NM_021098.3(CACNA1H):c.4062C>T (p.Ser1354=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000550994] |
Chr16:1210810 [GRCh38] Chr16:1260810 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003765566]|not provided [RCV000254968] |
Chr16:1205199 [GRCh38] Chr16:1255199 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476118]|Idiopathic generalized epilepsy [RCV000529736] |
Chr16:1204160 [GRCh38] Chr16:1254160 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4881C>T (p.Ile1627=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000526483] |
Chr16:1213883 [GRCh38] Chr16:1263883 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497089]|Idiopathic generalized epilepsy [RCV000552862] |
Chr16:1207788 [GRCh38] Chr16:1257788 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.300-341C>T |
single nucleotide variant |
not provided [RCV001665036] |
Chr16:1194631 [GRCh38] Chr16:1244631 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000527010]|Inborn genetic diseases [RCV002528321] |
Chr16:1209317 [GRCh38] Chr16:1259317 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476122]|Idiopathic generalized epilepsy [RCV000549486] |
Chr16:1218326 [GRCh38] Chr16:1268326 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506310]|Idiopathic generalized epilepsy [RCV000530601] |
Chr16:1201929 [GRCh38] Chr16:1251929 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490977]|Idiopathic generalized epilepsy [RCV001086863]|not provided [RCV000553094] |
Chr16:1201809 [GRCh38] Chr16:1251809 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000551497] |
Chr16:1198761 [GRCh38] Chr16:1248761 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3163A>G (p.Met1055Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001478578] |
Chr16:1208021 [GRCh38] Chr16:1258021 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000528243] |
Chr16:1220290 [GRCh38] Chr16:1270290 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5174-5C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497095]|Idiopathic generalized epilepsy [RCV000546557] |
Chr16:1215518 [GRCh38] Chr16:1265518 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-8G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000542363] |
Chr16:1194964 [GRCh38] Chr16:1244964 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490988]|Idiopathic generalized epilepsy [RCV001085216]|not provided [RCV000711125] |
Chr16:1220205 [GRCh38] Chr16:1270205 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506313]|Idiopathic generalized epilepsy [RCV000550688] |
Chr16:1209290 [GRCh38] Chr16:1259290 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.801C>T (p.Val267=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497099]|Idiopathic generalized epilepsy [RCV000525393] |
Chr16:1198772 [GRCh38] Chr16:1248772 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1041C>T (p.Cys347=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000525401] |
Chr16:1200493 [GRCh38] Chr16:1250493 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001080496]|not provided [RCV000711078] |
Chr16:1205206 [GRCh38] Chr16:1255206 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000545608]|not provided [RCV001637068] |
Chr16:1195062 [GRCh38] Chr16:1245062 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000532613]|Inborn genetic diseases [RCV003343899] |
Chr16:1215062 [GRCh38] Chr16:1265062 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.817A>T (p.Thr273Ser) |
single nucleotide variant |
CACNA1H-related condition [RCV003942765]|Idiopathic generalized epilepsy [RCV000555124] |
Chr16:1200269 [GRCh38] Chr16:1250269 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001507200]|not provided [RCV000711127] |
Chr16:1220256 [GRCh38] Chr16:1270256 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499832]|Idiopathic generalized epilepsy [RCV001394520] |
Chr16:1220553 [GRCh38] Chr16:1270553 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000002820] |
Chr16:1195503 [GRCh38] Chr16:1245503 [GRCh37] Chr16:16p13.3 |
risk factor |
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000002821]|Idiopathic generalized epilepsy [RCV001213381] |
Chr16:1200296 [GRCh38] Chr16:1250296 [GRCh37] Chr16:16p13.3 |
risk factor|uncertain significance |
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000002822]|Idiopathic generalized epilepsy [RCV001321101] |
Chr16:1205153 [GRCh38] Chr16:1255153 [GRCh37] Chr16:16p13.3 |
risk factor|uncertain significance |
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 6 [RCV000002824]|Idiopathic generalized epilepsy [RCV001086324]|not provided [RCV000711068] |
Chr16:1202303 [GRCh38] Chr16:1252303 [GRCh37] Chr16:16p13.3 |
risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) |
single nucleotide variant |
CACNA1H-related condition [RCV003934794]|Epilepsy, childhood absence, susceptibility to, 6 [RCV001334115]|Epilepsy, idiopathic generalized, susceptibility to, 6 [RCV000002825]|Idiopathic generalized epilepsy [RCV000545251]|not provided [RCV001659680] |
Chr16:1206126 [GRCh38] Chr16:1256126 [GRCh37] Chr16:16p13.3 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764022]|Idiopathic generalized epilepsy [RCV000542428]|Inborn genetic diseases [RCV002527713] |
Chr16:1220557 [GRCh38] Chr16:1270557 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) |
single nucleotide variant |
CACNA1H-related condition [RCV003942764]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002497094]|Idiopathic generalized epilepsy [RCV001085322]|not provided [RCV000711105] |
Chr16:1213838 [GRCh38] Chr16:1263838 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2303C>T (p.Ala768Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001888939] |
Chr16:1204310 [GRCh38] Chr16:1254310 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) |
single nucleotide variant |
CACNA1H-related condition [RCV003925614]|Idiopathic generalized epilepsy [RCV001083720]|not provided [RCV000711135] |
Chr16:1153830 [GRCh38] Chr16:1203830 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3364-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001087939]|not provided [RCV000711088] |
Chr16:1209029 [GRCh38] Chr16:1259029 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000545052] |
Chr16:1195483 [GRCh38] Chr16:1245483 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001081358]|not provided [RCV000546075]|not specified [RCV003321648] |
Chr16:1220649 [GRCh38] Chr16:1270649 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.7026C>T (p.Thr2342=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000547905] |
Chr16:1220958 [GRCh38] Chr16:1270958 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000525567]|not provided [RCV001584255] |
Chr16:1213936 [GRCh38] Chr16:1263936 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4035G>A (p.Val1345=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000548367] |
Chr16:1210648 [GRCh38] Chr16:1260648 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-8C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003915507]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002506309]|Idiopathic generalized epilepsy [RCV000528171]|not provided [RCV000711053]|not specified [RCV001703192] |
Chr16:1200708 [GRCh38] Chr16:1250708 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6417_6418inv (p.Ala2140Thr) |
inversion |
Idiopathic generalized epilepsy [RCV000548915] |
Chr16:1220349..1220350 [GRCh38] Chr16:1270349..1270350 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4269G>C (p.Leu1423=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000528499]|Inborn genetic diseases [RCV002330847] |
Chr16:1211213 [GRCh38] Chr16:1261213 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2907+10G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001466206]|not specified [RCV000517733] |
Chr16:1207128 [GRCh38] Chr16:1257128 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000552164] |
Chr16:1201903 [GRCh38] Chr16:1251903 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.366C>G (p.Pro122=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000552248] |
Chr16:1195038 [GRCh38] Chr16:1245038 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5382C>T (p.Phe1794=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000546749] |
Chr16:1217977 [GRCh38] Chr16:1267977 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000546902]|Inborn genetic diseases [RCV003243178] |
Chr16:1201952 [GRCh38] Chr16:1251952 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4427C>T (p.Ala1476Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001348206] |
Chr16:1211557 [GRCh38] Chr16:1261557 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001086007]|not provided [RCV000711102] |
Chr16:1212014 [GRCh38] Chr16:1262014 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001083146]|not provided [RCV000711075] |
Chr16:1204361 [GRCh38] Chr16:1254361 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6049-10G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506317]|Idiopathic generalized epilepsy [RCV000543746] |
Chr16:1219971 [GRCh38] Chr16:1269971 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6480G>A (p.Leu2160=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000527301] |
Chr16:1220412 [GRCh38] Chr16:1270412 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483390]|Idiopathic generalized epilepsy [RCV000544092] |
Chr16:1220681 [GRCh38] Chr16:1270681 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000877891]|Inborn genetic diseases [RCV002527460]|not provided [RCV001755762]|not specified [RCV000518689] |
Chr16:1211550 [GRCh38] Chr16:1261550 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497087]|Idiopathic generalized epilepsy [RCV000525903] |
Chr16:1202340 [GRCh38] Chr16:1252340 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001080189]|not provided [RCV000711115] |
Chr16:1218439 [GRCh38] Chr16:1268439 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.226G>A (p.Ala76Thr) |
single nucleotide variant |
not provided [RCV000523683] |
Chr16:1153963 [GRCh38] Chr16:1203963 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000529788]|not provided [RCV001712478]|not specified [RCV000517901] |
Chr16:1219003 [GRCh38] Chr16:1269003 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000529183] |
Chr16:1220680 [GRCh38] Chr16:1270680 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635008]|not specified [RCV000517788] |
Chr16:1210868 [GRCh38] Chr16:1260868 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000536491]|not specified [RCV000518591] |
Chr16:1209107 [GRCh38] Chr16:1259107 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4555G>A (p.Val1519Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000547091] |
Chr16:1211794 [GRCh38] Chr16:1261794 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497098]|Idiopathic generalized epilepsy [RCV000547680]|not provided [RCV001544847] |
Chr16:1220871 [GRCh38] Chr16:1270871 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4860C>T (p.Asp1620=) |
single nucleotide variant |
CACNA1H-related condition [RCV003925613]|Idiopathic generalized epilepsy [RCV000548133] |
Chr16:1213862 [GRCh38] Chr16:1263862 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 |
copy number gain |
See cases [RCV000052367] |
Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 |
copy number gain |
See cases [RCV000052368] |
Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 |
copy number gain |
See cases [RCV000052369] |
Chr16:46566..1800860 [GRCh38] Chr16:96566..1850861 [GRCh37] Chr16:36566..1790862 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 |
copy number gain |
See cases [RCV000052370] |
Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 |
copy number gain |
See cases [RCV000052373] |
Chr16:1221651..2233773 [GRCh38] Chr16:1271651..2283774 [GRCh37] Chr16:1211652..2223775 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 |
copy number loss |
See cases [RCV000053251] |
Chr16:23141..1773349 [GRCh38] Chr16:73141..1823350 [GRCh37] Chr16:13141..1763351 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 |
copy number loss |
See cases [RCV000053252] |
Chr16:23141..1712523 [GRCh38] Chr16:73141..1762524 [GRCh37] Chr16:13141..1702525 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 |
copy number loss |
See cases [RCV000053253] |
Chr16:46766..1997582 [GRCh38] Chr16:96766..2047583 [GRCh37] Chr16:36766..1987584 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 |
copy number loss |
See cases [RCV000053267] |
Chr16:105429..1499893 [GRCh38] Chr16:155427..1549894 [GRCh37] Chr16:95427..1489895 [NCBI36] Chr16:16p13.3 |
pathogenic |
NM_021098.2(CACNA1H):c.6960G>A (p.Lys2320=) |
single nucleotide variant |
Malignant melanoma [RCV000070986] |
Chr16:1220892 [GRCh38] Chr16:1270892 [GRCh37] Chr16:1210893 [NCBI36] Chr16:16p13.3 |
not provided |
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477471]|Idiopathic generalized epilepsy [RCV001855360]|not provided [RCV000657849] |
Chr16:1220653 [GRCh38] Chr16:1270653 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3304G>A (p.Asp1102Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000660379] |
Chr16:1208162 [GRCh38] Chr16:1258162 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000660401]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002485505]|Idiopathic generalized epilepsy [RCV001205379]|Inborn genetic diseases [RCV002530569] |
Chr16:1209093 [GRCh38] Chr16:1259093 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001511884]|not provided [RCV001719846]|not specified [RCV000082060] |
Chr16:1201803 [GRCh38] Chr16:1251803 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490721]|Idiopathic generalized epilepsy [RCV001083237]|not provided [RCV000711060]|not specified [RCV000082061] |
Chr16:1202114 [GRCh38] Chr16:1252114 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001511885]|not provided [RCV000711061]|not specified [RCV000082062] |
Chr16:1202118 [GRCh38] Chr16:1252118 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001511379]|not specified [RCV000082063] |
Chr16:1202259 [GRCh38] Chr16:1252259 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) |
single nucleotide variant |
CACNA1H-related condition [RCV003952524]|Idiopathic generalized epilepsy [RCV001083076]|not provided [RCV000082064] |
Chr16:1202294 [GRCh38] Chr16:1252294 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000611967]|Idiopathic generalized epilepsy [RCV001515458]|not provided [RCV001707525]|not specified [RCV000082065] |
Chr16:1202369 [GRCh38] Chr16:1252369 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515299]|not provided [RCV001711253]|not specified [RCV000082066] |
Chr16:1202441 [GRCh38] Chr16:1252441 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000554921]|not provided [RCV003390779]|not specified [RCV000082067] |
Chr16:1204272 [GRCh38] Chr16:1254272 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515459]|not provided [RCV000711076]|not specified [RCV000082068] |
Chr16:1204369 [GRCh38] Chr16:1254369 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2603+12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002055218]|not specified [RCV000082069] |
Chr16:1205277 [GRCh38] Chr16:1255277 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) |
single nucleotide variant |
CACNA1H-related condition [RCV003935066]|Idiopathic generalized epilepsy [RCV001084752]|not provided [RCV000082070] |
Chr16:1209223 [GRCh38] Chr16:1259223 [GRCh37] Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000601735]|Idiopathic generalized epilepsy [RCV001515300]|not provided [RCV000711092]|not specified [RCV000082071] |
Chr16:1210481 [GRCh38] Chr16:1260481 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001088207]|not provided [RCV000082072] |
Chr16:1211727 [GRCh38] Chr16:1261727 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498432]|Idiopathic generalized epilepsy [RCV000547754]|not provided [RCV000434616]|not specified [RCV000082073] |
Chr16:1213819 [GRCh38] Chr16:1263819 [GRCh37] Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001518494]|not provided [RCV001650929]|not specified [RCV000082074] |
Chr16:1220055 [GRCh38] Chr16:1270055 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515461]|not provided [RCV000711122]|not specified [RCV000082075] |
Chr16:1220111 [GRCh38] Chr16:1270111 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000600827]|Idiopathic generalized epilepsy [RCV001515307]|not provided [RCV000711124]|not specified [RCV000082076] |
Chr16:1220162 [GRCh38] Chr16:1270162 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000537043]|not provided [RCV001577544]|not specified [RCV000082077] |
Chr16:1220166 [GRCh38] Chr16:1270166 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000607902]|Idiopathic generalized epilepsy [RCV001515308]|not provided [RCV000711128]|not specified [RCV000082078] |
Chr16:1220349 [GRCh38] Chr16:1270349 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002055219]|not provided [RCV000082079] |
Chr16:1220610 [GRCh38] Chr16:1270610 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3744+1G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000555691]|not provided [RCV000255511] |
Chr16:1209413 [GRCh38] Chr16:1259413 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5098G>T (p.Glu1700Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001246443] |
Chr16:1215300 [GRCh38] Chr16:1265300 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.10:g.(?_1194952)_(1221014_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001032840] |
Chr16:1244952..1271014 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6286C>A (p.Pro2096Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001348613] |
Chr16:1220218 [GRCh38] Chr16:1270218 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6375G>C (p.Val2125=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002165772] |
Chr16:1220307 [GRCh38] Chr16:1270307 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001349136]|Inborn genetic diseases [RCV002545602] |
Chr16:1202285 [GRCh38] Chr16:1252285 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 |
copy number gain |
See cases [RCV000133780] |
Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 |
copy number loss |
See cases [RCV000134917] |
Chr16:46766..1544014 [GRCh38] Chr16:96766..1594015 [GRCh37] Chr16:36766..1534016 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 |
copy number gain |
See cases [RCV000136687] |
Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 |
copy number loss |
See cases [RCV000137826] |
Chr16:46722..1867327 [GRCh38] Chr16:96722..1917328 [GRCh37] Chr16:36722..1857329 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 |
copy number gain |
See cases [RCV000139166] |
Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 |
copy number loss |
See cases [RCV000141384] |
Chr16:59980..1221651 [GRCh38] Chr16:109978..1271651 [GRCh37] Chr16:49978..1211652 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:925267-1324901)x3 |
copy number gain |
See cases [RCV000142458] |
Chr16:925267..1324901 [GRCh38] Chr16:975267..1374902 [GRCh37] Chr16:915268..1314903 [NCBI36] Chr16:16p13.3 |
likely pathogenic|uncertain significance |
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 |
copy number gain |
See cases [RCV000143710] |
Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11 |
pathogenic |
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001511378]|not provided [RCV000711052]|not specified [RCV000152871] |
Chr16:1200559 [GRCh38] Chr16:1250559 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498724]|Idiopathic generalized epilepsy [RCV000555885]|not provided [RCV001560175]|not specified [RCV000152913] |
Chr16:1218979 [GRCh38] Chr16:1268979 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV000234982]|Primary aldosteronism [RCV000171134]|not provided [RCV003441769] |
Chr16:1212024 [GRCh38] Chr16:1262024 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.411+83G>A |
single nucleotide variant |
not provided [RCV001549521] |
Chr16:1195166 [GRCh38] Chr16:1245166 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+68A>G |
single nucleotide variant |
not provided [RCV001766081] |
Chr16:1198842 [GRCh38] Chr16:1248842 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497090]|Idiopathic generalized epilepsy [RCV000543129]|not provided [RCV003392372] |
Chr16:1208158 [GRCh38] Chr16:1258158 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000546311]|not provided [RCV001712493] |
Chr16:1205206 [GRCh38] Chr16:1255206 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys) |
single nucleotide variant |
Breast ductal adenocarcinoma [RCV000207308]|Idiopathic generalized epilepsy [RCV001240611]|not provided [RCV000711058] |
Chr16:1202074 [GRCh38] Chr16:1252074 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207237] |
Chr16:97494..1257060 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr) |
single nucleotide variant |
CACNA1H-related disorder [RCV000579108]|Idiopathic generalized epilepsy [RCV001431906] |
Chr16:1218372 [GRCh38] Chr16:1268372 [GRCh37] Chr16:16p13.3 |
likely benign|not provided |
NM_021098.3(CACNA1H):c.5887+8A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000544443] |
Chr16:1218659 [GRCh38] Chr16:1268659 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000543928]|not provided [RCV000711085] |
Chr16:1208033 [GRCh38] Chr16:1258033 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
CACNA1H, MET1549VAL |
single nucleotide variant |
HYPERALDOSTERONISM, FAMILIAL, TYPE IV [RCV000234982]|Hyperaldosteronism, familial, type IV [RCV000234982] |
Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.5173+10C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476029]|Idiopathic generalized epilepsy [RCV001086860]|not provided [RCV000513979] |
Chr16:1215385 [GRCh38] Chr16:1265385 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001085269]|not provided [RCV000224903] |
Chr16:1208064 [GRCh38] Chr16:1258064 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser) |
single nucleotide variant |
CACNA1H-related condition [RCV003925611]|Idiopathic generalized epilepsy [RCV001084466]|not provided [RCV000711070] |
Chr16:1202416 [GRCh38] Chr16:1252416 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5670T>A (p.Ser1890Arg) |
single nucleotide variant |
not provided [RCV000519812] |
Chr16:1218434 [GRCh38] Chr16:1268434 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001087150]|Inborn genetic diseases [RCV002527712]|not provided [RCV000544698] |
Chr16:1219006 [GRCh38] Chr16:1269006 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3970-5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001078954]|not provided [RCV000711093] |
Chr16:1210578 [GRCh38] Chr16:1260578 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 |
copy number loss |
See cases [RCV000239415] |
Chr16:88165..1715454 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.546-10C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003915448]|Idiopathic generalized epilepsy [RCV000550382]|not provided [RCV002285348]|not specified [RCV000518163] |
Chr16:1195916 [GRCh38] Chr16:1245916 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003766962]|not provided [RCV000519118] |
Chr16:1205159 [GRCh38] Chr16:1255159 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000525280]|Inborn genetic diseases [RCV003258858] |
Chr16:1209227 [GRCh38] Chr16:1259227 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000548843] |
Chr16:1212513 [GRCh38] Chr16:1262513 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483387]|Idiopathic generalized epilepsy [RCV000526517] |
Chr16:1207807 [GRCh38] Chr16:1257807 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.909G>A (p.Ser303=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001493782] |
Chr16:1200361 [GRCh38] Chr16:1250361 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497092]|Idiopathic generalized epilepsy [RCV000530536]|not provided [RCV001591211] |
Chr16:1209406 [GRCh38] Chr16:1259406 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001082534]|not provided [RCV000711118] |
Chr16:1218604 [GRCh38] Chr16:1268604 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 |
copy number loss |
See cases [RCV000240294] |
Chr16:72769..1511716 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764011]|Idiopathic generalized epilepsy [RCV003765577]|not provided [RCV000327809] |
Chr16:1200282 [GRCh38] Chr16:1250282 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) |
single nucleotide variant |
Hyperaldosteronism [RCV001822856]|Idiopathic generalized epilepsy [RCV001085958]|Inborn genetic diseases [RCV002518802]|not provided [RCV000269196] |
Chr16:1218573 [GRCh38] Chr16:1268573 [GRCh37] Chr16:16p13.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.703CTG[1] (p.Leu236del) |
microsatellite |
not provided [RCV003221637] |
Chr16:1198674..1198676 [GRCh38] Chr16:1248674..1248676 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3973C>T (p.Arg1325Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001964113] |
Chr16:1210586 [GRCh38] Chr16:1260586 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) |
single nucleotide variant |
CACNA1H-related condition [RCV003960279]|Idiopathic generalized epilepsy [RCV000530824]|not provided [RCV001573356]|not specified [RCV001727741] |
Chr16:1201963 [GRCh38] Chr16:1251963 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000704072]|Inborn genetic diseases [RCV003258826]|not provided [RCV000487850] |
Chr16:1202389 [GRCh38] Chr16:1252389 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.7057G>A (p.Val2353Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000526308] |
Chr16:1220989 [GRCh38] Chr16:1270989 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) |
single nucleotide variant |
CACNA1H-related condition [RCV003979960]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002506318]|Idiopathic generalized epilepsy [RCV000553669] |
Chr16:1220475 [GRCh38] Chr16:1270475 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497100]|Idiopathic generalized epilepsy [RCV001510492] |
Chr16:1200340 [GRCh38] Chr16:1250340 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002056810]|not provided [RCV000488279] |
Chr16:1219007 [GRCh38] Chr16:1269007 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4149G>A (p.Met1383Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003268691] |
Chr16:1210897 [GRCh38] Chr16:1260897 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497085]|Idiopathic generalized epilepsy [RCV001086913]|not provided [RCV000711067] |
Chr16:1202274 [GRCh38] Chr16:1252274 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001518493]|not provided [RCV001653879]|not specified [RCV000516429] |
Chr16:1218542 [GRCh38] Chr16:1268542 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481663]|not provided [RCV000516795] |
Chr16:1204402 [GRCh38] Chr16:1254402 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483385]|Idiopathic generalized epilepsy [RCV000551095] |
Chr16:1202341 [GRCh38] Chr16:1252341 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3651C>T (p.Arg1217=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001434049] |
Chr16:1209319 [GRCh38] Chr16:1259319 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506316]|Idiopathic generalized epilepsy [RCV000552065] |
Chr16:1218419 [GRCh38] Chr16:1268419 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.697G>C (p.Val233Leu) |
single nucleotide variant |
not provided [RCV000521934] |
Chr16:1198668 [GRCh38] Chr16:1248668 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483388]|Idiopathic generalized epilepsy [RCV000529810] |
Chr16:1210457 [GRCh38] Chr16:1260457 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6642C>T (p.Thr2214=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000552777] |
Chr16:1220574 [GRCh38] Chr16:1270574 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser) |
single nucleotide variant |
CACNA1H-related condition [RCV003935415]|Idiopathic generalized epilepsy [RCV001079507]|not provided [RCV000711091] |
Chr16:1195057 [GRCh38] Chr16:1245057 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His) |
single nucleotide variant |
CACNA1H-related condition [RCV003960282]|Idiopathic generalized epilepsy [RCV001086886]|not provided [RCV000711131] |
Chr16:1220585 [GRCh38] Chr16:1270585 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001087833]|not provided [RCV000733888] |
Chr16:1200378 [GRCh38] Chr16:1250378 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506312]|Idiopathic generalized epilepsy [RCV000549030]|not provided [RCV000711081] |
Chr16:1154007 [GRCh38] Chr16:1204007 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) |
single nucleotide variant |
CACNA1H-related condition [RCV003915508]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002497088]|Idiopathic generalized epilepsy [RCV001081678]|not provided [RCV000711082] |
Chr16:1207092 [GRCh38] Chr16:1257092 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.108G>C (p.Pro36=) |
single nucleotide variant |
CACNA1H-related condition [RCV003925610]|Idiopathic generalized epilepsy [RCV000549739]|not provided [RCV001764549] |
Chr16:1153845 [GRCh38] Chr16:1203845 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000527448] |
Chr16:1213824 [GRCh38] Chr16:1263824 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4527C>T (p.Ile1509=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000553773] |
Chr16:1211766 [GRCh38] Chr16:1261766 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003766910]|not specified [RCV000516852] |
Chr16:1209366 [GRCh38] Chr16:1259366 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.498C>T (p.Tyr166=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000554158] |
Chr16:1195518 [GRCh38] Chr16:1245518 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490978]|Idiopathic generalized epilepsy [RCV001080899]|not provided [RCV000531821] |
Chr16:1201831 [GRCh38] Chr16:1251831 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000606628]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002490985]|Idiopathic generalized epilepsy [RCV001079522]|not provided [RCV000711113]|not specified [RCV001726220] |
Chr16:1218257 [GRCh38] Chr16:1268257 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.952G>A (p.Gly318Ser) |
single nucleotide variant |
not provided [RCV000593211] |
Chr16:1200404 [GRCh38] Chr16:1250404 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497083]|Idiopathic generalized epilepsy [RCV000551796] |
Chr16:1200481 [GRCh38] Chr16:1250481 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764017]|Idiopathic generalized epilepsy [RCV000532352]|Inborn genetic diseases [RCV003258859] |
Chr16:1211773 [GRCh38] Chr16:1261773 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000554832]|not provided [RCV003392373] |
Chr16:1211495 [GRCh38] Chr16:1261495 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507396]|Idiopathic generalized epilepsy [RCV000806409] |
Chr16:1202194 [GRCh38] Chr16:1252194 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3629C>T (p.Pro1210Leu) |
single nucleotide variant |
CACNA1H-related condition [RCV003892442]|Idiopathic generalized epilepsy [RCV000635079] |
Chr16:1209297 [GRCh38] Chr16:1259297 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000845043]|Idiopathic generalized epilepsy [RCV000556714]|not provided [RCV001551050] |
Chr16:1200446 [GRCh38] Chr16:1250446 [GRCh37] Chr16:16p13.3 |
benign|likely benign|not provided |
NM_021098.3(CACNA1H):c.2603+262G>A |
single nucleotide variant |
not provided [RCV001571994] |
Chr16:1205527 [GRCh38] Chr16:1255527 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000604834]|Idiopathic generalized epilepsy [RCV001084576]|not provided [RCV000541359] |
Chr16:1195509 [GRCh38] Chr16:1245509 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5445+4C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003915513]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002506315]|Idiopathic generalized epilepsy [RCV001080815]|not provided [RCV000711112]|not specified [RCV001702500] |
Chr16:1218044 [GRCh38] Chr16:1268044 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2239C>T (p.Arg747Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000539896] |
Chr16:1204246 [GRCh38] Chr16:1254246 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480272]|not provided [RCV000416192] |
Chr16:1220927 [GRCh38] Chr16:1270927 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506311]|Idiopathic generalized epilepsy [RCV000535030] |
Chr16:1206104 [GRCh38] Chr16:1256104 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) |
indel |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490983]|Idiopathic generalized epilepsy [RCV000537560]|not provided [RCV000658444] |
Chr16:1213782..1213783 [GRCh38] Chr16:1263782..1263783 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr) |
single nucleotide variant |
CACNA1H-related condition [RCV003409781]|Idiopathic generalized epilepsy [RCV000540258]|Inborn genetic diseases [RCV002527714] |
Chr16:1200261 [GRCh38] Chr16:1250261 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1047G>A (p.Ser349=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002060300] |
Chr16:1200499 [GRCh38] Chr16:1250499 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764020]|Idiopathic generalized epilepsy [RCV000537942]|Inborn genetic diseases [RCV003159779] |
Chr16:1219114 [GRCh38] Chr16:1269114 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2030C>T (p.Ser677Leu) |
single nucleotide variant |
CACNA1H-related condition [RCV003960280]|Idiopathic generalized epilepsy [RCV000539819] |
Chr16:1204037 [GRCh38] Chr16:1254037 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6943G>A (p.Gly2315Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000557969]|Inborn genetic diseases [RCV003159780] |
Chr16:1220875 [GRCh38] Chr16:1270875 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000560579] |
Chr16:1210455 [GRCh38] Chr16:1260455 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5655G>A (p.Ala1885=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000541725] |
Chr16:1218419 [GRCh38] Chr16:1268419 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1793C>T (p.Ala598Val) |
single nucleotide variant |
not provided [RCV000412730] |
Chr16:1202243 [GRCh38] Chr16:1252243 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.2338G>T (p.Val780Phe) |
single nucleotide variant |
CACNA1H-related condition [RCV003905352]|Idiopathic generalized epilepsy [RCV000533221] |
Chr16:1204345 [GRCh38] Chr16:1254345 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) |
deletion |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497091]|Idiopathic generalized epilepsy [RCV000558176] |
Chr16:1209079..1209099 [GRCh38] Chr16:1259079..1259099 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln) |
single nucleotide variant |
CACNA1H-related condition [RCV003979957]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002476120]|Idiopathic generalized epilepsy [RCV000535725] |
Chr16:1209282 [GRCh38] Chr16:1259282 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497084]|Idiopathic generalized epilepsy [RCV001084021]|not provided [RCV000711054] |
Chr16:1201686 [GRCh38] Chr16:1251686 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000538267]|Inborn genetic diseases [RCV002527711] |
Chr16:1209312 [GRCh38] Chr16:1259312 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000540783]|not provided [RCV003441922] |
Chr16:1218460 [GRCh38] Chr16:1268460 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490987]|Idiopathic generalized epilepsy [RCV001080410]|not provided [RCV000711123] |
Chr16:1220127 [GRCh38] Chr16:1270127 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1413C>G (p.Val471=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000542122] |
Chr16:1201863 [GRCh38] Chr16:1251863 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6955_6957del (p.Glu2319del) |
deletion |
Idiopathic generalized epilepsy [RCV000536423] |
Chr16:1220887..1220889 [GRCh38] Chr16:1270887..1270889 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4778-5C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003915511]|Idiopathic generalized epilepsy [RCV001084631]|not provided [RCV000711104] |
Chr16:1213775 [GRCh38] Chr16:1263775 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000515664] |
Chr16:1202365 [GRCh38] Chr16:1252365 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506314]|Idiopathic generalized epilepsy [RCV000540966]|Inborn genetic diseases [RCV003159778] |
Chr16:1209410 [GRCh38] Chr16:1259410 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488853]|Idiopathic generalized epilepsy [RCV001865291]|Inborn genetic diseases [RCV002523931]|not specified [RCV000413474] |
Chr16:1212133 [GRCh38] Chr16:1262133 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000541169] |
Chr16:1198704 [GRCh38] Chr16:1248704 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001505357]|not provided [RCV000524730] |
Chr16:1210813 [GRCh38] Chr16:1260813 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) |
single nucleotide variant |
CACNA1H-related condition [RCV003925612]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002490982]|Idiopathic generalized epilepsy [RCV000538663]|not provided [RCV001557636] |
Chr16:1211258 [GRCh38] Chr16:1261258 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5127C>T (p.Ile1709=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001404580] |
Chr16:1215329 [GRCh38] Chr16:1265329 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) |
single nucleotide variant |
Abnormal brain morphology [RCV000454200]|not provided [RCV003237846] |
Chr16:1204058 [GRCh38] Chr16:1254058 [GRCh37] Chr16:16p13.3 |
likely pathogenic|uncertain significance |
NM_021098.3(CACNA1H):c.6898A>G (p.Ile2300Val) |
single nucleotide variant |
Abnormal brain morphology [RCV000454291] |
Chr16:1220830 [GRCh38] Chr16:1270830 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) |
copy number gain |
See cases [RCV000446555] |
Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
NM_021098.3(CACNA1H):c.6159C>T (p.Gly2053=) |
single nucleotide variant |
not specified [RCV000427326] |
Chr16:1220091 [GRCh38] Chr16:1270091 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.486G>T (p.Gly162=) |
single nucleotide variant |
not specified [RCV000434214] |
Chr16:1195506 [GRCh38] Chr16:1245506 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506013]|Idiopathic generalized epilepsy [RCV001294744]|not provided [RCV000443189] |
Chr16:1205117 [GRCh38] Chr16:1255117 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003766189]|not provided [RCV000444894] |
Chr16:1209412 [GRCh38] Chr16:1259412 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001084097]|not provided [RCV000445139]|not specified [RCV003114536] |
Chr16:1215315 [GRCh38] Chr16:1265315 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001298615]|Inborn genetic diseases [RCV002519540]|not provided [RCV000434754] |
Chr16:1209117 [GRCh38] Chr16:1259117 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3362C>G (p.Pro1121Arg) |
single nucleotide variant |
not provided [RCV000442155] |
Chr16:1208220 [GRCh38] Chr16:1258220 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003766210]|not provided [RCV000442229] |
Chr16:1206150 [GRCh38] Chr16:1256150 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001851026]|not provided [RCV000419810] |
Chr16:1204024 [GRCh38] Chr16:1254024 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488917]|Idiopathic generalized epilepsy [RCV001344989]|not provided [RCV000425054] |
Chr16:1209323 [GRCh38] Chr16:1259323 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502496]|Idiopathic generalized epilepsy [RCV000809658]|not provided [RCV000425246] |
Chr16:1206208 [GRCh38] Chr16:1256208 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001405966]|Inborn genetic diseases [RCV002522531]|not provided [RCV000711129] |
Chr16:1220372 [GRCh38] Chr16:1270372 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.908C>T (p.Ser303Leu) |
single nucleotide variant |
not provided [RCV000432121] |
Chr16:1200360 [GRCh38] Chr16:1250360 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764014]|Idiopathic generalized epilepsy [RCV000823388]|not provided [RCV000423781] |
Chr16:1205202 [GRCh38] Chr16:1255202 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481318]|Idiopathic generalized epilepsy [RCV000553048]|Inborn genetic diseases [RCV003243125]|not provided [RCV000419231] |
Chr16:1209314 [GRCh38] Chr16:1259314 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001086363]|See cases [RCV002252118]|not provided [RCV000425498] |
Chr16:1206259 [GRCh38] Chr16:1256259 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 |
copy number gain |
See cases [RCV000445663] |
Chr16:97133..5122974 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000818933]|not provided [RCV000425681] |
Chr16:1209137 [GRCh38] Chr16:1259137 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2662C>A (p.Leu888Met) |
single nucleotide variant |
not provided [RCV000432866] |
Chr16:1206162 [GRCh38] Chr16:1256162 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002062477]|not provided [RCV000426137] |
Chr16:1200281 [GRCh38] Chr16:1250281 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480302]|Idiopathic generalized epilepsy [RCV001056800]|not provided [RCV000426548]|not specified [RCV003387842] |
Chr16:1204078 [GRCh38] Chr16:1254078 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.382T>G (p.Cys128Gly) |
single nucleotide variant |
not provided [RCV000430125] |
Chr16:1195054 [GRCh38] Chr16:1245054 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2146G>T (p.Gly716Cys) |
single nucleotide variant |
not provided [RCV000430343] |
Chr16:1204153 [GRCh38] Chr16:1254153 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1241G>A (p.Cys414Tyr) |
single nucleotide variant |
not provided [RCV000420293] |
Chr16:1201691 [GRCh38] Chr16:1251691 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4586C>T (p.Pro1529Leu) |
single nucleotide variant |
not provided [RCV000423195] |
Chr16:1211965 [GRCh38] Chr16:1261965 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480321]|Idiopathic generalized epilepsy [RCV001047687]|not provided [RCV000444770] |
Chr16:1195051 [GRCh38] Chr16:1245051 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481296]|Idiopathic generalized epilepsy [RCV001865322]|not provided [RCV000444850] |
