ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs) rs1436725375 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs) rs763882874 0.00002
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4240C>T (p.Arg1414Ter) rs1421575182 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_033056.4(PCDH15):c.4403_4418dup (p.Ser1473_Glu1474insLysTer) rs1326692199 0.00001
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer) rs746017823 0.00001
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter) rs1442366836 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
GRCh37/hg19 10q21.1(chr10:54976143-55915352)x1
GRCh37/hg19 10q21.1(chr10:55468897-55645953)x1
GRCh37/hg19 10q21.1(chr10:55938132-56040206)x1
GRCh37/hg19 10q21.1(chr10:55942657-56054330)x1
NC_000010.10:g.(?_55566339)_(56288162_?)del
NC_000010.10:g.(?_55581608)_(55626627_?)del
NC_000010.10:g.(?_55581618)_(55663150_?)del
NC_000010.10:g.(?_55581618)_(56424022_?)del
NC_000010.10:g.(?_55616915)_(55626637_?)del
NC_000010.10:g.(?_55616925)_(55782967_?)del
NC_000010.10:g.(?_55616925)_(55996701_?)del
NC_000010.10:g.(?_55698565)_(55700745_?)del
NC_000010.10:g.(?_55755399)_(56138712_?)del
NC_000010.10:g.(?_55755399)_(56424032_?)del
NC_000010.10:g.(?_55826507)_(56106254_?)del
NC_000010.10:g.(?_55826507)_(56424032_?)del
NC_000010.10:g.(?_55849724)_(55849843_?)del
NC_000010.10:g.(?_55849734)_(55849833_?)del
NC_000010.10:g.(?_55849744)_(55955649_?)del
NC_000010.10:g.(?_55892625)_(55892777_?)del
NC_000010.10:g.(?_55912840)_(55913073_?)dup
NC_000010.10:g.(?_55912850)_(56138712_?)del
NC_000010.10:g.(?_55973686)_(55973818_?)del
NC_000010.10:g.(?_55996563)_(56089486_?)del
NC_000010.10:g.(?_56077031)_(56106244_?)del
NC_000010.10:g.(?_56106115)_(56106254_?)del
NC_000010.10:g.(?_56287562)_(56288172_?)del
NC_000010.11:g.(?_53806569)_(54528412_?)del
NC_000010.11:g.(?_53806569)_(54664272_?)del
NC_000010.11:g.(?_53806579)_(54664262_?)del
NC_000010.11:g.(?_53903233)_(53903380_?)del
NC_000010.11:g.(?_53903233)_(54664272_?)del
NC_000010.11:g.(?_53938805)_(54664272_?)del
NC_000010.11:g.(?_54183434)_(54189394_?)del
NC_000010.11:g.(?_54346355)_(54378952_?)dup
NC_000010.11:g.(?_54369120)_(54378942_?)del
NC_000010.11:g.(?_54527802)_(54664272_?)del
NM_001384140.1(PCDH15):c.1001dup (p.Tyr334Ter)
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter) rs2051720336
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.10C>T (p.Gln4Ter)
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.1175del (p.Ser392fs) rs2133924837
NM_001384140.1(PCDH15):c.1194del (p.Ser399fs)
NM_001384140.1(PCDH15):c.1201C>T (p.Gln401Ter)
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1313del (p.Asp438fs) rs2133818635
NM_001384140.1(PCDH15):c.1343_1350del (p.Tyr448fs) rs2048383082
NM_001384140.1(PCDH15):c.1357_1358del (p.Thr453fs) rs2133818115
NM_001384140.1(PCDH15):c.1387_1396del (p.Leu463fs)
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.1475dup (p.Val493fs) rs1591019480
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.1561_1580delinsTAAAAGTGTTCCTGTTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGTCATGGCCATCAGAGAAATGCAAATCAAAACATA (p.Asp521_Ser527delinsTer)
NM_001384140.1(PCDH15):c.1576del (p.Asp526fs)
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs)
NM_001384140.1(PCDH15):c.1639G>T (p.Glu547Ter)
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1709_1719del (p.Gly570fs) rs2044717037
NM_001384140.1(PCDH15):c.1717del (p.Glu572_Met573insTer)
