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Gene: Mrps14 (mitochondrial ribosomal protein S14) Ictidomys tridecemlineatus

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Symbol:

Mrps14

Name:

mitochondrial ribosomal protein S14

RGD ID:

12511582

Description:

ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN mitochondrial translation (inferred); translation (inferred); ASSOCIATED WITH 1q24 Deletion Syndrome (ortholog); antithrombin III deficiency (ortholog); combined oxidative phosphorylation deficiency 38 (ortholog); FOUND IN cytoplasm (inferred); mitochondrial small ribosomal subunit (inferred); mitochondrion (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

28S ribosomal protein S14, mitochondrial

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	95,345,293 - 95,349,734 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936481	13,192,021 - 13,195,806 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936481	13,192,030 - 13,195,812 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Mrps14	Squirrel	1q24 Deletion Syndrome		ISO	RGD:1319772	8554872	ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome	ClinVar	PMID:21548129\|PMID:21681106\|PMID:25741868\|PMID:26333682
Mrps14	Squirrel	antithrombin III deficiency		ISO	RGD:1319772	8554872	ClinVar Annotator: match by term: Hereditary antithrombin deficiency	ClinVar
Mrps14	Squirrel	combined oxidative phosphorylation deficiency 38		ISO	RGD:1319772	8554872	ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 \| ClinVar Annotator: match by more ...	ClinVar	PMID:25741868\|PMID:28492532\|PMID:30358850
Mrps14	Squirrel	gastrointestinal stromal tumor		ISO	RGD:1319772	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
Mrps14	Squirrel	parathyroid carcinoma		ISO	RGD:1319772	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Mrps14	Squirrel	combined oxidative phosphorylation deficiency 38		ISO	RGD:1319772	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Mrps14	Squirrel	mitochondrial translation	involved_in	IEA	UniProtKB:O60783\|ensembl:ENSP00000420714	150520179		Ensembl	GO_REF:0000107
Mrps14	Squirrel	translation	involved_in	IEA	PANTHER:PTN000457014	150520179		TreeGrafter	GO_REF:0000118
Mrps14	Squirrel	translation	involved_in	IEA	InterPro:IPR001209	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Mrps14	Squirrel	cytoplasm	located_in	IEA	ARBA:ARBA00026971	150520179		UniProt	GO_REF:0000117
Mrps14	Squirrel	mitochondrial small ribosomal subunit	part_of	IEA	PANTHER:PTN000457014	150520179		TreeGrafter	GO_REF:0000118
Mrps14	Squirrel	mitochondrial small ribosomal subunit	part_of	IEA	UniProtKB:O60783\|ensembl:ENSP00000420714	150520179		Ensembl	GO_REF:0000107
Mrps14	Squirrel	mitochondrion	located_in	IEA	UniProtKB:O60783\|ensembl:ENSP00000420714	150520179		Ensembl	GO_REF:0000107
Mrps14	Squirrel	nuclear membrane	located_in	IEA	UniProtKB:O60783\|ensembl:ENSP00000420714	150520179		Ensembl	GO_REF:0000107
Mrps14	Squirrel	ribonucleoprotein complex	part_of	IEA	UniProtKB-KW:KW-0687	150520179		UniProt	GO_REF:0000043
Mrps14	Squirrel	ribosome	located_in	IEA	UniProtKB-KW:KW-0689	150520179		UniProt	GO_REF:0000043
Mrps14	Squirrel	ribosome	located_in	IEA	InterPro:IPR001209	150520179		InterPro	GO_REF:0000002
Mrps14	Squirrel	small ribosomal subunit	part_of	IEA	PANTHER:PTN000457014	150520179		TreeGrafter	GO_REF:0000118