Chr16:1209138 [GRCh38] Chr16:1259138 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1546C>T (p.His516Tyr) |
single nucleotide variant |
Focal epilepsy [RCV000416956] |
Chr16:1201996 [GRCh38] Chr16:1251996 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1138590-1260377)x3 |
copy number gain |
See cases [RCV000448942] |
Chr16:1138590..1260377 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1239945)_(1300070_?)del |
deletion |
Schizophrenia [RCV000416764] |
Chr16:1239945..1300070 [GRCh37] Chr16:1179946..1240071 [NCBI36] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) |
indel |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001089965]|Idiopathic generalized epilepsy [RCV001244934]|not provided [RCV000481115] |
Chr16:1204216..1204293 [GRCh38] Chr16:1254216..1254293 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4855C>T (p.Leu1619Phe) |
single nucleotide variant |
not provided [RCV000485578] |
Chr16:1213857 [GRCh38] Chr16:1263857 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5145C>T (p.Arg1715=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000531678] |
Chr16:1215347 [GRCh38] Chr16:1265347 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476123]|Idiopathic generalized epilepsy [RCV000532123] |
Chr16:1220497 [GRCh38] Chr16:1270497 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) |
single nucleotide variant |
not provided [RCV000486210] |
Chr16:1208106 [GRCh38] Chr16:1258106 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.2484C>T (p.Ser828=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000554125] |
Chr16:1205146 [GRCh38] Chr16:1255146 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4484T>A (p.Met1495Lys) |
single nucleotide variant |
not provided [RCV000494560] |
Chr16:1211723 [GRCh38] Chr16:1261723 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4145C>T (p.Ala1382Val) |
single nucleotide variant |
not provided [RCV000492902] |
Chr16:1210893 [GRCh38] Chr16:1260893 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 |
copy number gain |
See cases [RCV000510815] |
Chr16:643377..3125125 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001291727]|Idiopathic generalized epilepsy [RCV000550728] |
Chr16:1220194 [GRCh38] Chr16:1270194 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698400] |
Chr16:1219027 [GRCh38] Chr16:1269027 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=) |
single nucleotide variant |
CACNA1H-related condition [RCV003915509]|Idiopathic generalized epilepsy [RCV001084276]|not provided [RCV000711083] |
Chr16:1207334 [GRCh38] Chr16:1257334 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3669C>T (p.Ala1223=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000541750] |
Chr16:1209337 [GRCh38] Chr16:1259337 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000556189] |
Chr16:1213908 [GRCh38] Chr16:1263908 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.39G>A (p.Val13=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000538175] |
Chr16:1153776 [GRCh38] Chr16:1203776 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2772C>T (p.Leu924=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000534321] |
Chr16:1206272 [GRCh38] Chr16:1256272 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000538752] |
Chr16:1220420 [GRCh38] Chr16:1270420 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5621C>T (p.Ala1874Val) |
single nucleotide variant |
CACNA1H-related condition [RCV003979959]|Idiopathic generalized epilepsy [RCV000526839] |
Chr16:1218385 [GRCh38] Chr16:1268385 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.827G>A (p.Arg276Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000538193] |
Chr16:1200279 [GRCh38] Chr16:1250279 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=) |
single nucleotide variant |
CACNA1H-related condition [RCV003915512]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002483389]|Idiopathic generalized epilepsy [RCV000535272]|not provided [RCV003392375] |
Chr16:1216940 [GRCh38] Chr16:1266940 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_021098.3(CACNA1H):c.5446-6C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000535486] |
Chr16:1218204 [GRCh38] Chr16:1268204 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1001G>A (p.Arg334His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635007] |
Chr16:1200453 [GRCh38] Chr16:1250453 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635009] |
Chr16:1218589 [GRCh38] Chr16:1268589 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477393]|Idiopathic generalized epilepsy [RCV000635014] |
Chr16:1209320 [GRCh38] Chr16:1259320 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635015] |
Chr16:1220443 [GRCh38] Chr16:1270443 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635016]|Inborn genetic diseases [RCV002529828] |
Chr16:1201840 [GRCh38] Chr16:1251840 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635017] |
Chr16:1207426 [GRCh38] Chr16:1257426 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483795]|Idiopathic generalized epilepsy [RCV000635018] |
Chr16:1202451 [GRCh38] Chr16:1252451 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635019]|Inborn genetic diseases [RCV002529829] |
Chr16:1220227 [GRCh38] Chr16:1270227 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer) |
deletion |
Idiopathic generalized epilepsy [RCV000635020] |
Chr16:1220243..1220257 [GRCh38] Chr16:1270243..1270257 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635021] |
Chr16:1220185 [GRCh38] Chr16:1270185 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492966]|Idiopathic generalized epilepsy [RCV000635022] |
Chr16:1209405 [GRCh38] Chr16:1259405 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477394]|Idiopathic generalized epilepsy [RCV000635023] |
Chr16:1211578 [GRCh38] Chr16:1261578 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635024]|Inborn genetic diseases [RCV003162834] |
Chr16:1202219 [GRCh38] Chr16:1252219 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) |
single nucleotide variant |
CACNA1H-related condition [RCV003953121]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002483796]|Idiopathic generalized epilepsy [RCV000635025]|Seizure [RCV001263292] |
Chr16:1220129 [GRCh38] Chr16:1270129 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6014G>A (p.Arg2005His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635026] |
Chr16:1219096 [GRCh38] Chr16:1269096 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483797]|Idiopathic generalized epilepsy [RCV000635027] |
Chr16:1200364 [GRCh38] Chr16:1250364 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334116]|Idiopathic generalized epilepsy [RCV000635030] |
Chr16:1206204 [GRCh38] Chr16:1256204 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483798]|Idiopathic generalized epilepsy [RCV000635031] |
Chr16:1201855 [GRCh38] Chr16:1251855 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483799]|Idiopathic generalized epilepsy [RCV000635033]|Inborn genetic diseases [RCV002528871] |
Chr16:1220131 [GRCh38] Chr16:1270131 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4759+1G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635034] |
Chr16:1212139 [GRCh38] Chr16:1262139 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635035] |
Chr16:1208114 [GRCh38] Chr16:1258114 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001336540]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002492967]|Idiopathic generalized epilepsy [RCV000635041]|Inborn genetic diseases [RCV002529831] |
Chr16:1202218 [GRCh38] Chr16:1252218 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu) |
single nucleotide variant |
CACNA1H-related condition [RCV003918014]|Hyperaldosteronism, familial, type IV [RCV003144406]|Idiopathic generalized epilepsy [RCV000635012] |
Chr16:1213837 [GRCh38] Chr16:1263837 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499050]|Idiopathic generalized epilepsy [RCV000635046] |
Chr16:1210635 [GRCh38] Chr16:1260635 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635048] |
Chr16:1210818 [GRCh38] Chr16:1260818 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635057] |
Chr16:1204262 [GRCh38] Chr16:1254262 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635058] |
Chr16:1153877 [GRCh38] Chr16:1203877 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6260G>T (p.Gly2087Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635061] |
Chr16:1220192 [GRCh38] Chr16:1270192 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499052]|Idiopathic generalized epilepsy [RCV000635062] |
Chr16:1207053 [GRCh38] Chr16:1257053 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635063]|not provided [RCV000734672] |
Chr16:1204076 [GRCh38] Chr16:1254076 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483801]|Idiopathic generalized epilepsy [RCV000635064]|Inborn genetic diseases [RCV003372778] |
Chr16:1202245 [GRCh38] Chr16:1252245 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635065] |
Chr16:1220537 [GRCh38] Chr16:1270537 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635066]|See cases [RCV002252184]|not provided [RCV000711056] |
Chr16:1201967 [GRCh38] Chr16:1251967 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492971]|Idiopathic generalized epilepsy [RCV000635067] |
Chr16:1209318 [GRCh38] Chr16:1259318 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3173T>C (p.Leu1058Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635068] |
Chr16:1208031 [GRCh38] Chr16:1258031 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492972]|Idiopathic generalized epilepsy [RCV000635069]|not provided [RCV000995453] |
Chr16:1204222 [GRCh38] Chr16:1254222 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) |
single nucleotide variant |
CACNA1H-related condition [RCV003928065]|Epilepsy, childhood absence, susceptibility to, 6 [RCV000764016]|Idiopathic generalized epilepsy [RCV000635070]|not provided [RCV001529534] |
Chr16:1209257 [GRCh38] Chr16:1259257 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635078] |
Chr16:1213888 [GRCh38] Chr16:1263888 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507070]|Idiopathic generalized epilepsy [RCV001082155]|not provided [RCV000711107] |
Chr16:1215025 [GRCh38] Chr16:1265025 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499054]|Idiopathic generalized epilepsy [RCV000635082] |
Chr16:1202073 [GRCh38] Chr16:1252073 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5052G>A (p.Leu1684=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635083]|Inborn genetic diseases [RCV002334079] |
Chr16:1215254 [GRCh38] Chr16:1265254 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2907+9C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492974]|Idiopathic generalized epilepsy [RCV000635085] |
Chr16:1207127 [GRCh38] Chr16:1257127 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val) |
single nucleotide variant |
CACNA1H-related condition [RCV003905705]|Idiopathic generalized epilepsy [RCV000635088]|not provided [RCV001766356] |
Chr16:1220780 [GRCh38] Chr16:1270780 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1218C>T (p.Gly406=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635090] |
Chr16:1201668 [GRCh38] Chr16:1251668 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635091]|not provided [RCV003392474] |
Chr16:1204160 [GRCh38] Chr16:1254160 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1674G>A (p.Ser558=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635114] |
Chr16:1202124 [GRCh38] Chr16:1252124 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507071]|Idiopathic generalized epilepsy [RCV001494301] |
Chr16:1220373 [GRCh38] Chr16:1270373 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499059]|Idiopathic generalized epilepsy [RCV000635112] |
Chr16:1218258 [GRCh38] Chr16:1268258 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3970-10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635109] |
Chr16:1210573 [GRCh38] Chr16:1260573 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=) |
single nucleotide variant |
CACNA1H-related condition [RCV003965325]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002492975]|Idiopathic generalized epilepsy [RCV002060730] |
Chr16:1220652 [GRCh38] Chr16:1270652 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3600C>T (p.Asp1200=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635126] |
Chr16:1209268 [GRCh38] Chr16:1259268 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499058]|Idiopathic generalized epilepsy [RCV000635103] |
Chr16:1207298 [GRCh38] Chr16:1257298 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3063+9del |
deletion |
Idiopathic generalized epilepsy [RCV000635102] |
Chr16:1207435 [GRCh38] Chr16:1257435 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001088672]|not provided [RCV000635101] |
Chr16:1220303 [GRCh38] Chr16:1270303 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483803]|Idiopathic generalized epilepsy [RCV000635100]|Inborn genetic diseases [RCV002424392]|not provided [RCV000991763] |
Chr16:1204158 [GRCh38] Chr16:1254158 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635098]|not provided [RCV003392475] |
Chr16:1204236 [GRCh38] Chr16:1254236 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.804-4C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635097] |
Chr16:1200252 [GRCh38] Chr16:1250252 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635096]|not provided [RCV001756054] |
Chr16:1210793 [GRCh38] Chr16:1260793 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499057]|Idiopathic generalized epilepsy [RCV000635094]|not provided [RCV002289937] |
Chr16:1210082 [GRCh38] Chr16:1260082 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) |
single nucleotide variant |
CACNA1H-related condition [RCV003905706]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002499056]|Idiopathic generalized epilepsy [RCV001080755]|not provided [RCV000635093] |
Chr16:1200511 [GRCh38] Chr16:1250511 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2175T>G (p.Arg725=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635092] |
Chr16:1204182 [GRCh38] Chr16:1254182 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001084467]|not provided [RCV000711086] |
Chr16:1208047 [GRCh38] Chr16:1258047 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3060G>A (p.Ala1020=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635119] |
Chr16:1207427 [GRCh38] Chr16:1257427 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6252G>A (p.Ala2084=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635122] |
Chr16:1220184 [GRCh38] Chr16:1270184 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001088999]|not provided [RCV000711130] |
Chr16:1220449 [GRCh38] Chr16:1270449 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6460T>A (p.Trp2154Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635125]|Inborn genetic diseases [RCV002529835] |
Chr16:1220392 [GRCh38] Chr16:1270392 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507072]|Idiopathic generalized epilepsy [RCV000635127] |
Chr16:1220418 [GRCh38] Chr16:1270418 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507073]|Idiopathic generalized epilepsy [RCV000635130]|not provided [RCV003389820] |
Chr16:1220130 [GRCh38] Chr16:1270130 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5445+7G>A |
single nucleotide variant |
CACNA1H-related condition [RCV003928067]|Idiopathic generalized epilepsy [RCV000635153] |
Chr16:1218047 [GRCh38] Chr16:1268047 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499065]|Idiopathic generalized epilepsy [RCV000635154] |
Chr16:1209304 [GRCh38] Chr16:1259304 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5634C>T (p.Ala1878=) |
single nucleotide variant |
CACNA1H-related condition [RCV003945601]|Idiopathic generalized epilepsy [RCV000635155] |
Chr16:1218398 [GRCh38] Chr16:1268398 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5989G>A (p.Ala1997Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635156] |
Chr16:1219071 [GRCh38] Chr16:1269071 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4891G>A (p.Val1631Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003282059] |
Chr16:1213893 [GRCh38] Chr16:1263893 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 |
copy number gain |
See cases [RCV000511360] |
Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490986]|Idiopathic generalized epilepsy [RCV000559508] |
Chr16:1219113 [GRCh38] Chr16:1269113 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1222T>C (p.Phe408Leu) |
single nucleotide variant |
not provided [RCV003313609] |
Chr16:1201672 [GRCh38] Chr16:1251672 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000560006]|not provided [RCV001357463] |
Chr16:1212030 [GRCh38] Chr16:1262030 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5249G>A (p.Gly1750Glu) |
single nucleotide variant |
not provided [RCV003327984] |
Chr16:1216936 [GRCh38] Chr16:1266936 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490981]|Idiopathic generalized epilepsy [RCV000541548]|Inborn genetic diseases [RCV002323938] |
Chr16:1207820 [GRCh38] Chr16:1257820 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-4G>A |
single nucleotide variant |
CACNA1H-related condition [RCV003935414]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002476119]|Idiopathic generalized epilepsy [RCV000556239] |
Chr16:1208009 [GRCh38] Chr16:1258009 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2604-4G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000556440] |
Chr16:1206100 [GRCh38] Chr16:1256100 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000556832] |
Chr16:1215556 [GRCh38] Chr16:1265556 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497096]|Idiopathic generalized epilepsy [RCV000534570] |
Chr16:1218275 [GRCh38] Chr16:1268275 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+15G>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506241]|Idiopathic generalized epilepsy [RCV002060192]|not provided [RCV000514185] |
Chr16:1210666 [GRCh38] Chr16:1260666 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV003224322]|Idiopathic generalized epilepsy [RCV000557187] |
Chr16:1201958 [GRCh38] Chr16:1251958 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000613373]|Idiopathic generalized epilepsy [RCV001515306]|not provided [RCV000711119] |
Chr16:1219029 [GRCh38] Chr16:1269029 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 |
copy number gain |
See cases [RCV000510698] |
Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 |
copy number gain |
See cases [RCV000512194] |
Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3 |
pathogenic |
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490979]|Idiopathic generalized epilepsy [RCV001485621] |
Chr16:1204110 [GRCh38] Chr16:1254110 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000533135]|not provided [RCV003392374] |
Chr16:1211508 [GRCh38] Chr16:1261508 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000555649] |
Chr16:1218529 [GRCh38] Chr16:1268529 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1983G>A (p.Pro661=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000540626]|Inborn genetic diseases [RCV002420395] |
Chr16:1202433 [GRCh38] Chr16:1252433 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3970-6C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476121]|Idiopathic generalized epilepsy [RCV000559525] |
Chr16:1210577 [GRCh38] Chr16:1260577 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497086]|Idiopathic generalized epilepsy [RCV000559675] |
Chr16:1202278 [GRCh38] Chr16:1252278 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000537359]|not provided [RCV001575505] |
Chr16:1220866 [GRCh38] Chr16:1270866 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490980]|Idiopathic generalized epilepsy [RCV001084859]|not provided [RCV000711080] |
Chr16:1206131 [GRCh38] Chr16:1256131 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) |
single nucleotide variant |
CACNA1H-related condition [RCV003905353]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002506319]|Idiopathic generalized epilepsy [RCV001080190]|not provided [RCV000711133] |
Chr16:1200271 [GRCh38] Chr16:1250271 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4758G>A (p.Arg1586=) |
single nucleotide variant |
CACNA1H-related condition [RCV003979958]|Idiopathic generalized epilepsy [RCV000533784] |
Chr16:1212137 [GRCh38] Chr16:1262137 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483386]|Idiopathic generalized epilepsy [RCV000533981] |
Chr16:1206205 [GRCh38] Chr16:1256205 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000709893]|Idiopathic generalized epilepsy [RCV001085718]|not provided [RCV000711062] |
Chr16:1202152 [GRCh38] Chr16:1252152 [GRCh37] Chr16:16p13.3 |
benign|not provided |
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000560887] |
Chr16:1220650 [GRCh38] Chr16:1270650 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6713C>T (p.Ser2238Leu) |
single nucleotide variant |
not provided [RCV000585031] |
Chr16:1220645 [GRCh38] Chr16:1270645 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000538527] |
Chr16:1220315 [GRCh38] Chr16:1270315 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1735G>A (p.Asp579Asn) |
single nucleotide variant |
CACNA1H-related condition [RCV003942762]|Idiopathic generalized epilepsy [RCV000534506] |
Chr16:1202185 [GRCh38] Chr16:1252185 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000557377] |
Chr16:1211797 [GRCh38] Chr16:1261797 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) |
single nucleotide variant |
CACNA1H-related condition [RCV003960281]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002490989]|Idiopathic generalized epilepsy [RCV001083033]|not provided [RCV000711126] |
Chr16:1220254 [GRCh38] Chr16:1270254 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-4G>A |
single nucleotide variant |
CACNA1H-related condition [RCV003915510]|Idiopathic generalized epilepsy [RCV001083153]|not provided [RCV000595258] |
Chr16:1210783 [GRCh38] Chr16:1260783 [GRCh37] Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000557825]|not provided [RCV001573395] |
Chr16:1208189 [GRCh38] Chr16:1258189 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) |
single nucleotide variant |
Cerebral arteriovenous malformation [RCV000626955]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002483760]|Idiopathic generalized epilepsy [RCV003767842] |
Chr16:1220816 [GRCh38] Chr16:1270816 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4224-6C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497093]|Idiopathic generalized epilepsy [RCV000539719]|not provided [RCV001573157] |
Chr16:1211162 [GRCh38] Chr16:1261162 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4039-8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000535956] |
Chr16:1210779 [GRCh38] Chr16:1260779 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497097]|Idiopathic generalized epilepsy [RCV000558879] |
Chr16:1220713 [GRCh38] Chr16:1270713 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000536413]|Inborn genetic diseases [RCV002527710]|not provided [RCV003456409] |
Chr16:1208220 [GRCh38] Chr16:1258220 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+8C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490984]|Idiopathic generalized epilepsy [RCV001083004]|not provided [RCV000711106] |
Chr16:1213939 [GRCh38] Chr16:1263939 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635040]|Inborn genetic diseases [RCV003258895] |
Chr16:1202300 [GRCh38] Chr16:1252300 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764012]|Idiopathic generalized epilepsy [RCV000635042] |
Chr16:1201886 [GRCh38] Chr16:1251886 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635043] |
Chr16:1212118 [GRCh38] Chr16:1262118 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492968]|Idiopathic generalized epilepsy [RCV000635044]|Inborn genetic diseases [RCV002529832] |
Chr16:1209249 [GRCh38] Chr16:1259249 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635045] |
Chr16:1213855 [GRCh38] Chr16:1263855 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635047] |
Chr16:1209370 [GRCh38] Chr16:1259370 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492969]|Idiopathic generalized epilepsy [RCV000635049] |
Chr16:1212003 [GRCh38] Chr16:1262003 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483800]|Idiopathic generalized epilepsy [RCV000635050] |
Chr16:1210089 [GRCh38] Chr16:1260089 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635051] |
Chr16:1204180 [GRCh38] Chr16:1254180 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492970]|Idiopathic generalized epilepsy [RCV000635052]|not provided [RCV000711108] |
Chr16:1215283 [GRCh38] Chr16:1265283 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001291760]|Idiopathic generalized epilepsy [RCV000635053] |
Chr16:1209311 [GRCh38] Chr16:1259311 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del) |
deletion |
Idiopathic generalized epilepsy [RCV000635054] |
Chr16:1207848..1207850 [GRCh38] Chr16:1257848..1257850 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2031G>A (p.Ser677=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635055] |
Chr16:1204038 [GRCh38] Chr16:1254038 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635056]|Inborn genetic diseases [RCV002528872] |
Chr16:1204046 [GRCh38] Chr16:1254046 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499051]|Idiopathic generalized epilepsy [RCV000635059] |
Chr16:1220140 [GRCh38] Chr16:1270140 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635060] |
Chr16:1220656 [GRCh38] Chr16:1270656 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635071]|Inborn genetic diseases [RCV002529833] |
Chr16:1219056 [GRCh38] Chr16:1269056 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499053]|Idiopathic generalized epilepsy [RCV000635072] |
Chr16:1210587 [GRCh38] Chr16:1260587 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764019]|Idiopathic generalized epilepsy [RCV000635073] |
Chr16:1218399 [GRCh38] Chr16:1268399 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635074] |
Chr16:1220273 [GRCh38] Chr16:1270273 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334119]|Idiopathic generalized epilepsy [RCV000635075] |
Chr16:1209267 [GRCh38] Chr16:1259267 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483802]|Hyperaldosteronism, familial, type IV [RCV003144407]|Idiopathic generalized epilepsy [RCV000635076] |
Chr16:1218481 [GRCh38] Chr16:1268481 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.546-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002060729] |
Chr16:1195917 [GRCh38] Chr16:1245917 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492973]|Idiopathic generalized epilepsy [RCV000635077] |
Chr16:1220701 [GRCh38] Chr16:1270701 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4986C>T (p.Phe1662=) |
single nucleotide variant |
CACNA1H-related condition [RCV003928066]|Idiopathic generalized epilepsy [RCV000635080] |
Chr16:1215028 [GRCh38] Chr16:1265028 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.543G>A (p.Ala181=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635084] |
Chr16:1195563 [GRCh38] Chr16:1245563 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2538C>T (p.Ala846=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635087] |
Chr16:1205200 [GRCh38] Chr16:1255200 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499055]|Idiopathic generalized epilepsy [RCV001475494]|Inborn genetic diseases [RCV003258896]|not provided [RCV003441982] |
Chr16:1202204 [GRCh38] Chr16:1252204 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4477-7C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002060731] |
Chr16:1211709 [GRCh38] Chr16:1261709 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001087493]|not provided [RCV000635108] |
Chr16:1153917 [GRCh38] Chr16:1203917 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=) |
single nucleotide variant |
CACNA1H-related condition [RCV003935776]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002492976]|Idiopathic generalized epilepsy [RCV000635107] |
Chr16:1202319 [GRCh38] Chr16:1252319 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635105]|not specified [RCV001662677] |
Chr16:1217973 [GRCh38] Chr16:1267973 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.63C>T (p.Gly21=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635104] |
Chr16:1153800 [GRCh38] Chr16:1203800 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477397]|Idiopathic generalized epilepsy [RCV000635099]|Inborn genetic diseases [RCV002386005] |
Chr16:1200445 [GRCh38] Chr16:1250445 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2760G>T (p.Thr920=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001497126] |
Chr16:1206260 [GRCh38] Chr16:1256260 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2294A>G (p.Gln765Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635115] |
Chr16:1204301 [GRCh38] Chr16:1254301 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-3del |
deletion |
Idiopathic generalized epilepsy [RCV000635117] |
Chr16:1200707 [GRCh38] Chr16:1250707 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2002+10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002529834] |
Chr16:1202462 [GRCh38] Chr16:1252462 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499060]|Idiopathic generalized epilepsy [RCV000635120] |
Chr16:1220790 [GRCh38] Chr16:1270790 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6507G>A (p.Lys2169=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635121] |
Chr16:1220439 [GRCh38] Chr16:1270439 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-5C>G |
single nucleotide variant |
CACNA1H-related condition [RCV003980227]|Idiopathic generalized epilepsy [RCV000635123] |
Chr16:1200711 [GRCh38] Chr16:1250711 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1722C>T (p.Ser574=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635128]|Inborn genetic diseases [RCV002404766] |
Chr16:1202172 [GRCh38] Chr16:1252172 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499061]|Idiopathic generalized epilepsy [RCV000635129] |
Chr16:1200520 [GRCh38] Chr16:1250520 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499062]|Idiopathic generalized epilepsy [RCV000635131] |
Chr16:1201821 [GRCh38] Chr16:1251821 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1638C>T (p.Cys546=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635132] |
Chr16:1202088 [GRCh38] Chr16:1252088 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.471C>G (p.Ala157=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635133] |
Chr16:1195491 [GRCh38] Chr16:1245491 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6327C>T (p.Cys2109=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635134] |
Chr16:1220259 [GRCh38] Chr16:1270259 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-7G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492977]|Idiopathic generalized epilepsy [RCV000635135] |
Chr16:1201656 [GRCh38] Chr16:1251656 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4351-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635136] |
Chr16:1211475 [GRCh38] Chr16:1261475 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4223+8dup |
duplication |
CACNA1H-related condition [RCV003953122]|Idiopathic generalized epilepsy [RCV000635137]|not specified [RCV001288105] |
Chr16:1210973..1210974 [GRCh38] Chr16:1260973..1260974 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) |
single nucleotide variant |
CACNA1H-related condition [RCV003965326]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002483804]|Idiopathic generalized epilepsy [RCV000635138] |
Chr16:1204317 [GRCh38] Chr16:1254317 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483805]|Idiopathic generalized epilepsy [RCV000635139] |
Chr16:1220511 [GRCh38] Chr16:1270511 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635141] |
Chr16:1213792 [GRCh38] Chr16:1263792 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) |
single nucleotide variant |
CACNA1H-related condition [RCV003980228]|Idiopathic generalized epilepsy [RCV001085313]|not provided [RCV000711072] |
Chr16:1204064 [GRCh38] Chr16:1254064 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477398]|Idiopathic generalized epilepsy [RCV000635143] |
Chr16:1208119 [GRCh38] Chr16:1258119 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001079671]|not provided [RCV000711074] |
Chr16:1204152 [GRCh38] Chr16:1254152 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) |
single nucleotide variant |
CACNA1H-related condition [RCV003935777]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002507074]|Idiopathic generalized epilepsy [RCV000635145]|not provided [RCV003392476] |
Chr16:1218596 [GRCh38] Chr16:1268596 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3681C>T (p.Asp1227=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635146] |
Chr16:1209349 [GRCh38] Chr16:1259349 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5324-4G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499063]|Idiopathic generalized epilepsy [RCV000635147]|not provided [RCV001573299] |
Chr16:1217915 [GRCh38] Chr16:1267915 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507075]|Idiopathic generalized epilepsy [RCV000635148] |
Chr16:1214974 [GRCh38] Chr16:1264974 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4219C>T (p.Leu1407=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635149] |
Chr16:1210967 [GRCh38] Chr16:1260967 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3408C>T (p.Gly1136=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001079696]|not provided [RCV000635150] |
Chr16:1209076 [GRCh38] Chr16:1259076 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499064]|Idiopathic generalized epilepsy [RCV000635151] |
Chr16:1219109 [GRCh38] Chr16:1269109 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002483806]|Idiopathic generalized epilepsy [RCV000635152] |
Chr16:1201875 [GRCh38] Chr16:1251875 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1129C>T (p.Leu377=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635140] |
Chr16:1200725 [GRCh38] Chr16:1250725 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4224-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000549917] |
Chr16:1211159 [GRCh38] Chr16:1261159 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=) |
single nucleotide variant |
CACNA1H-related condition [RCV003942763]|Idiopathic generalized epilepsy [RCV000532656]|not provided [RCV003392371] |
Chr16:1208134 [GRCh38] Chr16:1258134 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4038+12C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002496977]|Idiopathic generalized epilepsy [RCV002060181]|not provided [RCV000514033] |
Chr16:1210663 [GRCh38] Chr16:1260663 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2]) |
microsatellite |
Idiopathic generalized epilepsy [RCV002530836]|not provided [RCV000585608] |
Chr16:1204261..1204266 [GRCh38] Chr16:1254261..1254266 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507069]|Idiopathic generalized epilepsy [RCV000635010]|Inborn genetic diseases [RCV002528870] |
Chr16:1214973 [GRCh38] Chr16:1264973 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) |
single nucleotide variant |
CACNA1H-related condition [RCV003892441]|Idiopathic generalized epilepsy [RCV000635011]|not provided [RCV002461941] |
Chr16:1204396 [GRCh38] Chr16:1254396 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1937A>C (p.His646Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635013] |
Chr16:1202387 [GRCh38] Chr16:1252387 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635028] |
Chr16:1202320 [GRCh38] Chr16:1252320 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635029] |
Chr16:1220525 [GRCh38] Chr16:1270525 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001861661]|Idiopathic generalized epilepsy [RCV000635032]|not provided [RCV000991764] |
Chr16:1204271 [GRCh38] Chr16:1254271 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000635036] |
Chr16:1211565 [GRCh38] Chr16:1261565 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477395]|Idiopathic generalized epilepsy [RCV000635037]|Inborn genetic diseases [RCV002529830] |
Chr16:1213789 [GRCh38] Chr16:1263789 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477396]|Idiopathic generalized epilepsy [RCV000635038] |
Chr16:1210377 [GRCh38] Chr16:1260377 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764010]|Idiopathic generalized epilepsy [RCV000635039]|Inborn genetic diseases [RCV003162835] |
Chr16:1153908 [GRCh38] Chr16:1203908 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.411+20G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790946] |
Chr16:1195103 [GRCh38] Chr16:1245103 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1980C>T (p.Ile660=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790966] |
Chr16:1202430 [GRCh38] Chr16:1252430 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477526]|Idiopathic generalized epilepsy [RCV000686467] |
Chr16:1209326 [GRCh38] Chr16:1259326 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3519C>T (p.Gly1173=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698904] |
Chr16:1209187 [GRCh38] Chr16:1259187 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507206]|Idiopathic generalized epilepsy [RCV000693808]|not provided [RCV000711087] |
Chr16:1208189 [GRCh38] Chr16:1258189 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) |
deletion |
Hyperaldosteronism, familial, type IV [RCV003144529]|Idiopathic generalized epilepsy [RCV000695331]|not provided [RCV000711064] |
Chr16:1202228..1202239 [GRCh38] Chr16:1252228..1252239 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002485707]|Idiopathic generalized epilepsy [RCV000698474] |
Chr16:1218580 [GRCh38] Chr16:1268580 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698065] |
Chr16:1211178 [GRCh38] Chr16:1261178 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698340] |
Chr16:1220932 [GRCh38] Chr16:1270932 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2603+3G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000685748] |
Chr16:1205268 [GRCh38] Chr16:1255268 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 |
copy number loss |
not provided [RCV000683741] |
Chr16:85880..1875694 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 |
copy number loss |
not provided [RCV000683740] |
Chr16:85880..1498731 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 |
copy number gain |
not provided [RCV000683742] |
Chr16:85880..3216551 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 |
copy number gain |
not provided [RCV000683743] |
Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13 |
pathogenic |
NM_021098.3(CACNA1H):c.5173+5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000701698] |
Chr16:1215380 [GRCh38] Chr16:1265380 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003768100]|not provided [RCV000711065] |
Chr16:1202249 [GRCh38] Chr16:1252249 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002485787]|Idiopathic generalized epilepsy [RCV001461881]|not provided [RCV000711073] |
Chr16:1204068 [GRCh38] Chr16:1254068 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-10C>A |
single nucleotide variant |
not provided [RCV000711095] |
Chr16:1210777 [GRCh38] Chr16:1260777 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.412-5C>G |
single nucleotide variant |
not provided [RCV000711096] |
Chr16:1195427 [GRCh38] Chr16:1245427 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515302]|not provided [RCV000711097] |
Chr16:1211219 [GRCh38] Chr16:1261219 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515303]|not provided [RCV000711098] |
Chr16:1211222 [GRCh38] Chr16:1261222 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515304]|not provided [RCV000711099] |
Chr16:1211282 [GRCh38] Chr16:1261282 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507244]|Idiopathic generalized epilepsy [RCV001203198]|Inborn genetic diseases [RCV003303202]|not provided [RCV000711109] |
Chr16:1215364 [GRCh38] Chr16:1265364 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001512469]|not provided [RCV000711111] |
Chr16:1218013 [GRCh38] Chr16:1268013 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001512470]|not provided [RCV000711114] |
Chr16:1218376 [GRCh38] Chr16:1268376 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515460]|not provided [RCV000711116] |
Chr16:1218485 [GRCh38] Chr16:1268485 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515305]|not provided [RCV000711117] |
Chr16:1218494 [GRCh38] Chr16:1268494 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001512471]|not provided [RCV000711120] |
Chr16:1219095 [GRCh38] Chr16:1269095 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000796351]|not provided [RCV000711121]|not specified [RCV001269149] |
Chr16:1219105 [GRCh38] Chr16:1269105 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477642]|Idiopathic generalized epilepsy [RCV001056277]|not provided [RCV000711100] |
Chr16:1211556 [GRCh38] Chr16:1261556 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) |
single nucleotide variant |
not provided [RCV000711132] |
Chr16:1198721 [GRCh38] Chr16:1248721 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly) |
inversion |
Idiopathic generalized epilepsy [RCV000701983] |
Chr16:1218493..1218494 [GRCh38] Chr16:1268493..1268494 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000688141]|not provided [RCV000995458] |
Chr16:1209405 [GRCh38] Chr16:1259405 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000688412] |
Chr16:1211560 [GRCh38] Chr16:1261560 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499263]|Idiopathic generalized epilepsy [RCV000702766]|not provided [RCV000995461] |
Chr16:1218276 [GRCh38] Chr16:1268276 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000702989] |
Chr16:1218222 [GRCh38] Chr16:1268222 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000699649] |
Chr16:1208138 [GRCh38] Chr16:1258138 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698977] |
Chr16:1211188 [GRCh38] Chr16:1261188 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000685908] |
