] ChrX:100407176..100407177 [GRCh38]
ChrX:99662174..99662175 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510232] ChrX:100402692 [GRCh38]
ChrX:99657690 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510279] ChrX:100408102 [GRCh38]
ChrX:99663100 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1456G>C (p.Gly486Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509061] ChrX:100407142 [GRCh38]
ChrX:99662140 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510008]|Inborn genetic diseases [RCV004369410] ChrX:100406905 [GRCh38]
ChrX:99661903 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1992T>G (p.Pro664=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510685] ChrX:100406606 [GRCh38]
ChrX:99661604 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511222] ChrX:100408044 [GRCh38]
ChrX:99663042 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1702C>T (p.Leu568=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511224] ChrX:100406896 [GRCh38]
ChrX:99661894 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2449dup (p.His817fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003510326] ChrX:100402690..100402691 [GRCh38]
ChrX:99657688..99657689 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510174] ChrX:100407152 [GRCh38]
ChrX:99662150 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003509333] ChrX:100402547..100402548 [GRCh38]
ChrX:99657545..99657546 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509355] ChrX:100407017 [GRCh38]
ChrX:99662015 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003881660] ChrX:100407980 [GRCh38]
ChrX:99662978 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2676-11C>T single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511400] ChrX:100342086 [GRCh38]
ChrX:99597084 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003509457] ChrX:100408447..100408448 [GRCh38]
ChrX:99663445..99663446 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510310] ChrX:100407895 [GRCh38]
ChrX:99662893 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1628T>C (p.Leu543Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509060] ChrX:100406970 [GRCh38]
ChrX:99661968 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1110G>A (p.Leu370=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509313] ChrX:100407488 [GRCh38]
ChrX:99662486 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs) deletion Developmental and epileptic encephalopathy, 9 [RCV003509417] ChrX:100407330..100407342 [GRCh38]
ChrX:99662328..99662340 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.966G>A (p.Gly322=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509964] ChrX:100407632 [GRCh38]
ChrX:99662630 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3019G>A (p.Asp1007Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003511130] ChrX:100296705 [GRCh38]
ChrX:99551703 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003509064] ChrX:100407469 [GRCh38]
ChrX:99662467 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs) duplication Developmental and epileptic encephalopathy, 9 [RCV003509063] ChrX:100407460..100407461 [GRCh38]
ChrX:99662458..99662459 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003510795] ChrX:100296519 [GRCh38]
ChrX:99551517 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1887C>T (p.Thr629=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003849839] ChrX:100406711 [GRCh38]
ChrX:99661709 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003856283] ChrX:100296606 [GRCh38]
ChrX:99551604 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003837089] ChrX:100407836 [GRCh38]
ChrX:99662834 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.378G>A (p.Ala126=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003823730] ChrX:100408220 [GRCh38]
ChrX:99663218 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622024] ChrX:100296371 [GRCh38]
ChrX:99551369 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003862682] ChrX:100402636 [GRCh38]
ChrX:99657634 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003862913] ChrX:100407989 [GRCh38]
ChrX:99662987 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.474A>G (p.Ser158=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003861686] ChrX:100408124 [GRCh38]
ChrX:99663122 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621835] ChrX:100406630 [GRCh38]
ChrX:99661628 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621842] ChrX:100408514 [GRCh38]
ChrX:99663512 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621927]|not provided [RCV004721210] ChrX:100408432 [GRCh38]
ChrX:99663430 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621921] ChrX:100407814 [GRCh38]
ChrX:99662812 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622016] ChrX:100407117 [GRCh38]
ChrX:99662115 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003859030] ChrX:100406681 [GRCh38]
ChrX:99661679 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003859028] ChrX:100406627 [GRCh38]
ChrX:99661625 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2979G>C (p.Leu993=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621886] ChrX:100296745 [GRCh38]
ChrX:99551743 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2260G>A (p.Glu754Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621893] ChrX:100403552 [GRCh38]
ChrX:99658550 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.210C>T (p.His70=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622028] ChrX:100408388 [GRCh38]
