ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP
NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NC_000019.10:g.(?_13275830)_(13277148_?)del
NC_000019.10:g.(?_13298534)_(13300666_?)del
NC_000019.10:g.(?_13300530)_(13300676_?)del
NC_000019.10:g.(?_13359586)_(13359819_?)del
NC_000019.9:g.13414350_13418678del
NM_000068.4(CACNA1A):c.1363C>T (p.Arg455Ter) rs886039668
NM_000068.4(CACNA1A):c.1637dup (p.Tyr546Ter) rs1568523843
NM_000068.4(CACNA1A):c.1784del (p.Lys595fs) rs1600293149
NM_000068.4(CACNA1A):c.1925del (p.Phe642fs) rs1568518139
NM_000068.4(CACNA1A):c.2009G>A (p.Trp670Ter) rs1555757537
NM_000068.4(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_000068.4(CACNA1A):c.2134A>G (p.Ile712Val) rs1568514116
NM_000068.4(CACNA1A):c.2145C>A (p.Asp715Glu) rs121908218
NM_000068.4(CACNA1A):c.2322_2349dup (p.Glu784delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
NM_000068.4(CACNA1A):c.2746C>T (p.Gln916Ter) rs1555756161
NM_000068.4(CACNA1A):c.2816_2826dup (p.Ser943fs) rs1600272344
NM_000068.4(CACNA1A):c.2825dup (p.Ser943fs) rs587776694
NM_000068.4(CACNA1A):c.2856_2865del (p.Ala955fs) rs1555755977
NM_000068.4(CACNA1A):c.2877del (p.Arg960fs) rs786200962
NM_000068.4(CACNA1A):c.2915del (p.Gly972fs) rs1555755926
NM_000068.4(CACNA1A):c.2970_2971dup (p.Arg991fs) rs1555755878
NM_000068.4(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_000068.4(CACNA1A):c.3115dup (p.Ser1039fs) rs1131691712
NM_000068.4(CACNA1A):c.3227del (p.Lys1076fs) rs1555753042
NM_000068.4(CACNA1A):c.3544del (p.Leu1182fs) rs757953057
NM_000068.4(CACNA1A):c.3544dup (p.Leu1182fs) rs757953057
NM_000068.4(CACNA1A):c.3545del (p.Leu1182fs) rs1568494824
NM_000068.4(CACNA1A):c.3590del (p.Pro1197fs) rs1600242882
NM_000068.4(CACNA1A):c.3706dup (p.Leu1236fs) rs1568493323
NM_000068.4(CACNA1A):c.3806del (p.Pro1269fs) rs587776692
NM_000068.4(CACNA1A):c.3855C>G (p.Tyr1285Ter) rs774224202
NM_000068.4(CACNA1A):c.3937dup (p.Arg1313fs) rs1568485109
NM_000068.4(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_000068.4(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_000068.4(CACNA1A):c.4506_4508CTT[2] (p.Phe1505del) rs886041279
NM_000068.4(CACNA1A):c.4513_4515del (p.Phe1505del) rs1131691374
NM_000068.4(CACNA1A):c.4531G>T (p.Ala1511Ser) rs886037946
NM_000068.4(CACNA1A):c.4854del (p.Val1620fs) rs587776695
NM_000068.4(CACNA1A):c.4968+1G>T rs1600152215
NM_000068.4(CACNA1A):c.5470C>T (p.Arg1824Ter) rs267606696
NM_000068.4(CACNA1A):c.5655del (p.Met1886fs) rs1600114562
NM_000068.4(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_000068.4(CACNA1A):c.6046C>T (p.Gln2016Ter) rs1355062450
NM_000068.4(CACNA1A):c.6173dup (p.Thr2059fs) rs1158454977
NM_000068.4(CACNA1A):c.6386del (p.Arg2129fs) rs1555730902
NM_000068.4(CACNA1A):c.6507dup (p.Glu2170Ter) rs1555730801
NM_000068.4(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127221.1(CACNA1A):c.1082+1G>A rs1272886269
NM_001127221.1(CACNA1A):c.3695+1G>T rs1315533129
NM_001127221.1(CACNA1A):c.3825+1G>A rs794727355
NM_001127221.1(CACNA1A):c.3992+1G>A rs587776693
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) rs1600353301
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) rs1568528298
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) rs767432719
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) rs1568528144
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs) rs1555762869
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) rs1555759066
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter)
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter) rs1555758842
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) rs940460024
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) rs886041654
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) rs1555756737
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) rs1555756461
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs)
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) rs1600274038
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) rs1420078244
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) rs1555756130
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs) rs1555756091
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter) rs1318353774
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.3089+1G>A
NM_001127222.2(CACNA1A):c.3154C>T (p.Gln1052Ter) rs1568495944
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter)
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs)
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4067T>G (p.Ile1356Ser) rs886041541
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4096T>A (p.Phe1366Ile) rs1057520749
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg) rs886041909
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) rs121908219
NM_001127222.2(CACNA1A):c.4174G>C (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) rs121908227
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) rs1568470104
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4389-1G>C
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) rs1555743942
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs) rs1600180395
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4950+1G>T rs1568457080
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) rs1600139005
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) rs121908226
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5342del (p.Cys1781fs) rs1600130724
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5529-1231C>T
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.5529-1268C>A
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter)
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) rs1599276830
NM_023035.3(CACNA1A):c.3704+1G>A rs1315533129
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411

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.