Chr16:1205127 [GRCh38] Chr16:1255127 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del) |
deletion |
Idiopathic generalized epilepsy [RCV000704169] |
Chr16:1216959..1216961 [GRCh38] Chr16:1266959..1266961 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000692730] |
Chr16:1218001 [GRCh38] Chr16:1268001 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000706808] |
Chr16:1220417 [GRCh38] Chr16:1270417 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000694549] |
Chr16:1200768 [GRCh38] Chr16:1250768 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) |
indel |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493193]|Idiopathic generalized epilepsy [RCV000694682] |
Chr16:1211262..1211263 [GRCh38] Chr16:1261262..1261263 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5445+4C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002485631]|Idiopathic generalized epilepsy [RCV000690107] |
Chr16:1218044 [GRCh38] Chr16:1268044 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000791737]|Inborn genetic diseases [RCV002534491]|not provided [RCV000711063] |
Chr16:1202203 [GRCh38] Chr16:1252203 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001087536]|not provided [RCV000711077] |
Chr16:1204375 [GRCh38] Chr16:1254375 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2604-5C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499283]|Idiopathic generalized epilepsy [RCV001522585]|not provided [RCV000711079] |
Chr16:1206099 [GRCh38] Chr16:1256099 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3846-10G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477641]|Idiopathic generalized epilepsy [RCV001078525]|not provided [RCV000711089] |
Chr16:1210360 [GRCh38] Chr16:1260360 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3852C>A (p.Arg1284=) |
single nucleotide variant |
not provided [RCV000711090] |
Chr16:1210376 [GRCh38] Chr16:1260376 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000704480]|Inborn genetic diseases [RCV002536385] |
Chr16:1220213 [GRCh38] Chr16:1270213 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000707103] |
Chr16:1208118 [GRCh38] Chr16:1258118 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001501769]|not provided [RCV000711101] |
Chr16:1211987 [GRCh38] Chr16:1261987 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000707295]|Inborn genetic diseases [RCV002532867] |
Chr16:1208121 [GRCh38] Chr16:1258121 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764018]|Idiopathic generalized epilepsy [RCV000687780]|Inborn genetic diseases [RCV003243251] |
Chr16:1217937 [GRCh38] Chr16:1267937 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002485660]|Idiopathic generalized epilepsy [RCV000693379]|not provided [RCV003480777] |
Chr16:1218283 [GRCh38] Chr16:1268283 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000690731]|not provided [RCV003327448] |
Chr16:1218441 [GRCh38] Chr16:1268441 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000702411] |
Chr16:1211260 [GRCh38] Chr16:1261260 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493244]|Idiopathic generalized epilepsy [RCV000705352] |
Chr16:1200379 [GRCh38] Chr16:1250379 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2561G>A (p.Arg854Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000703100] |
Chr16:1205223 [GRCh38] Chr16:1255223 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507230]|Idiopathic generalized epilepsy [RCV000703008] |
Chr16:1194985 [GRCh38] Chr16:1244985 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493175]|Idiopathic generalized epilepsy [RCV000691571]|not provided [RCV001573792] |
Chr16:1210449 [GRCh38] Chr16:1260449 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000691639] |
Chr16:1212025 [GRCh38] Chr16:1262025 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000697785] |
Chr16:1212099 [GRCh38] Chr16:1262099 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477630]|Idiopathic generalized epilepsy [RCV000705846]|not provided [RCV001766560] |
Chr16:1220549 [GRCh38] Chr16:1270549 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6235G>A (p.Val2079Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000685388]|Inborn genetic diseases [RCV003163096] |
Chr16:1220167 [GRCh38] Chr16:1270167 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2452-6C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000699499] |
Chr16:1205108 [GRCh38] Chr16:1255108 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000694297] |
Chr16:1207845 [GRCh38] Chr16:1257845 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000694329] |
Chr16:1219055 [GRCh38] Chr16:1269055 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile) |
single nucleotide variant |
CACNA1H-related condition [RCV003411610]|Idiopathic generalized epilepsy [RCV000692208] |
Chr16:1204207 [GRCh38] Chr16:1254207 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764013]|Idiopathic generalized epilepsy [RCV000703767] |
Chr16:1204336 [GRCh38] Chr16:1254336 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5852T>A (p.Val1951Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000700918] |
Chr16:1218616 [GRCh38] Chr16:1268616 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5446-10C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000689764] |
Chr16:1218200 [GRCh38] Chr16:1268200 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000689714] |
Chr16:1207772 [GRCh38] Chr16:1257772 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698612] |
Chr16:1205202 [GRCh38] Chr16:1255202 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2284C>T (p.Arg762Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000697364] |
Chr16:1204291 [GRCh38] Chr16:1254291 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003144504]|Idiopathic generalized epilepsy [RCV000689585] |
Chr16:1195539 [GRCh38] Chr16:1245539 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3154+3G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000706549] |
Chr16:1207863 [GRCh38] Chr16:1257863 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000697532] |
Chr16:1210820 [GRCh38] Chr16:1260820 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493260]|Idiopathic generalized epilepsy [RCV001316213]|not provided [RCV000711057] |
Chr16:1202060 [GRCh38] Chr16:1252060 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001371140]|not provided [RCV000711059] |
Chr16:1202113 [GRCh38] Chr16:1252113 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3154+5G>C |
single nucleotide variant |
not provided [RCV000711084] |
Chr16:1207865 [GRCh38] Chr16:1257865 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001522989]|not provided [RCV000711094] |
Chr16:1210636 [GRCh38] Chr16:1260636 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477643]|Idiopathic generalized epilepsy [RCV001490509]|not provided [RCV000711103] |
Chr16:1212116 [GRCh38] Chr16:1262116 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5244+7G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515703]|not provided [RCV000711110] |
Chr16:1215600 [GRCh38] Chr16:1265600 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001511883]|not provided [RCV000711134] |
Chr16:1200389 [GRCh38] Chr16:1250389 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000692790] |
Chr16:1215066 [GRCh38] Chr16:1265066 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493194]|Idiopathic generalized epilepsy [RCV000694963] |
Chr16:1218285 [GRCh38] Chr16:1268285 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000695055]|Inborn genetic diseases [RCV003258930]|not provided [RCV003392532] |
Chr16:1220176 [GRCh38] Chr16:1270176 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4759+4A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000697601] |
Chr16:1212142 [GRCh38] Chr16:1262142 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000689994]|Inborn genetic diseases [RCV002544860] |
Chr16:1202345 [GRCh38] Chr16:1252345 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499238]|Idiopathic generalized epilepsy [RCV000692930] |
Chr16:1220584 [GRCh38] Chr16:1270584 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000695141] |
Chr16:1213816 [GRCh38] Chr16:1263816 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000702396] |
Chr16:1209188 [GRCh38] Chr16:1259188 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000688286] |
Chr16:1204394 [GRCh38] Chr16:1254394 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000688320]|Inborn genetic diseases [RCV002547122] |
Chr16:1200740 [GRCh38] Chr16:1250740 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6328C>T (p.Pro2110Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000695578] |
Chr16:1220260 [GRCh38] Chr16:1270260 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000693586] |
Chr16:1153765 [GRCh38] Chr16:1203765 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493186]|Idiopathic generalized epilepsy [RCV000693698]|Inborn genetic diseases [RCV002531475]|not provided [RCV001573979] |
Chr16:1210047 [GRCh38] Chr16:1260047 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002485620]|Idiopathic generalized epilepsy [RCV000688596] |
Chr16:1204190 [GRCh38] Chr16:1254190 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764015]|Idiopathic generalized epilepsy [RCV000707717] |
Chr16:1207773 [GRCh38] Chr16:1257773 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000695867] |
Chr16:1209269 [GRCh38] Chr16:1259269 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000695900] |
Chr16:1219052 [GRCh38] Chr16:1269052 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV000764021]|Idiopathic generalized epilepsy [RCV000688746] |
Chr16:1220555 [GRCh38] Chr16:1270555 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000688780]|not specified [RCV001192701] |
Chr16:1205204 [GRCh38] Chr16:1255204 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000696059] |
Chr16:1153886 [GRCh38] Chr16:1203886 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000696065] |
Chr16:1218442 [GRCh38] Chr16:1268442 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002485740]|Idiopathic generalized epilepsy [RCV000703250] |
Chr16:1210811 [GRCh38] Chr16:1260811 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.552G>A (p.Met184Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000688993] |
Chr16:1195932 [GRCh38] Chr16:1245932 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499231]|Idiopathic generalized epilepsy [RCV000691196] |
Chr16:1204120 [GRCh38] Chr16:1254120 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del) |
microsatellite |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477522]|Idiopathic generalized epilepsy [RCV000685338] |
Chr16:1220482..1220484 [GRCh38] Chr16:1270482..1270484 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477604]|Hyperaldosteronism, familial, type IV [RCV003144548]|Idiopathic generalized epilepsy [RCV000699950] |
Chr16:1200305 [GRCh38] Chr16:1250305 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000685659] |
Chr16:1219065 [GRCh38] Chr16:1269065 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000698976] |
Chr16:1220402 [GRCh38] Chr16:1270402 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477622]|Hyperaldosteronism, familial, type IV [RCV003144562]|Idiopathic generalized epilepsy [RCV000703434] |
Chr16:1209176 [GRCh38] Chr16:1259176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000696888] |
Chr16:1206127 [GRCh38] Chr16:1256127 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4]) |
microsatellite |
Idiopathic generalized epilepsy [RCV000697000] |
Chr16:1204260..1204261 [GRCh38] Chr16:1254260..1254261 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001839017]|Idiopathic generalized epilepsy [RCV000686917] |
Chr16:1218582 [GRCh38] Chr16:1268582 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000703575] |
Chr16:1218516 [GRCh38] Chr16:1268516 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000703620] |
Chr16:1218031 [GRCh38] Chr16:1268031 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000692254] |
Chr16:1204195 [GRCh38] Chr16:1254195 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6959A>G (p.Lys2320Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001907874] |
Chr16:1220891 [GRCh38] Chr16:1270891 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507395]|Idiopathic generalized epilepsy [RCV000806109] |
Chr16:1195027 [GRCh38] Chr16:1245027 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1016057-1273638)x3 |
copy number gain |
not provided [RCV000738972] |
Chr16:1016057..1273638 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1121226-1273638)x3 |
copy number gain |
not provided [RCV000738977] |
Chr16:1121226..1273638 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1129872-1273638)x3 |
copy number gain |
not provided [RCV000738978] |
Chr16:1129872..1273638 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1234842-1246270)x1 |
copy number loss |
not provided [RCV000751496] |
Chr16:1234842..1246270 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1235409-1250559)x1 |
copy number loss |
not provided [RCV000751497] |
Chr16:1235409..1250559 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1251760-1255545)x4 |
copy number gain |
not provided [RCV000751498] |
Chr16:1251760..1255545 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1251760-1272676)x3 |
copy number gain |
not provided [RCV000751499] |
Chr16:1251760..1272676 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1261282-1288881)x3 |
copy number gain |
not provided [RCV000751500] |
Chr16:1261282..1288881 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 |
copy number loss |
not provided [RCV000751445] |
Chr16:61451..1593645 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.3004G>A (p.Gly1002Ser) |
single nucleotide variant |
not provided [RCV001530659] |
Chr16:1207371 [GRCh38] Chr16:1257371 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5245-256G>A |
single nucleotide variant |
not provided [RCV001665747] |
Chr16:1216676 [GRCh38] Chr16:1266676 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.644-301C>G |
single nucleotide variant |
not provided [RCV001679832] |
Chr16:1198314 [GRCh38] Chr16:1248314 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2203C>T (p.Arg735Trp) |
single nucleotide variant |
CACNA1H-related condition [RCV003392691]|Idiopathic generalized epilepsy [RCV000914213] |
Chr16:1204210 [GRCh38] Chr16:1254210 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2743G>A (p.Val915Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001542332] |
Chr16:1206243 [GRCh38] Chr16:1256243 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6895G>T (p.Ala2299Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001542439] |
Chr16:1220827 [GRCh38] Chr16:1270827 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6555G>A (p.Lys2185=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000977681] |
Chr16:1220487 [GRCh38] Chr16:1270487 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-95G>A |
single nucleotide variant |
not provided [RCV001610240] |
Chr16:1194877 [GRCh38] Chr16:1244877 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503122]|Idiopathic generalized epilepsy [RCV001502433] |
Chr16:1215037 [GRCh38] Chr16:1265037 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489259]|Idiopathic generalized epilepsy [RCV001464037] |
Chr16:1200802 [GRCh38] Chr16:1250802 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.636C>T (p.Arg212=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000939203] |
Chr16:1196016 [GRCh38] Chr16:1246016 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-154_2452-153insA |
insertion |
not provided [RCV001546160] |
Chr16:1204960..1204961 [GRCh38] Chr16:1254960..1254961 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) |
deletion |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488421]|not provided [RCV001583696] |
Chr16:1202230..1202235 [GRCh38] Chr16:1252230..1252235 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2003-261C>T |
single nucleotide variant |
not provided [RCV001546478] |
Chr16:1203749 [GRCh38] Chr16:1253749 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-293C>T |
single nucleotide variant |
not provided [RCV001681626] |
Chr16:1204821 [GRCh38] Chr16:1254821 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4039-5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000960812] |
Chr16:1210782 [GRCh38] Chr16:1260782 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.644-56C>T |
single nucleotide variant |
not provided [RCV001567029] |
Chr16:1198559 [GRCh38] Chr16:1248559 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4232G>T (p.Ser1411Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003267275] |
Chr16:1211176 [GRCh38] Chr16:1261176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4862T>C (p.Leu1621Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001043121] |
Chr16:1213864 [GRCh38] Chr16:1263864 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3744+190C>A |
single nucleotide variant |
not provided [RCV001584731] |
Chr16:1209602 [GRCh38] Chr16:1259602 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002067592]|not provided [RCV000991766] |
Chr16:1205209 [GRCh38] Chr16:1255209 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002550630]|not provided [RCV000991769] |
Chr16:1200412 [GRCh38] Chr16:1250412 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.677C>T (p.Thr226Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001066300] |
Chr16:1198648 [GRCh38] Chr16:1248648 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479276]|Idiopathic generalized epilepsy [RCV001044465]|Idiopathic generalized epilepsy [RCV003233934] |
Chr16:1211271 [GRCh38] Chr16:1261271 [GRCh37] Chr16:16p13.3 |
uncertain significance|not provided |
NM_021098.3(CACNA1H):c.5335G>T (p.Asp1779Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001046062] |
Chr16:1217930 [GRCh38] Chr16:1267930 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2452-31C>T |
single nucleotide variant |
not provided [RCV001681203] |
Chr16:1205083 [GRCh38] Chr16:1255083 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.177C>T (p.Gly59=) |
single nucleotide variant |
CACNA1H-related condition [RCV003960612]|Idiopathic generalized epilepsy [RCV000950327] |
Chr16:1153914 [GRCh38] Chr16:1203914 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000929442] |
Chr16:1215558 [GRCh38] Chr16:1265558 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4644C>T (p.Asn1548=) |
single nucleotide variant |
CACNA1H-related condition [RCV003903001]|Idiopathic generalized epilepsy [RCV001407376] |
Chr16:1212023 [GRCh38] Chr16:1262023 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2133G>A (p.Glu711=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945871] |
Chr16:1204140 [GRCh38] Chr16:1254140 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2296A>T (p.Arg766Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000898367] |
Chr16:1204303 [GRCh38] Chr16:1254303 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4780G>T (p.Ala1594Ser) |
single nucleotide variant |
CACNA1H-related condition [RCV003962961]|not provided [RCV000983872] |
Chr16:1213782 [GRCh38] Chr16:1263782 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2907+8C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495469]|Idiopathic generalized epilepsy [RCV001490055] |
Chr16:1207126 [GRCh38] Chr16:1257126 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000973838]|Inborn genetic diseases [RCV003169490] |
Chr16:1219084 [GRCh38] Chr16:1269084 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3168T>C (p.Cys1056=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001489220] |
Chr16:1208026 [GRCh38] Chr16:1258026 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1191C>T (p.Ile397=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945984] |
Chr16:1200787 [GRCh38] Chr16:1250787 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502899]|Idiopathic generalized epilepsy [RCV000946047] |
Chr16:1218524 [GRCh38] Chr16:1268524 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502990]|Idiopathic generalized epilepsy [RCV000958422] |
Chr16:1218443 [GRCh38] Chr16:1268443 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6084T>A (p.Ile2028=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001461337] |
Chr16:1220016 [GRCh38] Chr16:1270016 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6694C>T (p.Leu2232=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001417510] |
Chr16:1220626 [GRCh38] Chr16:1270626 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6993T>C (p.Cys2331=) |
single nucleotide variant |
not provided [RCV000919917] |
Chr16:1220925 [GRCh38] Chr16:1270925 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4386C>T (p.Pro1462=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000946106] |
Chr16:1211516 [GRCh38] Chr16:1261516 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6768C>T (p.Cys2256=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001435449] |
Chr16:1220700 [GRCh38] Chr16:1270700 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487990]|Idiopathic generalized epilepsy [RCV001505887] |
Chr16:1220553 [GRCh38] Chr16:1270553 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502632]|Idiopathic generalized epilepsy [RCV001521188] |
Chr16:1209241 [GRCh38] Chr16:1259241 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5324-5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000936774] |
Chr16:1217914 [GRCh38] Chr16:1267914 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6867C>T (p.Thr2289=) |
single nucleotide variant |
not provided [RCV000898919] |
Chr16:1220799 [GRCh38] Chr16:1270799 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505404]|Idiopathic generalized epilepsy [RCV000945546]|not provided [RCV003389850] |
Chr16:1196004 [GRCh38] Chr16:1246004 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2789+8C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000964608] |
Chr16:1206297 [GRCh38] Chr16:1256297 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001417952]|not provided [RCV003392694] |
Chr16:1208128 [GRCh38] Chr16:1258128 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3618G>A (p.Pro1206=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000877845] |
Chr16:1209286 [GRCh38] Chr16:1259286 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) |
single nucleotide variant |
CACNA1H-related condition [RCV003948262]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002501350]|Idiopathic generalized epilepsy [RCV001080756]|not provided [RCV000877892] |
Chr16:1211963 [GRCh38] Chr16:1261963 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2546C>T (p.Pro849Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945341] |
Chr16:1205208 [GRCh38] Chr16:1255208 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4857C>T (p.Leu1619=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001439493] |
Chr16:1213859 [GRCh38] Chr16:1263859 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000877993] |
Chr16:1196033 [GRCh38] Chr16:1246033 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3617C>T (p.Pro1206Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945406] |
Chr16:1209285 [GRCh38] Chr16:1259285 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000975986]|Inborn genetic diseases [RCV003259024] |
Chr16:1204349 [GRCh38] Chr16:1254349 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3930C>A (p.Thr1310=) |
single nucleotide variant |
not provided [RCV000904513] |
Chr16:1210454 [GRCh38] Chr16:1260454 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502699]|Idiopathic generalized epilepsy [RCV001404185] |
Chr16:1210094 [GRCh38] Chr16:1260094 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-5C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502902]|Idiopathic generalized epilepsy [RCV000946355] |
Chr16:1208008 [GRCh38] Chr16:1258008 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945937]|not provided [RCV001573578] |
Chr16:1220554 [GRCh38] Chr16:1270554 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001426055] |
Chr16:1153958 [GRCh38] Chr16:1203958 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494676]|Idiopathic generalized epilepsy [RCV000946365] |
Chr16:1204325 [GRCh38] Chr16:1254325 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5787C>T (p.Asn1929=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001441323] |
Chr16:1218551 [GRCh38] Chr16:1268551 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2622G>T (p.Gly874=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000915368] |
Chr16:1206122 [GRCh38] Chr16:1256122 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3621C>T (p.Ala1207=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000882552] |
Chr16:1209289 [GRCh38] Chr16:1259289 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4781C>T (p.Ala1594Val) |
single nucleotide variant |
CACNA1H-related condition [RCV003962952]|not provided [RCV000981722] |
Chr16:1213783 [GRCh38] Chr16:1263783 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4759+8G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501353]|Idiopathic generalized epilepsy [RCV000878183]|not specified [RCV001644856] |
Chr16:1212146 [GRCh38] Chr16:1262146 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495557]|Idiopathic generalized epilepsy [RCV000926151] |
Chr16:1219040 [GRCh38] Chr16:1269040 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.528C>T (p.Phe176=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000926152]|not provided [RCV003392696] |
Chr16:1195548 [GRCh38] Chr16:1245548 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479077]|Idiopathic generalized epilepsy [RCV000927114] |
Chr16:1211231 [GRCh38] Chr16:1261231 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.876C>T (p.Ser292=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000928967] |
Chr16:1200328 [GRCh38] Chr16:1250328 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502900]|Idiopathic generalized epilepsy [RCV000946192] |
Chr16:1207052 [GRCh38] Chr16:1257052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.699C>T (p.Val233=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495473]|Idiopathic generalized epilepsy [RCV002068652] |
Chr16:1198670 [GRCh38] Chr16:1248670 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6693C>T (p.Ser2231=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001410925] |
Chr16:1220625 [GRCh38] Chr16:1270625 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3063+9G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000981017] |
Chr16:1207439 [GRCh38] Chr16:1257439 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2349C>T (p.Ser783=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000949151] |
Chr16:1204356 [GRCh38] Chr16:1254356 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3115G>A (p.Glu1039Lys) |
single nucleotide variant |
CACNA1H-related condition [RCV003978222]|Idiopathic generalized epilepsy [RCV000950890]|not specified [RCV001664566] |
Chr16:1207821 [GRCh38] Chr16:1257821 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6600C>T (p.Asp2200=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000946369] |
Chr16:1220532 [GRCh38] Chr16:1270532 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3861C>T (p.Cys1287=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001512238] |
Chr16:1210385 [GRCh38] Chr16:1260385 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5961C>T (p.Ser1987=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001474129] |
Chr16:1219043 [GRCh38] Chr16:1269043 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503040]|Idiopathic generalized epilepsy [RCV000966669] |
Chr16:1219016 [GRCh38] Chr16:1269016 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502813]|Idiopathic generalized epilepsy [RCV000924519] |
Chr16:1207379 [GRCh38] Chr16:1257379 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2961C>T (p.Thr987=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000916078] |
Chr16:1207328 [GRCh38] Chr16:1257328 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501352]|Idiopathic generalized epilepsy [RCV000878162]|Inborn genetic diseases [RCV002454055] |
Chr16:1205245 [GRCh38] Chr16:1255245 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505370]|Idiopathic generalized epilepsy [RCV000924789] |
Chr16:1220292 [GRCh38] Chr16:1270292 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5718G>A (p.Pro1906=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001495813] |
Chr16:1218482 [GRCh38] Chr16:1268482 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503002]|Idiopathic generalized epilepsy [RCV001488402] |
Chr16:1204413 [GRCh38] Chr16:1254413 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.240C>T (p.Phe80=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945774] |
Chr16:1153977 [GRCh38] Chr16:1203977 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2003-5C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501386]|Idiopathic generalized epilepsy [RCV000881403] |
Chr16:1204005 [GRCh38] Chr16:1254005 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000878630]|not provided [RCV003884781] |
Chr16:1204441 [GRCh38] Chr16:1254441 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4650C>T (p.Phe1550=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001480467] |
Chr16:1212029 [GRCh38] Chr16:1262029 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5665G>A (p.Gly1889Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001051026] |
Chr16:1218429 [GRCh38] Chr16:1268429 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489607]|Idiopathic generalized epilepsy [RCV001049096] |
Chr16:1209365 [GRCh38] Chr16:1259365 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2437G>C (p.Glu813Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001049119] |
Chr16:1204444 [GRCh38] Chr16:1254444 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.793G>A (p.Ala265Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001055143] |
Chr16:1198764 [GRCh38] Chr16:1248764 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001035157] |
Chr16:1153966 [GRCh38] Chr16:1203966 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4566+4C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479305]|Idiopathic generalized epilepsy [RCV001049430] |
Chr16:1211809 [GRCh38] Chr16:1261809 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6764C>T (p.Ser2255Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001061498] |
Chr16:1220696 [GRCh38] Chr16:1270696 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6193G>A (p.Ala2065Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001061588] |
Chr16:1220125 [GRCh38] Chr16:1270125 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1226T>A (p.Phe409Tyr) |
single nucleotide variant |
not provided [RCV000995450] |
Chr16:1201676 [GRCh38] Chr16:1251676 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001316967]|not provided [RCV000995451] |
Chr16:1202443 [GRCh38] Chr16:1252443 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002549912]|not provided [RCV000995455] |
Chr16:1204406 [GRCh38] Chr16:1254406 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489494]|Idiopathic generalized epilepsy [RCV003769341]|not provided [RCV000995456] |
Chr16:1205127 [GRCh38] Chr16:1255127 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3352C>A (p.Gln1118Lys) |
single nucleotide variant |
not provided [RCV000995457] |
Chr16:1208210 [GRCh38] Chr16:1258210 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497301]|Idiopathic generalized epilepsy [RCV001058782]|not provided [RCV000995460]|not specified [RCV003331015] |
Chr16:1217941 [GRCh38] Chr16:1267941 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497373]|Idiopathic generalized epilepsy [RCV001042180] |
Chr16:1215036 [GRCh38] Chr16:1265036 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2363G>A (p.Arg788His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001042191] |
Chr16:1204370 [GRCh38] Chr16:1254370 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479235]|Idiopathic generalized epilepsy [RCV001035815] |
Chr16:1195555 [GRCh38] Chr16:1245555 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497406]|Idiopathic generalized epilepsy [RCV001051560] |
Chr16:1213822 [GRCh38] Chr16:1263822 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497385]|Idiopathic generalized epilepsy [RCV001046855] |
Chr16:1220641 [GRCh38] Chr16:1270641 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NC_000016.10:g.(?_1214952)_(1221014_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001033849] |
Chr16:1264952..1271014 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489550]|Idiopathic generalized epilepsy [RCV001038042] |
Chr16:1204022 [GRCh38] Chr16:1254022 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
GRCh37/hg19 16p13.3(chr16:109978-4316797) |
copy number gain |
Chromosome 16p13.3 duplication syndrome [RCV000767731] |
Chr16:109978..4316797 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489649]|Idiopathic generalized epilepsy [RCV001057388] |
Chr16:1218452 [GRCh38] Chr16:1268452 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001060052] |
Chr16:1206130 [GRCh38] Chr16:1256130 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6692C>A (p.Ser2231Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001039685] |
Chr16:1220624 [GRCh38] Chr16:1270624 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001036210]|Inborn genetic diseases [RCV003259036] |
Chr16:1220183 [GRCh38] Chr16:1270183 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3768A>G (p.Lys1256=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001037316] |
Chr16:1210058 [GRCh38] Chr16:1260058 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001336541]|Idiopathic generalized epilepsy [RCV001040430] |
Chr16:1204159 [GRCh38] Chr16:1254159 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5823G>A (p.Ser1941=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001057678] |
Chr16:1218587 [GRCh38] Chr16:1268587 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482020]|Idiopathic generalized epilepsy [RCV001057680]|not provided [RCV003442180] |
Chr16:1206216 [GRCh38] Chr16:1256216 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2002+11_2002+14dup |
duplication |
Idiopathic generalized epilepsy [RCV000980365] |
Chr16:1202460..1202461 [GRCh38] Chr16:1252460..1252461 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3555G>C (p.Ala1185=) |
single nucleotide variant |
not provided [RCV000939573] |
Chr16:1209223 [GRCh38] Chr16:1259223 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4387G>A (p.Asp1463Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000968141] |
Chr16:1211517 [GRCh38] Chr16:1261517 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2789+10A>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502675]|Idiopathic generalized epilepsy [RCV000902838] |
Chr16:1206299 [GRCh38] Chr16:1256299 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495479]|Idiopathic generalized epilepsy [RCV002065733] |
Chr16:1195956 [GRCh38] Chr16:1245956 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001085806]|not provided [RCV000930642] |
Chr16:1220673 [GRCh38] Chr16:1270673 [GRCh37] Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021098.3(CACNA1H):c.3496C>T (p.Leu1166=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001432419] |
Chr16:1209164 [GRCh38] Chr16:1259164 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6357C>T (p.Gly2119=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000981554] |
Chr16:1220289 [GRCh38] Chr16:1270289 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5295G>A (p.Ala1765=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000969812] |
Chr16:1216982 [GRCh38] Chr16:1266982 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5446-4G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000938619] |
Chr16:1218206 [GRCh38] Chr16:1268206 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5433C>T (p.Asn1811=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000916688] |
Chr16:1218028 [GRCh38] Chr16:1268028 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1189A>G (p.Ile397Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000916710] |
Chr16:1200785 [GRCh38] Chr16:1250785 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1378C>T (p.Leu460=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001444040] |
Chr16:1201828 [GRCh38] Chr16:1251828 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.132C>T (p.Ser44=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002066018]|Inborn genetic diseases [RCV002382097] |
Chr16:1153869 [GRCh38] Chr16:1203869 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6871G>A (p.Glu2291Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000951497] |
Chr16:1220803 [GRCh38] Chr16:1270803 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000908317] |
Chr16:1210362 [GRCh38] Chr16:1260362 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489353]|Idiopathic generalized epilepsy [RCV000960676] |
Chr16:1220652 [GRCh38] Chr16:1270652 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489281]|Idiopathic generalized epilepsy [RCV000945599] |
Chr16:1154010 [GRCh38] Chr16:1204010 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502894]|Idiopathic generalized epilepsy [RCV000945732] |
Chr16:1195935 [GRCh38] Chr16:1245935 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5749C>T (p.Arg1917Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000886664] |
Chr16:1218513 [GRCh38] Chr16:1268513 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2937C>G (p.Val979=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000915717]|Inborn genetic diseases [RCV002434208] |
Chr16:1207304 [GRCh38] Chr16:1257304 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501426]|Idiopathic generalized epilepsy [RCV000886762] |
Chr16:1207841 [GRCh38] Chr16:1257841 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1515C>T (p.Arg505=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001467183]|Inborn genetic diseases [RCV002390973] |
Chr16:1201965 [GRCh38] Chr16:1251965 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000983930]|Inborn genetic diseases [RCV002549612] |
Chr16:1153750 [GRCh38] Chr16:1203750 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.412-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001452930] |
Chr16:1195423 [GRCh38] Chr16:1245423 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2216G>A (p.Arg739His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000981729] |
Chr16:1204223 [GRCh38] Chr16:1254223 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489240]|Idiopathic generalized epilepsy [RCV000931529] |
Chr16:1200277 [GRCh38] Chr16:1250277 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4548C>T (p.Ala1516=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002544438]|not provided [RCV000931546] |
Chr16:1211787 [GRCh38] Chr16:1261787 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.831G>C (p.Pro277=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000979207] |
Chr16:1200283 [GRCh38] Chr16:1250283 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6219C>T (p.Thr2073=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002540938] |
Chr16:1220151 [GRCh38] Chr16:1270151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505441]|Idiopathic generalized epilepsy [RCV000960455] |
Chr16:1206215 [GRCh38] Chr16:1256215 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5916C>G (p.Pro1972=) |
single nucleotide variant |
not provided [RCV000940688] |
Chr16:1218998 [GRCh38] Chr16:1268998 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) |
single nucleotide variant |
CACNA1H-related condition [RCV003928623]|Epilepsy, childhood absence, susceptibility to, 6 [RCV001028016]|Idiopathic generalized epilepsy [RCV000981765]|Inborn genetic diseases [RCV002548458]|not provided [RCV001354189] |
Chr16:1201879 [GRCh38] Chr16:1251879 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5640C>T (p.Ile1880=) |
single nucleotide variant |
CACNA1H-related condition [RCV003903088]|Idiopathic generalized epilepsy [RCV000931662] |
Chr16:1218404 [GRCh38] Chr16:1268404 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5446-5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000917513] |
Chr16:1218205 [GRCh38] Chr16:1268205 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503003]|Idiopathic generalized epilepsy [RCV001471925] |
Chr16:1153780 [GRCh38] Chr16:1203780 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-8G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000960781] |
Chr16:1205106 [GRCh38] Chr16:1255106 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-10G>C |
single nucleotide variant |
not provided [RCV000877775] |
Chr16:1210360 [GRCh38] Chr16:1260360 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5124C>A (p.Pro1708=) |
single nucleotide variant |
CACNA1H-related condition [RCV003895604]|Idiopathic generalized epilepsy [RCV000921525] |
Chr16:1215326 [GRCh38] Chr16:1265326 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2955C>T (p.Ala985=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001505916] |
Chr16:1207322 [GRCh38] Chr16:1257322 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5112C>T (p.Ser1704=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001490506] |
Chr16:1215314 [GRCh38] Chr16:1265314 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6249G>A (p.Pro2083=) |
single nucleotide variant |
CACNA1H-related condition [RCV003930521]|Idiopathic generalized epilepsy [RCV000880678] |
Chr16:1220181 [GRCh38] Chr16:1270181 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4174C>T (p.Leu1392=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001412279] |
Chr16:1210922 [GRCh38] Chr16:1260922 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.651G>A (p.Arg217=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001451216] |
Chr16:1198622 [GRCh38] Chr16:1248622 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489442]|Idiopathic generalized epilepsy [RCV001448433] |
Chr16:1218293 [GRCh38] Chr16:1268293 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505403]|Idiopathic generalized epilepsy [RCV000945529] |
