ClinVar Miner

List of variants in gene PCDH15 reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 78
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HGVS dbSNP
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.4(PCDH15):c.1305+1G>A rs758947077
NM_033056.4(PCDH15):c.1305+1G>C rs758947077
NM_033056.4(PCDH15):c.1305+1del rs1554833699
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_033056.4(PCDH15):c.1635_1636AT[1] (p.Thr545_Tyr546insTer) rs1554816541
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_033056.4(PCDH15):c.1785-2A>C rs1057516474
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.4(PCDH15):c.1917+2T>C rs1554806149
NM_033056.4(PCDH15):c.1997+1G>T rs763797356
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_033056.4(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_033056.4(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_033056.4(PCDH15):c.3122+2T>A rs1554882546
NM_033056.4(PCDH15):c.3123-1G>A rs1554873550
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_033056.4(PCDH15):c.3233-2A>G rs1554872194
NM_033056.4(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_033056.4(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_033056.4(PCDH15):c.3374-1G>T rs1554852472
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3501+1G>T rs1402893508
NM_033056.4(PCDH15):c.3502-2A>G rs1554836566
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_033056.4(PCDH15):c.3717+1G>A rs748706627
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_033056.4(PCDH15):c.3806+1G>C rs1554833227
NM_033056.4(PCDH15):c.3806+2T>C rs756692340
NM_033056.4(PCDH15):c.3807-2A>G rs1328440878
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_033056.4(PCDH15):c.4211+1G>A rs1554823229
NM_033056.4(PCDH15):c.4211+1del rs1554823231
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4211+2dup rs1057517419
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.594+1G>T rs1057516470
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.4(PCDH15):c.705+1G>A rs1554903842
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048

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