ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
Download table as spreadsheet
HGVS dbSNP
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp) rs751247956
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081
NM_000069.3(CACNA1S):c.1101G>A (p.Met367Ile)
NM_000069.3(CACNA1S):c.1120G>A (p.Glu374Lys)
NM_000069.3(CACNA1S):c.1149A>G (p.Glu383=) rs544185379
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322
NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val) rs756504992
NM_000069.3(CACNA1S):c.1330C>T (p.Leu444Phe)
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile)
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn)
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1499A>G (p.Asp500Gly)
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu)
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)
NM_000069.3(CACNA1S):c.153-8G>A
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766
NM_000069.3(CACNA1S):c.1558A>C (p.Thr520Pro) rs1182197306
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp)
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp)
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys)
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) rs772213240
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546
NM_000069.3(CACNA1S):c.1768A>G (p.Thr590Ala)
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=) rs138541733
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) rs762032797
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser)
NM_000069.3(CACNA1S):c.1792_1794del (p.Asp598del) rs1572049360
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1813A>T (p.Ile605Phe)
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser) rs766576671
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys)
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783
NM_000069.3(CACNA1S):c.1A>G (p.Met1Val)
NM_000069.3(CACNA1S):c.2000C>T (p.Ala667Val)
NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val) rs1553254116
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
NM_000069.3(CACNA1S):c.2086_2088GAG[1] (p.Glu697del) rs1225367412
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.3(CACNA1S):c.209T>C (p.Val70Ala)
NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) rs1473781692
NM_000069.3(CACNA1S):c.2105C>T (p.Ala702Val)
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=)
NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe) rs756870237
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu) rs779684649
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518
NM_000069.3(CACNA1S):c.2395A>T (p.Thr799Ser) rs1572042622
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)
NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) rs1558067487
NM_000069.3(CACNA1S):c.2490+5C>T rs369813191
NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) rs1558067263
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782
NM_000069.3(CACNA1S):c.2542G>A (p.Val848Ile)
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492
NM_000069.3(CACNA1S):c.2674G>A (p.Val892Met)
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.3(CACNA1S):c.2698A>G (p.Arg900Gly)
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe)
NM_000069.3(CACNA1S):c.2753T>C (p.Val918Ala) rs1558065055
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899
NM_000069.3(CACNA1S):c.2767G>C (p.Val923Leu) rs571902899
NM_000069.3(CACNA1S):c.2770G>A (p.Ala924Thr)
NM_000069.3(CACNA1S):c.2770G>T (p.Ala924Ser)
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met)
NM_000069.3(CACNA1S):c.2888T>C (p.Met963Thr)
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2921T>A (p.Val974Glu) rs974247677
NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg)
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr)
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser)
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046
NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) rs143836984
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290
NM_000069.3(CACNA1S):c.3113G>T (p.Arg1038Leu)
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)
NM_000069.3(CACNA1S):c.3185G>A (p.Gly1062Asp) rs1553249998
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly)
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser) rs764602257
NM_000069.3(CACNA1S):c.3272A>G (p.Tyr1091Cys)
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys) rs781178565
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu)
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)
NM_000069.3(CACNA1S):c.3337T>C (p.Tyr1113His) rs1553249924
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu)
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356
NM_000069.3(CACNA1S):c.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe) rs774511818
NM_000069.3(CACNA1S):c.3569T>A (p.Val1190Asp) rs1405148658
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His)
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=)
NM_000069.3(CACNA1S):c.3674A>G (p.Asp1225Gly)
NM_000069.3(CACNA1S):c.3677A>G (p.Glu1226Gly)
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys)
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3763A>G (p.Thr1255Ala)
NM_000069.3(CACNA1S):c.3774G>C (p.Trp1258Cys)
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser) rs921262693
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln)
NM_000069.3(CACNA1S):c.3906G>T (p.Arg1302=) rs375189627
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624
NM_000069.3(CACNA1S):c.3992C>T (p.Ala1331Val)
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269
NM_000069.3(CACNA1S):c.4114-5T>A rs1421023094
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4308G>T (p.Gly1436=)
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103
NM_000069.3(CACNA1S):c.4348G>A (p.Gly1450Ser)
NM_000069.3(CACNA1S):c.4385C>A (p.Thr1462Asn) rs1175915781
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val) rs369332959
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu)
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr) rs760097708
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn)
NM_000069.3(CACNA1S):c.4660C>A (p.Gln1554Lys)
NM_000069.3(CACNA1S):c.4668+6C>T
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys) rs368421264
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)
NM_000069.3(CACNA1S):c.470C>G (p.Ala157Gly)
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583
NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr) rs781500916
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080
NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) rs763695518
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451
NM_000069.3(CACNA1S):c.4957A>G (p.Thr1653Ala)
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys) rs147392278
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) rs141618437
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln) rs777920946
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly)
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.5135-3C>T
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg)
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala)
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn) rs777977731
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg)
NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys) rs1558048332
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131
NM_000069.3(CACNA1S):c.541+3G>A
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn)
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) rs368214163
NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn)
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780
NM_000069.3(CACNA1S):c.5557T>C (p.Ser1853Pro)
NM_000069.3(CACNA1S):c.5593del (p.Gln1865fs)
NM_000069.3(CACNA1S):c.5606T>C (p.Ile1869Thr)
NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu) rs1553247246
NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly)
NM_000069.3(CACNA1S):c.565A>G (p.Ile189Val)
NM_000069.3(CACNA1S):c.586C>A (p.Leu196Ile)
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.3(CACNA1S):c.610C>G (p.Leu204Val) rs753823016
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919
NM_000069.3(CACNA1S):c.632C>T (p.Ala211Val)
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)
NM_000069.3(CACNA1S):c.685A>G (p.Ile229Val)
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr)
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met)
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His) rs766838790
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp)
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly)
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln) rs758594181
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe) rs980556708
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121
NM_000069.3(CACNA1S):c.916G>T (p.Gly306Trp)
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309

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.