ClinVar Miner

List of variants in gene PCDH19

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 399
Download table as spreadsheet
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)_(99551893_?)del
NC_000023.10:g.(?_99551255)_(99597093_?)del
NC_000023.10:g.(?_99551255)_(99663615_?)del
NC_000023.11:g.100410287G>A
NC_000023.11:g.100410335C>G
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.1(PCDH19):c.2676-1_2683delGCAGCTCCA rs1064794781
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.*8T>C rs145987305
NM_001184880.2(PCDH19):c.-119C>T
NM_001184880.2(PCDH19):c.-38G>T rs760863131
NM_001184880.2(PCDH19):c.-38del rs1064795564
NM_001184880.2(PCDH19):c.-42del rs1555985910
NM_001184880.2(PCDH19):c.-47C>T rs1057523140
NM_001184880.2(PCDH19):c.-9C>T rs773547239
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
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>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
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.1079A>C (p.Glu360Ala) rs1555985327
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs) rs886044166
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=) rs199879056
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.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134del (p.Gly379fs) rs796052830
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser)
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.2(PCDH19):c.117T>A (p.Ile39=) rs750597794
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606
NM_001184880.2(PCDH19):c.1241A>T (p.Glu414Val) rs796052814
NM_001184880.2(PCDH19):c.1263_1264CA[1] (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.128C>T (p.Ala43Val) rs1064795511
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1308del (p.Lys437fs) rs796052831
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1351C>T (p.Pro451Ser) rs796052816
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1355A>C (p.His452Pro) rs777851773
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg)
NM_001184880.2(PCDH19):c.1372T>C (p.Tyr458His) rs1064794762
NM_001184880.2(PCDH19):c.1376del (p.Gln459fs) rs796052829
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) rs200637767
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
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.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1447G>A (p.Gly483Ser) rs776683765
NM_001184880.2(PCDH19):c.1465T>C (p.Ser489Pro) rs1555985153
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1478_1485del (p.Val493fs) rs1131692002
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215
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.1548C>T (p.Tyr516=) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) rs753119035
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=)
NM_001184880.2(PCDH19):c.1612G>A (p.Gly538Ser)
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter) rs796052817
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1683_1696del (p.Val562fs) rs796052832
NM_001184880.2(PCDH19):c.1697C>A (p.Pro566Gln) rs1555985059
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) rs1367823627
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) rs1064797376
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) rs763798306
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) rs1569314377
NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs) rs796052833
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.2(PCDH19):c.1820T>C (p.Met607Thr) rs796052821
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) rs1569314304
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) rs1569314284
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=) rs796052791
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.1968T>A (p.Ala656=) rs776150934
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.2(PCDH19):c.199_207del (p.Ser67_Pro69del) rs796052840
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
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.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.2(PCDH19):c.2147+16C>T rs1057521156
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.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.2(PCDH19):c.21_39del (p.Val8fs) rs1555985864
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=) rs907375983
NM_001184880.2(PCDH19):c.222C>G (p.Ile74Met) rs1064797378
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr)
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2288+9G>T rs753792839
NM_001184880.2(PCDH19):c.2289-11C>G rs777190334
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) rs794726898
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=) rs1057524610
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg)
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn) rs765066118
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=) rs768467022
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln) rs886042264
NM_001184880.2(PCDH19):c.2384del (p.Glu795fs) rs796052844
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=) rs751223449
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=) rs766769854
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly)
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His)
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg)
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485
NM_001184880.2(PCDH19):c.2501dup (p.Asn834fs) rs1555984437
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) rs756818874
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser)
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn) rs796052824
NM_001184880.2(PCDH19):c.2588T>G (p.Leu863Arg) rs796052792
NM_001184880.2(PCDH19):c.2592T>A (p.Ile864=) rs1555984400
NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=) rs371444167
NM_001184880.2(PCDH19):c.25_27CTG[3] (p.Leu12del) rs770510483
NM_001184880.2(PCDH19):c.2607T>C (p.Pro869=) rs766605694
NM_001184880.2(PCDH19):c.2616+13A>T rs903221490
NM_001184880.2(PCDH19):c.2616+191G>T
NM_001184880.2(PCDH19):c.2616+19C>T rs1555984385
NM_001184880.2(PCDH19):c.2616+1G>A
NM_001184880.2(PCDH19):c.2617-1G>A