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Mrps14	Squirrel	protein binding	enables	ISO	UniProtKB:Q810M6	9068941	PMID:25369936	UniProt	PMID:25369936
Mrps14	Squirrel	protein binding	enables	ISO	UniProtKB:P06396\|UniProtKB:P22607\|UniProtKB:Q9UMX0\|UniProtKB:Q9Y649	9068941	PMID:32814053	IntAct	PMID:32814053
Mrps14	Squirrel	structural constituent of ribosome	enables	IEA	PANTHER:PTN000457014	150520179		TreeGrafter	GO_REF:0000118
Mrps14	Squirrel	structural constituent of ribosome	enables	IEA	InterPro:IPR001209	150520179		InterPro	GO_REF:0000002

PMID:22301074	PMID:30032202

Mrps14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	95,345,293 - 95,349,734 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936481	13,192,021 - 13,195,806 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936481	13,192,030 - 13,195,812 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MRPS14
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	175,012,958 - 175,023,425 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	175,010,789 - 175,023,425 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	174,982,094 - 174,992,561 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	173,249,751 - 173,259,184 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	171,714,784 - 171,724,218	NCBI
Celera	1	148,092,797 - 148,102,230 (-)	NCBI		Celera
Cytogenetic Map	1	q25.1	NCBI
HuRef	1	146,208,425 - 146,218,922 (-)	NCBI		HuRef
CHM1_1	1	176,405,063 - 176,415,560 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	174,366,714 - 174,377,180 (-)	NCBI		T2T-CHM13v2.0

Mrps14
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	160,022,785 - 160,028,756 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	160,022,785 - 160,029,740 (+)	Ensembl		GRCm39 Ensembl
GRCm38	1	160,195,215 - 160,201,186 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	160,195,215 - 160,202,170 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	162,125,391 - 162,131,317 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	162,031,937 - 162,037,863 (+)	NCBI		MGSCv36	mm8
Celera	1	162,607,096 - 162,612,942 (+)	NCBI		Celera
Cytogenetic Map	1	H2.1	NCBI
cM Map	1	69.59	NCBI

Mrps14
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	74,962,597 - 74,968,344 (+)	NCBI		GRCr8
mRatBN7.2	13	72,429,168 - 72,434,915 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	72,408,558 - 72,434,915 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	75,013,704 - 75,019,477 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	76,306,228 - 76,311,975 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	73,565,777 - 73,571,524 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	77,940,454 - 77,946,201 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	77,940,454 - 77,946,201 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	82,847,625 - 82,853,372 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	75,614,841 - 75,620,588 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	75,629,051 - 75,634,776 (+)	NCBI
Celera	13	72,234,949 - 72,240,696 (+)	NCBI		Celera
Cytogenetic Map	13	q22	NCBI

Mrps14
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955406	14,844,301 - 14,847,389 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955406	14,844,301 - 14,847,389 (-)	NCBI	ChiLan1.0	ChiLan1.0

MRPS14
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	74,708,443 - 74,720,406 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	74,382,075 - 74,392,599 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	150,524,532 - 150,535,053 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	154,224,170 - 154,233,193 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	154,222,744 - 154,233,292 (-)	Ensembl	panpan1.1		panPan2

MRPS14
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	24,342,371 - 24,368,519 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	23,868,579 - 23,894,721 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	24,090,104 - 24,116,256 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	24,090,194 - 24,117,251 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	24,002,891 - 24,028,933 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	24,093,887 - 24,120,018 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	24,238,930 - 24,265,074 (+)	NCBI		UU_Cfam_GSD_1.0

MRPS14
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	117,097,849 - 117,137,110 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	117,097,841 - 117,137,188 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	128,704,598 - 128,715,495 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MRPS14
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	25	54,231,605 - 54,240,724 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	54,231,643 - 54,240,472 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	55,805,432 - 55,814,579 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mrps14
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624771	6,975,673 - 6,978,290 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624771	6,975,680 - 6,978,290 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

