| 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 |