Chr16:1220463 [GRCh38] Chr16:1270463 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2676G>A (p.Leu892=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001422076] |
Chr16:1206176 [GRCh38] Chr16:1256176 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502770]|Idiopathic generalized epilepsy [RCV000916247] |
Chr16:1200451 [GRCh38] Chr16:1250451 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4890C>T (p.Asn1630=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000977687] |
Chr16:1213892 [GRCh38] Chr16:1263892 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4710G>A (p.Ala1570=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000919138] |
Chr16:1212089 [GRCh38] Chr16:1262089 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-8G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000946253] |
Chr16:1194964 [GRCh38] Chr16:1244964 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501489]|Idiopathic generalized epilepsy [RCV000893966] |
Chr16:1200724 [GRCh38] Chr16:1250724 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-6A>C |
single nucleotide variant |
not provided [RCV000877776] |
Chr16:1210364 [GRCh38] Chr16:1260364 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488007]|Idiopathic generalized epilepsy [RCV001417961] |
Chr16:1153875 [GRCh38] Chr16:1203875 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502816]|Idiopathic generalized epilepsy [RCV000924788] |
Chr16:1213865 [GRCh38] Chr16:1263865 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1920G>A (p.Pro640=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000972024] |
Chr16:1202370 [GRCh38] Chr16:1252370 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3147G>C (p.Gln1049His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000886030] |
Chr16:1207853 [GRCh38] Chr16:1257853 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505361]|Idiopathic generalized epilepsy [RCV001487105] |
Chr16:1220253 [GRCh38] Chr16:1270253 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6429C>T (p.Phe2143=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002066155] |
Chr16:1220361 [GRCh38] Chr16:1270361 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000818939]|not provided [RCV001776036] |
Chr16:1213924 [GRCh38] Chr16:1263924 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6942C>T (p.Val2314=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000960444] |
Chr16:1220874 [GRCh38] Chr16:1270874 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000793366] |
Chr16:1220047 [GRCh38] Chr16:1270047 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5996C>T (p.Ser1999Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000809979] |
Chr16:1219078 [GRCh38] Chr16:1269078 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501111]|Idiopathic generalized epilepsy [RCV000812866] |
Chr16:1204289 [GRCh38] Chr16:1254289 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000799256] |
Chr16:1200303 [GRCh38] Chr16:1250303 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000819018] |
Chr16:1210814 [GRCh38] Chr16:1260814 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000819021]|Inborn genetic diseases [RCV003362975] |
Chr16:1218541 [GRCh38] Chr16:1268541 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495093]|Idiopathic generalized epilepsy [RCV000804489]|not provided [RCV003482313] |
Chr16:1204199 [GRCh38] Chr16:1254199 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495050]|Idiopathic generalized epilepsy [RCV000796645]|Inborn genetic diseases [RCV002534605] |
Chr16:1220770 [GRCh38] Chr16:1270770 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2346C>A (p.Phe782Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000796729] |
Chr16:1204353 [GRCh38] Chr16:1254353 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1086C>T (p.Asp362=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001461804] |
Chr16:1200538 [GRCh38] Chr16:1250538 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs) |
microsatellite |
Idiopathic generalized epilepsy [RCV000814288] |
Chr16:1201735..1201736 [GRCh38] Chr16:1251735..1251736 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1137C>T (p.Gly379=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000814639] |
Chr16:1200733 [GRCh38] Chr16:1250733 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000817633] |
Chr16:1195028 [GRCh38] Chr16:1245028 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000814829] |
Chr16:1200278 [GRCh38] Chr16:1250278 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495054]|Idiopathic generalized epilepsy [RCV000797257] |
Chr16:1220680 [GRCh38] Chr16:1270680 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002477817]|Idiopathic generalized epilepsy [RCV000797258] |
Chr16:1210381 [GRCh38] Chr16:1260381 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000813745]|Inborn genetic diseases [RCV002363111] |
Chr16:1220176 [GRCh38] Chr16:1270176 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000799637] |
Chr16:1210489 [GRCh38] Chr16:1260489 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000799640] |
Chr16:1212514 [GRCh38] Chr16:1262514 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487796]|Idiopathic generalized epilepsy [RCV000816089] |
Chr16:1201732 [GRCh38] Chr16:1251732 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000816118] |
Chr16:1204328 [GRCh38] Chr16:1254328 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000823694] |
Chr16:1153930 [GRCh38] Chr16:1203930 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507411]|Idiopathic generalized epilepsy [RCV000810742] |
Chr16:1204279 [GRCh38] Chr16:1254279 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000819556] |
Chr16:1200270 [GRCh38] Chr16:1250270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1543C>T (p.His515Tyr) |
single nucleotide variant |
CACNA1H-related condition [RCV003940693]|Idiopathic generalized epilepsy [RCV000891663] |
Chr16:1201993 [GRCh38] Chr16:1251993 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.300-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000797137] |
Chr16:1194969 [GRCh38] Chr16:1244969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478916]|Idiopathic generalized epilepsy [RCV000819828] |
Chr16:1220981 [GRCh38] Chr16:1270981 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4290T>C (p.Ile1430=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000936275] |
Chr16:1211234 [GRCh38] Chr16:1261234 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000807136] |
Chr16:1204121 [GRCh38] Chr16:1254121 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000803527] |
Chr16:1195441 [GRCh38] Chr16:1245441 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000810931] |
Chr16:1204132 [GRCh38] Chr16:1254132 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495157]|Idiopathic generalized epilepsy [RCV000816686] |
Chr16:1201766 [GRCh38] Chr16:1251766 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000819992]|Inborn genetic diseases [RCV002537454]|not provided [RCV001759603] |
Chr16:1202435 [GRCh38] Chr16:1252435 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6504G>A (p.Ala2168=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003768818] |
Chr16:1220436 [GRCh38] Chr16:1270436 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup) |
duplication |
Idiopathic generalized epilepsy [RCV000798709]|not provided [RCV002264982] |
Chr16:1209078..1209079 [GRCh38] Chr16:1259078..1259079 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5463C>T (p.Cys1821=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001462713] |
Chr16:1218227 [GRCh38] Chr16:1268227 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5622G>A (p.Ala1874=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000937589] |
Chr16:1218386 [GRCh38] Chr16:1268386 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000808062] |
Chr16:1210076 [GRCh38] Chr16:1260076 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507373]|Idiopathic generalized epilepsy [RCV000796088] |
Chr16:1212088 [GRCh38] Chr16:1262088 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.314T>G (p.Val105Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000792584] |
Chr16:1194986 [GRCh38] Chr16:1244986 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000818611]|Inborn genetic diseases [RCV002535479]|not provided [RCV000991765] |
Chr16:1205123 [GRCh38] Chr16:1255123 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000818629] |
Chr16:1202417 [GRCh38] Chr16:1252417 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5245-7T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001436375] |
Chr16:1216925 [GRCh38] Chr16:1266925 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1617C>A (p.Pro539=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001413541] |
Chr16:1202067 [GRCh38] Chr16:1252067 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489465]|Idiopathic generalized epilepsy [RCV001317206]|not provided [RCV000991768] |
Chr16:1153823 [GRCh38] Chr16:1203823 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001322833]|not provided [RCV000991770] |
Chr16:1200444 [GRCh38] Chr16:1250444 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487643]|Idiopathic generalized epilepsy [RCV000792373] |
Chr16:1202233 [GRCh38] Chr16:1252233 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000796065] |
Chr16:1205198 [GRCh38] Chr16:1255198 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001542385]|Idiopathic generalized epilepsy [RCV000813436] |
Chr16:1208076 [GRCh38] Chr16:1258076 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495085]|Idiopathic generalized epilepsy [RCV000803084] |
Chr16:1202089 [GRCh38] Chr16:1252089 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000803201] |
Chr16:1153868 [GRCh38] Chr16:1203868 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000819682] |
Chr16:1195513 [GRCh38] Chr16:1245513 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6049-4A>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000817646] |
Chr16:1219977 [GRCh38] Chr16:1269977 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501135]|Idiopathic generalized epilepsy [RCV000819852] |
Chr16:1195048 [GRCh38] Chr16:1245048 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000816685] |
Chr16:1201910 [GRCh38] Chr16:1251910 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478918]|Idiopathic generalized epilepsy [RCV000820080] |
Chr16:1209234 [GRCh38] Chr16:1259234 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000803743]|Inborn genetic diseases [RCV002534765] |
Chr16:1153954 [GRCh38] Chr16:1203954 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3849C>G (p.Phe1283Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000799791] |
Chr16:1210373 [GRCh38] Chr16:1260373 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000796877]|Inborn genetic diseases [RCV003258973] |
Chr16:1202059 [GRCh38] Chr16:1252059 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000797469] |
Chr16:1202117 [GRCh38] Chr16:1252117 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507394]|Idiopathic generalized epilepsy [RCV000804824] |
Chr16:1220719 [GRCh38] Chr16:1270719 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487633]|Idiopathic generalized epilepsy [RCV000791675] |
Chr16:1207816 [GRCh38] Chr16:1257816 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile) |
single nucleotide variant |
CACNA1H-related condition [RCV003892715]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002477823]|Idiopathic generalized epilepsy [RCV000798026] |
Chr16:1212036 [GRCh38] Chr16:1262036 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000802201]|Inborn genetic diseases [RCV002537143] |
Chr16:1210096 [GRCh38] Chr16:1260096 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000818626] |
Chr16:1154010 [GRCh38] Chr16:1204010 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000798471] |
Chr16:1210646 [GRCh38] Chr16:1260646 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del) |
microsatellite |
Idiopathic generalized epilepsy [RCV000822346] |
Chr16:1215334..1215336 [GRCh38] Chr16:1265334..1265336 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6238T>A (p.Ser2080Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001044329] |
Chr16:1220170 [GRCh38] Chr16:1270170 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6905C>T (p.Pro2302Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000793068] |
Chr16:1220837 [GRCh38] Chr16:1270837 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000795105] |
Chr16:1204349 [GRCh38] Chr16:1254349 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001046181] |
Chr16:1198689 [GRCh38] Chr16:1248689 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6459G>C (p.Gln2153His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000810650] |
Chr16:1220391 [GRCh38] Chr16:1270391 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3358C>T (p.Pro1120Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001065521] |
Chr16:1208216 [GRCh38] Chr16:1258216 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000792344] |
Chr16:1210134 [GRCh38] Chr16:1260134 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5446-9C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001241188]|not provided [RCV000827169] |
Chr16:1218201 [GRCh38] Chr16:1268201 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489464]|Idiopathic generalized epilepsy [RCV001432739]|not provided [RCV000991761] |
Chr16:1202244 [GRCh38] Chr16:1252244 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334114]|Idiopathic generalized epilepsy [RCV000795782]|Inborn genetic diseases [RCV002537008] |
Chr16:1204235 [GRCh38] Chr16:1254235 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003492177]|Idiopathic generalized epilepsy [RCV000814758] |
Chr16:1204247 [GRCh38] Chr16:1254247 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495101]|Idiopathic generalized epilepsy [RCV000806506] |
Chr16:1218984 [GRCh38] Chr16:1268984 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del) |
microsatellite |
Idiopathic generalized epilepsy [RCV000796095] |
Chr16:1209395..1209397 [GRCh38] Chr16:1259395..1259397 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000805270] |
Chr16:1195463 [GRCh38] Chr16:1245463 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3039C>T (p.Ile1013=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001392691] |
Chr16:1207406 [GRCh38] Chr16:1257406 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487665]|Idiopathic generalized epilepsy [RCV000796245] |
Chr16:1204223 [GRCh38] Chr16:1254223 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5811G>A (p.Val1937=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000893105] |
Chr16:1218575 [GRCh38] Chr16:1268575 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000794177] |
Chr16:1218231 [GRCh38] Chr16:1268231 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6677C>T (p.Thr2226Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000799123] |
Chr16:1220609 [GRCh38] Chr16:1270609 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup) |
microsatellite |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501140]|Idiopathic generalized epilepsy [RCV000822254] |
Chr16:1202016..1202017 [GRCh38] Chr16:1252016..1252017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487820]|Idiopathic generalized epilepsy [RCV000819027]|Inborn genetic diseases [RCV003243342] |
Chr16:1210895 [GRCh38] Chr16:1260895 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000819191] |
Chr16:1220593 [GRCh38] Chr16:1270593 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3363+6G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000801705] |
Chr16:1208227 [GRCh38] Chr16:1258227 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1119+6C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487709]|Idiopathic generalized epilepsy [RCV000803492] |
Chr16:1200577 [GRCh38] Chr16:1250577 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6578C>G (p.Ser2193Trp) |
single nucleotide variant |
not provided [RCV003315007] |
Chr16:1220510 [GRCh38] Chr16:1270510 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3903C>T (p.Leu1301=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001399783] |
Chr16:1210427 [GRCh38] Chr16:1260427 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487711]|Idiopathic generalized epilepsy [RCV000803653]|Inborn genetic diseases [RCV002534759] |
Chr16:1215014 [GRCh38] Chr16:1265014 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501483]|Idiopathic generalized epilepsy [RCV000893370]|Inborn genetic diseases [RCV002539411] |
Chr16:1204153 [GRCh38] Chr16:1254153 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1120-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000809785] |
Chr16:1200713 [GRCh38] Chr16:1250713 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001329837]|Idiopathic generalized epilepsy [RCV000797522] |
Chr16:1218562 [GRCh38] Chr16:1268562 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495160]|Idiopathic generalized epilepsy [RCV000817069] |
Chr16:1204079 [GRCh38] Chr16:1254079 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4974C>T (p.Ile1658=) |
single nucleotide variant |
not provided [RCV000916507] |
Chr16:1215016 [GRCh38] Chr16:1265016 [GRCh37] Chr16:16p13.3 |
likely benign |
NC_000016.9:g.(?_624055)_(2115656_?)del |
deletion |
Tuberous sclerosis 2 [RCV000811345] |
Chr16:624055..2115656 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000797798] |
Chr16:1205196 [GRCh38] Chr16:1255196 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2877C>T (p.Ser959=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000898129] |
Chr16:1207088 [GRCh38] Chr16:1257088 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+8C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505491]|Idiopathic generalized epilepsy [RCV001473370] |
Chr16:1209420 [GRCh38] Chr16:1259420 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.954C>G (p.Gly318=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001431928] |
Chr16:1200406 [GRCh38] Chr16:1250406 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487857]|Idiopathic generalized epilepsy [RCV000823811] |
Chr16:1204230 [GRCh38] Chr16:1254230 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3330C>T (p.Ser1110=) |
single nucleotide variant |
CACNA1H-related condition [RCV003905818]|Idiopathic generalized epilepsy [RCV000960432] |
Chr16:1208188 [GRCh38] Chr16:1258188 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6296AGG[1] (p.Glu2100del) |
microsatellite |
Idiopathic generalized epilepsy [RCV000793165] |
Chr16:1220227..1220229 [GRCh38] Chr16:1270227..1270229 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000814444]|not provided [RCV000991762] |
Chr16:1202446 [GRCh38] Chr16:1252446 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481929]|Idiopathic generalized epilepsy [RCV001046905]|Inborn genetic diseases [RCV002553152] |
Chr16:1208076 [GRCh38] Chr16:1258076 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.*10T>A |
single nucleotide variant |
CACNA1H-related condition [RCV003918620]|not provided [RCV000991759] |
Chr16:1221004 [GRCh38] Chr16:1271004 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4320C>T (p.Phe1440=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000976350] |
Chr16:1211264 [GRCh38] Chr16:1261264 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481934]|Idiopathic generalized epilepsy [RCV001047154] |
Chr16:1220075 [GRCh38] Chr16:1270075 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003768762]|Inborn genetic diseases [RCV003169242] |
Chr16:1202134 [GRCh38] Chr16:1252134 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
GRCh37/hg19 16p13.3(chr16:1134638-1295079)x4 |
copy number gain |
not provided [RCV000848315] |
Chr16:1134638..1295079 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479062]|Idiopathic generalized epilepsy [RCV001394936] |
Chr16:1207787 [GRCh38] Chr16:1257787 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2225C>A (p.Pro742His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001065247] |
Chr16:1204232 [GRCh38] Chr16:1254232 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 |
copy number loss |
not provided [RCV000849039] |
Chr16:85880..2053328 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 |
copy number loss |
not provided [RCV000848130] |
Chr16:85880..1468459 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479390]|Idiopathic generalized epilepsy [RCV001065866] |
Chr16:1215305 [GRCh38] Chr16:1265305 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6727G>A (p.Asp2243Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001066064] |
Chr16:1220659 [GRCh38] Chr16:1270659 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2698G>T (p.Ala900Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001231237] |
Chr16:1206198 [GRCh38] Chr16:1256198 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489590]|Idiopathic generalized epilepsy [RCV001045470] |
Chr16:1210374 [GRCh38] Chr16:1260374 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481921]|Idiopathic generalized epilepsy [RCV001045905] |
Chr16:1220255 [GRCh38] Chr16:1270255 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484086]|Idiopathic generalized epilepsy [RCV001202602] |
Chr16:1210620 [GRCh38] Chr16:1260620 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1162715-1236516)x1 |
copy number loss |
not provided [RCV000847049] |
Chr16:1162715..1236516 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe) |
single nucleotide variant |
not provided [RCV000991767] |
Chr16:1218402 [GRCh38] Chr16:1268402 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5479C>T (p.His1827Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001065008] |
Chr16:1218243 [GRCh38] Chr16:1268243 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3697G>C (p.Asp1233His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001242489] |
Chr16:1209365 [GRCh38] Chr16:1259365 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001231151] |
Chr16:1218588 [GRCh38] Chr16:1268588 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480785]|Idiopathic generalized epilepsy [RCV001239117]|Inborn genetic diseases [RCV003353248] |
Chr16:1211168 [GRCh38] Chr16:1261168 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491606]|Idiopathic generalized epilepsy [RCV001202570] |
Chr16:1220604 [GRCh38] Chr16:1270604 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5944C>A (p.Pro1982Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001210486] |
Chr16:1219026 [GRCh38] Chr16:1269026 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6049-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001240072] |
Chr16:1219978 [GRCh38] Chr16:1269978 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5710G>T (p.Glu1904Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001233221] |
Chr16:1218474 [GRCh38] Chr16:1268474 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.601G>A (p.Val201Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001220192] |
Chr16:1195981 [GRCh38] Chr16:1245981 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484094]|Idiopathic generalized epilepsy [RCV001203325]|Inborn genetic diseases [RCV003284040] |
Chr16:1220272 [GRCh38] Chr16:1270272 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001222814] |
Chr16:1220218 [GRCh38] Chr16:1270218 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491625]|Idiopathic generalized epilepsy [RCV001206172] |
Chr16:1201924 [GRCh38] Chr16:1251924 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001858813]|not provided [RCV000995452] |
Chr16:1204184 [GRCh38] Chr16:1254184 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) |
single nucleotide variant |
not provided [RCV000995454] |
Chr16:1204237 [GRCh38] Chr16:1254237 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001518893]|not provided [RCV000995462] |
Chr16:1220658 [GRCh38] Chr16:1270658 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4929+8C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001046901]|not provided [RCV000995459] |
Chr16:1213939 [GRCh38] Chr16:1263939 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4196G>A (p.Arg1399His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001222854] |
Chr16:1210944 [GRCh38] Chr16:1260944 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4777+5C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003918784]|Idiopathic generalized epilepsy [RCV001223030] |
Chr16:1212533 [GRCh38] Chr16:1262533 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.97C>T (p.Pro33Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001220713] |
Chr16:1153834 [GRCh38] Chr16:1203834 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499400]|Idiopathic generalized epilepsy [RCV001241121] |
Chr16:1195034 [GRCh38] Chr16:1245034 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491638]|Idiopathic generalized epilepsy [RCV001209635] |
Chr16:1207101 [GRCh38] Chr16:1257101 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6826C>T (p.Pro2276Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001222932] |
Chr16:1220758 [GRCh38] Chr16:1270758 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1501G>A (p.Gly501Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001209229] |
Chr16:1201951 [GRCh38] Chr16:1251951 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.7043G>A (p.Gly2348Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001217721] |
Chr16:1220975 [GRCh38] Chr16:1270975 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1516C>T (p.Arg506Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001226975] |
Chr16:1201966 [GRCh38] Chr16:1251966 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3982C>T (p.Leu1328Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001226978] |
Chr16:1210595 [GRCh38] Chr16:1260595 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504240]|Idiopathic generalized epilepsy [RCV001206792] |
Chr16:1201891 [GRCh38] Chr16:1251891 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491772]|Idiopathic generalized epilepsy [RCV001238138] |
Chr16:1212057 [GRCh38] Chr16:1262057 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491792]|Idiopathic generalized epilepsy [RCV001240292]|Inborn genetic diseases [RCV002563972] |
Chr16:1220477 [GRCh38] Chr16:1270477 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6613C>T (p.Arg2205Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001243207] |
Chr16:1220545 [GRCh38] Chr16:1270545 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491679]|Idiopathic generalized epilepsy [RCV001218087] |
Chr16:1195474 [GRCh38] Chr16:1245474 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2817C>T (p.Cys939=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001232124] |
Chr16:1207028 [GRCh38] Chr16:1257028 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001207196] |
Chr16:1220020 [GRCh38] Chr16:1270020 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491694]|Idiopathic generalized epilepsy [RCV001221745]|Inborn genetic diseases [RCV003294064] |
Chr16:1218232 [GRCh38] Chr16:1268232 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4930-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001221520] |
Chr16:1214969 [GRCh38] Chr16:1264969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001242806]|not specified [RCV002469361] |
Chr16:1207357 [GRCh38] Chr16:1257357 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4729C>T (p.Arg1577Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001226071] |
Chr16:1212108 [GRCh38] Chr16:1262108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.874T>A (p.Ser292Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001211545] |
Chr16:1200326 [GRCh38] Chr16:1250326 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.48C>T (p.Gly16=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001230473] |
Chr16:1153785 [GRCh38] Chr16:1203785 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484189]|Idiopathic generalized epilepsy [RCV001219256] |
Chr16:1220135 [GRCh38] Chr16:1270135 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6049-7C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001212375] |
Chr16:1219974 [GRCh38] Chr16:1269974 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5906A>G (p.His1969Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001229454] |
Chr16:1218988 [GRCh38] Chr16:1268988 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4377C>T (p.Cys1459=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001229456] |
Chr16:1211507 [GRCh38] Chr16:1261507 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484329]|Idiopathic generalized epilepsy [RCV001242403] |
Chr16:1209212 [GRCh38] Chr16:1259212 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6739A>G (p.Lys2247Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001216724] |
Chr16:1220671 [GRCh38] Chr16:1270671 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480724]|Idiopathic generalized epilepsy [RCV001219513] |
Chr16:1207300 [GRCh38] Chr16:1257300 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6300G>T (p.Glu2100Asp) |
single nucleotide variant |
not provided [RCV003313438] |
Chr16:1220232 [GRCh38] Chr16:1270232 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6548G>A (p.Arg2183Lys) |
single nucleotide variant |
not provided [RCV003313524] |
Chr16:1220480 [GRCh38] Chr16:1270480 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1213-10C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484372]|Idiopathic generalized epilepsy [RCV001245945] |
Chr16:1201653 [GRCh38] Chr16:1251653 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001201876]|Inborn genetic diseases [RCV002365903] |
Chr16:1220406 [GRCh38] Chr16:1270406 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.936C>T (p.Arg312=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001212537] |
Chr16:1200388 [GRCh38] Chr16:1250388 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.262C>T (p.Arg88Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003106492] |
Chr16:1153999 [GRCh38] Chr16:1203999 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2603+35C>T |
single nucleotide variant |
not provided [RCV001576125] |
Chr16:1205300 [GRCh38] Chr16:1255300 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5173+37G>A |
single nucleotide variant |
not provided [RCV001566067] |
Chr16:1215412 [GRCh38] Chr16:1265412 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3064-72G>A |
single nucleotide variant |
not provided [RCV001577539] |
Chr16:1207698 [GRCh38] Chr16:1257698 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-50C>T |
single nucleotide variant |
not provided [RCV001549329] |
Chr16:1200206 [GRCh38] Chr16:1250206 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1220C>T (p.Ser407Phe) |
single nucleotide variant |
not provided [RCV001580811] |
Chr16:1201670 [GRCh38] Chr16:1251670 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1934_1935delinsT (p.Gly645fs) |
indel |
not provided [RCV003317989] |
Chr16:1202384..1202385 [GRCh38] Chr16:1252384..1252385 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3598G>A (p.Asp1200Asn) |
single nucleotide variant |
not provided [RCV003318222] |
Chr16:1209266 [GRCh38] Chr16:1259266 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4350+35G>A |
single nucleotide variant |
not provided [RCV001638636] |
Chr16:1211329 [GRCh38] Chr16:1261329 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001542361] |
Chr16:1213791 [GRCh38] Chr16:1263791 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3064-39G>A |
single nucleotide variant |
not provided [RCV001666330] |
Chr16:1207731 [GRCh38] Chr16:1257731 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2452-153_2452-70del |
deletion |
not provided [RCV001648087] |
Chr16:1204947..1205030 [GRCh38] Chr16:1254947..1255030 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.804-160C>G |
single nucleotide variant |
not provided [RCV001598450] |
Chr16:1200096 [GRCh38] Chr16:1250096 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4929+18G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002070388]|not provided [RCV001561188] |
Chr16:1213949 [GRCh38] Chr16:1263949 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5244+298G>A |
single nucleotide variant |
not provided [RCV001636401] |
Chr16:1215891 [GRCh38] Chr16:1265891 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2604-88C>A |
single nucleotide variant |
not provided [RCV001668842] |
Chr16:1206016 [GRCh38] Chr16:1256016 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2452-323C>T |
single nucleotide variant |
not provided [RCV001652089] |
Chr16:1204791 [GRCh38] Chr16:1254791 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3846-24T>C |
single nucleotide variant |
not provided [RCV001615765] |
Chr16:1210346 [GRCh38] Chr16:1260346 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2790-99C>G |
single nucleotide variant |
not provided [RCV001613802] |
Chr16:1206902 [GRCh38] Chr16:1256902 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001810101]|not provided [RCV001584638] |
Chr16:1204070 [GRCh38] Chr16:1254070 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.859A>G (p.Asn287Asp) |
single nucleotide variant |
not provided [RCV001557078] |
Chr16:1200311 [GRCh38] Chr16:1250311 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5244+28G>A |
single nucleotide variant |
not provided [RCV001676644] |
Chr16:1215621 [GRCh38] Chr16:1265621 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.643+188G>A |
single nucleotide variant |
not provided [RCV001649632] |
Chr16:1196211 [GRCh38] Chr16:1246211 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4223+53C>T |
single nucleotide variant |
not provided [RCV001718097] |
Chr16:1211024 [GRCh38] Chr16:1261024 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.644-244C>T |
single nucleotide variant |
not provided [RCV001650422] |
Chr16:1198371 [GRCh38] Chr16:1248371 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5887+107A>G |
single nucleotide variant |
not provided [RCV001614334] |
Chr16:1218758 [GRCh38] Chr16:1268758 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6048+17del |
deletion |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495978]|Idiopathic generalized epilepsy [RCV002073015]|not provided [RCV001656771] |
Chr16:1219146 [GRCh38] Chr16:1269146 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.*101C>T |
single nucleotide variant |
not provided [RCV001673601] |
Chr16:1221095 [GRCh38] Chr16:1271095 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2003-103G>T |
single nucleotide variant |
not provided [RCV001650803] |
Chr16:1203907 [GRCh38] Chr16:1253907 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4038+41C>T |
single nucleotide variant |
not provided [RCV001695143] |
Chr16:1210692 [GRCh38] Chr16:1260692 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2790-162T>C |
single nucleotide variant |
not provided [RCV001677335] |
Chr16:1206839 [GRCh38] Chr16:1256839 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5244+261C>T |
single nucleotide variant |
not provided [RCV001635628] |
Chr16:1215854 [GRCh38] Chr16:1265854 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.52C>T (p.Pro18Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003242221] |
Chr16:1153789 [GRCh38] Chr16:1203789 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505327]|Idiopathic generalized epilepsy [RCV000908312] |
Chr16:1200457 [GRCh38] Chr16:1250457 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6144G>A (p.Pro2048=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000886489]|Inborn genetic diseases [RCV002354719] |
Chr16:1220076 [GRCh38] Chr16:1270076 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505429]|Idiopathic generalized epilepsy [RCV000955088] |
Chr16:1211192 [GRCh38] Chr16:1261192 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=) |
single nucleotide variant |
CACNA1H-related condition [RCV003903271]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002479102]|Idiopathic generalized epilepsy [RCV000955089] |
Chr16:1218572 [GRCh38] Chr16:1268572 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502882]|Idiopathic generalized epilepsy [RCV000940949] |
Chr16:1206242 [GRCh38] Chr16:1256242 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6345C>A (p.Ala2115=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001444953] |
Chr16:1220277 [GRCh38] Chr16:1270277 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1224C>T (p.Phe408=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000955113] |
Chr16:1201674 [GRCh38] Chr16:1251674 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001081331]|not provided [RCV000955125] |
Chr16:1208141 [GRCh38] Chr16:1258141 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5208C>T (p.Arg1736=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000902929]|not provided [RCV003392685] |
Chr16:1215557 [GRCh38] Chr16:1265557 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495426]|Idiopathic generalized epilepsy [RCV002065631] |
Chr16:1198677 [GRCh38] Chr16:1248677 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5892C>T (p.Ser1964=) |
single nucleotide variant |
CACNA1H-related condition [RCV003978264]|Idiopathic generalized epilepsy [RCV000954346] |
Chr16:1218974 [GRCh38] Chr16:1268974 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502955]|Idiopathic generalized epilepsy [RCV001085643]|not provided [RCV000954356] |
Chr16:1200370 [GRCh38] Chr16:1250370 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=) |
single nucleotide variant |
CACNA1H-related condition [RCV003913007]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002479047]|Idiopathic generalized epilepsy [RCV001498874] |
Chr16:1209211 [GRCh38] Chr16:1259211 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6810G>A (p.Pro2270=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000878640] |
Chr16:1220742 [GRCh38] Chr16:1270742 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.545+10G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001465397] |
Chr16:1195575 [GRCh38] Chr16:1245575 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6909G>A (p.Leu2303=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000919153] |
Chr16:1220841 [GRCh38] Chr16:1270841 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495491]|Idiopathic generalized epilepsy [RCV000909117] |
Chr16:1205203 [GRCh38] Chr16:1255203 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5742G>C (p.Leu1914=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002066461] |
Chr16:1218506 [GRCh38] Chr16:1268506 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3858C>T (p.Ser1286=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000958825] |
Chr16:1210382 [GRCh38] Chr16:1260382 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.644-7C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502843]|Idiopathic generalized epilepsy [RCV002542243] |
Chr16:1198608 [GRCh38] Chr16:1248608 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.237C>G (p.Val79=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000892194] |
Chr16:1153974 [GRCh38] Chr16:1203974 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2307G>A (p.Pro769=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000952364] |
Chr16:1204314 [GRCh38] Chr16:1254314 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000952408]|Inborn genetic diseases [RCV003243381] |
Chr16:1207797 [GRCh38] Chr16:1257797 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2003-6C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001836923]|Idiopathic generalized epilepsy [RCV001461356] |
Chr16:1204004 [GRCh38] Chr16:1254004 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4224-9C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001431975] |
Chr16:1211159 [GRCh38] Chr16:1261159 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3707G>A (p.Arg1236His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001498388] |
Chr16:1209375 [GRCh38] Chr16:1259375 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5244+10G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000952081] |
Chr16:1215603 [GRCh38] Chr16:1265603 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3978C>T (p.Val1326=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000980264] |
Chr16:1210591 [GRCh38] Chr16:1260591 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6C>T (p.Thr2=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000945635] |
Chr16:1153743 [GRCh38] Chr16:1203743 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6339C>A (p.Pro2113=) |
single nucleotide variant |
not provided [RCV000929840] |
Chr16:1220271 [GRCh38] Chr16:1270271 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501433]|Idiopathic generalized epilepsy [RCV000887496] |
Chr16:1200367 [GRCh38] Chr16:1250367 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2811C>T (p.Phe937=) |
single nucleotide variant |
CACNA1H-related condition [RCV003910508]|Idiopathic generalized epilepsy [RCV001458221] |
Chr16:1207022 [GRCh38] Chr16:1257022 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.738C>T (p.Ile246=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001393612] |
Chr16:1198709 [GRCh38] Chr16:1248709 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502834]|Idiopathic generalized epilepsy [RCV000928452] |
Chr16:1220550 [GRCh38] Chr16:1270550 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6916C>G (p.Pro2306Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000959501] |
Chr16:1220848 [GRCh38] Chr16:1270848 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479096]|Idiopathic generalized epilepsy [RCV000951766] |
Chr16:1205173 [GRCh38] Chr16:1255173 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3845+8G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501434]|Idiopathic generalized epilepsy [RCV001513406] |
Chr16:1210143 [GRCh38] Chr16:1260143 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5664C>G (p.Pro1888=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000933292] |
Chr16:1218428 [GRCh38] Chr16:1268428 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000951819]|Inborn genetic diseases [RCV002547225] |
Chr16:1220653 [GRCh38] Chr16:1270653 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3042C>T (p.Leu1014=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003768868] |