ChrX:99663386 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1101G>A (p.Val367=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622086] ChrX:100407497 [GRCh38]
ChrX:99662495 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621780] ChrX:100406927 [GRCh38]
ChrX:99661925 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003871281] ChrX:100296360 [GRCh38]
ChrX:99551358 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1785C>T (p.Tyr595=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621855] ChrX:100406813 [GRCh38]
ChrX:99661811 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1569C>A (p.His523Gln) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621929] ChrX:100407029 [GRCh38]
ChrX:99662027 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622035] ChrX:100296722 [GRCh38]
ChrX:99551720 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2617-19T>A single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003819870] ChrX:100350723 [GRCh38]
ChrX:99605721 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.336C>T (p.Ile112=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622060] ChrX:100408262 [GRCh38]
ChrX:99663260 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622081] ChrX:100407931 [GRCh38]
ChrX:99662929 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003862624] ChrX:100406694 [GRCh38]
ChrX:99661692 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003862015] ChrX:100408561 [GRCh38]
ChrX:99663559 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.831C>T (p.Phe277=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621731] ChrX:100407767 [GRCh38]
ChrX:99662765 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1432C>T (p.Arg478Cys) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621755] ChrX:100407166 [GRCh38]
ChrX:99662164 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621947] ChrX:100296308 [GRCh38]
ChrX:99551306 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.606G>A (p.Ser202=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621916] ChrX:100407992 [GRCh38]
ChrX:99662990 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.2288+16C>T single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003621973] ChrX:100403508 [GRCh38]
ChrX:99658506 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003622047] ChrX:100406603 [GRCh38]
ChrX:99661601 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_001184880.2(PCDH19):c.2920C>T (p.Arg974Trp) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003993647] ChrX:100296804 [GRCh38]
ChrX:99551802 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1387C>T (p.Gln463Ter) single nucleotide variant Seizure [RCV004547424] ChrX:100407211 [GRCh38]
ChrX:99662209 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.898del (p.Val300fs) deletion Seizure [RCV004547425] ChrX:100407700 [GRCh38]
ChrX:99662698 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.986_987del (p.His329fs) microsatellite Developmental and epileptic encephalopathy, 9 [RCV003988295] ChrX:100407611..100407612 [GRCh38]
ChrX:99662609..99662610 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1878C>A (p.Thr626=) single nucleotide variant PCDH19-related disorder [RCV003949468] ChrX:100406720 [GRCh38]
ChrX:99661718 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.1792delinsTT (p.Gly598fs) indel Seizure [RCV004547422] ChrX:100406806 [GRCh38]
ChrX:99661804 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV003887838] ChrX:100407649 [GRCh38]
ChrX:99662647 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1044G>A (p.Leu348=) single nucleotide variant PCDH19-related disorder [RCV003894456] ChrX:100407554 [GRCh38]
ChrX:99662552 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001184880.2(PCDH19):c.462C>A (p.Tyr154Ter) single nucleotide variant Seizure [RCV004556147] ChrX:100408136 [GRCh38]
ChrX:99663134 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2206T>C (p.Cys736Arg) single nucleotide variant Inborn genetic diseases [RCV004505074] ChrX:100403606 [GRCh38]
ChrX:99658604 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.431C>A (p.Pro144His) single nucleotide variant Inborn genetic diseases [RCV004505076] ChrX:100408167 [GRCh38]
ChrX:99663165 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.218A>G (p.Asp73Gly) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV004577174] ChrX:100408380 [GRCh38]
ChrX:99663378 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.901_906delinsGCCAGTGACAGT (p.Thr301_Gly302delinsAlaSerAspSer) indel Developmental and epileptic encephalopathy, 9 [RCV004577285] ChrX:100407692..100407697 [GRCh38]
ChrX:99662690..99662695 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.613A>C (p.Ser205Arg) single nucleotide variant not provided [RCV004588804] ChrX:100407985 [GRCh38]
ChrX:99662983 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2890C>A (p.Leu964Ile) single nucleotide variant Inborn genetic diseases [RCV004505075] ChrX:100296834 [GRCh38]
ChrX:99551832 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2071_2074del (p.Ile691fs) deletion not provided [RCV004573047] ChrX:100406524..100406527 [GRCh38]
ChrX:99661522..99661525 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.1648C>T (p.Arg550Trp) single nucleotide variant Inborn genetic diseases [RCV004505071] ChrX:100406950 [GRCh38]
ChrX:99661948 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1805G>A (p.Arg602Gln) single nucleotide variant Inborn genetic diseases [RCV004505072] ChrX:100406793 [GRCh38]
