Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) | 57526 | PCDH19 | Likely benign;Uncertain significance | 191333060 | RCV000147080; RCV000079607; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039; MedGen:CN169374 | X | 99551403 | 99551403 | NM_001184880.1:c.3319C>G | NP_001171809.1:p.Arg1107Gly | NC_000023.10:g.99551403G>C | - | C1848137 300088 Early infantile epileptic encephalopathy 9; CN169374 not specified | | |
NM_001105243.1(PCDH19):c.2834C>A (p.Ala945Glu) | 57526 | PCDH19 | Uncertain significance | 371109150 | RCV000147078; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99551747 | 99551747 | NM_001105243.1:c.2834C>A | NP_001098713.1:p.Ala945Glu | NC_000023.10:g.99551747G>T | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.2601A>G (p.Gln867=) | 57526 | PCDH19 | Uncertain significance | 61742914 | RCV000147076; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99597007 | 99597007 | NM_001105243.1:c.2601A>G | NP_001098713.1:p.Gln867= | NC_000023.10:g.99597007T>C | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.2258delA (p.Asn753Thrfs) | 57526 | PCDH19 | Pathogenic | 796052836 | RCV000192451; RCV000188397; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039; MedGen:CN221809 | X | 99657739 | 99657739 | NM_001105243.1:c.2258delA | NP_001098713.1:p.Asn753Thrfs | NC_000023.10:g.99657739delT | - | C1848137 300088 Early infantile epileptic encephalopathy 9; CN221809 not provided | | |
NM_001105243.1(PCDH19):c.2218C>T (p.Arg740Cys) | 57526 | PCDH19 | Uncertain significance | 376390125 | RCV000147075; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99657779 | 99657779 | NM_001105243.1:c.2218C>T | NP_001098713.1:p.Arg740Cys | NC_000023.10:g.99657779G>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001184880.1(PCDH19):c.2012C>G (p.Ser671Ter) | 57526 | PCDH19 | Pathogenic | 132630325 | RCV000011765; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99661584 | 99661584 | NM_001184880.1:c.2012C>G | NP_001171809.1:p.Ser671Ter | NC_000023.10:g.99661584G>C | OMIM Allelic Variant:300460.0004 | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.1969C>T (p.Leu657Phe) | 57526 | PCDH19 | Uncertain significance | 587784296 | RCV000147074; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99661627 | 99661627 | NM_001105243.1:c.1969C>T | NP_001098713.1:p.Leu657Phe | NC_000023.10:g.99661627G>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) | 57526 | PCDH19 | Benign;Uncertain significance | 192354176 | RCV000147072; RCV000079604; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039; MedGen:CN169374 | X | 99661913 | 99661913 | NM_001105243.1:c.1683G>A | NP_001098713.1:p.Pro561= | NC_000023.10:g.99661913C>T | - | C1848137 300088 Early infantile epileptic encephalopathy 9; CN169374 not specified | | |
NM_001184880.1(PCDH19):c.1671C>G (p.Asn557Lys) | 57526 | PCDH19 | Pathogenic | 267606933 | RCV000011769; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99661925 | 99661925 | NM_001184880.1:c.1671C>G | NP_001171809.1:p.Asn557Lys | NC_000023.10:g.99661925G>C | OMIM Allelic Variant:300460.0008 | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.1548C>T (p.Tyr516=) | 57526 | PCDH19 | Uncertain significance | 587784295 | RCV000147071; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99662048 | 99662048 | NM_001105243.1:c.1548C>T | NP_001098713.1:p.Tyr516= | NC_000023.10:g.99662048G>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001184880.1(PCDH19):c.1322T>A (p.Val441Glu) | 57526 | PCDH19 | Pathogenic | 132630323 | RCV000011763; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99662274 | 99662274 | NM_001184880.1:c.1322T>A | NP_001171809.1:p.Val441Glu | NC_000023.10:g.99662274A>T | OMIM Allelic Variant:300460.0002 | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.1091dupC (p.Tyr366Leufs) | 57526 | PCDH19 | Pathogenic | 758946412 | RCV000173240; RCV000188390; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039; MedGen:CN221809 | X | 99662505 | 99662505 | NM_001105243.1:c.1091dupC | NP_001098713.1:p.Tyr366Leufs | NC_000023.10:g.99662505dupG | - | C1848137 300088 Early infantile epileptic encephalopathy 9; CN221809 not provided | | |
NM_001184880.1(PCDH19):c.814C>T (p.Gln272Ter) | 57526 | PCDH19 | Pathogenic | 794726897 | RCV000173238; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99662782 | 99662782 | NM_001184880.1:c.814C>T | NP_001171809.1:p.Gln272Ter | NC_000023.10:g.99662782G>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) | 57526 | PCDH19 | Uncertain significance | 587784300 | RCV000147085; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99662806 | 99662806 | NM_001105243.1:c.790G>T | NP_001098713.1:p.Asp264Tyr | NC_000023.10:g.99662806C>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.695A>T (p.Asn232Ile) | 57526 | PCDH19 | Likely pathogenic | 587784299 | RCV000147084; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99662901 | 99662901 | NM_001105243.1:c.695A>T | NP_001098713.1:p.Asn232Ile | NC_000023.10:g.99662901T>A,NC_000023.10:g.99662901T>C | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.686C>T (p.Thr229Ile) | 57526 | PCDH19 | Uncertain significance | 587784298 | RCV000147083; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99662910 | 99662910 | NM_001105243.1:c.686C>T | NP_001098713.1:p.Thr229Ile | NC_000023.10:g.99662910G>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001105243.1(PCDH19):c.497A>T (p.Tyr166Phe) | 57526 | PCDH19 | Uncertain significance | 587784297 | RCV000147081; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99663099 | 99663099 | NM_001105243.1:c.497A>T | NP_001098713.1:p.Tyr166Phe | NC_000023.10:g.99663099T>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001184880.1(PCDH19):c.490C>T (p.Gln164Ter) | 57526 | PCDH19 | Pathogenic | 797045873 | RCV000193596; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99663106 | 99663106 | NM_001184880.1:c.490C>T | NP_001171809.1:p.Gln164Ter | NC_000023.10:g.99663106G>A | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001184880.1(PCDH19):c.457_458delGCinsAT (p.Ala153Ile) | 57526 | PCDH19 | Likely pathogenic | 863224907 | RCV000197764; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99663138 | 99663139 | NM_001184880.1:c.457_458delGCinsAT | NP_001171809.1:p.Ala153Ile | NC_000023.10:g.99663138_99663139delGCinsAT | - | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001184880.1(PCDH19):c.253C>T (p.Gln85Ter) | 57526 | PCDH19 | Pathogenic | 132630324 | RCV000011764; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99663343 | 99663343 | NM_001184880.1:c.253C>T | NP_001171809.1:p.Gln85Ter | NC_000023.10:g.99663343G>A | OMIM Allelic Variant:300460.0003 | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |
NM_001184880.1(PCDH19):c.142G>T (p.Glu48Ter) | 57526 | PCDH19 | Pathogenic | 132630326 | RCV000011767; | N | MedGen:C1848137,OMIM:300088,ORPHA:101039 | X | 99663454 | 99663454 | NM_001184880.1:c.142G>T | NP_001171809.1:p.Glu48Ter | NC_000023.10:g.99663454C>A | OMIM Allelic Variant:300460.0006 | C1848137 300088 Early infantile epileptic encephalopathy 9 | | |