Chr16:1207409 [GRCh38] Chr16:1257409 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2244G>A (p.Ala748=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000953956]|Inborn genetic diseases [RCV002427386] |
Chr16:1204251 [GRCh38] Chr16:1254251 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3613C>A (p.Arg1205=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000978986] |
Chr16:1209281 [GRCh38] Chr16:1259281 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002502839]|Idiopathic generalized epilepsy [RCV001439964] |
Chr16:1219116 [GRCh38] Chr16:1269116 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2003-4G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000954021] |
Chr16:1204006 [GRCh38] Chr16:1254006 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503023]|Hyperaldosteronism [RCV001262322]|Idiopathic generalized epilepsy [RCV000964782]|Inborn genetic diseases [RCV002547292] |
Chr16:1212093 [GRCh38] Chr16:1262093 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1053C>T (p.Asp351=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001467969] |
Chr16:1200505 [GRCh38] Chr16:1250505 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+6G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000951899] |
Chr16:1212534 [GRCh38] Chr16:1262534 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3960C>T (p.Pro1320=) |
single nucleotide variant |
not provided [RCV000943341] |
Chr16:1210484 [GRCh38] Chr16:1260484 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501497]|Idiopathic generalized epilepsy [RCV000895307]|Inborn genetic diseases [RCV002540133] |
Chr16:1204276 [GRCh38] Chr16:1254276 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.393G>A (p.Glu131=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001422490] |
Chr16:1195065 [GRCh38] Chr16:1245065 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3498G>A (p.Leu1166=) |
single nucleotide variant |
not provided [RCV000929319] |
Chr16:1209166 [GRCh38] Chr16:1259166 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001504113]|not provided [RCV000951205] |
Chr16:1212080 [GRCh38] Chr16:1262080 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3228C>T (p.Leu1076=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000979452] |
Chr16:1208086 [GRCh38] Chr16:1258086 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1242C>T (p.Cys414=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001505877] |
Chr16:1201692 [GRCh38] Chr16:1251692 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6612G>A (p.Ala2204=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000909621] |
Chr16:1220544 [GRCh38] Chr16:1270544 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001084828]|not provided [RCV000904628] |
Chr16:1202105 [GRCh38] Chr16:1252105 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-4C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001392242] |
Chr16:1200712 [GRCh38] Chr16:1250712 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.444G>T (p.Ala148=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001475544] |
Chr16:1195464 [GRCh38] Chr16:1245464 [GRCh37] Chr16:16p13.3 |
likely benign |
NC_000016.9:g.(?_624055)_(2550979_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001033790] |
Chr16:624055..2550979 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479302]|Idiopathic generalized epilepsy [RCV001049275] |
Chr16:1220458 [GRCh38] Chr16:1270458 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2616C>G (p.Ile872Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001235632]|Inborn genetic diseases [RCV002563832] |
Chr16:1206116 [GRCh38] Chr16:1256116 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4476+6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001238807] |
Chr16:1211612 [GRCh38] Chr16:1261612 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504258]|Idiopathic generalized epilepsy [RCV001214317] |
Chr16:1201765 [GRCh38] Chr16:1251765 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001218851]|Inborn genetic diseases [RCV003284069] |
Chr16:1218561 [GRCh38] Chr16:1268561 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5445+4C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001222385] |
Chr16:1218044 [GRCh38] Chr16:1268044 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6248C>T (p.Pro2083Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001035613] |
Chr16:1220180 [GRCh38] Chr16:1270180 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3916C>T (p.Leu1306Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001219083]|Inborn genetic diseases [RCV002562472] |
Chr16:1210440 [GRCh38] Chr16:1260440 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6200T>C (p.Val2067Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001236107] |
Chr16:1220132 [GRCh38] Chr16:1270132 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3995A>G (p.Asn1332Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001207847] |
Chr16:1210608 [GRCh38] Chr16:1260608 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001239280] |
Chr16:1204427 [GRCh38] Chr16:1254427 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2242G>A (p.Ala748Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001239286] |
Chr16:1204249 [GRCh38] Chr16:1254249 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.433G>A (p.Ala145Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001236305] |
Chr16:1195453 [GRCh38] Chr16:1245453 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497759]|Idiopathic generalized epilepsy [RCV001222902] |
Chr16:1220741 [GRCh38] Chr16:1270741 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3154+5G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484269]|Idiopathic generalized epilepsy [RCV001232099] |
Chr16:1207865 [GRCh38] Chr16:1257865 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5445+5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001248397] |
Chr16:1218045 [GRCh38] Chr16:1268045 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491825]|Idiopathic generalized epilepsy [RCV001245306]|Inborn genetic diseases [RCV003365287]|not provided [RCV001548338] |
Chr16:1220749 [GRCh38] Chr16:1270749 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499418]|Idiopathic generalized epilepsy [RCV001245429] |
Chr16:1220161 [GRCh38] Chr16:1270161 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.238T>G (p.Phe80Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001236928] |
Chr16:1153975 [GRCh38] Chr16:1203975 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV003387982]|Idiopathic generalized epilepsy [RCV001245347] |
Chr16:1213851 [GRCh38] Chr16:1263851 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.868A>G (p.Ile290Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001037165] |
Chr16:1200320 [GRCh38] Chr16:1250320 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484351]|Idiopathic generalized epilepsy [RCV001243879] |
Chr16:1204397 [GRCh38] Chr16:1254397 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497787]|Idiopathic generalized epilepsy [RCV001231254] |
Chr16:1212094 [GRCh38] Chr16:1262094 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001213948] |
Chr16:1220990 [GRCh38] Chr16:1270990 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491636]|Idiopathic generalized epilepsy [RCV001209183] |
Chr16:1218628 [GRCh38] Chr16:1268628 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480740]|Idiopathic generalized epilepsy [RCV001224269] |
Chr16:1208169 [GRCh38] Chr16:1258169 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4733T>G (p.Leu1578Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001206082] |
Chr16:1212112 [GRCh38] Chr16:1262112 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3593C>T (p.Ser1198Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001234593] |
Chr16:1209261 [GRCh38] Chr16:1259261 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001221132]|Inborn genetic diseases [RCV003363180] |
Chr16:1219120 [GRCh38] Chr16:1269120 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4930-3C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001224721] |
Chr16:1214969 [GRCh38] Chr16:1264969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.403A>T (p.Ile135Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001206882] |
Chr16:1195075 [GRCh38] Chr16:1245075 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_624055)_(2148005_?)del |
deletion |
Tuberous sclerosis 2 [RCV001033183] |
Chr16:624055..2148005 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.2102C>T (p.Pro701Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001207021] |
Chr16:1204109 [GRCh38] Chr16:1254109 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2741A>G (p.Asn914Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001235288] |
Chr16:1206241 [GRCh38] Chr16:1256241 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491807]|Idiopathic generalized epilepsy [RCV001241779] |
Chr16:1204313 [GRCh38] Chr16:1254313 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.784C>T (p.Leu262=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001427020] |
Chr16:1198755 [GRCh38] Chr16:1248755 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-4G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479054]|Idiopathic generalized epilepsy [RCV000911925] |
Chr16:1213776 [GRCh38] Chr16:1263776 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr) |
single nucleotide variant |
CACNA1H-related condition [RCV003940683]|not provided [RCV000891120]|not specified [RCV003321761] |
Chr16:1220350 [GRCh38] Chr16:1270350 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3900C>T (p.Val1300=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002065566] |
Chr16:1210424 [GRCh38] Chr16:1260424 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5364C>T (p.His1788=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001501802] |
Chr16:1217959 [GRCh38] Chr16:1267959 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6120T>C (p.Pro2040=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000934564] |
Chr16:1220052 [GRCh38] Chr16:1270052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3579G>T (p.Leu1193=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001488034] |
Chr16:1209247 [GRCh38] Chr16:1259247 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5904G>T (p.Val1968=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001452506] |
Chr16:1218986 [GRCh38] Chr16:1268986 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4480C>T (p.Leu1494=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001405505] |
Chr16:1211719 [GRCh38] Chr16:1261719 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6282G>A (p.Ser2094=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000934921] |
Chr16:1220214 [GRCh38] Chr16:1270214 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1476C>T (p.Pro492=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000911581] |
Chr16:1201926 [GRCh38] Chr16:1251926 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5296C>T (p.Leu1766=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000934996] |
Chr16:1216983 [GRCh38] Chr16:1266983 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1428G>A (p.Leu476=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001438601] |
Chr16:1201878 [GRCh38] Chr16:1251878 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4779G>A (p.Glu1593=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000911582] |
Chr16:1213781 [GRCh38] Chr16:1263781 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2490C>T (p.Ile830=) |
single nucleotide variant |
CACNA1H-related condition [RCV003960506]|Idiopathic generalized epilepsy [RCV002066136] |
Chr16:1205152 [GRCh38] Chr16:1255152 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6426C>T (p.Gly2142=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000935318] |
Chr16:1220358 [GRCh38] Chr16:1270358 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1452C>T (p.Ser484=) |
single nucleotide variant |
not provided [RCV000934329] |
Chr16:1201902 [GRCh38] Chr16:1251902 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) |
single nucleotide variant |
CACNA1H-related condition [RCV003957948]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002487953]|Idiopathic generalized epilepsy [RCV000890949]|not provided [RCV003392680] |
Chr16:1220154 [GRCh38] Chr16:1270154 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3252C>G (p.Pro1084=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001472813] |
Chr16:1208110 [GRCh38] Chr16:1258110 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-4C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000890570] |
Chr16:1210366 [GRCh38] Chr16:1260366 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5187G>A (p.Leu1729=) |
single nucleotide variant |
not provided [RCV000911819] |
Chr16:1215536 [GRCh38] Chr16:1265536 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1179C>T (p.Phe393=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV000957355] |
Chr16:1200775 [GRCh38] Chr16:1250775 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5254C>T (p.Leu1752=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001498046] |
Chr16:1216941 [GRCh38] Chr16:1266941 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002487951]|Idiopathic generalized epilepsy [RCV000889419] |
Chr16:1220051 [GRCh38] Chr16:1270051 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1755G>A (p.Pro585=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001459590] |
Chr16:1202205 [GRCh38] Chr16:1252205 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.657G>C (p.Leu219=) |
single nucleotide variant |
not provided [RCV000912017] |
Chr16:1198628 [GRCh38] Chr16:1248628 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3630G>A (p.Pro1210=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002065829] |
Chr16:1209298 [GRCh38] Chr16:1259298 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6049-72G>A |
single nucleotide variant |
not provided [RCV001540605] |
Chr16:1219909 [GRCh38] Chr16:1269909 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5245-129_5245-128insT |
insertion |
not provided [RCV001539554] |
Chr16:1216803..1216804 [GRCh38] Chr16:1266803..1266804 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.804-283del |
deletion |
not provided [RCV001676841] |
Chr16:1199973 [GRCh38] Chr16:1249973 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.803+116C>T |
single nucleotide variant |
not provided [RCV001677715] |
Chr16:1198890 [GRCh38] Chr16:1248890 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488086]|Idiopathic generalized epilepsy [RCV001216106]|not provided [RCV000991760] |
Chr16:1201759 [GRCh38] Chr16:1251759 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5245-245G>A |
single nucleotide variant |
not provided [RCV001656087] |
Chr16:1216687 [GRCh38] Chr16:1266687 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4224-82C>A |
single nucleotide variant |
not provided [RCV001689241] |
Chr16:1211086 [GRCh38] Chr16:1261086 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2452-324_2452-323insTAGAT |
insertion |
not provided [RCV001555278] |
Chr16:1204790..1204791 [GRCh38] Chr16:1254790..1254791 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+182A>G |
single nucleotide variant |
not provided [RCV001561026] |
Chr16:1212710 [GRCh38] Chr16:1262710 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4707G>C (p.Glu1569Asp) |
single nucleotide variant |
not provided [RCV002464942] |
Chr16:1212086 [GRCh38] Chr16:1262086 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6851del (p.Gly2284fs) |
deletion |
not provided [RCV002464699] |
Chr16:1220782 [GRCh38] Chr16:1270782 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6950C>A (p.Pro2317His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001066034] |
Chr16:1220882 [GRCh38] Chr16:1270882 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3745-289G>A |
single nucleotide variant |
not provided [RCV001608210] |
Chr16:1209746 [GRCh38] Chr16:1259746 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2451+119T>C |
single nucleotide variant |
not provided [RCV001717267] |
Chr16:1204577 [GRCh38] Chr16:1254577 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2002+147C>T |
single nucleotide variant |
not provided [RCV001615653] |
Chr16:1202599 [GRCh38] Chr16:1252599 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.299+20_299+40del |
deletion |
Idiopathic generalized epilepsy [RCV002070474]|not provided [RCV001608265] |
Chr16:1154052..1154072 [GRCh38] Chr16:1204052..1204072 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3846-20A>C |
single nucleotide variant |
not provided [RCV001671711] |
Chr16:1210350 [GRCh38] Chr16:1260350 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.299+80A>G |
single nucleotide variant |
not provided [RCV001639660] |
Chr16:1154116 [GRCh38] Chr16:1204116 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3064-136C>T |
single nucleotide variant |
not provided [RCV001717264] |
Chr16:1207634 [GRCh38] Chr16:1257634 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3969+35C>T |
single nucleotide variant |
not provided [RCV001527988] |
Chr16:1210528 [GRCh38] Chr16:1260528 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4224-49G>A |
single nucleotide variant |
not provided [RCV001655185] |
Chr16:1211119 [GRCh38] Chr16:1261119 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.411+40G>A |
single nucleotide variant |
not provided [RCV001539825] |
Chr16:1195123 [GRCh38] Chr16:1245123 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2789+26G>A |
single nucleotide variant |
not provided [RCV001549527] |
Chr16:1206315 [GRCh38] Chr16:1256315 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-73T>C |
single nucleotide variant |
not provided [RCV001639560] |
Chr16:1207940 [GRCh38] Chr16:1257940 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.643+232A>C |
single nucleotide variant |
not provided [RCV001598085] |
Chr16:1196255 [GRCh38] Chr16:1246255 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5323+234A>G |
single nucleotide variant |
not provided [RCV001590118] |
Chr16:1217244 [GRCh38] Chr16:1267244 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2604-219A>G |
single nucleotide variant |
not provided [RCV001717266] |
Chr16:1205885 [GRCh38] Chr16:1255885 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2452-321_2452-320insTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCTAG |
insertion |
not provided [RCV001596318] |
Chr16:1204791..1204792 [GRCh38] Chr16:1254791..1254792 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3363+91G>A |
single nucleotide variant |
not provided [RCV001719278] |
Chr16:1208312 [GRCh38] Chr16:1258312 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5324-263C>G |
single nucleotide variant |
not provided [RCV001719339] |
Chr16:1217656 [GRCh38] Chr16:1267656 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4778-270G>A |
single nucleotide variant |
not provided [RCV001719349] |
Chr16:1213510 [GRCh38] Chr16:1263510 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2603+280T>C |
single nucleotide variant |
not provided [RCV001719358] |
Chr16:1205545 [GRCh38] Chr16:1255545 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6048+162T>C |
single nucleotide variant |
not provided [RCV001677670] |
Chr16:1219292 [GRCh38] Chr16:1269292 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6048+13G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002073177]|not provided [RCV001670363] |
Chr16:1219143 [GRCh38] Chr16:1269143 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3846-32G>C |
single nucleotide variant |
not provided [RCV001643298] |
Chr16:1210338 [GRCh38] Chr16:1260338 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2604-19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002072926]|not provided [RCV001617675] |
Chr16:1206085 [GRCh38] Chr16:1256085 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6048+292T>C |
single nucleotide variant |
not provided [RCV001676929] |
Chr16:1219422 [GRCh38] Chr16:1269422 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2452-281C>T |
single nucleotide variant |
not provided [RCV001588202] |
Chr16:1204833 [GRCh38] Chr16:1254833 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4476+30G>T |
single nucleotide variant |
not provided [RCV001620209] |
Chr16:1211636 [GRCh38] Chr16:1261636 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6049-189_6049-188del |
microsatellite |
not provided [RCV001613748] |
Chr16:1219790..1219791 [GRCh38] Chr16:1269790..1269791 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.644-88C>T |
single nucleotide variant |
not provided [RCV001620339] |
Chr16:1198527 [GRCh38] Chr16:1248527 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.412-139G>A |
single nucleotide variant |
not provided [RCV001684275] |
Chr16:1195293 [GRCh38] Chr16:1245293 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.644-241G>C |
single nucleotide variant |
not provided [RCV001620402] |
Chr16:1198374 [GRCh38] Chr16:1248374 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.803+279C>T |
single nucleotide variant |
not provided [RCV001592395] |
Chr16:1199053 [GRCh38] Chr16:1249053 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2002+285G>C |
single nucleotide variant |
not provided [RCV001638431] |
Chr16:1202737 [GRCh38] Chr16:1252737 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5245-203A>G |
single nucleotide variant |
not provided [RCV001676719] |
Chr16:1216729 [GRCh38] Chr16:1266729 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3745-308G>A |
single nucleotide variant |
not provided [RCV001674873] |
Chr16:1209727 [GRCh38] Chr16:1259727 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4930-270C>T |
single nucleotide variant |
not provided [RCV001720433] |
Chr16:1214702 [GRCh38] Chr16:1264702 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2405C>G (p.Ala802Gly) |
single nucleotide variant |
not provided [RCV001596614] |
Chr16:1204412 [GRCh38] Chr16:1254412 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2687G>A (p.Arg896His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001035158] |
Chr16:1206187 [GRCh38] Chr16:1256187 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.645C>T (p.Ser215=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001047071] |
Chr16:1198616 [GRCh38] Chr16:1248616 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001069122] |
Chr16:1205246 [GRCh38] Chr16:1255246 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3445G>A (p.Gly1149Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001046219] |
Chr16:1209113 [GRCh38] Chr16:1259113 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481927]|Idiopathic generalized epilepsy [RCV001046854] |
Chr16:1207036 [GRCh38] Chr16:1257036 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6292G>T (p.Asp2098Tyr) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV001682632] |
Chr16:1220224 [GRCh38] Chr16:1270224 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6048+53A>G |
single nucleotide variant |
not provided [RCV001683808] |
Chr16:1219183 [GRCh38] Chr16:1269183 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3846-27A>C |
single nucleotide variant |
not provided [RCV001616710] |
Chr16:1210343 [GRCh38] Chr16:1260343 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1] |
microsatellite |
not provided [RCV001694234] |
Chr16:1153322..1153355 [GRCh38] Chr16:1203322..1203355 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3846-16G>C |
single nucleotide variant |
not provided [RCV001652872] |
Chr16:1210354 [GRCh38] Chr16:1260354 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5888-141G>A |
single nucleotide variant |
not provided [RCV001684115] |
Chr16:1218829 [GRCh38] Chr16:1268829 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2603+5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001069154] |
Chr16:1205270 [GRCh38] Chr16:1255270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.*195G>A |
single nucleotide variant |
not provided [RCV001714665] |
Chr16:1221189 [GRCh38] Chr16:1271189 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.412-71C>T |
single nucleotide variant |
not provided [RCV001651435] |
Chr16:1195361 [GRCh38] Chr16:1245361 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481954]|Idiopathic generalized epilepsy [RCV001049646] |
Chr16:1202362 [GRCh38] Chr16:1252362 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001035618]|not provided [RCV001759723] |
Chr16:1220510 [GRCh38] Chr16:1270510 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2452-84A>G |
single nucleotide variant |
not provided [RCV001667920] |
Chr16:1205030 [GRCh38] Chr16:1255030 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3117G>A (p.Glu1039=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001035878] |
Chr16:1207823 [GRCh38] Chr16:1257823 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6001C>T (p.Arg2001Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001069722] |
Chr16:1219083 [GRCh38] Chr16:1269083 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3744+44G>C |
single nucleotide variant |
not provided [RCV001667515] |
Chr16:1209456 [GRCh38] Chr16:1259456 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.803+178A>C |
single nucleotide variant |
not provided [RCV001648275] |
Chr16:1198952 [GRCh38] Chr16:1248952 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001294183]|Idiopathic generalized epilepsy [RCV001048145] |
Chr16:1220897 [GRCh38] Chr16:1270897 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2603+125C>T |
single nucleotide variant |
not provided [RCV001681341] |
Chr16:1205390 [GRCh38] Chr16:1255390 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6048+182C>T |
single nucleotide variant |
not provided [RCV001642078] |
Chr16:1219312 [GRCh38] Chr16:1269312 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002073100]|not specified [RCV001663641] |
Chr16:1202112 [GRCh38] Chr16:1252112 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs) |
deletion |
not provided [RCV001663642] |
Chr16:1202203 [GRCh38] Chr16:1252203 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2604-272C>T |
single nucleotide variant |
not provided [RCV001672135] |
Chr16:1205832 [GRCh38] Chr16:1255832 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4759+172C>A |
single nucleotide variant |
not provided [RCV001650609] |
Chr16:1212310 [GRCh38] Chr16:1262310 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480427]|Idiopathic generalized epilepsy [RCV001067616] |
Chr16:1220923 [GRCh38] Chr16:1270923 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.727A>G (p.Ile243Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001208241] |
Chr16:1198698 [GRCh38] Chr16:1248698 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1432C>T (p.Leu478Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001049015] |
Chr16:1201882 [GRCh38] Chr16:1251882 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479265]|Idiopathic generalized epilepsy [RCV001041518] |
Chr16:1220119 [GRCh38] Chr16:1270119 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2451+3G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001056024] |
Chr16:1204461 [GRCh38] Chr16:1254461 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001056038]|Inborn genetic diseases [RCV002553805] |
Chr16:1220624 [GRCh38] Chr16:1270624 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001203593]|not provided [RCV002305573] |
Chr16:1220312 [GRCh38] Chr16:1270312 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1991_1992delinsCT (p.Val664Ala) |
indel |
Idiopathic generalized epilepsy [RCV001235660] |
Chr16:1202441..1202442 [GRCh38] Chr16:1252441..1252442 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2452-5T>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001217238] |
Chr16:1205109 [GRCh38] Chr16:1255109 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4804G>A (p.Asp1602Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001201541] |
Chr16:1213806 [GRCh38] Chr16:1263806 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4038+6G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001208771] |
Chr16:1210657 [GRCh38] Chr16:1260657 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del) |
microsatellite |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484101]|Idiopathic generalized epilepsy [RCV001204039] |
Chr16:1153973..1153975 [GRCh38] Chr16:1203973..1203975 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497737]|Idiopathic generalized epilepsy [RCV001216230] |
Chr16:1209175 [GRCh38] Chr16:1259175 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.713T>G (p.Phe238Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001060787] |
Chr16:1198684 [GRCh38] Chr16:1248684 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4976T>A (p.Val1659Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001060985] |
Chr16:1215018 [GRCh38] Chr16:1265018 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482053]|Idiopathic generalized epilepsy [RCV001060986]|Inborn genetic diseases [RCV002553899] |
Chr16:1220702 [GRCh38] Chr16:1270702 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001057218]|Inborn genetic diseases [RCV002553824] |
Chr16:1208039 [GRCh38] Chr16:1258039 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481975]|Idiopathic generalized epilepsy [RCV001053151] |
Chr16:1208036 [GRCh38] Chr16:1258036 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001057729]|not provided [RCV001288107]|not specified [RCV002509602] |
Chr16:1212115 [GRCh38] Chr16:1262115 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6103C>G (p.Leu2035Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001208720] |
Chr16:1220035 [GRCh38] Chr16:1270035 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504246]|Idiopathic generalized epilepsy [RCV001208736] |
Chr16:1220317 [GRCh38] Chr16:1270317 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1696C>T (p.Pro566Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001058012] |
Chr16:1202146 [GRCh38] Chr16:1252146 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5977G>A (p.Glu1993Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001233049] |
Chr16:1219059 [GRCh38] Chr16:1269059 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3205C>T (p.Arg1069Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001204800] |
Chr16:1208063 [GRCh38] Chr16:1258063 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504229]|Idiopathic generalized epilepsy [RCV001202323] |
Chr16:1200380 [GRCh38] Chr16:1250380 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1067A>G (p.Asn356Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001207816] |
Chr16:1200519 [GRCh38] Chr16:1250519 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3904G>A (p.Val1302Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001037340] |
Chr16:1210428 [GRCh38] Chr16:1260428 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6044G>A (p.Arg2015Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001215078] |
Chr16:1219126 [GRCh38] Chr16:1269126 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1821G>T (p.Gly607=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001218033] |
Chr16:1202271 [GRCh38] Chr16:1252271 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484123]|Idiopathic generalized epilepsy [RCV001207962]|Inborn genetic diseases [RCV002561667] |
Chr16:1209116 [GRCh38] Chr16:1259116 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4927A>C (p.Lys1643Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001207974] |
Chr16:1213929 [GRCh38] Chr16:1263929 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479322]|Idiopathic generalized epilepsy [RCV001052079] |
Chr16:1208057 [GRCh38] Chr16:1258057 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1747G>C (p.Glu583Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001216396] |
Chr16:1202197 [GRCh38] Chr16:1252197 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6964C>T (p.Arg2322Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001204485] |
Chr16:1220896 [GRCh38] Chr16:1270896 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484287]|Idiopathic generalized epilepsy [RCV001235299]|Inborn genetic diseases [RCV002563251] |
Chr16:1209251 [GRCh38] Chr16:1259251 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497747]|Idiopathic generalized epilepsy [RCV001218418] |
Chr16:1216947 [GRCh38] Chr16:1266947 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2584G>A (p.Gly862Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001059301] |
Chr16:1205246 [GRCh38] Chr16:1255246 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001205591] |
Chr16:1220957 [GRCh38] Chr16:1270957 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1203718)_(2185710_?)del |
deletion |
Tuberous sclerosis 2 [RCV001033886] |
Chr16:1203718..2185710 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.300-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001064032] |
Chr16:1194966 [GRCh38] Chr16:1244966 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5457C>T (p.Arg1819=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001049892] |
Chr16:1218221 [GRCh38] Chr16:1268221 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001064167]|not provided [RCV003322849] |
Chr16:1210135 [GRCh38] Chr16:1260135 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6265G>C (p.Glu2089Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001229883] |
Chr16:1220197 [GRCh38] Chr16:1270197 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481990]|Idiopathic generalized epilepsy [RCV001054584] |
Chr16:1209142 [GRCh38] Chr16:1259142 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3272C>T (p.Ser1091Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001246500] |
Chr16:1208130 [GRCh38] Chr16:1258130 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1808G>C (p.Arg603Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001230097] |
Chr16:1202258 [GRCh38] Chr16:1252258 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2605G>A (p.Val869Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001055333] |
Chr16:1206105 [GRCh38] Chr16:1256105 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481999]|Idiopathic generalized epilepsy [RCV001055401]|Inborn genetic diseases [RCV002553794] |
Chr16:1220543 [GRCh38] Chr16:1270543 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480750]|Idiopathic generalized epilepsy [RCV001228327]|Inborn genetic diseases [RCV002563139] |
Chr16:1200336 [GRCh38] Chr16:1250336 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5773C>T (p.Leu1925Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001202695] |
Chr16:1218537 [GRCh38] Chr16:1268537 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482127]|Idiopathic generalized epilepsy [RCV001069068]|Inborn genetic diseases [RCV002554561] |
Chr16:1209221 [GRCh38] Chr16:1259221 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5795A>C (p.Tyr1932Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001211888] |
Chr16:1218559 [GRCh38] Chr16:1268559 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4542G>A (p.Leu1514=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001038699] |
Chr16:1211781 [GRCh38] Chr16:1261781 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479343]|Idiopathic generalized epilepsy [RCV001056490] |
Chr16:1209362 [GRCh38] Chr16:1259362 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489646]|Idiopathic generalized epilepsy [RCV001056650] |
Chr16:1202392 [GRCh38] Chr16:1252392 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.617C>G (p.Pro206Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001062824] |
Chr16:1195997 [GRCh38] Chr16:1245997 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484104]|Idiopathic generalized epilepsy [RCV001204223]|Inborn genetic diseases [RCV002561148] |
Chr16:1209272 [GRCh38] Chr16:1259272 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6899T>C (p.Ile2300Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001232600] |
Chr16:1220831 [GRCh38] Chr16:1270831 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002481940]|Idiopathic generalized epilepsy [RCV001048356] |
Chr16:1218375 [GRCh38] Chr16:1268375 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3155-7C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505563]|Idiopathic generalized epilepsy [RCV001038841] |
Chr16:1208006 [GRCh38] Chr16:1258006 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=) |
single nucleotide variant |
CACNA1H-related condition [RCV003906163]|Idiopathic generalized epilepsy [RCV001057143] |
Chr16:1206257 [GRCh38] Chr16:1256257 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.322C>G (p.Leu108Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001215875] |
Chr16:1194994 [GRCh38] Chr16:1244994 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001216017] |
Chr16:1209179 [GRCh38] Chr16:1259179 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489628]|Idiopathic generalized epilepsy [RCV001053351] |
Chr16:1209140 [GRCh38] Chr16:1259140 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5776T>C (p.Ser1926Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001063500] |
Chr16:1218540 [GRCh38] Chr16:1268540 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1582C>T (p.His528Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001228981] |
Chr16:1202032 [GRCh38] Chr16:1252032 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479298]|Idiopathic generalized epilepsy [RCV001048986] |
Chr16:1219058 [GRCh38] Chr16:1269058 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001070746]|not provided [RCV001806016] |
Chr16:1210943 [GRCh38] Chr16:1260943 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480875]|Idiopathic generalized epilepsy [RCV001257211] |
Chr16:1153949 [GRCh38] Chr16:1203949 [GRCh37] Chr16:16p13.3 |
pathogenic|uncertain significance |
NM_021098.3(CACNA1H):c.5244+127C>T |
single nucleotide variant |
not provided [RCV001641564] |
Chr16:1215720 [GRCh38] Chr16:1265720 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3962G>C (p.Gly1321Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001257235] |
Chr16:1210486 [GRCh38] Chr16:1260486 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_624055)_(2153916_?)dup |
duplication |
Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] |
Chr16:624055..2153916 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.271A>G (p.Ser91Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001348050] |
Chr16:1154008 [GRCh38] Chr16:1204008 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 |
copy number gain |
not provided [RCV001259749] |
Chr16:85880..5249457 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.4350+6T>C |
single nucleotide variant |
CACNA1H-related condition [RCV003963237]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002486442]|Idiopathic generalized epilepsy [RCV001350137] |
Chr16:1211300 [GRCh38] Chr16:1261300 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3 |
copy number gain |
not provided [RCV001259760] |
Chr16:1233996..1509217 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001308380]|Inborn genetic diseases [RCV002542988]|not provided [RCV001288104] |
Chr16:1210904 [GRCh38] Chr16:1260904 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1212+12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002072996]|not provided [RCV001641793] |
Chr16:1200820 [GRCh38] Chr16:1250820 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001301003]|not provided [RCV003232292] |
Chr16:1201814 [GRCh38] Chr16:1251814 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5171G>A (p.Arg1724His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001319624] |
Chr16:1215373 [GRCh38] Chr16:1265373 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493640]|Idiopathic generalized epilepsy [RCV001313905]|Inborn genetic diseases [RCV002543635] |
Chr16:1212109 [GRCh38] Chr16:1262109 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2246C>G (p.Thr749Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001301351] |
Chr16:1204253 [GRCh38] Chr16:1254253 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3170C>T (p.Ser1057Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001297876] |
Chr16:1208028 [GRCh38] Chr16:1258028 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6301G>A (p.Val2101Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001317349] |
Chr16:1220233 [GRCh38] Chr16:1270233 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5023C>T (p.Arg1675Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001350406] |
Chr16:1215065 [GRCh38] Chr16:1265065 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499619]|Idiopathic generalized epilepsy [RCV001319982]|Inborn genetic diseases [RCV002546073] |
Chr16:1207849 [GRCh38] Chr16:1257849 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003770453]|not provided [RCV001288110] |
Chr16:1196017 [GRCh38] Chr16:1246017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476529]|Idiopathic generalized epilepsy [RCV001325566]|See cases [RCV002252361] |
Chr16:1215319 [GRCh38] Chr16:1265319 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr) |
single nucleotide variant |
not provided [RCV001288106] |
Chr16:1195462 [GRCh38] Chr16:1245462 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4223+3G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001308416] |
Chr16:1210974 [GRCh38] Chr16:1260974 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.940C>T (p.Pro314Ser) |
single nucleotide variant |
not provided [RCV001288111] |
Chr16:1200392 [GRCh38] Chr16:1250392 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499512]|Idiopathic generalized epilepsy [RCV001515943]|not specified [RCV001289365] |
Chr16:1201945 [GRCh38] Chr16:1251945 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1664C>A (p.Ala555Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001308547] |
Chr16:1202114 [GRCh38] Chr16:1252114 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001329834] |
Chr16:1210453 [GRCh38] Chr16:1260453 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5369C>T (p.Thr1790Ile) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV001329835] |
Chr16:1217964 [GRCh38] Chr16:1267964 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3967A>G (p.Thr1323Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001342788] |