ChrX:99661791 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2135C>G (p.Thr712Ser) single nucleotide variant Inborn genetic diseases [RCV004505073] ChrX:100406463 [GRCh38]
ChrX:99661461 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(99551893_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV004581672] ChrX:99551275..99551893 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99657502)_(99663595_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV004581684] ChrX:99657502..99663595 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99640151)_(99663517_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV004581716] ChrX:99640151..99663517 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NC_000023.10:g.(?_99596881)_(99663595_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV004581661] ChrX:99596881..99663595 [GRCh37]
ChrX:Xq22.1		 pathogenic
NC_000023.10:g.(?_99596881)_(99663595_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV004581694] ChrX:99596881..99663595 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99654182)_(99661939_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV004581727] ChrX:99654182..99661939 [GRCh37]
ChrX:Xq22.1		 pathogenic
NC_000023.10:g.(?_99661873)_(99700255_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV004581705] ChrX:99661873..99700255 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.2327G>A (p.Ser776Asn) single nucleotide variant Inborn genetic diseases [RCV004664299] ChrX:100402813 [GRCh38]
ChrX:99657811 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(100515610_?)dup duplication not provided [RCV004580623] ChrX:99551275..100515610 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001184880.2(PCDH19):c.1882C>T (p.Arg628Cys) single nucleotide variant not provided [RCV004697942] ChrX:100406716 [GRCh38]
ChrX:99661714 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1739A>C (p.Asn580Thr) single nucleotide variant Inborn genetic diseases [RCV004653064] ChrX:100406859 [GRCh38]
ChrX:99661857 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1250A>G (p.Asp417Gly) single nucleotide variant not specified [RCV004702990] ChrX:100407348 [GRCh38]
ChrX:99662346 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1852G>A (p.Asp618Asn) single nucleotide variant PCDH19-related disorder [RCV004754138] ChrX:100406746 [GRCh38]
ChrX:99661744 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.48G>T (p.Trp16Cys) single nucleotide variant not provided [RCV004727297] ChrX:100408550 [GRCh38]
ChrX:99663548 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1801G>C (p.Gly601Arg) single nucleotide variant not provided [RCV004766324] ChrX:100406797 [GRCh38]
ChrX:99661795 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1804C>G (p.Arg602Gly) single nucleotide variant not provided [RCV004761176]   uncertain significance
NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV004759564]   pathogenic
NM_001184880.2(PCDH19):c.2705A>G (p.Asn902Ser) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV004764334]   likely pathogenic
NM_001184880.2(PCDH19):c.2893G>C (p.Gly965Arg) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV004764339]   likely pathogenic
NM_001184880.2(PCDH19):c.840C>G (p.Tyr280Ter) single nucleotide variant not provided [RCV004702078] ChrX:100407758 [GRCh38]
ChrX:99662756 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.3277G>C (p.Asp1093His) single nucleotide variant not provided [RCV004763138]   uncertain significance
NM_001184880.2(PCDH19):c.238CTG[3] (p.Leu81_Val82insLeu) microsatellite not provided [RCV004770597] ChrX:100408354..100408355 [GRCh38]
ChrX:99663352..99663353 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2261_2262del (p.Glu754fs) microsatellite Complex cortical dysplasia with other brain malformations 7 [RCV004771386] ChrX:100403550..100403551 [GRCh38]
ChrX:99658548..99658549 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2165C>T (p.Thr722Ile) single nucleotide variant not provided [RCV004775027] ChrX:100403647 [GRCh38]
ChrX:99658645 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1633A>T (p.Ser545Cys) single nucleotide variant not provided [RCV004776265] ChrX:100406965 [GRCh38]
ChrX:99661963 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.2561_2563dup (p.Asn854_Ser855insAsn) duplication not provided [RCV004763033]   uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_001184880.2(PCDH19):c.643G>C (p.Asp215His) single nucleotide variant not provided [RCV004702011] ChrX:100407955 [GRCh38]
ChrX:99662953 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1639G>A (p.Ala547Thr) single nucleotide variant not provided [RCV004763077]   uncertain significance
NM_001184880.2(PCDH19):c.388C>T (p.Pro130Ser) single nucleotide variant not provided [RCV004776227] ChrX:100408210 [GRCh38]
ChrX:99663208 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.1757T>C (p.Leu586Pro) single nucleotide variant Developmental and epileptic encephalopathy, 9 [RCV004764474] ChrX:100406841 [GRCh38]
ChrX:99661839 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001184880.2(PCDH19):c.964G>C (p.Gly322Arg) single nucleotide variant not provided [RCV004719570] ChrX:100407634 [GRCh38]
ChrX:99662632 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001184880.2(PCDH19):c.874G>A (p.Asp292Asn) single nucleotide variant not provided [RCV004719598] ChrX:100407724 [GRCh38]
ChrX:99662722 [GRCh37]
ChrX:Xq22.1		 uncertain significance
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.

