ClinVar Miner

List of variants in gene PCDH19 reported as pathogenic

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Total variants: 95
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HGVS dbSNP
GRCh37/hg19 Xq22.1(chrX:99551100-99606139)x1
GRCh38/hg38 Xq21.33-22.1(chrX:97610521-100562572)x1
GRCh38/hg38 Xq21.33-22.1(chrX:98369057-100524621)x1
GRCh38/hg38 Xq21.33-22.1(chrX:99011557-100309964)x1
NC_000023.10:g.(?_99551255)_(99663615_?)del
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs) rs1555985372
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr) rs1555985368
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs) rs886044166
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134del (p.Gly379fs) rs796052830
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1263_1264CA[1] (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1308del (p.Lys437fs) rs796052831
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
NM_001184880.2(PCDH19):c.1376del (p.Gln459fs) rs796052829
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1417_1418CT[1] (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1521del (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter) rs796052817
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1683_1696del (p.Val562fs) rs796052832
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) rs1367823627
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs) rs796052833
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1952_1953CT[2] (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1952_1953CT[5] (p.Ala654fs) rs796052835
NM_001184880.2(PCDH19):c.1952dup (p.Leu652fs) rs796052834
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.207_208AC[1] (p.His70fs) rs1555985799
NM_001184880.2(PCDH19):c.2122A>T (p.Lys708Ter) rs1569314119
NM_001184880.2(PCDH19):c.2147+1G>A rs1555984947
NM_001184880.2(PCDH19):c.2147+2T>C rs1555984946
NM_001184880.2(PCDH19):c.218_219insG (p.Asp73fs) rs796052841
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2384del (p.Glu795fs) rs796052844
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2617-1G>A
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2676-6A>G
NM_001184880.2(PCDH19):c.2849-2A>G rs886039728
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) rs1569315950
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.499G>T (p.Glu167Ter) rs1555985623
NM_001184880.2(PCDH19):c.524del (p.Gly175fs) rs796052826
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter) rs1131691603
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.646_655del (p.Pro216fs) rs886039707
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.696T>A (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) rs1569315508
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.825C>A (p.Tyr275Ter) rs1057520761
NM_001184880.2(PCDH19):c.841del (p.Val281fs) rs1569315381
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>T (p.Glu31Ter) rs796052794
NM_001184880.2(PCDH19):c.955A>T (p.Lys319Ter) rs1569315186
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs) rs796052842
NM_001184880.2(PCDH19):c.971del (p.Asn324fs) rs1569315169
NM_001184880.2(PCDH19):c.976_981delinsTTCCC (p.Ile326fs) rs1131691509
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
PCDH19, 5-BP DUP, NT1036

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