Chr16:1210491 [GRCh38] Chr16:1260491 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3347G>A (p.Gly1116Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001314947] |
Chr16:1208205 [GRCh38] Chr16:1258205 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001302357] |
Chr16:1218450 [GRCh38] Chr16:1268450 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1046C>T (p.Ser349Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001342105] |
Chr16:1200498 [GRCh38] Chr16:1250498 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6064G>A (p.Asp2022Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001315045]|Inborn genetic diseases [RCV003166801] |
Chr16:1219996 [GRCh38] Chr16:1269996 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2231G>A (p.Arg744Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001298244] |
Chr16:1204238 [GRCh38] Chr16:1254238 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.354C>T (p.Gly118=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001309430] |
Chr16:1195026 [GRCh38] Chr16:1245026 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4061C>T (p.Ser1354Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001351942] |
Chr16:1210809 [GRCh38] Chr16:1260809 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334117] |
Chr16:1206230 [GRCh38] Chr16:1256230 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334122]|Idiopathic generalized epilepsy [RCV002546669] |
Chr16:1200426 [GRCh38] Chr16:1250426 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys) |
single nucleotide variant |
not provided [RCV001663640] |
Chr16:1200469 [GRCh38] Chr16:1250469 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003145550]|Idiopathic generalized epilepsy [RCV001312499] |
Chr16:1195940 [GRCh38] Chr16:1245940 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334120] |
Chr16:1210094 [GRCh38] Chr16:1260094 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486281]|Idiopathic generalized epilepsy [RCV001321451] |
Chr16:1207362 [GRCh38] Chr16:1257362 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4963G>A (p.Val1655Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001295360] |
Chr16:1215005 [GRCh38] Chr16:1265005 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6869C>T (p.Pro2290Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001315195] |
Chr16:1220801 [GRCh38] Chr16:1270801 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476555]|Idiopathic generalized epilepsy [RCV001337256] |
Chr16:1206132 [GRCh38] Chr16:1256132 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6838C>G (p.Pro2280Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001315205] |
Chr16:1220770 [GRCh38] Chr16:1270770 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2018C>G (p.Pro673Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001343660] |
Chr16:1204025 [GRCh38] Chr16:1254025 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.881G>A (p.Arg294His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001295513] |
Chr16:1200333 [GRCh38] Chr16:1250333 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1251643)_(1255285_?)del |
deletion |
Idiopathic generalized epilepsy [RCV001309583] |
Chr16:1251643..1255285 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244952)_(1271014_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001309584] |
Chr16:1244952..1271014 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486211]|Idiopathic generalized epilepsy [RCV001309638] |
Chr16:1213825 [GRCh38] Chr16:1263825 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2789+16C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334118]|Idiopathic generalized epilepsy [RCV002070177] |
Chr16:1206305 [GRCh38] Chr16:1256305 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV002471084]|Idiopathic generalized epilepsy [RCV001315641] |
Chr16:1205133 [GRCh38] Chr16:1255133 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6379G>A (p.Gly2127Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001297122] |
Chr16:1220311 [GRCh38] Chr16:1270311 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4728G>A (p.Lys1576=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001415452] |
Chr16:1212107 [GRCh38] Chr16:1262107 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486225]|Idiopathic generalized epilepsy [RCV001314014] |
Chr16:1209252 [GRCh38] Chr16:1259252 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.547A>C (p.Met183Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001298475] |
Chr16:1195927 [GRCh38] Chr16:1245927 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) |
single nucleotide variant |
CACNA1H-related condition [RCV003898360]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002493901]|Idiopathic generalized epilepsy [RCV001373327] |
Chr16:1215566 [GRCh38] Chr16:1265566 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6014G>T (p.Arg2005Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001373328] |
Chr16:1219096 [GRCh38] Chr16:1269096 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1714G>A (p.Val572Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001350252] |
Chr16:1202164 [GRCh38] Chr16:1252164 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2512C>T (p.Leu838=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001397397] |
Chr16:1205174 [GRCh38] Chr16:1255174 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493706]|Idiopathic generalized epilepsy [RCV001326883] |
Chr16:1215345 [GRCh38] Chr16:1265345 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) |
microsatellite |
Idiopathic generalized epilepsy [RCV003770465]|not provided [RCV001289366] |
Chr16:1202423..1202425 [GRCh38] Chr16:1252423..1252425 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493820]|Idiopathic generalized epilepsy [RCV003771038]|Inborn genetic diseases [RCV002547606]|not provided [RCV001355362] |
Chr16:1215285 [GRCh38] Chr16:1265285 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504611]|Idiopathic generalized epilepsy [RCV001368542] |
Chr16:1220945 [GRCh38] Chr16:1270945 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3028C>T (p.Leu1010=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001433419] |
Chr16:1207395 [GRCh38] Chr16:1257395 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1554C>G (p.Val518=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001391815] |
Chr16:1202004 [GRCh38] Chr16:1252004 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001296053] |
Chr16:1153865 [GRCh38] Chr16:1203865 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5084G>C (p.Gly1695Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001359202] |
Chr16:1215286 [GRCh38] Chr16:1265286 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.99C>G (p.Pro33=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001433611] |
Chr16:1153836 [GRCh38] Chr16:1203836 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488236]|Idiopathic generalized epilepsy [RCV001421286] |
Chr16:1201989 [GRCh38] Chr16:1251989 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3558C>T (p.Pro1186=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001415021]|Inborn genetic diseases [RCV002341898] |
Chr16:1209226 [GRCh38] Chr16:1259226 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486501]|Idiopathic generalized epilepsy [RCV001359742] |
Chr16:1200371 [GRCh38] Chr16:1250371 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493883]|Idiopathic generalized epilepsy [RCV001369288] |
Chr16:1209090 [GRCh38] Chr16:1259090 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493547]|Idiopathic generalized epilepsy [RCV001294770] |
Chr16:1210631 [GRCh38] Chr16:1260631 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001360001]|Inborn genetic diseases [RCV002547733]|not provided [RCV001751703] |
Chr16:1211958 [GRCh38] Chr16:1261958 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2651G>A (p.Arg884His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001313071] |
Chr16:1206151 [GRCh38] Chr16:1256151 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.270C>T (p.Arg90=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001433359] |
Chr16:1154007 [GRCh38] Chr16:1204007 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5957C>T (p.Ser1986Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001360341] |
Chr16:1219039 [GRCh38] Chr16:1269039 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001839041]|Idiopathic generalized epilepsy [RCV001358977]|not provided [RCV001751696] |
Chr16:1195432 [GRCh38] Chr16:1245432 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2193G>A (p.Thr731=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001415313] |
Chr16:1204200 [GRCh38] Chr16:1254200 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4198C>T (p.Leu1400=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001392710] |
Chr16:1210946 [GRCh38] Chr16:1260946 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001306024]|Inborn genetic diseases [RCV002543148] |
Chr16:1210408 [GRCh38] Chr16:1260408 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3387_3395del (p.Cys1129_Pro1131del) |
deletion |
Idiopathic generalized epilepsy [RCV001371459] |
Chr16:1209050..1209058 [GRCh38] Chr16:1259050..1259058 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2992C>A (p.Leu998Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001370471] |
Chr16:1207359 [GRCh38] Chr16:1257359 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2960C>T (p.Thr987Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001362589] |
Chr16:1207327 [GRCh38] Chr16:1257327 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3196C>T (p.Leu1066=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001397270] |
Chr16:1208054 [GRCh38] Chr16:1258054 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1203G>C (p.Leu401=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001392719]|Inborn genetic diseases [RCV002350743] |
Chr16:1200799 [GRCh38] Chr16:1250799 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1785_1796del (p.Thr597_Ala600del) |
deletion |
Idiopathic generalized epilepsy [RCV001315232] |
Chr16:1202229..1202240 [GRCh38] Chr16:1252229..1252240 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5802C>A (p.Phe1934Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001372916] |
Chr16:1218566 [GRCh38] Chr16:1268566 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5144G>A (p.Arg1715His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001362663] |
Chr16:1215346 [GRCh38] Chr16:1265346 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4737G>T (p.Arg1579=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001422041] |
Chr16:1212116 [GRCh38] Chr16:1262116 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504692]|Idiopathic generalized epilepsy [RCV001414892] |
Chr16:1198634 [GRCh38] Chr16:1248634 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5980C>T (p.Pro1994Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001313172] |
Chr16:1219062 [GRCh38] Chr16:1269062 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001351651]|Inborn genetic diseases [RCV003284248] |
Chr16:1220319 [GRCh38] Chr16:1270319 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001360878] |
Chr16:1202383 [GRCh38] Chr16:1252383 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1212+23G>A |
single nucleotide variant |
not provided [RCV001581410] |
Chr16:1200831 [GRCh38] Chr16:1250831 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-311A>G |
single nucleotide variant |
not provided [RCV001528032] |
Chr16:1213469 [GRCh38] Chr16:1263469 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6848A>G (p.Asp2283Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001414896] |
Chr16:1220780 [GRCh38] Chr16:1270780 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2003-10T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001397115] |
Chr16:1204000 [GRCh38] Chr16:1254000 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3037A>G (p.Ile1013Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001361146] |
Chr16:1207404 [GRCh38] Chr16:1257404 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5927G>T (p.Cys1976Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001341854] |
Chr16:1219009 [GRCh38] Chr16:1269009 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4769C>T (p.Pro1590Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001344654] |
Chr16:1212520 [GRCh38] Chr16:1262520 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6446G>A (p.Arg2149Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001364125] |
Chr16:1220378 [GRCh38] Chr16:1270378 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6911A>G (p.Glu2304Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001301389] |
Chr16:1220843 [GRCh38] Chr16:1270843 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476591]|Idiopathic generalized epilepsy [RCV001344744]|Inborn genetic diseases [RCV003263981] |
Chr16:1220213 [GRCh38] Chr16:1270213 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2604-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001364231] |
Chr16:1206101 [GRCh38] Chr16:1256101 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4720GAG[1] (p.Glu1575del) |
microsatellite |
Idiopathic generalized epilepsy [RCV001364813] |
Chr16:1212099..1212101 [GRCh38] Chr16:1262099..1262101 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476460]|Idiopathic generalized epilepsy [RCV001314527] |
Chr16:1202141 [GRCh38] Chr16:1252141 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2322G>T (p.Trp774Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001296914] |
Chr16:1204329 [GRCh38] Chr16:1254329 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6344C>A (p.Ala2115Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001296937] |
Chr16:1220276 [GRCh38] Chr16:1270276 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001318550] |
Chr16:1205140 [GRCh38] Chr16:1255140 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2851G>A (p.Val951Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001343622] |
Chr16:1207062 [GRCh38] Chr16:1257062 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5255T>C (p.Leu1752Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001345793] |
Chr16:1216942 [GRCh38] Chr16:1266942 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1248605)_(1270994_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001323936] |
Chr16:1248605..1270994 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4465A>G (p.Asn1489Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001346582] |
Chr16:1211595 [GRCh38] Chr16:1261595 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499737]|Idiopathic generalized epilepsy [RCV001362933] |
Chr16:1208217 [GRCh38] Chr16:1258217 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001329838]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002493721]|Idiopathic generalized epilepsy [RCV003770823] |
Chr16:1220063 [GRCh38] Chr16:1270063 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001329839]|Idiopathic generalized epilepsy [RCV003770824] |
Chr16:1220123 [GRCh38] Chr16:1270123 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476415]|Idiopathic generalized epilepsy [RCV001307412] |
Chr16:1220533 [GRCh38] Chr16:1270533 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3605G>A (p.Arg1202Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001323995] |
Chr16:1209273 [GRCh38] Chr16:1259273 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1763G>A (p.Arg588Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001324003] |
Chr16:1202213 [GRCh38] Chr16:1252213 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1730A>G (p.His577Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001371605] |
Chr16:1202180 [GRCh38] Chr16:1252180 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) |
single nucleotide variant |
CACNA1H-related condition [RCV003918826]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002499502]|Idiopathic generalized epilepsy [RCV001515944]|not specified [RCV001288109] |
Chr16:1219070 [GRCh38] Chr16:1269070 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499642]|Idiopathic generalized epilepsy [RCV001326547]|Inborn genetic diseases [RCV002546188] |
Chr16:1220386 [GRCh38] Chr16:1270386 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244962)_(1270994_?)del |
deletion |
Idiopathic generalized epilepsy [RCV001365123] |
Chr16:1244962..1270994 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244962)_(1260981_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001365124] |
Chr16:1244962..1260981 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499561]|Idiopathic generalized epilepsy [RCV001301755] |
Chr16:1210048 [GRCh38] Chr16:1260048 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1741C>T (p.His581Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001324126] |
Chr16:1202191 [GRCh38] Chr16:1252191 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499695]|Idiopathic generalized epilepsy [RCV001346853] |
Chr16:1212117 [GRCh38] Chr16:1262117 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5294C>T (p.Ala1765Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001346867] |
Chr16:1216981 [GRCh38] Chr16:1266981 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.567C>G (p.Asp189Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001365303] |
Chr16:1195947 [GRCh38] Chr16:1245947 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001351113] |
Chr16:1212120 [GRCh38] Chr16:1262120 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2522T>A (p.Leu841Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001343998] |
Chr16:1205184 [GRCh38] Chr16:1255184 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486291]|Idiopathic generalized epilepsy [RCV001323134] |
Chr16:1209282 [GRCh38] Chr16:1259282 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476701]|Idiopathic generalized epilepsy [RCV001372160] |
Chr16:1218451 [GRCh38] Chr16:1268451 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2501G>A (p.Ser834Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001323235] |
Chr16:1205163 [GRCh38] Chr16:1255163 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504545]|Idiopathic generalized epilepsy [RCV001346103] |
Chr16:1204216 [GRCh38] Chr16:1254216 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1721G>A (p.Ser574Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001347120] |
Chr16:1202171 [GRCh38] Chr16:1252171 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003097668]|not provided [RCV002284653] |
Chr16:1218337 [GRCh38] Chr16:1268337 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001302092]|not provided [RCV002280175] |
Chr16:1202123 [GRCh38] Chr16:1252123 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.723C>G (p.Phe241Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001350454] |
Chr16:1198694 [GRCh38] Chr16:1248694 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499604]|Idiopathic generalized epilepsy [RCV001314101] |
Chr16:1220330 [GRCh38] Chr16:1270330 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.13G>T (p.Ala5Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001322245] |
Chr16:1153750 [GRCh38] Chr16:1203750 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NC_000016.9:g.(?_765584)_(1204036_?)del |
deletion |
Idiopathic generalized epilepsy [RCV001352399] |
Chr16:765584..1204036 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5153G>A (p.Arg1718His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001302274] |
Chr16:1215355 [GRCh38] Chr16:1265355 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6563G>A (p.Ser2188Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001323397] |
Chr16:1220495 [GRCh38] Chr16:1270495 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001348131] |
Chr16:1153872 [GRCh38] Chr16:1203872 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3845+3G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001313474] |
Chr16:1210138 [GRCh38] Chr16:1260138 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488155]|Idiopathic generalized epilepsy [RCV001370062] |
Chr16:1220193 [GRCh38] Chr16:1270193 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6134C>T (p.Pro2045Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001324763] |
Chr16:1220066 [GRCh38] Chr16:1270066 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499681]|Idiopathic generalized epilepsy [RCV001342905] |
Chr16:1194979 [GRCh38] Chr16:1244979 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6145G>A (p.Val2049Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001344310] |
Chr16:1220077 [GRCh38] Chr16:1270077 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1457G>T (p.Trp486Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001338349] |
Chr16:1201907 [GRCh38] Chr16:1251907 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4927A>G (p.Lys1643Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001351493] |
Chr16:1213929 [GRCh38] Chr16:1263929 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4350+3G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001325993] |
Chr16:1211297 [GRCh38] Chr16:1261297 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5267T>C (p.Phe1756Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001327045] |
Chr16:1216954 [GRCh38] Chr16:1266954 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493672]|Idiopathic generalized epilepsy [RCV001319480] |
Chr16:1204186 [GRCh38] Chr16:1254186 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4510G>A (p.Asp1504Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001347980] |
Chr16:1211749 [GRCh38] Chr16:1261749 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6002G>T (p.Arg2001Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001364265] |
Chr16:1219084 [GRCh38] Chr16:1269084 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3374G>A (p.Arg1125Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001370877] |
Chr16:1209042 [GRCh38] Chr16:1259042 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001373223] |
Chr16:1219107 [GRCh38] Chr16:1269107 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486425]|Idiopathic generalized epilepsy [RCV001348291] |
Chr16:1205207 [GRCh38] Chr16:1255207 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3727G>C (p.Asp1243His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001309274] |
Chr16:1209395 [GRCh38] Chr16:1259395 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6818T>A (p.Leu2273His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001363896] |
Chr16:1220750 [GRCh38] Chr16:1270750 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1837_1844del (p.Tyr613fs) |
deletion |
Idiopathic generalized epilepsy [RCV001364523] |
Chr16:1202285..1202292 [GRCh38] Chr16:1252285..1252292 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4154C>T (p.Ser1385Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001339630]|Inborn genetic diseases [RCV002546879] |
Chr16:1210902 [GRCh38] Chr16:1260902 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5465C>G (p.Ser1822Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001339644] |
Chr16:1218229 [GRCh38] Chr16:1268229 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3624C>T (p.Ala1208=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001412443] |
Chr16:1209292 [GRCh38] Chr16:1259292 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6557A>T (p.Lys2186Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001295861] |
Chr16:1220489 [GRCh38] Chr16:1270489 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001334121] |
Chr16:1195522 [GRCh38] Chr16:1245522 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486133]|Idiopathic generalized epilepsy [RCV001296850] |
Chr16:1213816 [GRCh38] Chr16:1263816 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3262C>G (p.Pro1088Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001351791] |
Chr16:1208120 [GRCh38] Chr16:1258120 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1235A>G (p.Asn412Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001308929] |
Chr16:1201685 [GRCh38] Chr16:1251685 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001366313]|Inborn genetic diseases [RCV002550059] |
Chr16:1202215 [GRCh38] Chr16:1252215 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476672]|Idiopathic generalized epilepsy [RCV001366353]|not specified [RCV003987853] |
Chr16:1201880 [GRCh38] Chr16:1251880 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV001329836]|Idiopathic generalized epilepsy [RCV003770822] |
Chr16:1217969 [GRCh38] Chr16:1267969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1785_1787del (p.Ala596del) |
deletion |
Idiopathic generalized epilepsy [RCV001325480] |
Chr16:1202233..1202235 [GRCh38] Chr16:1252233..1252235 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001336539] |
Chr16:1153882 [GRCh38] Chr16:1203882 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2359C>A (p.Arg787Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001315565] |
Chr16:1204366 [GRCh38] Chr16:1254366 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001871706]|not provided [RCV001288103] |
Chr16:1210090 [GRCh38] Chr16:1260090 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2566C>T (p.Pro856Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001371313] |
Chr16:1205228 [GRCh38] Chr16:1255228 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488133]|Idiopathic generalized epilepsy [RCV001366539]|Inborn genetic diseases [RCV003246953] |
Chr16:1208091 [GRCh38] Chr16:1258091 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3229A>G (p.Ile1077Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001305582] |
Chr16:1208087 [GRCh38] Chr16:1258087 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486306]|Idiopathic generalized epilepsy [RCV001325559] |
Chr16:1209135 [GRCh38] Chr16:1259135 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486209]|Idiopathic generalized epilepsy [RCV001309372] |
Chr16:1195063 [GRCh38] Chr16:1245063 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3297C>T (p.Ser1099=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001412441] |
Chr16:1208155 [GRCh38] Chr16:1258155 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del) |
microsatellite |
Idiopathic generalized epilepsy [RCV001366819] |
Chr16:1198690..1198692 [GRCh38] Chr16:1248690..1248692 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4155G>A (p.Ser1385=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001366856] |
Chr16:1210903 [GRCh38] Chr16:1260903 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3517G>C (p.Gly1173Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001300091] |
Chr16:1209185 [GRCh38] Chr16:1259185 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6893G>A (p.Gly2298Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001306978] |
Chr16:1220825 [GRCh38] Chr16:1270825 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 |
copy number gain |
not provided [RCV001537890] |
Chr16:84485..5251013 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001368362]|Inborn genetic diseases [RCV003169878] |
Chr16:1208043 [GRCh38] Chr16:1258043 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.36G>C (p.Arg12=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001396282] |
Chr16:1153773 [GRCh38] Chr16:1203773 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3675C>T (p.Pro1225=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001396361] |
Chr16:1209343 [GRCh38] Chr16:1259343 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4786C>T (p.Arg1596Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001371710] |
Chr16:1213788 [GRCh38] Chr16:1263788 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2850C>T (p.Thr950=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001412592] |
Chr16:1207061 [GRCh38] Chr16:1257061 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4945C>T (p.Leu1649Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001358948] |
Chr16:1214987 [GRCh38] Chr16:1264987 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001494372]|not provided [RCV001751775] |
Chr16:1209398 [GRCh38] Chr16:1259398 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4461C>T (p.Phe1487=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001421147] |
Chr16:1211591 [GRCh38] Chr16:1261591 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.412-4G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001421288] |
Chr16:1195428 [GRCh38] Chr16:1245428 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488294]|Idiopathic generalized epilepsy [RCV001494822] |
Chr16:1220565 [GRCh38] Chr16:1270565 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4505C>G (p.Ser1502Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001298689] |
Chr16:1211744 [GRCh38] Chr16:1261744 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499726]|Idiopathic generalized epilepsy [RCV001359414] |
Chr16:1200452 [GRCh38] Chr16:1250452 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3182C>A (p.Thr1061Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001365919] |
Chr16:1208040 [GRCh38] Chr16:1258040 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1511_1516del (p.Gln504_Arg505del) |
deletion |
Idiopathic generalized epilepsy [RCV001303978] |
Chr16:1201957..1201962 [GRCh38] Chr16:1251957..1251962 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5445+9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001394159] |
Chr16:1218049 [GRCh38] Chr16:1268049 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501780]|Idiopathic generalized epilepsy [RCV001513416] |
Chr16:1209229 [GRCh38] Chr16:1259229 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501601]|Idiopathic generalized epilepsy [RCV001456897] |
Chr16:1206278 [GRCh38] Chr16:1256278 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.873C>T (p.Cys291=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001469846] |
Chr16:1200325 [GRCh38] Chr16:1250325 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495703]|Idiopathic generalized epilepsy [RCV001473255] |
Chr16:1205230 [GRCh38] Chr16:1255230 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+9G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001473352] |
Chr16:1213940 [GRCh38] Chr16:1263940 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2940G>A (p.Leu980=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001404745] |
Chr16:1207307 [GRCh38] Chr16:1257307 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=) |
single nucleotide variant |
CACNA1H-related condition [RCV003938777]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002488249]|Idiopathic generalized epilepsy [RCV001441263] |
Chr16:1202115 [GRCh38] Chr16:1252115 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4350+13del |
deletion |
Idiopathic generalized epilepsy [RCV001464609] |
Chr16:1211303 [GRCh38] Chr16:1261303 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495707]|Idiopathic generalized epilepsy [RCV001475197]|not provided [RCV003394074] |
Chr16:1208197 [GRCh38] Chr16:1258197 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4140C>T (p.Val1380=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001451593] |
Chr16:1210888 [GRCh38] Chr16:1260888 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1074C>T (p.Ala358=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001516176] |
Chr16:1200526 [GRCh38] Chr16:1250526 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3699C>T (p.Asp1233=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001514882] |
Chr16:1209367 [GRCh38] Chr16:1259367 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4224-7C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501683]|Idiopathic generalized epilepsy [RCV001490958] |
Chr16:1211161 [GRCh38] Chr16:1261161 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5628G>C (p.Leu1876=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001473832] |
Chr16:1218392 [GRCh38] Chr16:1268392 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1719C>T (p.His573=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506569]|Idiopathic generalized epilepsy [RCV001492592] |
Chr16:1202169 [GRCh38] Chr16:1252169 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6318C>T (p.Ser2106=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001425596] |
Chr16:1220250 [GRCh38] Chr16:1270250 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.375C>T (p.Asp125=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001484831] |
Chr16:1195047 [GRCh38] Chr16:1245047 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.561G>A (p.Ser187=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001471191] |
Chr16:1195941 [GRCh38] Chr16:1245941 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1329C>T (p.Asn443=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001455630] |
Chr16:1201779 [GRCh38] Chr16:1251779 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5373C>T (p.Phe1791=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001486261]|not provided [RCV003394078] |
Chr16:1217968 [GRCh38] Chr16:1267968 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1677A>G (p.Pro559=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001506521] |
Chr16:1202127 [GRCh38] Chr16:1252127 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5182C>T (p.Leu1728=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001496796] |
Chr16:1215531 [GRCh38] Chr16:1265531 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5888-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001400244] |
Chr16:1218961 [GRCh38] Chr16:1268961 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.7002G>A (p.Glu2334=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001439050] |
Chr16:1220934 [GRCh38] Chr16:1270934 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504709]|Idiopathic generalized epilepsy [RCV001430935] |
Chr16:1220781 [GRCh38] Chr16:1270781 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4170G>A (p.Lys1390=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001474035] |
Chr16:1210918 [GRCh38] Chr16:1260918 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2790-5C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003946234]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002501640]|Idiopathic generalized epilepsy [RCV001475511] |
Chr16:1206996 [GRCh38] Chr16:1256996 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.969G>A (p.Thr323=) |
single nucleotide variant |
CACNA1H-related condition [RCV003948442]|Idiopathic generalized epilepsy [RCV001492767]|Inborn genetic diseases [RCV002384810] |
Chr16:1200421 [GRCh38] Chr16:1250421 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3696C>T (p.Ile1232=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001500539] |
Chr16:1209364 [GRCh38] Chr16:1259364 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4071C>T (p.His1357=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001466268] |
Chr16:1210819 [GRCh38] Chr16:1260819 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4266G>A (p.Thr1422=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001436822] |
Chr16:1211210 [GRCh38] Chr16:1261210 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5675G>A (p.Arg1892His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001520301] |
Chr16:1218439 [GRCh38] Chr16:1268439 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2991C>T (p.Ala997=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001482861] |
Chr16:1207358 [GRCh38] Chr16:1257358 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6063C>T (p.Thr2021=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001485225] |
Chr16:1219995 [GRCh38] Chr16:1269995 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4017C>T (p.Phe1339=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001400593] |
Chr16:1210630 [GRCh38] Chr16:1260630 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493951]|Idiopathic generalized epilepsy [RCV001400637] |
Chr16:1201710 [GRCh38] Chr16:1251710 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2976C>T (p.Ala992=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001499597] |
Chr16:1207343 [GRCh38] Chr16:1257343 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6846G>A (p.Leu2282=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001471911] |
Chr16:1220778 [GRCh38] Chr16:1270778 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.246C>T (p.Cys82=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001400908] |
Chr16:1153983 [GRCh38] Chr16:1203983 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6714A>T (p.Ser2238=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001406090] |
Chr16:1220646 [GRCh38] Chr16:1270646 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5064C>T (p.Ile1688=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001397955] |
Chr16:1215266 [GRCh38] Chr16:1265266 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5499G>A (p.Pro1833=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001483321] |
Chr16:1218263 [GRCh38] Chr16:1268263 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5685C>T (p.Asp1895=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001483322] |
Chr16:1218449 [GRCh38] Chr16:1268449 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5174-4dup |
duplication |
Idiopathic generalized epilepsy [RCV001521501] |
Chr16:1215516..1215517 [GRCh38] Chr16:1265516..1265517 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488273]|Idiopathic generalized epilepsy [RCV001470142] |
Chr16:1202361 [GRCh38] Chr16:1252361 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6792C>T (p.Pro2264=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001493206] |
Chr16:1220724 [GRCh38] Chr16:1270724 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2379G>A (p.Lys793=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001493224] |
Chr16:1204386 [GRCh38] Chr16:1254386 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4764T>G (p.Thr1588=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001481426] |
Chr16:1212515 [GRCh38] Chr16:1262515 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001522122]|not provided [RCV003327519] |
Chr16:1201760 [GRCh38] Chr16:1251760 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.993C>T (p.Gly331=) |
single nucleotide variant |
CACNA1H-related condition [RCV003956090]|Idiopathic generalized epilepsy [RCV001493271] |
Chr16:1200445 [GRCh38] Chr16:1250445 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3342A>G (p.Pro1114=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001474774] |
Chr16:1208200 [GRCh38] Chr16:1258200 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3988G>A (p.Val1330Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001493450]|not provided [RCV001751774] |
Chr16:1210601 [GRCh38] Chr16:1260601 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2898C>T (p.Thr966=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001464495]|Inborn genetic diseases [RCV002439100] |
Chr16:1207109 [GRCh38] Chr16:1257109 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5445+6C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003956025]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002495689]|Idiopathic generalized epilepsy [RCV001467565] |
Chr16:1218046 [GRCh38] Chr16:1268046 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=) |
single nucleotide variant |
CACNA1H-related condition [RCV003930909]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002495577]|Idiopathic generalized epilepsy [RCV001424232] |
Chr16:1205215 [GRCh38] Chr16:1255215 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.831G>A (p.Pro277=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001478595] |
Chr16:1200283 [GRCh38] Chr16:1250283 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2524C>T (p.Leu842=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001488904] |
Chr16:1205186 [GRCh38] Chr16:1255186 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6594G>A (p.Ala2198=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001453346] |
Chr16:1220526 [GRCh38] Chr16:1270526 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6049-241A>G |
single nucleotide variant |
not provided [RCV001608769] |
Chr16:1219740 [GRCh38] Chr16:1269740 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2421G>A (p.Thr807=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001435382] |
Chr16:1204428 [GRCh38] Chr16:1254428 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6495T>C (p.Pro2165=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001409580] |
Chr16:1220427 [GRCh38] Chr16:1270427 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3364-196G>A |
single nucleotide variant |
not provided [RCV001539279] |
Chr16:1208836 [GRCh38] Chr16:1258836 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-7C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003946148]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002495613]|Idiopathic generalized epilepsy [RCV001439469] |
Chr16:1205107 [GRCh38] Chr16:1255107 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1665G>T (p.Ala555=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001446031] |
Chr16:1202115 [GRCh38] Chr16:1252115 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.849G>A (p.Glu283=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001448655] |
Chr16:1200301 [GRCh38] Chr16:1250301 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6525C>G (p.Ala2175=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001419970] |
Chr16:1220457 [GRCh38] Chr16:1270457 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5574G>A (p.Val1858=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001409598] |
Chr16:1218338 [GRCh38] Chr16:1268338 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3670C>T (p.Leu1224=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001446298] |
Chr16:1209338 [GRCh38] Chr16:1259338 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2789+7G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001441386] |
Chr16:1206296 [GRCh38] Chr16:1256296 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.168C>T (p.Ala56=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001441105] |
Chr16:1153905 [GRCh38] Chr16:1203905 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.780C>T (p.Cys260=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001446711] |