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	Developmental and epileptic encephalopathy, 9 [RCV005091194]\|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	Developmental and epileptic encephalopathy, 9 [RCV000147080]\|Inborn genetic diseases [RCV002316236]\|Self-limited epilepsy with centrotemporal spikes [RCV000656077]\|not provided [RCV000434675]\|not specified [RCV000079607]	ChrX:100296405 [GRCh38] ChrX:99551403 [GRCh37] ChrX:Xq22.1	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser)	single nucleotide variant	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.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.1548C>T (p.Tyr516=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV000147071]\|not specified [RCV004998301]	ChrX:100407050 [GRCh38] ChrX:99662048 [GRCh37] ChrX:Xq22.1	likely benign\|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.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.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.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.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	Developmental and epileptic encephalopathy, 9 [RCV005089945]\|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	Developmental and epileptic encephalopathy, 9 [RCV005089946]\|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]\|Seizure [RCV005241240]\|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	Glycine encephalopathy [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]\|PCDH19-related epilepsy syndrome [RCV005250032]\|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.3235C>A (p.Pro1079Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005089944]\|not specified [RCV000188320]	ChrX:100296489 [GRCh38] ChrX:99551487 [GRCh37] ChrX:Xq22.1	likely benign\|uncertain significance
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\|conflicting interpretations of pathogenicity\|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]\|Inborn genetic diseases [RCV004955311]\|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.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]\|Inborn genetic diseases [RCV004955312]\|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	Glycine encephalopathy [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	Developmental and epileptic encephalopathy, 9 [RCV005090699]\|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	Developmental and epileptic encephalopathy, 9 [RCV005091109]\|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	Developmental and epileptic encephalopathy, 9 [RCV005091195]\|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	Developmental and epileptic encephalopathy, 9 [RCV005102860]\|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]\|not specified [RCV005240315]	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]\|not specified [RCV005056429]	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]\|not provided [RCV004788125]	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	pathogenic\|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	Developmental and epileptic encephalopathy, 9 [RCV005102870]\|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	likely benign\|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	pathogenic\|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]\|not specified [RCV004800654]	ChrX:100350646 [GRCh38] ChrX:99605644 [GRCh37] ChrX:Xq22.1	conflicting interpretations of pathogenicity\|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]\|Inborn genetic diseases [RCV004958157]	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	pathogenic\|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]\|Inborn genetic diseases [RCV004958134]\|not provided [RCV005243370]	ChrX:100296450 [GRCh38] ChrX:99551448 [GRCh37] ChrX:Xq22.1	likely benign\|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]\|Glycine encephalopathy [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	likely benign\|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	Glycine encephalopathy [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\|no classifications from unflagged records
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV001322494]\|Glycine encephalopathy [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
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	Glycine encephalopathy [RCV001199419]	ChrX:100407819 [GRCh38] ChrX:99662817 [GRCh37] ChrX:Xq22.1	likely pathogenic
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)	single nucleotide variant	Glycine encephalopathy [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	Glycine encephalopathy [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.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	Developmental and epileptic encephalopathy, 9 [RCV005093464]\|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	Glycine encephalopathy [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	likely benign\|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	likely benign\|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]\|Glycine encephalopathy [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	Glycine encephalopathy [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	pathogenic\|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]\|not provided [RCV005054344]	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.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
