ClinVar Miner

List of variants in gene PCDH19 reported as pathogenic for Early infantile epileptic encephalopathy 9

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Total variants: 99
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HGVS dbSNP
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
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.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His)
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs)
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs)
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs)
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.1263_1264CA[1] (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter)
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs)
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.1479_1483del (p.Pro494fs)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs)
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs)
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs)
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) rs749662385
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs)
NM_001184880.2(PCDH19):c.1952_1953CT[3] (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs)
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter)
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter)
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter)
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.244dup (p.Val82fs)
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs)
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2553_2554CT[1] (p.Ser852fs)
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs)
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs)
NM_001184880.2(PCDH19):c.2617-1G>A rs1602600561
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2676-6A>G rs1602595136
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter)
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs)
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter)
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs)
NM_001184880.2(PCDH19):c.476del (p.Gly159fs)
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) rs796052837
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter)
NM_001184880.2(PCDH19):c.533del (p.Ile178fs)
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) rs1602637774
NM_001184880.2(PCDH19):c.564del (p.Glu189fs)
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.581del (p.Lys194fs)
NM_001184880.2(PCDH19):c.615del (p.Phe206fs)
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.659del (p.Gly220fs)
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) rs1602637452
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter)
NM_001184880.2(PCDH19):c.687del (p.Asp230fs)
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs)
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs)
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.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
PCDH19, 5-BP DUP, NT1036

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