Chr16:1198751 [GRCh38] Chr16:1248751 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5116G>A (p.Ala1706Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001435837] |
Chr16:1215318 [GRCh38] Chr16:1265318 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501544]|Idiopathic generalized epilepsy [RCV001437420] |
Chr16:1220310 [GRCh38] Chr16:1270310 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501530]|Idiopathic generalized epilepsy [RCV001432957] |
Chr16:1153758 [GRCh38] Chr16:1203758 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495612]|Idiopathic generalized epilepsy [RCV001439002] |
Chr16:1202394 [GRCh38] Chr16:1252394 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002504719]|Idiopathic generalized epilepsy [RCV001435988] |
Chr16:1218428 [GRCh38] Chr16:1268428 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5241C>T (p.Pro1747=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001444196] |
Chr16:1215590 [GRCh38] Chr16:1265590 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506523]|Idiopathic generalized epilepsy [RCV001446699] |
Chr16:1204065 [GRCh38] Chr16:1254065 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.732C>T (p.Phe244=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001444388] |
Chr16:1198703 [GRCh38] Chr16:1248703 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2937C>A (p.Val979=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001418992] |
Chr16:1207304 [GRCh38] Chr16:1257304 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5700C>G (p.Pro1900=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001449508] |
Chr16:1218464 [GRCh38] Chr16:1268464 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476737]|Idiopathic generalized epilepsy [RCV001400643] |
Chr16:1205242 [GRCh38] Chr16:1255242 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+7C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001429160] |
Chr16:1210658 [GRCh38] Chr16:1260658 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2356C>T (p.Leu786=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001403715] |
Chr16:1204363 [GRCh38] Chr16:1254363 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3025C>T (p.Leu1009=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001444722] |
Chr16:1207392 [GRCh38] Chr16:1257392 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.16C>A (p.Arg6=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001399834] |
Chr16:1153753 [GRCh38] Chr16:1203753 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.705G>C (p.Leu235=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001429350] |
Chr16:1198676 [GRCh38] Chr16:1248676 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3921C>T (p.Asn1307=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001423254] |
Chr16:1210445 [GRCh38] Chr16:1260445 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4621A>G (p.Ile1541Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001423397] |
Chr16:1212000 [GRCh38] Chr16:1262000 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.126G>C (p.Arg42=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001405808] |
Chr16:1153863 [GRCh38] Chr16:1203863 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3003C>T (p.Phe1001=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001444908] |
Chr16:1207370 [GRCh38] Chr16:1257370 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6900A>T (p.Ile2300=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001447603] |
Chr16:1220832 [GRCh38] Chr16:1270832 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495575]|Idiopathic generalized epilepsy [RCV001423786] |
Chr16:1204374 [GRCh38] Chr16:1254374 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5190G>A (p.Lys1730=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001401285] |
Chr16:1215539 [GRCh38] Chr16:1265539 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501558]|Idiopathic generalized epilepsy [RCV001442620] |
Chr16:1202238 [GRCh38] Chr16:1252238 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3411C>T (p.Ala1137=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001429585] |
Chr16:1209079 [GRCh38] Chr16:1259079 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5412G>A (p.Val1804=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001408475] |
Chr16:1218007 [GRCh38] Chr16:1268007 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6135G>A (p.Pro2045=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001411294] |
Chr16:1220067 [GRCh38] Chr16:1270067 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1464G>A (p.Lys488=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001435043] |
Chr16:1201914 [GRCh38] Chr16:1251914 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001439010] |
Chr16:1205108 [GRCh38] Chr16:1255108 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4803C>T (p.Ala1601=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001406036] |
Chr16:1213805 [GRCh38] Chr16:1263805 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2649G>A (p.Leu883=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001434943] |
Chr16:1206149 [GRCh38] Chr16:1256149 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001406157] |
Chr16:1194963 [GRCh38] Chr16:1244963 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4086C>T (p.Ser1362=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001442686]|Inborn genetic diseases [RCV002322468] |
Chr16:1210834 [GRCh38] Chr16:1260834 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2433C>T (p.Gly811=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001411309] |
Chr16:1204440 [GRCh38] Chr16:1254440 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.546-8G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001440483] |
Chr16:1195918 [GRCh38] Chr16:1245918 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1266C>T (p.Phe422=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001445699] |
Chr16:1201716 [GRCh38] Chr16:1251716 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002493955]|Idiopathic generalized epilepsy [RCV001402838] |
Chr16:1201671 [GRCh38] Chr16:1251671 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5973C>T (p.Ser1991=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001402896] |
Chr16:1219055 [GRCh38] Chr16:1269055 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1845G>A (p.Thr615=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001442879] |
Chr16:1202295 [GRCh38] Chr16:1252295 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488242]|Idiopathic generalized epilepsy [RCV001432342] |
Chr16:1212038 [GRCh38] Chr16:1262038 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6207T>C (p.Thr2069=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001409202] |
Chr16:1220139 [GRCh38] Chr16:1270139 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6049-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001411700] |
Chr16:1219972 [GRCh38] Chr16:1269972 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=) |
single nucleotide variant |
CACNA1H-related condition [RCV003946164]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002506521]|Idiopathic generalized epilepsy [RCV001445725] |
Chr16:1212044 [GRCh38] Chr16:1262044 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6361G>A (p.Glu2121Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001448357] |
Chr16:1220293 [GRCh38] Chr16:1270293 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4760-8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001440777] |
Chr16:1212503 [GRCh38] Chr16:1262503 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5887+10_5887+20del |
deletion |
Idiopathic generalized epilepsy [RCV001457464] |
Chr16:1218659..1218669 [GRCh38] Chr16:1268659..1268669 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002568191]|not provided [RCV001531219] |
Chr16:1209404 [GRCh38] Chr16:1259404 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1213-183T>G |
single nucleotide variant |
not provided [RCV001714663] |
Chr16:1201480 [GRCh38] Chr16:1251480 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3015G>A (p.Val1005=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001514226] |
Chr16:1207382 [GRCh38] Chr16:1257382 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4929+78T>C |
single nucleotide variant |
not provided [RCV001590731] |
Chr16:1214009 [GRCh38] Chr16:1264009 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4536C>T (p.Asp1512=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001494796] |
Chr16:1211775 [GRCh38] Chr16:1261775 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3972G>A (p.Glu1324=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001494358] |
Chr16:1210585 [GRCh38] Chr16:1260585 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4201C>T (p.Leu1401=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001485765] |
Chr16:1210949 [GRCh38] Chr16:1260949 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3937C>T (p.Leu1313=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001461388] |
Chr16:1210461 [GRCh38] Chr16:1260461 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.81G>A (p.Gly27=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001502040] |
Chr16:1153818 [GRCh38] Chr16:1203818 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-101G>A |
single nucleotide variant |
not provided [RCV001686348] |
Chr16:1201562 [GRCh38] Chr16:1251562 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1119+7G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001502432] |
Chr16:1200578 [GRCh38] Chr16:1250578 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501606]|Idiopathic generalized epilepsy [RCV001458227] |
Chr16:1209352 [GRCh38] Chr16:1259352 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1929C>T (p.Thr643=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001490543] |
Chr16:1202379 [GRCh38] Chr16:1252379 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6396G>A (p.Leu2132=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001473453] |
Chr16:1220328 [GRCh38] Chr16:1270328 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5259C>T (p.Gly1753=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001490773] |
Chr16:1216946 [GRCh38] Chr16:1266946 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.537C>T (p.Val179=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501583]|Idiopathic generalized epilepsy [RCV001450771] |
Chr16:1195557 [GRCh38] Chr16:1245557 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6049-301G>A |
single nucleotide variant |
not provided [RCV001619353] |
Chr16:1219680 [GRCh38] Chr16:1269680 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2442C>T (p.Tyr814=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001486211] |
Chr16:1204449 [GRCh38] Chr16:1254449 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2946C>T (p.Asn982=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001476212] |
Chr16:1207313 [GRCh38] Chr16:1257313 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.21C>G (p.Ala7=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001506689] |
Chr16:1153758 [GRCh38] Chr16:1203758 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.864G>C (p.Pro288=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001469343] |
Chr16:1200316 [GRCh38] Chr16:1250316 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2451+7G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001506919] |
Chr16:1204465 [GRCh38] Chr16:1254465 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495760]|Idiopathic generalized epilepsy [RCV001500234] |
Chr16:1217935 [GRCh38] Chr16:1267935 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3364-104A>G |
single nucleotide variant |
not provided [RCV001653335] |
Chr16:1208928 [GRCh38] Chr16:1258928 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1671C>G (p.Pro557=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001503742] |
Chr16:1202121 [GRCh38] Chr16:1252121 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5245-191G>C |
single nucleotide variant |
not provided [RCV001715221] |
Chr16:1216741 [GRCh38] Chr16:1266741 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2003-279C>T |
single nucleotide variant |
not provided [RCV001644048] |
Chr16:1203731 [GRCh38] Chr16:1253731 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4929+7_4929+8delinsTG |
indel |
Idiopathic generalized epilepsy [RCV001459116] |
Chr16:1213938..1213939 [GRCh38] Chr16:1263938..1263939 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-9C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001516511] |
Chr16:1201654 [GRCh38] Chr16:1251654 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4778-118G>T |
single nucleotide variant |
not provided [RCV001589581] |
Chr16:1213662 [GRCh38] Chr16:1263662 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002476819]|Idiopathic generalized epilepsy [RCV001517202] |
Chr16:1201839 [GRCh38] Chr16:1251839 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.312C>T (p.His104=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506528]|Idiopathic generalized epilepsy [RCV001452447] |
Chr16:1194984 [GRCh38] Chr16:1244984 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3364-52G>A |
single nucleotide variant |
not provided [RCV001589683] |
Chr16:1208980 [GRCh38] Chr16:1258980 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3855C>T (p.Val1285=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001483857] |
Chr16:1210379 [GRCh38] Chr16:1260379 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.823C>T (p.Leu275=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001477331]|Inborn genetic diseases [RCV002432335] |
Chr16:1200275 [GRCh38] Chr16:1250275 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5547C>T (p.Phe1849=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001460025] |
Chr16:1218311 [GRCh38] Chr16:1268311 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-8A>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495786]|Idiopathic generalized epilepsy [RCV001512287] |
Chr16:1200248 [GRCh38] Chr16:1250248 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3261C>T (p.Thr1087=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001463182] |
Chr16:1208119 [GRCh38] Chr16:1258119 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+247A>G |
single nucleotide variant |
not provided [RCV001647720] |
Chr16:1196270 [GRCh38] Chr16:1246270 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1120-3dup |
duplication |
CACNA1H-related condition [RCV003956146]|Idiopathic generalized epilepsy [RCV001512912] |
Chr16:1200706..1200707 [GRCh38] Chr16:1250706..1250707 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.803+163C>T |
single nucleotide variant |
not provided [RCV001613670] |
Chr16:1198937 [GRCh38] Chr16:1248937 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.981C>T (p.Ala327=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001456123] |
Chr16:1200433 [GRCh38] Chr16:1250433 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3495C>T (p.Ser1165=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001460402] |
Chr16:1209163 [GRCh38] Chr16:1259163 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.759T>C (p.Ala253=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001456247] |
Chr16:1198730 [GRCh38] Chr16:1248730 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-85T>A |
single nucleotide variant |
not provided [RCV001683831] |
Chr16:1194887 [GRCh38] Chr16:1244887 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1419G>A (p.Arg473=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001456693] |
Chr16:1201869 [GRCh38] Chr16:1251869 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4950G>A (p.Lys1650=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001453324] |
Chr16:1214992 [GRCh38] Chr16:1264992 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003771856]|not provided [RCV001703067] |
Chr16:1200440 [GRCh38] Chr16:1250440 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6819C>T (p.Leu2273=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001456675] |
Chr16:1220751 [GRCh38] Chr16:1270751 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-275G>T |
single nucleotide variant |
not provided [RCV001675183] |
Chr16:1213505 [GRCh38] Chr16:1263505 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2789+9A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001484886] |
Chr16:1206298 [GRCh38] Chr16:1256298 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2784C>T (p.Ile928=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001464076] |
Chr16:1206284 [GRCh38] Chr16:1256284 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1566T>C (p.His522=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001481331]|Inborn genetic diseases [RCV002405134] |
Chr16:1202016 [GRCh38] Chr16:1252016 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495647]|Idiopathic generalized epilepsy [RCV001454243] |
Chr16:1217000 [GRCh38] Chr16:1267000 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5118G>A (p.Ala1706=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001425228] |
Chr16:1215320 [GRCh38] Chr16:1265320 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2202C>G (p.Val734=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001499869] |
Chr16:1204209 [GRCh38] Chr16:1254209 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.545+10G>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506532]|Idiopathic generalized epilepsy [RCV001455238] |
Chr16:1195575 [GRCh38] Chr16:1245575 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001497703] |
Chr16:1200711 [GRCh38] Chr16:1250711 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2760G>A (p.Thr920=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001504606] |
Chr16:1206260 [GRCh38] Chr16:1256260 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.21C>A (p.Ala7=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001469991] |
Chr16:1153758 [GRCh38] Chr16:1203758 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488291]|Idiopathic generalized epilepsy [RCV001490520] |
Chr16:1207100 [GRCh38] Chr16:1257100 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2919G>A (p.Gln973=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001431402] |
Chr16:1207286 [GRCh38] Chr16:1257286 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=) |
single nucleotide variant |
CACNA1H-related condition [RCV003931111]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002501806]|Idiopathic generalized epilepsy [RCV001518657] |
Chr16:1201719 [GRCh38] Chr16:1251719 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4704G>A (p.Glu1568=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001458209] |
Chr16:1212083 [GRCh38] Chr16:1262083 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2871C>T (p.Phe957=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001513879] |
Chr16:1207082 [GRCh38] Chr16:1257082 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1617C>T (p.Pro539=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001502274] |
Chr16:1202067 [GRCh38] Chr16:1252067 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6255C>T (p.Ala2085=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001465673] |
Chr16:1220187 [GRCh38] Chr16:1270187 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.210C>G (p.Val70=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001504754] |
Chr16:1153947 [GRCh38] Chr16:1203947 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=) |
single nucleotide variant |
CACNA1H-related condition [RCV003931141]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002488339]|Idiopathic generalized epilepsy [RCV001523075] |
Chr16:1200763 [GRCh38] Chr16:1250763 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3618G>T (p.Pro1206=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001487869] |
Chr16:1209286 [GRCh38] Chr16:1259286 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.105G>A (p.Ala35=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001488018] |
Chr16:1153842 [GRCh38] Chr16:1203842 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5874C>T (p.Ala1958=) |
single nucleotide variant |
CACNA1H-related condition [RCV003956152]|Idiopathic generalized epilepsy [RCV001514123] |
Chr16:1218638 [GRCh38] Chr16:1268638 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495656]|Idiopathic generalized epilepsy [RCV001458639] |
Chr16:1209130 [GRCh38] Chr16:1259130 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4164C>T (p.Gly1388=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001464451] |
Chr16:1210912 [GRCh38] Chr16:1260912 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5445+10G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001465759] |
Chr16:1218050 [GRCh38] Chr16:1268050 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+9G>A |
single nucleotide variant |
CACNA1H-related condition [RCV003966057]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002506597]|Idiopathic generalized epilepsy [RCV001510515] |
Chr16:1209421 [GRCh38] Chr16:1259421 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5836C>T (p.Arg1946Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001514489] |
Chr16:1218600 [GRCh38] Chr16:1268600 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3036C>T (p.Ala1012=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001461421] |
Chr16:1207403 [GRCh38] Chr16:1257403 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.708G>T (p.Leu236=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001464557]|Inborn genetic diseases [RCV002368426] |
Chr16:1198679 [GRCh38] Chr16:1248679 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=) |
single nucleotide variant |
CACNA1H-related condition [RCV003965973]|Idiopathic generalized epilepsy [RCV001481817]|not provided [RCV003394075] |
Chr16:1207352 [GRCh38] Chr16:1257352 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.678G>A (p.Thr226=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001488776]|Inborn genetic diseases [RCV002368498] |
Chr16:1198649 [GRCh38] Chr16:1248649 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2556C>T (p.Tyr852=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001477557] |
Chr16:1205218 [GRCh38] Chr16:1255218 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2136T>C (p.Gly712=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001429386] |
Chr16:1204143 [GRCh38] Chr16:1254143 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.906C>T (p.Cys302=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001406455] |
Chr16:1200358 [GRCh38] Chr16:1250358 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501754]|Idiopathic generalized epilepsy [RCV001510630] |
Chr16:1209313 [GRCh38] Chr16:1259313 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1782C>T (p.Ala594=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001523585] |
Chr16:1202232 [GRCh38] Chr16:1252232 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5451G>A (p.Thr1817=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001425393] |
Chr16:1218215 [GRCh38] Chr16:1268215 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6258A>G (p.Pro2086=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001400001] |
Chr16:1220190 [GRCh38] Chr16:1270190 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001515301]|not provided [RCV001619916] |
Chr16:1210969 [GRCh38] Chr16:1260969 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.478C>T (p.Leu160=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001417741] |
Chr16:1195498 [GRCh38] Chr16:1245498 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3531C>T (p.Asp1177=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001419820] |
Chr16:1209199 [GRCh38] Chr16:1259199 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5073G>A (p.Leu1691=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001429851] |
Chr16:1215275 [GRCh38] Chr16:1265275 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002501644]|Idiopathic generalized epilepsy [RCV001476405] |
Chr16:1220595 [GRCh38] Chr16:1270595 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4445G>A (p.Arg1482Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001397943] |
Chr16:1211575 [GRCh38] Chr16:1261575 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4223+8G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001436506] |
Chr16:1210979 [GRCh38] Chr16:1260979 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2790-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001415887] |
Chr16:1206995 [GRCh38] Chr16:1256995 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2178C>T (p.Gly726=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001434566] |
Chr16:1204185 [GRCh38] Chr16:1254185 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4351-7C>T |
single nucleotide variant |
CACNA1H-related condition [RCV003908775]|Idiopathic generalized epilepsy [RCV001496799] |
Chr16:1211474 [GRCh38] Chr16:1261474 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4293G>A (p.Gly1431=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001503739] |
Chr16:1211237 [GRCh38] Chr16:1261237 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002495668]|Idiopathic generalized epilepsy [RCV001461693] |
Chr16:1218518 [GRCh38] Chr16:1268518 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5025G>C (p.Arg1675=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001432917] |
Chr16:1215067 [GRCh38] Chr16:1265067 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001453326]|not specified [RCV001527055] |
Chr16:1201966 [GRCh38] Chr16:1251966 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6456G>A (p.Glu2152=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001416416] |
Chr16:1220388 [GRCh38] Chr16:1270388 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488247]|Idiopathic generalized epilepsy [RCV001437206] |
Chr16:1211501 [GRCh38] Chr16:1261501 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.690C>T (p.Leu230=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001398844] |
Chr16:1198661 [GRCh38] Chr16:1248661 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2908-4C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001424079] |
Chr16:1207271 [GRCh38] Chr16:1257271 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1275G>A (p.Thr425=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001471968] |
Chr16:1201725 [GRCh38] Chr16:1251725 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4350+83G>A |
single nucleotide variant |
not provided [RCV001536752] |
Chr16:1211377 [GRCh38] Chr16:1261377 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3087G>A (p.Thr1029=) |
single nucleotide variant |
CACNA1H-related condition [RCV003900722]|Idiopathic generalized epilepsy [RCV001499718]|Inborn genetic diseases [RCV002324106] |
Chr16:1207793 [GRCh38] Chr16:1257793 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1965T>C (p.Asp655=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001428395]|Inborn genetic diseases [RCV002420964] |
Chr16:1202415 [GRCh38] Chr16:1252415 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1200C>T (p.Ile400=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001502813] |
Chr16:1200796 [GRCh38] Chr16:1250796 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1969T>C (p.Tyr657His) |
single nucleotide variant |
not provided [RCV002280556] |
Chr16:1202419 [GRCh38] Chr16:1252419 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2002+67T>C |
single nucleotide variant |
not provided [RCV002244361] |
Chr16:1202519 [GRCh38] Chr16:1252519 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4799A>G (p.Tyr1600Cys) |
single nucleotide variant |
not provided [RCV001755636] |
Chr16:1213801 [GRCh38] Chr16:1263801 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003772064]|not provided [RCV001755297] |
Chr16:1205124 [GRCh38] Chr16:1255124 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5905C>T (p.His1969Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002540699]|not provided [RCV001755594] |
Chr16:1218987 [GRCh38] Chr16:1268987 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1997A>T (p.Glu666Val) |
single nucleotide variant |
not provided [RCV001755539] |
Chr16:1202447 [GRCh38] Chr16:1252447 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478002]|Idiopathic generalized epilepsy [RCV003772099]|not provided [RCV001755696] |
Chr16:1195957 [GRCh38] Chr16:1245957 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482289]|not provided [RCV001755676] |
Chr16:1215282 [GRCh38] Chr16:1265282 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4651G>T (p.Val1551Leu) |
single nucleotide variant |
not provided [RCV001755542] |
Chr16:1212030 [GRCh38] Chr16:1262030 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4842C>A (p.Cys1614Ter) |
single nucleotide variant |
not provided [RCV001755600] |
Chr16:1213844 [GRCh38] Chr16:1263844 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1856C>G (p.Ser619Ter) |
single nucleotide variant |
not provided [RCV001755388] |
Chr16:1202306 [GRCh38] Chr16:1252306 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.803+187C>G |
single nucleotide variant |
not provided [RCV002244359] |
Chr16:1198961 [GRCh38] Chr16:1248961 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1759G>C (p.Glu587Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003275560] |
Chr16:1202209 [GRCh38] Chr16:1252209 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002488634]|not provided [RCV002254982] |
Chr16:1201724 [GRCh38] Chr16:1251724 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503246]|Idiopathic generalized epilepsy [RCV003772078]|Inborn genetic diseases [RCV002544178]|not provided [RCV001759043] |
Chr16:1209222 [GRCh38] Chr16:1259222 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003772079]|not provided [RCV001759062] |
Chr16:1217925 [GRCh38] Chr16:1267925 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002544224]|not provided [RCV001777006] |
Chr16:1200545 [GRCh38] Chr16:1250545 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4390A>T (p.Thr1464Ser) |
single nucleotide variant |
not provided [RCV001776441] |
Chr16:1211520 [GRCh38] Chr16:1261520 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3019T>C (p.Phe1007Leu) |
single nucleotide variant |
not provided [RCV001752996] |
Chr16:1207386 [GRCh38] Chr16:1257386 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6530C>T (p.Pro2177Leu) |
single nucleotide variant |
not provided [RCV001753257] |
Chr16:1220462 [GRCh38] Chr16:1270462 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6571T>C (p.Cys2191Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003163903]|not provided [RCV001768385] |
Chr16:1220503 [GRCh38] Chr16:1270503 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001868730]|Inborn genetic diseases [RCV002540682]|not provided [RCV001753346] |
Chr16:1201871 [GRCh38] Chr16:1251871 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001868755]|not provided [RCV001753384] |
Chr16:1200477 [GRCh38] Chr16:1250477 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1171C>T (p.His391Tyr) |
single nucleotide variant |
not provided [RCV001776341] |
Chr16:1200767 [GRCh38] Chr16:1250767 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.742G>A (p.Gly248Ser) |
single nucleotide variant |
not provided [RCV001768278] |
Chr16:1198713 [GRCh38] Chr16:1248713 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1609_1617del (p.Arg537_Pro539del) |
deletion |
not provided [RCV001768341] |
Chr16:1202056..1202064 [GRCh38] Chr16:1252056..1252064 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2371G>T (p.Asp791Tyr) |
single nucleotide variant |
not provided [RCV001769555] |
Chr16:1204378 [GRCh38] Chr16:1254378 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1988T>C (p.Val663Ala) |
single nucleotide variant |
not provided [RCV001757693] |
Chr16:1202438 [GRCh38] Chr16:1252438 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6299A>T (p.Glu2100Val) |
single nucleotide variant |
not provided [RCV001766220] |
Chr16:1220231 [GRCh38] Chr16:1270231 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489833]|Idiopathic generalized epilepsy [RCV001885204]|Inborn genetic diseases [RCV002544303]|not provided [RCV001786910] |
Chr16:1212090 [GRCh38] Chr16:1262090 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506843]|Hyperaldosteronism, familial, type IV [RCV001809238]|Idiopathic generalized epilepsy [RCV002542445] |
Chr16:1213909 [GRCh38] Chr16:1263909 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6928C>T (p.Pro2310Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001944953] |
Chr16:1220860 [GRCh38] Chr16:1270860 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.643+44G>A |
single nucleotide variant |
not provided [RCV001787455] |
Chr16:1196067 [GRCh38] Chr16:1246067 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs) |
duplication |
Idiopathic generalized epilepsy [RCV002540628]|not provided [RCV001757448] |
Chr16:1220652..1220653 [GRCh38] Chr16:1270652..1270653 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001868672]|not provided [RCV001757292] |
Chr16:1210425 [GRCh38] Chr16:1260425 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6713C>G (p.Ser2238Ter) |
single nucleotide variant |
not provided [RCV001757539] |
Chr16:1220645 [GRCh38] Chr16:1270645 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3454C>G (p.Pro1152Ala) |
single nucleotide variant |
not provided [RCV001757540] |
Chr16:1209122 [GRCh38] Chr16:1259122 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5791A>T (p.Ser1931Cys) |
single nucleotide variant |
not provided [RCV001757747] |
Chr16:1218555 [GRCh38] Chr16:1268555 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2041G>T (p.Val681Leu) |
single nucleotide variant |
not provided [RCV001776842] |
Chr16:1204048 [GRCh38] Chr16:1254048 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6570del (p.Cys2191fs) |
deletion |
not provided [RCV001776949] |
Chr16:1220496 [GRCh38] Chr16:1270496 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1142T>G (p.Val381Gly) |
single nucleotide variant |
not provided [RCV001777026] |
Chr16:1200738 [GRCh38] Chr16:1250738 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1127C>T (p.Thr376Met) |
single nucleotide variant |
not provided [RCV001757530] |
Chr16:1200723 [GRCh38] Chr16:1250723 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.546-142C>T |
single nucleotide variant |
not provided [RCV001776941] |
Chr16:1195784 [GRCh38] Chr16:1245784 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2426G>A (p.Ser809Asn) |
single nucleotide variant |
not provided [RCV001777008] |
Chr16:1204433 [GRCh38] Chr16:1254433 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2573A>T (p.Asn858Ile) |
single nucleotide variant |
not provided [RCV001759047] |
Chr16:1205235 [GRCh38] Chr16:1255235 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4485G>A (p.Met1495Ile) |
single nucleotide variant |
not provided [RCV001759010] |
Chr16:1211724 [GRCh38] Chr16:1261724 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479617]|Idiopathic generalized epilepsy [RCV001964255] |
Chr16:1219022 [GRCh38] Chr16:1269022 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val) |
single nucleotide variant |
CACNA1H-related condition [RCV003407963]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002507592]|Idiopathic generalized epilepsy [RCV001929148] |
Chr16:1208072 [GRCh38] Chr16:1258072 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001950356] |
Chr16:1210485 [GRCh38] Chr16:1260485 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484681]|Idiopathic generalized epilepsy [RCV001948693] |
Chr16:1210134 [GRCh38] Chr16:1260134 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3845+7C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497896]|Idiopathic generalized epilepsy [RCV001965916] |
Chr16:1210142 [GRCh38] Chr16:1260142 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002008206]|Inborn genetic diseases [RCV003348717] |
Chr16:1200399 [GRCh38] Chr16:1250399 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2806C>T (p.Leu936Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001895679] |
Chr16:1207017 [GRCh38] Chr16:1257017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503478]|Idiopathic generalized epilepsy [RCV001895706] |
Chr16:1202285 [GRCh38] Chr16:1252285 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4106G>A (p.Gly1369Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002025396] |
Chr16:1210854 [GRCh38] Chr16:1260854 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5788G>A (p.Asp1930Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001915351] |
Chr16:1218552 [GRCh38] Chr16:1268552 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3846-12_3846-7del |
microsatellite |
Idiopathic generalized epilepsy [RCV001929045] |
Chr16:1210351..1210356 [GRCh38] Chr16:1260351..1260356 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4929+4G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002021937] |
Chr16:1213935 [GRCh38] Chr16:1263935 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4303C>T (p.Leu1435Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002044907] |
Chr16:1211247 [GRCh38] Chr16:1261247 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002025237]|not provided [RCV003322910] |
Chr16:1201778 [GRCh38] Chr16:1251778 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1546C>A (p.His516Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002008731] |
Chr16:1201996 [GRCh38] Chr16:1251996 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2845G>A (p.Asp949Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002044681] |
Chr16:1207056 [GRCh38] Chr16:1257056 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482449]|Idiopathic generalized epilepsy [RCV001863509] |
Chr16:1202083 [GRCh38] Chr16:1252083 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.465G>T (p.Met155Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001971410] |
Chr16:1195485 [GRCh38] Chr16:1245485 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4038+5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001896830] |
Chr16:1210656 [GRCh38] Chr16:1260656 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507692]|Idiopathic generalized epilepsy [RCV002004976] |
Chr16:1220872 [GRCh38] Chr16:1270872 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001926934]|Inborn genetic diseases [RCV002560507] |
Chr16:1202363 [GRCh38] Chr16:1252363 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2593G>A (p.Val865Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001864144] |
Chr16:1205255 [GRCh38] Chr16:1255255 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.895A>T (p.Met299Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001988317] |
Chr16:1200347 [GRCh38] Chr16:1250347 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2977C>G (p.Leu993Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001971619] |
Chr16:1207344 [GRCh38] Chr16:1257344 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001988680]|not provided [RCV003738122] |
Chr16:1210837 [GRCh38] Chr16:1260837 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6581_6583del (p.Val2194del) |
deletion |
Idiopathic generalized epilepsy [RCV002008551] |
Chr16:1220511..1220513 [GRCh38] Chr16:1270511..1270513 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2403G>A (p.Met801Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001874358] |
Chr16:1204410 [GRCh38] Chr16:1254410 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507595]|Idiopathic generalized epilepsy [RCV001929436] |
Chr16:1153970 [GRCh38] Chr16:1203970 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5428T>C (p.Trp1810Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001971772] |
Chr16:1218023 [GRCh38] Chr16:1268023 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001839120]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002489896]|Idiopathic generalized epilepsy [RCV002542822] |
Chr16:1201673 [GRCh38] Chr16:1251673 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2312A>G (p.Glu771Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001949019] |
Chr16:1204319 [GRCh38] Chr16:1254319 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.263G>A (p.Arg88Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002025073] |
Chr16:1154000 [GRCh38] Chr16:1204000 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.230C>T (p.Ala77Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001863947] |
Chr16:1153967 [GRCh38] Chr16:1203967 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1006G>A (p.Ala336Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001915446] |
Chr16:1200458 [GRCh38] Chr16:1250458 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486549]|Idiopathic generalized epilepsy [RCV001988598] |
Chr16:1201793 [GRCh38] Chr16:1251793 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1284G>T (p.Arg428=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001947975]|Inborn genetic diseases [RCV002386725] |
Chr16:1201734 [GRCh38] Chr16:1251734 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492084]|Idiopathic generalized epilepsy [RCV001987990] |
Chr16:1206168 [GRCh38] Chr16:1256168 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506975]|Idiopathic generalized epilepsy [RCV001896276] |
Chr16:1218601 [GRCh38] Chr16:1268601 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1177T>C (p.Phe393Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002024087] |
Chr16:1200773 [GRCh38] Chr16:1250773 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491929]|Idiopathic generalized epilepsy [RCV001929055] |
Chr16:1220189 [GRCh38] Chr16:1270189 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2451+4C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001870945] |
Chr16:1204462 [GRCh38] Chr16:1254462 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484863]|Idiopathic generalized epilepsy [RCV001966800] |
Chr16:1209069 [GRCh38] Chr16:1259069 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507590]|Idiopathic generalized epilepsy [RCV001929063]|Inborn genetic diseases [RCV003348634] |
Chr16:1220177 [GRCh38] Chr16:1270177 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478240]|Idiopathic generalized epilepsy [RCV001896015] |