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	conflicting interpretations of pathogenicity\|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]\|not provided [RCV005243507]	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.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]\|not specified [RCV005057377]	ChrX:100407709 [GRCh38] ChrX:99662707 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.768C>T (p.Pro256=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005094736]\|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	Developmental and epileptic encephalopathy, 9 [RCV005095039]\|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	Developmental and epileptic encephalopathy, 9 [RCV005095242]\|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]\|Inborn genetic diseases [RCV004955871]	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]\|Inborn genetic diseases [RCV004953164]	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.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.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]\|not specified [RCV004801165]	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
NM_001184880.2(PCDH19):c.3199T>G (p.Ser1067Ala)	single nucleotide variant	not provided [RCV004777206]	ChrX:100296525 [GRCh38] ChrX:99551523 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.3182C>T (p.Ala1061Val)	single nucleotide variant	not provided [RCV004784845]	ChrX:100296542 [GRCh38] ChrX:99551540 [GRCh37] ChrX:Xq22.1	uncertain significance
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.2849-12T>C	single nucleotide variant	not provided [RCV004778536]	ChrX:100296887 [GRCh38] ChrX:99551885 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1616G>T (p.Gly539Val)	single nucleotide variant	not provided [RCV004778620]	ChrX:100406982 [GRCh38] ChrX:99661980 [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.1914T>G (p.Tyr638Ter)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005105111]\|not provided [RCV004791088]	ChrX:100406684 [GRCh38] ChrX:99661682 [GRCh37] ChrX:Xq22.1	pathogenic\|likely pathogenic
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]\|not specified [RCV004782918]	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]\|not provided [RCV004801279]	ChrX:100350644 [GRCh38] ChrX:99605642 [GRCh37] ChrX:Xq22.1	pathogenic\|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	pathogenic\|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	Developmental and epileptic encephalopathy, 9 [RCV004798965]	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]\|not provided [RCV005233099]	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	pathogenic\|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.1352C>T (p.Pro451Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV003041460]\|not provided [RCV005235680]	ChrX:100407246 [GRCh38] ChrX:99662244 [GRCh37] ChrX:Xq22.1	pathogenic\|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.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.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	pathogenic\|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.1191G>A (p.Gln397=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV002607503]	ChrX:100407407 [GRCh38] ChrX:99662405 [GRCh37] ChrX:Xq22.1	likely benign\|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.2675+1G>C	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV004796444]	ChrX:100350645 [GRCh38] ChrX:99605643 [GRCh37] ChrX:Xq22.1	pathogenic
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 Xq21.33-22.3(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	Developmental and epileptic encephalopathy, 9 [RCV005100077]\|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	Developmental and epileptic encephalopathy, 9 [RCV005100078]\|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]\|not provided [RCV005242414]	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.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	pathogenic\|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]\|not provided [RCV005242416]	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.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.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
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.1863T>C (p.Asn621=)	single nucleotide variant	not provided [RCV004810430]	ChrX:100406735 [GRCh38] ChrX:99661733 [GRCh37] ChrX:Xq22.1	likely benign
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\|uncertain significance
NM_001184880.2(PCDH19):c.2893G>C (p.Gly965Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV004764339]		likely pathogenic\|uncertain significance
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]\|not provided [RCV004780755]	ChrX:100403550..100403551 [GRCh38] ChrX:99658548..99658549 [GRCh37] ChrX:Xq22.1	pathogenic\|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	Developmental and epileptic encephalopathy, 9 [RCV005104937]\|not provided [RCV004763033]		uncertain significance
NM_001184880.2(PCDH19):c.2367A>C (p.Val789=)	single nucleotide variant	not provided [RCV004809094]	ChrX:100402773 [GRCh38] ChrX:99657771 [GRCh37] ChrX:Xq22.1	likely benign
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
NM_001184880.2(PCDH19):c.1489G>T (p.Val497Leu)	single nucleotide variant	Inborn genetic diseases [RCV004957045]	ChrX:100407109 [GRCh38] ChrX:99662107 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2051C>T (p.Ala684Val)	single nucleotide variant	Inborn genetic diseases [RCV004957050]	ChrX:100406547 [GRCh38] ChrX:99661545 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1642A>G (p.Thr548Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005041939]	ChrX:100406956 [GRCh38] ChrX:99661954 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:91004293-111532472)x1	copy number loss	not provided [RCV004819414]	ChrX:91004293..111532472 [GRCh37] ChrX:Xq21.31-23	pathogenic