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2364 2787 2225 4879 1619 2148 2 534 883 376 2206 6036 5400 38 3704 773 1692 1503 169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM975868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA500179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF676096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ064433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ064434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000255531   ⟹   ENSP00000255531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,291,646 - 100,408,597 (-)Ensembl
Ensembl Acc Id: ENST00000373034   ⟹   ENSP00000362125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,291,644 - 100,410,273 (-)Ensembl
Ensembl Acc Id: ENST00000420881   ⟹   ENSP00000400327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,291,644 - 100,408,597 (-)Ensembl
Ensembl Acc Id: ENST00000464981   ⟹   ENSP00000479805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,291,647 - 100,296,300 (-)Ensembl
Ensembl Acc Id: ENST00000636150   ⟹   ENSP00000490463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X98,734,021 - 98,852,681 (-)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
T2T-CHM13v2.0X98,734,021 - 98,852,681 (-)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
T2T-CHM13v2.0X98,734,021 - 98,852,681 (-)NCBI
Sequence:
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: Q68DT7 (UniProtKB/Swiss-Prot),   Q5JTG2 (UniProtKB/Swiss-Prot),   Q5JTG1 (UniProtKB/Swiss-Prot),   E9PAM6 (UniProtKB/Swiss-Prot),   B0LDS4 (UniProtKB/Swiss-Prot),   Q9P2N3 (UniProtKB/Swiss-Prot),   Q8TAB3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000479805   ⟸   ENST00000464981
Ensembl Acc Id: ENSP00000490463   ⟸   ENST00000636150
Ensembl Acc Id: ENSP00000255531   ⟸   ENST00000255531
Ensembl Acc Id: ENSP00000362125   ⟸   ENST00000373034
Ensembl Acc Id: ENSP00000400327   ⟸   ENST00000420881
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TAB3-F1-model_v2 AlphaFold Q8TAB3 1-1148 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14270 AgrOrtholog
COSMIC PCDH19 COSMIC
Ensembl Genes ENSG00000165194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000255531 ENTREZGENE
  ENST00000255531.8 UniProtKB/Swiss-Prot
  ENST00000373034 ENTREZGENE
  ENST00000373034.8 UniProtKB/Swiss-Prot
  ENST00000420881 ENTREZGENE
  ENST00000420881.6 UniProtKB/Swiss-Prot
  ENST00000464981.1 UniProtKB/TrEMBL
  ENST00000636150.1 UniProtKB/TrEMBL
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165194 GTEx
HGNC ID HGNC:14270 ENTREZGENE
Human Proteome Map PCDH19 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_N UniProtKB/Swiss-Prot
  Protocadherin/Cadherin-CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57526 UniProtKB/Swiss-Prot
NCBI Gene 57526 ENTREZGENE
OMIM 300460 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24028:SF40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_2 UniProtKB/Swiss-Prot
PharmGKB PA33003 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GVC8_HUMAN UniProtKB/TrEMBL
  A0A1Y8EN23_HUMAN UniProtKB/TrEMBL
  B0LDS4 ENTREZGENE
  B3KU71 ENTREZGENE, UniProtKB/TrEMBL
  E9PAM6 ENTREZGENE
  PCD19_HUMAN UniProtKB/Swiss-Prot
  Q5JTG1 ENTREZGENE
  Q5JTG2 ENTREZGENE
  Q68DT7 ENTREZGENE
  Q8TAB3 ENTREZGENE
  Q9P2N3 ENTREZGENE
UniProt Secondary B0LDS4 UniProtKB/Swiss-Prot
  E9PAM6 UniProtKB/Swiss-Prot
  Q5JTG1 UniProtKB/Swiss-Prot
  Q5JTG2 UniProtKB/Swiss-Prot
  Q68DT7 UniProtKB/Swiss-Prot
  Q9P2N3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PCDH19  protocadherin 19  EFMR  epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)  Data merged from RGD:1349722 737654 PROVISIONAL