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1744dup (p.Thr582fs)
NM_001384140.1(PCDH15):c.1789del (p.Ser597fs)
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1831C>T (p.Gln611Ter) rs1350235037
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.1957_1960del (p.Glu653fs)
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs) rs765906921
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2031del (p.Asp677fs)
NM_001384140.1(PCDH15):c.2088_2089insA (p.Gly697fs) rs2135947078
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2156del (p.Pro719fs) rs2135810742
NM_001384140.1(PCDH15):c.2160T>A (p.Tyr720Ter)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2212C>T (p.Gln738Ter) rs2135810142
NM_001384140.1(PCDH15):c.2267del (p.Leu756fs) rs2135323462
NM_001384140.1(PCDH15):c.2321del (p.Ala774fs) rs2135322427
NM_001384140.1(PCDH15):c.2477dup (p.Leu827fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2552del (p.Asn851fs)
NM_001384140.1(PCDH15):c.2572del (p.Ser858fs) rs2092878502
NM_001384140.1(PCDH15):c.2595dup (p.Ala866fs)
NM_001384140.1(PCDH15):c.2617G>T (p.Glu873Ter)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter) rs2092876200
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_001384140.1(PCDH15):c.2651del (p.Ala884fs) rs2135283149
NM_001384140.1(PCDH15):c.2687dup (p.Glu897fs)
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2868+2T>C rs2091798175
NM_001384140.1(PCDH15):c.2895T>A (p.Tyr965Ter)
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.2924del (p.Pro975fs)
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3120T>G (p.Tyr1040Ter)
NM_001384140.1(PCDH15):c.3167del (p.Gly1056fs)
NM_001384140.1(PCDH15):c.3207C>A (p.Tyr1069Ter)
NM_001384140.1(PCDH15):c.3221_3222del (p.Gly1074fs)
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3251del (p.Asn1084fs)
NM_001384140.1(PCDH15):c.3256del (p.Thr1086fs)
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
NM_001384140.1(PCDH15):c.3425dup (p.Val1143fs) rs2082449528
NM_001384140.1(PCDH15):c.3441del (p.Lys1147fs) rs770832663
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3544del (p.Arg1182fs)
NM_001384140.1(PCDH15):c.355C>T (p.Gln119Ter) rs1947274911
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3590_3591dup (p.Glu1198fs)
NM_001384140.1(PCDH15):c.3600T>G (p.Tyr1200Ter) rs768989856
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3660_3666del (p.Phe1220fs)
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter) rs1589156388
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter) rs2079479378
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3721del (p.Ser1241fs)
NM_001384140.1(PCDH15):c.3745del (p.Gln1249fs)
NM_001384140.1(PCDH15):c.3753dup (p.Val1252fs)
NM_001384140.1(PCDH15):c.3757del (p.Ser1253fs) rs2078810640
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs)
NM_001384140.1(PCDH15):c.3788dup (p.Ile1264fs)
NM_001384140.1(PCDH15):c.3789del (p.Lys1263_Ile1264insTer) rs2133038541
NM_001384140.1(PCDH15):c.3791_3792del (p.Ile1264fs) rs2078806601
NM_001384140.1(PCDH15):c.3918T>A (p.Cys1306Ter)
NM_001384140.1(PCDH15):c.391del (p.His131fs)
NM_001384140.1(PCDH15):c.3946del (p.Gln1316fs) rs1589036783
NM_001384140.1(PCDH15):c.3963_3964insA (p.Asp1322fs) rs2077566001
NM_001384140.1(PCDH15):c.3964del (p.Asp1322fs)
NM_001384140.1(PCDH15):c.3973G>T (p.Glu1325Ter)