GRCh37/hg19 Xq21.2-22.3(chrX:84607697-104579525)x1	copy number loss	not provided [RCV004819413]	ChrX:84607697..104579525 [GRCh37] ChrX:Xq21.2-22.3	pathogenic
NM_001184880.2(PCDH19):c.845A>G (p.Asn282Ser)	single nucleotide variant	not provided [RCV005001677]	ChrX:100407753 [GRCh38] ChrX:99662751 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1	copy number loss	not provided [RCV004819415]	ChrX:92712119..129831493 [GRCh37] ChrX:Xq21.32-26.1	pathogenic
NM_001184880.2(PCDH19):c.2221_2222delinsCT (p.Ser741Leu)	indel	Developmental and epileptic encephalopathy, 9 [RCV005208322]	ChrX:100403590..100403591 [GRCh38] ChrX:99658588..99658589 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.93G>A (p.Glu31=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005137592]	ChrX:100408505 [GRCh38] ChrX:99663503 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1351C>A (p.Pro451Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107214]	ChrX:100407247 [GRCh38] ChrX:99662245 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2952T>C (p.Pro984=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005130655]	ChrX:100296772 [GRCh38] ChrX:99551770 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1804del (p.Arg602fs)	deletion	Developmental and epileptic encephalopathy, 9 [RCV005142846]	ChrX:100406794 [GRCh38] ChrX:99661792 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1305del (p.Ser435fs)	deletion	Developmental and epileptic encephalopathy, 9 [RCV005135800]	ChrX:100407293 [GRCh38] ChrX:99662291 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1069G>T (p.Glu357Ter)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005121780]	ChrX:100407529 [GRCh38] ChrX:99662527 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1492C>T (p.Arg498Trp)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005067540]	ChrX:100407106 [GRCh38] ChrX:99662104 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1303_1304del (p.Ser435fs)	microsatellite	Developmental and epileptic encephalopathy, 9 [RCV005119821]	ChrX:100407294..100407295 [GRCh38] ChrX:99662292..99662293 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.3070G>C (p.Asp1024His)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005111623]	ChrX:100296654 [GRCh38] ChrX:99551652 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1609G>A (p.Asp537Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107211]	ChrX:100406989 [GRCh38] ChrX:99661987 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1296G>A (p.Met432Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107215]	ChrX:100407302 [GRCh38] ChrX:99662300 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1060G>C (p.Glu354Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107216]	ChrX:100407538 [GRCh38] ChrX:99662536 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.851G>T (p.Arg284Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107217]	ChrX:100407747 [GRCh38] ChrX:99662745 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1755C>T (p.Tyr585=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005065523]	ChrX:100406843 [GRCh38] ChrX:99661841 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.758C>G (p.Pro253Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107219]	ChrX:100407840 [GRCh38] ChrX:99662838 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.766C>T (p.Pro256Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107218]	ChrX:100407832 [GRCh38] ChrX:99662830 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.385T>C (p.Phe129Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107220]	ChrX:100408213 [GRCh38] ChrX:99663211 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2547C>T (p.Tyr849=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005110493]	ChrX:100402593 [GRCh38] ChrX:99657591 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2148-12del	deletion	Developmental and epileptic encephalopathy, 9 [RCV005110658]	ChrX:100403676 [GRCh38] ChrX:99658674 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2488_2489del (p.Ser830fs)	microsatellite	Developmental and epileptic encephalopathy, 9 [RCV005111292]	ChrX:100402651..100402652 [GRCh38] ChrX:99657649..99657650 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.3130T>A (p.Cys1044Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005111622]	ChrX:100296594 [GRCh38] ChrX:99551592 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2295del (p.Glu766fs)	deletion	Developmental and epileptic encephalopathy, 9 [RCV005117982]	ChrX:100402845 [GRCh38] ChrX:99657843 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1241A>G (p.Glu414Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005108361]	ChrX:100407357 [GRCh38] ChrX:99662355 [GRCh37] ChrX:Xq22.1	likely pathogenic