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln)
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) rs778668005
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
NM_001184880.2(PCDH19):c.2676-218C>T
NM_001184880.2(PCDH19):c.2676-6A>G
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) rs754570811
NM_001184880.2(PCDH19):c.271_273CTG[1] (p.Leu92del) rs727504068
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914
NM_001184880.2(PCDH19):c.2767C>A (p.Arg923=) rs752763816
NM_001184880.2(PCDH19):c.2781T>C (p.Cys927=) rs1555977733
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly) rs369379155
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2849-2A>G rs886039728
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
NM_001184880.2(PCDH19):c.2884C>T (p.Arg962Trp) rs779085409
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His) rs368872920
NM_001184880.2(PCDH19):c.295T>A (p.Cys99Ser) rs1064795237
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838
NM_001184880.2(PCDH19):c.298_300ATC[1] (p.Ile101del) rs796052825
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp) rs376406896
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091
NM_001184880.2(PCDH19):c.3077C>T (p.Pro1026Leu) rs762888017
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793
NM_001184880.2(PCDH19):c.309C>G (p.Leu103=) rs1057520954
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=) rs587781106
NM_001184880.2(PCDH19):c.311dup (p.Val105fs) rs1555985745
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406
NM_001184880.2(PCDH19):c.3235C>A (p.Pro1079Thr) rs200854927
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3248A>G (p.Tyr1083Cys) rs1315498661
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.328A>G (p.Met110Val) rs1057520139
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser)
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser)
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro)
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=) rs587781107
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) rs1057520343
NM_001184880.2(PCDH19):c.3353G>A (p.Ser1118Asn) rs760088234
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=) rs1555972516
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser) rs760947009
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr)
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn) rs796052795
NM_001184880.2(PCDH19):c.361G>C (p.Asp121His) rs796052795
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.370G>T (p.Asp124Tyr) rs796052797
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) rs1569315950
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
NM_001184880.2(PCDH19):c.387C>A (p.Phe129Leu) rs1238011122
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169
NM_001184880.2(PCDH19):c.406_408dup (p.Leu136dup) rs886043865
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.424G>C (p.Ala142Pro) rs796052798
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=) rs776584913
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>A (p.Asp155Asn) rs796052800
NM_001184880.2(PCDH19):c.470A>C (p.Asp157Ala) rs1569315869
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899
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.490dup (p.Gln164fs) rs1569315842
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
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.513C>T (p.Asn171=) rs749602848
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=) rs756958731
NM_001184880.2(PCDH19):c.524del (p.Gly175fs) rs796052826
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=) rs368094294
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.2(PCDH19):c.570_572dup (p.Val192dup) rs1555985576
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro)
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter) rs1131691603
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) rs796052804
NM_001184880.2(PCDH19):c.625A>C (p.Thr209Pro) rs796052805
NM_001184880.2(PCDH19):c.634G>C (p.Asp212His) rs796052806
NM_001184880.2(PCDH19):c.646_655del (p.Pro216fs) rs886039707
NM_001184880.2(PCDH19):c.648G>A (p.Pro216=) rs996601558
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
NM_001184880.2(PCDH19):c.684G>A (p.Val228=) rs201810406
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.696T>A (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.701A>G (p.Asn234Ser) rs1555985475
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.717C>G (p.Ser239Arg) rs199628956
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
NM_001184880.2(PCDH19):c.741G>T (p.Val247=) rs1057521743
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
NM_001184880.2(PCDH19):c.750C>G (p.Asn250Lys) rs796052809
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) rs1569315508
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
NM_001184880.2(PCDH19):c.785C>A (p.Ala262Asp) rs1555985448
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=)
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu)
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
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.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.825C>A (p.Tyr275Ter) rs1057520761
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.841del (p.Val281fs) rs1569315381
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) rs1064797377
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.878dup (p.His294fs) rs1131691362
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.2(PCDH19):c.896C>T (p.Thr299Ile) rs866113078
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398
NM_001184880.2(PCDH19):c.914A>G (p.Asp305Gly) rs1569315243
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys)
NM_001184880.2(PCDH19):c.91G>T (p.Glu31Ter) rs796052794
NM_001184880.2(PCDH19):c.927del (p.His310fs) rs1555985389
NM_001184880.2(PCDH19):c.92A>T (p.Glu31Val) rs1064795834
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606
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.994G>C (p.Val332Leu) rs1396289338
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
PCDH19, 5-BP DUP, NT1036

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.