NM_001384140.1(PCDH15):c.3981_3982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAAATGAGCTTTTT (p.Lys1328delinsPhePhePhePhePhePheXaaXaaXaaXaaArgTyrIleSerGlnCysTyrProSerProLeuProArgProHisHisSerProGlnLysTer)
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.4024C>T (p.Gln1342Ter) rs61731387
NM_001384140.1(PCDH15):c.4035T>A (p.Tyr1345Ter) rs1057520678
NM_001384140.1(PCDH15):c.4128dup (p.Leu1378fs) rs2077005374
NM_001384140.1(PCDH15):c.4197C>G (p.Tyr1399Ter) rs2132634562
NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4238del (p.Ala1413fs)
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165
NM_001384140.1(PCDH15):c.4274del (p.Ala1425fs) rs2132579465
NM_001384140.1(PCDH15):c.4289_4319del (p.Ala1430fs)
NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs) rs2132576827
NM_001384140.1(PCDH15):c.472G>T (p.Glu158Ter)
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs) rs2134175729
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer) rs2135421905
NM_001384140.1(PCDH15):c.617_618del (p.Ile206fs) rs2133883986
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.804T>A (p.Cys268Ter)
NM_001384140.1(PCDH15):c.84dup (p.Asp29Ter) rs2135421507
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_001384140.1(PCDH15):c.960_967del (p.Gly321fs) rs1264391272
NM_001384140.1(PCDH15):c.973dup (p.Ser325fs)
NM_001384140.1(PCDH15):c.975del (p.Ile326fs)
NM_001384140.1(PCDH15):c.985_985+3del
NM_001384140.1(PCDH15):c.996_999del (p.Glu332fs) rs2134108223
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4369_4372dup (p.Phe1458fs) rs754624281
NM_033056.4(PCDH15):c.4372_4390dup (p.Gln1464fs)
NM_033056.4(PCDH15):c.4382_4385dup (p.His1462fs)
NM_033056.4(PCDH15):c.4383C>G (p.Tyr1461Ter)
NM_033056.4(PCDH15):c.4398_4414del (p.Arg1467fs)
NM_033056.4(PCDH15):c.4406_4409dup (p.Asn1470delinsLysTer) rs2076434973
NM_033056.4(PCDH15):c.4408_4468dup (p.Ile1490fs)
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs) rs749884609
NM_033056.4(PCDH15):c.4410_4413dup (p.Val1472fs)
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs) rs2132512042
NM_033056.4(PCDH15):c.4415del (p.Val1472fs)
NM_033056.4(PCDH15):c.4437_4452dup (p.Phe1485fs)
NM_033056.4(PCDH15):c.4462_4468dup (p.Ile1490fs)
NM_033056.4(PCDH15):c.4482_4506dup (p.Lys1503delinsValSerSerCysArgArgIleThrTer)
NM_033056.4(PCDH15):c.4489_4508dup (p.Lys1503delinsAsnMetTer)
NM_033056.4(PCDH15):c.4513_4571del (p.Asn1505fs)
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs) rs1554820966
NM_033056.4(PCDH15):c.4536dup (p.Phe1513fs)
NM_033056.4(PCDH15):c.4546_4565dup (p.Leu1522fs)
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.4559del (p.Asp1520fs)
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs) rs2132508767
NM_033056.4(PCDH15):c.4591G>T (p.Glu1531Ter) rs867154687
NM_033056.4(PCDH15):c.4596_4599dup (p.Ser1534fs)
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer) rs2132508266
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4616_4647dup (p.Asp1550delinsIleGlnThrPheHisArgGluGlnIleLeuTer) rs779857486
NM_033056.4(PCDH15):c.4630_4631del (p.Gln1544fs)
NM_033056.4(PCDH15):c.4644dup (p.Val1549fs) rs1564538809
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4685_4688dup (p.Arg1564fs) rs1346160987
NM_033056.4(PCDH15):c.4700_4728dup (p.Ser1577fs)
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4721G>A (p.Trp1574Ter)
NM_033056.4(PCDH15):c.4729_4736del (p.Ser1577fs)
NM_033056.4(PCDH15):c.5659A>T (p.Lys1887Ter) rs2076305143

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