NM_001184880.2(PCDH19):c.1468T>G (p.Tyr490Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107213]	ChrX:100407130 [GRCh38] ChrX:99662128 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.340G>C (p.Val114Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107222]	ChrX:100408258 [GRCh38] ChrX:99663256 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2848+18G>T	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005130733]	ChrX:100341885 [GRCh38] ChrX:99596883 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.3394G>A (p.Gly1132Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005111620]	ChrX:100296330 [GRCh38] ChrX:99551328 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1260C>T (p.Asn420=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005115147]	ChrX:100407338 [GRCh38] ChrX:99662336 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.136G>A (p.Ala46Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005107223]	ChrX:100408462 [GRCh38] ChrX:99663460 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.3226C>A (p.Pro1076Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005111621]	ChrX:100296498 [GRCh38] ChrX:99551496 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1653C>T (p.Val551=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005118721]	ChrX:100406945 [GRCh38] ChrX:99661943 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2640dup (p.Asn881fs)	duplication	Developmental and epileptic encephalopathy, 9 [RCV005132637]	ChrX:100350680..100350681 [GRCh38] ChrX:99605678..99605679 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1170del (p.Asn391fs)	deletion	Developmental and epileptic encephalopathy, 9 [RCV005121994]	ChrX:100407428 [GRCh38] ChrX:99662426 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.980C>A (p.Pro327Gln)	single nucleotide variant	not provided [RCV005227430]	ChrX:100407618 [GRCh38] ChrX:99662616 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.3044dup (p.Ala1016fs)	duplication	Developmental and epileptic encephalopathy, 9 [RCV005119889]	ChrX:100296679..100296680 [GRCh38] ChrX:99551677..99551678 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.3207C>T (p.Leu1069=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005127574]	ChrX:100296517 [GRCh38] ChrX:99551515 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1867G>T (p.Glu623Ter)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005129864]	ChrX:100406731 [GRCh38] ChrX:99661729 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.619C>G (p.Arg207Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005062522]	ChrX:100407979 [GRCh38] ChrX:99662977 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1785C>A (p.Tyr595Ter)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005206966]	ChrX:100406813 [GRCh38] ChrX:99661811 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.720G>A (p.Glu240=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005145603]	ChrX:100407878 [GRCh38] ChrX:99662876 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1551G>C (p.Ala517=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005190963]	ChrX:100407047 [GRCh38] ChrX:99662045 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1128C>G (p.Arg376=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005191635]	ChrX:100407470 [GRCh38] ChrX:99662468 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2148-18C>T	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005071411]	ChrX:100403682 [GRCh38] ChrX:99658680 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1493G>A (p.Arg498Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005182736]	ChrX:100407105 [GRCh38] ChrX:99662103 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2733G>T (p.Glu911Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005169489]	ChrX:100342018 [GRCh38] ChrX:99597016 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2676-15C>T	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005178970]	ChrX:100342090 [GRCh38] ChrX:99597088 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2119A>G (p.Asn707Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005193965]	ChrX:100406479 [GRCh38] ChrX:99661477 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1091C>T (p.Pro364Leu)	single nucleotide variant	not provided [RCV005236078]	ChrX:100407507 [GRCh38] ChrX:99662505 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2675+5G>C	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005205009]	ChrX:100350641 [GRCh38] ChrX:99605639 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1006G>A (p.Val336Met)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005245580]	ChrX:100407592 [GRCh38] ChrX:99662590 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.274C>T (p.Leu92=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005084452]	ChrX:100408324 [GRCh38] ChrX:99663322 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.682G>T (p.Val228Leu)	single nucleotide variant	not provided [RCV005244739]	ChrX:100407916 [GRCh38] ChrX:99662914 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xq21.33-22.1(chrX:96380000-100120000)x1	copy number loss	See cases [RCV005244178]	ChrX:96380000..100120000 [GRCh37] ChrX:Xq21.33-22.1	pathogenic
NM_001184880.2(PCDH19):c.1636_1639dup (p.Ala547fs)	duplication	not provided [RCV005243024]	ChrX:100406958..100406959 [GRCh38] ChrX:99661956..99661957 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.981G>A (p.Pro327=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005191356]	ChrX:100407617 [GRCh38] ChrX:99662615 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.3007G>A (p.Glu1003Lys)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005075961]	ChrX:100296717 [GRCh38] ChrX:99551715 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.20C>G (p.Pro7Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005083127]	ChrX:100408578 [GRCh38] ChrX:99663576 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2933C>G (p.Pro978Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005081819]	ChrX:100296791 [GRCh38] ChrX:99551789 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1667T>C (p.Val556Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005153693]	ChrX:100406931 [GRCh38] ChrX:99661929 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2289-8T>C	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005077653]	ChrX:100402859 [GRCh38] ChrX:99657857 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2147+18T>C	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005075588]	ChrX:100406433 [GRCh38] ChrX:99661431 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.27G>A (p.Leu9=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005204547]	ChrX:100408571 [GRCh38] ChrX:99663569 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2490del (p.Ser830fs)	deletion	Developmental and epileptic encephalopathy, 9 [RCV005204866]	ChrX:100402650 [GRCh38] ChrX:99657648 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1649G>A (p.Arg550Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005205585]	ChrX:100406949 [GRCh38] ChrX:99661947 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2849-8C>G	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005197591]	ChrX:100296883 [GRCh38] ChrX:99551881 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1792G>A (p.Gly598Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005145289]	ChrX:100406806 [GRCh38] ChrX:99661804 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2046T>G (p.Ile682Met)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005073230]	ChrX:100406552 [GRCh38] ChrX:99661550 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1126C>G (p.Arg376Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005161560]	ChrX:100407472 [GRCh38] ChrX:99662470 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.21G>A (p.Pro7=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005075221]	ChrX:100408577 [GRCh38] ChrX:99663575 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.1911C>T (p.Ser637=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005155238]	ChrX:100406687 [GRCh38] ChrX:99661685 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.3009G>A (p.Glu1003=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005192563]	ChrX:100296715 [GRCh38] ChrX:99551713 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.226C>T (p.Pro76Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005176793]	ChrX:100408372 [GRCh38] ChrX:99663370 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.417G>C (p.Ser139=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005185973]	ChrX:100408181 [GRCh38] ChrX:99663179 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2034C>T (p.Ser678=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005179709]	ChrX:100406564 [GRCh38] ChrX:99661562 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.2021C>T (p.Ser674Phe)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005179875]	ChrX:100406577 [GRCh38] ChrX:99661575 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.369C>T (p.Asn123=)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005180624]	ChrX:100408229 [GRCh38] ChrX:99663227 [GRCh37] ChrX:Xq22.1	likely benign
NM_001184880.2(PCDH19):c.215T>G (p.Val72Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005199117]	ChrX:100408383 [GRCh38] ChrX:99663381 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2410T>G (p.Cys804Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005157603]	ChrX:100402730 [GRCh38] ChrX:99657728 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1793dup (p.Glu599fs)	duplication	Developmental and epileptic encephalopathy, 9 [RCV005181206]	ChrX:100406804..100406805 [GRCh38] ChrX:99661802..99661803 [GRCh37] ChrX:Xq22.1	pathogenic
NM_001184880.2(PCDH19):c.1859T>C (p.Val620Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005174017]	ChrX:100406739 [GRCh38] ChrX:99661737 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1356C>G (p.His452Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005189579]	ChrX:100407242 [GRCh38] ChrX:99662240 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2993C>T (p.Thr998Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005152791]	ChrX:100296731 [GRCh38] ChrX:99551729 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.1898G>A (p.Ser633Asn)	single nucleotide variant	Inborn genetic diseases [RCV004957049]	ChrX:100406700 [GRCh38] ChrX:99661698 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001184880.2(PCDH19):c.758C>T (p.Pro253Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV005105239]\|not provided [RCV004812898]	ChrX:100407840 [GRCh38] ChrX:99662838 [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.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
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.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.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.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.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.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.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.3422A>G (p.Lys1141Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 9 [RCV002588743]	ChrX:100296302 [GRCh38] ChrX:99551300 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	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.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.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.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
NM_001184880.2(PCDH19):c.2582C>T (p.Pro861Leu)	single nucleotide variant	Inborn genetic diseases [RCV004957046]	ChrX:100402558 [GRCh38] ChrX:99657556 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.760A>G (p.Asn254Asp)	single nucleotide variant	Inborn genetic diseases [RCV004957047]	ChrX:100407838 [GRCh38] ChrX:99662836 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_001184880.2(PCDH19):c.2114G>T (p.Arg705Leu)	single nucleotide variant	Inborn genetic diseases [RCV004957048]	ChrX:100406484 [GRCh38] ChrX:99661482 [GRCh37] ChrX:Xq22.1	uncertain significance

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	XM_005319777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010004404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSTOT00000021185 ⟹ ENSSTOP00000014866

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936481	13,192,270 - 13,195,535 (+)	Ensembl

Ensembl Acc Id:

ENSSTOT00000031906 ⟹ ENSSTOP00000028977

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936481	13,192,021 - 13,195,806 (+)	Ensembl

RefSeq Acc Id:

XM_005319777 ⟹ XP_005319834

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024409344	95,345,293 - 95,349,734 (+)	NCBI
SpeTri2.0	NW_004936481	13,192,030 - 13,195,812 (+)	NCBI

Sequence:

show sequence

ATAAAGTTGCGGCGGACAAGATGGCGGCTTCCATGCTGGGCGCGCTGCTGCGGACGTTCCGGCAGGTGGTTCCTTCATTAGCTTCACGCCAAGTCCGAGGTTACTATGTAGACTGGAAAATGTTGCGT
GATGTGAAGAGACGAAAAATGGCCTATGAATATGCAGATGACAGATTGCGGATCAATTCCCTCCGGAAGAATACCATTTTGCCCAAAGATCTTCAGGAAATGGCTGATAAAGAAATTGCAGCCCTTCC
CCGGGATAGCTGTCCTGTTAGGATTAGAAATCGATGTGTTATGACATCCCGTCCACGTGGTGTAAAGCGACGCTGGAGGCTTAGTCGAATCGTCTTCCGACACTTAGCTGACCATGGGCAACTTTCTG
GGGTCCAGCGAGCAATGTGGTAAAAATAAGCTCCAGAACCAACTGAACTTTCAGGGAAGAAGAGACTTTTTTTGTGATGCTGTGGATCAAACCCAGAGCTTCCCACATGCCAGGCAAGTGCTCTGCTA
TTGAGCCACATCCCCAATCTGAGACCCTAGCTACATATAGTTAAATTACTTTCAAATTTTAAGGAATTTGGATATTTCCTTCTGTCATTAAGTTCTCTAAAAGATTAAACATACTGTTCATATACATG
ATGTAAAGAGTAGAGCAGGCAATAAAAAGTATTTTCTATGGAAA

hide sequence


Protein RefSeqs	XP_005319834	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000014866.2
	ENSSTOP00000028977.1
GenBank Protein	KAG3258678	(Get FASTA)	NCBI Sequence Viewer
	KAG3258679	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_005319834 ⟸ XM_005319777
- UniProtKB:	A0A287D5W5 (UniProtKB/TrEMBL), I3MRX1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAASMLGALLRTFRQVVPSLASRQVRGYYVDWKMLRDVKRRKMAYEYADDRLRINSLRKNTILPKDLQEMADKEIAALPRDSCPVRIRNRCVMTSRPRGVKRRWRLSRIVFRHLADHGQLSGVQRAMW hide sequence

Ensembl Acc Id:

ENSSTOP00000014866 ⟸ ENSSTOT00000021185

Ensembl Acc Id:

ENSSTOP00000028977 ⟸ ENSSTOT00000031906

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000025353	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000021185.2	UniProtKB/TrEMBL
	ENSSTOT00000031906.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.287.1480	UniProtKB/TrEMBL
InterPro	Ribosomal_S14	UniProtKB/TrEMBL
NCBI Gene	Mrps14	ENTREZGENE
PANTHER	28S RIBOSOMAL PROTEIN S14, MITOCHONDRIAL	UniProtKB/TrEMBL
	PTHR19836	UniProtKB/TrEMBL
Pfam	Ribosomal_S14	UniProtKB/TrEMBL
Superfamily-SCOP	Glucocorticoid receptor-like (DNA-binding domain)	UniProtKB/TrEMBL
UniProt	A0A287D5W5	ENTREZGENE, UniProtKB/TrEMBL
	I3MRX1	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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