Chr16:1211788 [GRCh38] Chr16:1261788 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6583G>A (p.Glu2195Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001914678] |
Chr16:1220515 [GRCh38] Chr16:1270515 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002008031]|not provided [RCV003235643] |
Chr16:1220141 [GRCh38] Chr16:1270141 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5323+12C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001896327] |
Chr16:1217022 [GRCh38] Chr16:1267022 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1084G>A (p.Asp362Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001928820] |
Chr16:1200536 [GRCh38] Chr16:1250536 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5830C>T (p.His1944Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001946053] |
Chr16:1218594 [GRCh38] Chr16:1268594 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4345G>A (p.Val1449Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002024610] |
Chr16:1211289 [GRCh38] Chr16:1261289 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2129C>T (p.Pro710Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001949748] |
Chr16:1204136 [GRCh38] Chr16:1254136 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1245G>A (p.Leu415=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001984223] |
Chr16:1201695 [GRCh38] Chr16:1251695 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1705G>A (p.Ala569Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001948735] |
Chr16:1202155 [GRCh38] Chr16:1252155 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3750C>G (p.Cys1250Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002023247] |
Chr16:1210040 [GRCh38] Chr16:1260040 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498028]|Idiopathic generalized epilepsy [RCV002020477] |
Chr16:1201849 [GRCh38] Chr16:1251849 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5090C>T (p.Thr1697Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002003852] |
Chr16:1215292 [GRCh38] Chr16:1265292 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2247G>A (p.Thr749=) |
single nucleotide variant |
CACNA1H-related condition [RCV003978429]|Idiopathic generalized epilepsy [RCV001967846] |
Chr16:1204254 [GRCh38] Chr16:1254254 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.836A>G (p.Tyr279Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002006515] |
Chr16:1200288 [GRCh38] Chr16:1250288 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489933]|Idiopathic generalized epilepsy [RCV002041901] |
Chr16:1220141 [GRCh38] Chr16:1270141 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1386G>C (p.Lys462Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002004055] |
Chr16:1201836 [GRCh38] Chr16:1251836 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3517G>A (p.Gly1173Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002004250] |
Chr16:1209185 [GRCh38] Chr16:1259185 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2132A>G (p.Glu711Gly) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001839405]|Inborn genetic diseases [RCV002543259] |
Chr16:1204139 [GRCh38] Chr16:1254139 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001946191] |
Chr16:1209194 [GRCh38] Chr16:1259194 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2908-18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002002127] |
Chr16:1207257 [GRCh38] Chr16:1257257 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5068C>G (p.Leu1690Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002004534] |
Chr16:1215270 [GRCh38] Chr16:1265270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4008G>A (p.Thr1336=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001945820] |
Chr16:1210621 [GRCh38] Chr16:1260621 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2203C>G (p.Arg735Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002022586] |
Chr16:1204210 [GRCh38] Chr16:1254210 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001946392] |
Chr16:1153810 [GRCh38] Chr16:1203810 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1198A>G (p.Ile400Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001984379] |
Chr16:1200794 [GRCh38] Chr16:1250794 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2565C>G (p.Asn855Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002003408] |
Chr16:1205227 [GRCh38] Chr16:1255227 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503487]|Idiopathic generalized epilepsy [RCV001871514] |
Chr16:1211971 [GRCh38] Chr16:1261971 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1928C>G (p.Thr643Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001907743] |
Chr16:1202378 [GRCh38] Chr16:1252378 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497910]|Idiopathic generalized epilepsy [RCV001968803] |
Chr16:1220110 [GRCh38] Chr16:1270110 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002024002]|not specified [RCV003987959] |
Chr16:1210444 [GRCh38] Chr16:1260444 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002024287] |
Chr16:1153877 [GRCh38] Chr16:1203877 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.424T>C (p.Phe142Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001870865] |
Chr16:1195444 [GRCh38] Chr16:1245444 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.662C>T (p.Thr221Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001890959] |
Chr16:1198633 [GRCh38] Chr16:1248633 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479543]|Idiopathic generalized epilepsy [RCV001987522] |
Chr16:1218002 [GRCh38] Chr16:1268002 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002266040]|Idiopathic generalized epilepsy [RCV001863354] |
Chr16:1198692 [GRCh38] Chr16:1248692 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1790C>T (p.Thr597Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001970440] |
Chr16:1202240 [GRCh38] Chr16:1252240 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3889G>C (p.Asp1297His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001983202] |
Chr16:1210413 [GRCh38] Chr16:1260413 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3613C>T (p.Arg1205Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002020398] |
Chr16:1209281 [GRCh38] Chr16:1259281 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV001839218]|Idiopathic generalized epilepsy [RCV002034708] |
Chr16:1218999 [GRCh38] Chr16:1268999 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2090T>G (p.Leu697Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002041697] |
Chr16:1204097 [GRCh38] Chr16:1254097 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478098]|Idiopathic generalized epilepsy [RCV002044294]|Inborn genetic diseases [RCV002545347] |
Chr16:1200258 [GRCh38] Chr16:1250258 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3867G>C (p.Lys1289Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001914008] |
Chr16:1210391 [GRCh38] Chr16:1260391 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001895334]|not provided [RCV003324835] |
Chr16:1200329 [GRCh38] Chr16:1250329 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001863371] |
Chr16:1210893 [GRCh38] Chr16:1260893 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5364C>G (p.His1788Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002020693] |
Chr16:1217959 [GRCh38] Chr16:1267959 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001946138] |
Chr16:1153885 [GRCh38] Chr16:1203885 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002023222] |
Chr16:1201733 [GRCh38] Chr16:1251733 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002227564]|Idiopathic generalized epilepsy [RCV001892898] |
Chr16:1202035 [GRCh38] Chr16:1252035 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1012A>G (p.Ile338Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001948552] |
Chr16:1200464 [GRCh38] Chr16:1250464 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2540G>A (p.Cys847Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002006001] |
Chr16:1205202 [GRCh38] Chr16:1255202 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1401A>G (p.Ile467Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002002599] |
Chr16:1201851 [GRCh38] Chr16:1251851 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486561]|Idiopathic generalized epilepsy [RCV001986298]|Inborn genetic diseases [RCV003264373] |
Chr16:1208172 [GRCh38] Chr16:1258172 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2992C>T (p.Leu998Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001987065] |
Chr16:1207359 [GRCh38] Chr16:1257359 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1332C>G (p.Asp444Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002024474] |
Chr16:1201782 [GRCh38] Chr16:1251782 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4795T>C (p.Tyr1599His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507003]|Idiopathic generalized epilepsy [RCV001908736] |
Chr16:1213797 [GRCh38] Chr16:1263797 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.7057G>T (p.Val2353Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001987102] |
Chr16:1220989 [GRCh38] Chr16:1270989 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478094]|Idiopathic generalized epilepsy [RCV002044126] |
Chr16:1209036 [GRCh38] Chr16:1259036 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001863272] |
Chr16:1202108 [GRCh38] Chr16:1252108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479487]|Hyperaldosteronism, familial, type IV [RCV003146379]|Idiopathic generalized epilepsy [RCV001967588] |
Chr16:1213873 [GRCh38] Chr16:1263873 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2986G>A (p.Val996Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001911766] |
Chr16:1207353 [GRCh38] Chr16:1257353 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1094G>T (p.Gly365Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001985689] |
Chr16:1200546 [GRCh38] Chr16:1250546 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2026C>A (p.Leu676Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001986413] |
Chr16:1204033 [GRCh38] Chr16:1254033 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482776]|Idiopathic generalized epilepsy [RCV001911392] |
Chr16:1220731 [GRCh38] Chr16:1270731 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002497824]|Idiopathic generalized epilepsy [RCV001969802]|Inborn genetic diseases [RCV002562816] |
Chr16:1218244 [GRCh38] Chr16:1268244 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1859G>A (p.Gly620Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001895541] |
Chr16:1202309 [GRCh38] Chr16:1252309 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482650]|Idiopathic generalized epilepsy [RCV001890624] |
Chr16:1211726 [GRCh38] Chr16:1261726 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5040-3C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484508]|Idiopathic generalized epilepsy [RCV001947858] |
Chr16:1215239 [GRCh38] Chr16:1265239 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4939G>A (p.Glu1647Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001893141] |
Chr16:1214981 [GRCh38] Chr16:1264981 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002041961]|Inborn genetic diseases [RCV002545678] |
Chr16:1219086 [GRCh38] Chr16:1269086 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1119+13A>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002042748] |
Chr16:1200584 [GRCh38] Chr16:1250584 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503403]|Idiopathic generalized epilepsy [RCV001872151] |
Chr16:1196005 [GRCh38] Chr16:1246005 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6185C>T (p.Pro2062Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001891164] |
Chr16:1220117 [GRCh38] Chr16:1270117 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5582A>G (p.Lys1861Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002022993] |
Chr16:1218346 [GRCh38] Chr16:1268346 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5609C>T (p.Ala1870Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001908185] |
Chr16:1218373 [GRCh38] Chr16:1268373 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001945875] |
Chr16:1200806 [GRCh38] Chr16:1250806 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482777]|Idiopathic generalized epilepsy [RCV001911401] |
Chr16:1219032 [GRCh38] Chr16:1269032 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002023503]|Inborn genetic diseases [RCV003289394] |
Chr16:1220278 [GRCh38] Chr16:1270278 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3238A>C (p.Thr1080Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002023742] |
Chr16:1208096 [GRCh38] Chr16:1258096 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492046]|Idiopathic generalized epilepsy [RCV001967916] |
Chr16:1207321 [GRCh38] Chr16:1257321 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3260C>G (p.Thr1087Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001910042] |
Chr16:1208118 [GRCh38] Chr16:1258118 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85880-1468828) |
copy number loss |
not specified [RCV002052500] |
Chr16:85880..1468828 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.3723G>T (p.Glu1241Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001984530] |
Chr16:1209391 [GRCh38] Chr16:1259391 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2279A>C (p.Gln760Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002040622] |
Chr16:1204286 [GRCh38] Chr16:1254286 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5173+9C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486558]|Idiopathic generalized epilepsy [RCV001983786] |
Chr16:1215384 [GRCh38] Chr16:1265384 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5822C>G (p.Ser1941Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002037589] |
Chr16:1218586 [GRCh38] Chr16:1268586 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1007C>T (p.Ala336Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001963683] |
Chr16:1200459 [GRCh38] Chr16:1250459 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1033A>G (p.Asn345Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001884133] |
Chr16:1200485 [GRCh38] Chr16:1250485 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492087]|Idiopathic generalized epilepsy [RCV001996787] |
Chr16:1196014 [GRCh38] Chr16:1246014 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.622C>T (p.Arg208Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002017460] |
Chr16:1196002 [GRCh38] Chr16:1246002 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4958A>G (p.Asn1653Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001982252] |
Chr16:1215000 [GRCh38] Chr16:1265000 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479725]|Hyperaldosteronism, familial, type IV [RCV003146470]|Idiopathic generalized epilepsy [RCV002010338] |
Chr16:1215267 [GRCh38] Chr16:1265267 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5920G>A (p.Glu1974Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001916496] |
Chr16:1219002 [GRCh38] Chr16:1269002 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490203]|Idiopathic generalized epilepsy [RCV001935057] |
Chr16:1202388 [GRCh38] Chr16:1252388 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4930-7C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001923815] |
Chr16:1214965 [GRCh38] Chr16:1264965 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3987C>A (p.Ser1329Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001962426] |
Chr16:1210600 [GRCh38] Chr16:1260600 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5539_5556dup (p.Ala1847_Val1852dup) |
duplication |
Idiopathic generalized epilepsy [RCV001944446] |
Chr16:1218290..1218291 [GRCh38] Chr16:1268290..1268291 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3064-19T>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002010429] |
Chr16:1207751 [GRCh38] Chr16:1257751 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478180]|Idiopathic generalized epilepsy [RCV001899203] |
Chr16:1220320 [GRCh38] Chr16:1270320 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484703]|Idiopathic generalized epilepsy [RCV001936696] |
Chr16:1220612 [GRCh38] Chr16:1270612 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2790-24_2790-2del |
deletion |
Idiopathic generalized epilepsy [RCV002037137] |
Chr16:1206968..1206990 [GRCh38] Chr16:1256968..1256990 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478155]|Idiopathic generalized epilepsy [RCV001944575] |
Chr16:1202411 [GRCh38] Chr16:1252411 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs) |
deletion |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491991]|Idiopathic generalized epilepsy [RCV001959879] |
Chr16:1202307..1202308 [GRCh38] Chr16:1252307..1252308 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4760-1G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001980773] |
Chr16:1212510 [GRCh38] Chr16:1262510 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484740]|Idiopathic generalized epilepsy [RCV001982480] |
Chr16:1195503 [GRCh38] Chr16:1245503 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1789_1794del (p.Thr597_Ala598del) |
deletion |
Idiopathic generalized epilepsy [RCV001933923] |
Chr16:1202236..1202241 [GRCh38] Chr16:1252236..1252241 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3310C>T (p.Arg1104Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002050917] |
Chr16:1208168 [GRCh38] Chr16:1258168 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3907T>C (p.Phe1303Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002016050] |
Chr16:1210431 [GRCh38] Chr16:1260431 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3388G>A (p.Ala1130Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001981801]|Inborn genetic diseases [RCV003250334] |
Chr16:1209056 [GRCh38] Chr16:1259056 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482752]|Idiopathic generalized epilepsy [RCV001887311] |
Chr16:1220464 [GRCh38] Chr16:1270464 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4760-2A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001931345] |
Chr16:1212509 [GRCh38] Chr16:1262509 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4223+6G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001953241] |
Chr16:1210977 [GRCh38] Chr16:1260977 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482482]|Idiopathic generalized epilepsy [RCV001880623]|Inborn genetic diseases [RCV003247059] |
Chr16:1208196 [GRCh38] Chr16:1258196 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2452-3C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001944318] |
Chr16:1205111 [GRCh38] Chr16:1255111 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4224-6C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001898248] |
Chr16:1211162 [GRCh38] Chr16:1261162 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2947G>A (p.Gly983Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001899491] |
Chr16:1207314 [GRCh38] Chr16:1257314 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6048+2_6048+5del |
deletion |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482588]|Idiopathic generalized epilepsy [RCV001880773] |
Chr16:1219129..1219132 [GRCh38] Chr16:1269129..1269132 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2557A>G (p.Ile853Val) |
single nucleotide variant |
CACNA1H-related condition [RCV003984124]|Idiopathic generalized epilepsy [RCV002037262] |
Chr16:1205219 [GRCh38] Chr16:1255219 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6208C>G (p.Arg2070Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002000936] |
Chr16:1220140 [GRCh38] Chr16:1270140 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1820G>A (p.Gly607Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001975780] |
Chr16:1202270 [GRCh38] Chr16:1252270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6587C>G (p.Pro2196Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001937407] |
Chr16:1220519 [GRCh38] Chr16:1270519 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482792]|Idiopathic generalized epilepsy [RCV001939762] |
Chr16:1200755 [GRCh38] Chr16:1250755 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479756]|Idiopathic generalized epilepsy [RCV002038272] |
Chr16:1220736 [GRCh38] Chr16:1270736 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001864916] |
Chr16:1209231 [GRCh38] Chr16:1259231 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2498C>T (p.Thr833Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001888784] |
Chr16:1205160 [GRCh38] Chr16:1255160 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479822]|Idiopathic generalized epilepsy [RCV002048801] |
Chr16:1200294 [GRCh38] Chr16:1250294 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3857C>T (p.Ser1286Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002013744] |
Chr16:1210381 [GRCh38] Chr16:1260381 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4777+5C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002033556] |
Chr16:1212533 [GRCh38] Chr16:1262533 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2686C>T (p.Arg896Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001958385] |
Chr16:1206186 [GRCh38] Chr16:1256186 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del) |
microsatellite |
Idiopathic generalized epilepsy [RCV001888792] |
Chr16:1195475..1195477 [GRCh38] Chr16:1245475..1245477 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1201C>G (p.Leu401Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001878255] |
Chr16:1200797 [GRCh38] Chr16:1250797 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4370A>T (p.Tyr1457Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002050201] |
Chr16:1211500 [GRCh38] Chr16:1261500 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.922C>T (p.Arg308Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001981066] |
Chr16:1200374 [GRCh38] Chr16:1250374 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2560C>T (p.Arg854Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001962724] |
Chr16:1205222 [GRCh38] Chr16:1255222 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5198C>T (p.Thr1733Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002039225] |
Chr16:1215547 [GRCh38] Chr16:1265547 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5059G>A (p.Ala1687Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001885691] |
Chr16:1215261 [GRCh38] Chr16:1265261 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4688A>G (p.Gln1563Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002037392] |
Chr16:1212067 [GRCh38] Chr16:1262067 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001972241] |
Chr16:1153777 [GRCh38] Chr16:1203777 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484455]|Idiopathic generalized epilepsy [RCV001916069] |
Chr16:1218367 [GRCh38] Chr16:1268367 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002011253]|Inborn genetic diseases [RCV003382799] |
Chr16:1220969 [GRCh38] Chr16:1270969 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1213-18C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001885772] |
Chr16:1201645 [GRCh38] Chr16:1251645 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6274G>A (p.Glu2092Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001887577] |
Chr16:1220206 [GRCh38] Chr16:1270206 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3391C>G (p.Pro1131Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002038398] |
Chr16:1209059 [GRCh38] Chr16:1259059 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6013C>A (p.Arg2005Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001943630] |
Chr16:1219095 [GRCh38] Chr16:1269095 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4944C>A (p.Ala1648=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001951423] |
Chr16:1214986 [GRCh38] Chr16:1264986 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1968C>G (p.Pro656=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001930832] |
Chr16:1202418 [GRCh38] Chr16:1252418 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1880G>A (p.Ser627Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002036965] |
Chr16:1202330 [GRCh38] Chr16:1252330 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6971T>G (p.Leu2324Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001962335] |
Chr16:1220903 [GRCh38] Chr16:1270903 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002013998]|not provided [RCV002275284] |
Chr16:1220314 [GRCh38] Chr16:1270314 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2258G>C (p.Gly753Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001955496] |
Chr16:1204265 [GRCh38] Chr16:1254265 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001900544] |
Chr16:1218536 [GRCh38] Chr16:1268536 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4278_4279inv (p.Leu1427Phe) |
inversion |
Idiopathic generalized epilepsy [RCV001882194] |
Chr16:1211222..1211223 [GRCh38] Chr16:1261222..1261223 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.884G>T (p.Arg295Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002028176] |
Chr16:1200336 [GRCh38] Chr16:1250336 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482439]|Idiopathic generalized epilepsy [RCV002049253] |
Chr16:1153912 [GRCh38] Chr16:1203912 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2677A>G (p.Lys893Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002012893] |
Chr16:1206177 [GRCh38] Chr16:1256177 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1538C>T (p.Ser513Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001919276] |
Chr16:1201988 [GRCh38] Chr16:1251988 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1955A>T (p.Asn652Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001935760] |
Chr16:1202405 [GRCh38] Chr16:1252405 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498082]|Idiopathic generalized epilepsy [RCV002031499] |
Chr16:1204121 [GRCh38] Chr16:1254121 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001903074]|Inborn genetic diseases [RCV003375413] |
Chr16:1198711 [GRCh38] Chr16:1248711 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5888-16T>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507019]|Idiopathic generalized epilepsy [RCV001937653] |
Chr16:1218954 [GRCh38] Chr16:1268954 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.7034C>T (p.Pro2345Leu) |
single nucleotide variant |
CACNA1H-related condition [RCV003892947]|Idiopathic generalized epilepsy [RCV001916516] |
Chr16:1220966 [GRCh38] Chr16:1270966 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503454]|Idiopathic generalized epilepsy [RCV001902541] |
Chr16:1220594 [GRCh38] Chr16:1270594 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NC_000016.9:g.(?_256302)_(5971108_?)dup |
duplication |
Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] |
Chr16:256302..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484603]|Idiopathic generalized epilepsy [RCV001933832] |
Chr16:1220090 [GRCh38] Chr16:1270090 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503615]|Idiopathic generalized epilepsy [RCV001916720] |
Chr16:1220246 [GRCh38] Chr16:1270246 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492349]|Idiopathic generalized epilepsy [RCV002016304] |
Chr16:1201876 [GRCh38] Chr16:1251876 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6056T>C (p.Val2019Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001954355] |
Chr16:1219988 [GRCh38] Chr16:1269988 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs) |
microsatellite |
Idiopathic generalized epilepsy [RCV001880302] |
Chr16:1202163..1202164 [GRCh38] Chr16:1252163..1252164 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486623]|Idiopathic generalized epilepsy [RCV002013154] |
Chr16:1207110 [GRCh38] Chr16:1257110 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.785T>C (p.Leu262Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001935137] |
Chr16:1198756 [GRCh38] Chr16:1248756 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.450G>T (p.Glu150Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001919421] |
Chr16:1195470 [GRCh38] Chr16:1245470 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5291C>T (p.Ala1764Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001935284] |
Chr16:1216978 [GRCh38] Chr16:1266978 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484565]|Idiopathic generalized epilepsy [RCV001919572] |
Chr16:1218975 [GRCh38] Chr16:1268975 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002031604] |
Chr16:1207017 [GRCh38] Chr16:1257017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4288A>T (p.Ile1430Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001898211] |
Chr16:1211232 [GRCh38] Chr16:1261232 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5473G>A (p.Asp1825Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002010784] |
Chr16:1218237 [GRCh38] Chr16:1268237 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4038+6G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503558]|Idiopathic generalized epilepsy [RCV001935270] |
Chr16:1210657 [GRCh38] Chr16:1260657 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244952)_(1270994_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001956026] |
Chr16:1244952..1270994 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002489914]|Idiopathic generalized epilepsy [RCV002030130] |
Chr16:1154036 [GRCh38] Chr16:1204036 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3906C>G (p.Val1302=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001957831] |
Chr16:1210430 [GRCh38] Chr16:1260430 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3721G>A (p.Glu1241Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001875182] |
Chr16:1209389 [GRCh38] Chr16:1259389 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3770T>C (p.Val1257Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002027427] |
Chr16:1210060 [GRCh38] Chr16:1260060 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6881C>T (p.Ala2294Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002013683] |
Chr16:1220813 [GRCh38] Chr16:1270813 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5494C>G (p.Leu1832Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001922048] |
Chr16:1218258 [GRCh38] Chr16:1268258 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.718G>C (p.Val240Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002033043] |
Chr16:1198689 [GRCh38] Chr16:1248689 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3064-6G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001953538] |
Chr16:1207764 [GRCh38] Chr16:1257764 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1733C>T (p.Ala578Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001875348] |
Chr16:1202183 [GRCh38] Chr16:1252183 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3969+1G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001897256] |
Chr16:1210494 [GRCh38] Chr16:1260494 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484431]|Idiopathic generalized epilepsy [RCV001918481] |
Chr16:1206156 [GRCh38] Chr16:1256156 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001935503] |
Chr16:1200346 [GRCh38] Chr16:1250346 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu) |
indel |
Idiopathic generalized epilepsy [RCV001864908] |
Chr16:1220075..1220076 [GRCh38] Chr16:1270075..1270076 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484490]|Idiopathic generalized epilepsy [RCV001930465] |
Chr16:1209233 [GRCh38] Chr16:1259233 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3854T>A (p.Val1285Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001865038] |
Chr16:1210378 [GRCh38] Chr16:1260378 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1520C>T (p.Ala507Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001879455] |
Chr16:1201970 [GRCh38] Chr16:1251970 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6855C>A (p.Ser2285Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001973517] |
Chr16:1220787 [GRCh38] Chr16:1270787 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6813G>A (p.Leu2271=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001957369] |
Chr16:1220745 [GRCh38] Chr16:1270745 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6595G>A (p.Glu2199Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001958006] |
Chr16:1220527 [GRCh38] Chr16:1270527 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484887]|Idiopathic generalized epilepsy [RCV001976094] |
Chr16:1153778 [GRCh38] Chr16:1203778 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1690C>T (p.Arg564Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001904146] |
Chr16:1202140 [GRCh38] Chr16:1252140 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4904C>T (p.Ser1635Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002029029] |
Chr16:1213906 [GRCh38] Chr16:1263906 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3614G>T (p.Arg1205Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001955165] |
Chr16:1209282 [GRCh38] Chr16:1259282 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5155G>A (p.Val1719Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001976161] |
Chr16:1215357 [GRCh38] Chr16:1265357 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484652]|Idiopathic generalized epilepsy [RCV001952728] |
Chr16:1196017 [GRCh38] Chr16:1246017 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.577G>T (p.Val193Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001974905] |
Chr16:1195957 [GRCh38] Chr16:1245957 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482810]|Idiopathic generalized epilepsy [RCV001898877] |
Chr16:1220321 [GRCh38] Chr16:1270321 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.453G>A (p.Met151Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001916298] |
Chr16:1195473 [GRCh38] Chr16:1245473 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2475G>A (p.Leu825=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001979069] |
Chr16:1205137 [GRCh38] Chr16:1255137 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5674C>A (p.Arg1892Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001989511] |
Chr16:1218438 [GRCh38] Chr16:1268438 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3114C>G (p.Phe1038Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001901568] |
Chr16:1207820 [GRCh38] Chr16:1257820 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1982C>T (p.Pro661Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002026742] |
Chr16:1202432 [GRCh38] Chr16:1252432 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479774]|Idiopathic generalized epilepsy [RCV002014246] |
Chr16:1211595 [GRCh38] Chr16:1261595 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1700C>T (p.Pro567Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002050664] |
Chr16:1202150 [GRCh38] Chr16:1252150 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1763G>C (p.Arg588Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001904547] |
Chr16:1202213 [GRCh38] Chr16:1252213 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486573]|Idiopathic generalized epilepsy [RCV001981171] |
Chr16:1200351 [GRCh38] Chr16:1250351 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001920544] |
Chr16:1200549 [GRCh38] Chr16:1250549 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001935157] |
Chr16:1212133 [GRCh38] Chr16:1262133 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001882308]|not provided [RCV003738110] |
Chr16:1210476 [GRCh38] Chr16:1260476 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.56C>G (p.Pro19Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001959771] |
Chr16:1153793 [GRCh38] Chr16:1203793 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.417T>C (p.Phe139=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002019437] |
Chr16:1195437 [GRCh38] Chr16:1245437 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4376G>T (p.Cys1459Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001898009] |
Chr16:1211506 [GRCh38] Chr16:1261506 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7019C>T (p.Ser2340Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002011810] |
Chr16:1220951 [GRCh38] Chr16:1270951 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3416G>A (p.Ser1139Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001933853] |
Chr16:1209084 [GRCh38] Chr16:1259084 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507615]|Idiopathic generalized epilepsy [RCV001940964] |
Chr16:1207383 [GRCh38] Chr16:1257383 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6808C>T (p.Pro2270Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001989966] |
Chr16:1220740 [GRCh38] Chr16:1270740 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498054]|Idiopathic generalized epilepsy [RCV002029637] |
Chr16:1202437 [GRCh38] Chr16:1252437 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4580A>G (p.His1527Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001998332] |
Chr16:1211959 [GRCh38] Chr16:1261959 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6271G>T (p.Ala2091Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001960428] |
Chr16:1220203 [GRCh38] Chr16:1270203 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6433G>T (p.Asp2145Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001877773] |
Chr16:1220365 [GRCh38] Chr16:1270365 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6953dup (p.Glu2319fs) |
duplication |
Idiopathic generalized epilepsy [RCV001907046] |
Chr16:1220879..1220880 [GRCh38] Chr16:1270879..1270880 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001934050]|Inborn genetic diseases [RCV002562120] |
Chr16:1204157 [GRCh38] Chr16:1254157 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484583]|Idiopathic generalized epilepsy [RCV001921703] |
Chr16:1202380 [GRCh38] Chr16:1252380 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003492708]|Idiopathic generalized epilepsy [RCV001978876]|not provided [RCV003327545] |
Chr16:1220476 [GRCh38] Chr16:1270476 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3355A>G (p.Lys1119Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002034415] |
Chr16:1208213 [GRCh38] Chr16:1258213 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479729]|Idiopathic generalized epilepsy [RCV002013350] |
Chr16:1210375 [GRCh38] Chr16:1260375 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479477]|Idiopathic generalized epilepsy [RCV001971825] |
Chr16:1153837 [GRCh38] Chr16:1203837 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001917018]|Inborn genetic diseases [RCV002558422] |
Chr16:1220474 [GRCh38] Chr16:1270474 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484789]|Idiopathic generalized epilepsy [RCV002014759] |
Chr16:1204401 [GRCh38] Chr16:1254401 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479415]|Idiopathic generalized epilepsy [RCV001938648] |
Chr16:1205164 [GRCh38] Chr16:1255164 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3533A>G (p.Glu1178Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001997860] |
Chr16:1209201 [GRCh38] Chr16:1259201 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6526G>C (p.Glu2176Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001940462] |
Chr16:1220458 [GRCh38] Chr16:1270458 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002029999] |
Chr16:1208079 [GRCh38] Chr16:1258079 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482693]|Idiopathic generalized epilepsy [RCV001877983] |
Chr16:1200410 [GRCh38] Chr16:1250410 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5873C>T (p.Ala1958Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002015618] |
Chr16:1218637 [GRCh38] Chr16:1268637 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4151C>T (p.Ala1384Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001883461]|Inborn genetic diseases [RCV002552274] |
Chr16:1210899 [GRCh38] Chr16:1260899 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507720]|Idiopathic generalized epilepsy [RCV001979675] |
Chr16:1220861 [GRCh38] Chr16:1270861 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6614G>T (p.Arg2205Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001925943] |
Chr16:1220546 [GRCh38] Chr16:1270546 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482697]|Idiopathic generalized epilepsy [RCV001878126] |
Chr16:1220521 [GRCh38] Chr16:1270521 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478204]|Idiopathic generalized epilepsy [RCV001879480] |
Chr16:1207784 [GRCh38] Chr16:1257784 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478238]|Idiopathic generalized epilepsy [RCV001924780] |
Chr16:1220600 [GRCh38] Chr16:1270600 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5174-8G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001997923] |
Chr16:1215515 [GRCh38] Chr16:1265515 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479649]|Idiopathic generalized epilepsy [RCV002009716]|Inborn genetic diseases [RCV002573504] |
Chr16:1212097 [GRCh38] Chr16:1262097 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6492G>T (p.Glu2164Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001930463] |
Chr16:1220424 [GRCh38] Chr16:1270424 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4634T>C (p.Phe1545Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002050082] |
Chr16:1212013 [GRCh38] Chr16:1262013 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3723G>C (p.Glu1241Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001993088] |
Chr16:1209391 [GRCh38] Chr16:1259391 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507017]|Idiopathic generalized epilepsy [RCV001915873] |
Chr16:1209330 [GRCh38] Chr16:1259330 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2878C>G (p.Leu960Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001933244] |
Chr16:1207089 [GRCh38] Chr16:1257089 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002503453]|Idiopathic generalized epilepsy [RCV001902473] |
Chr16:1220989 [GRCh38] Chr16:1270989 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.634C>A (p.Arg212Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001921996] |
Chr16:1196014 [GRCh38] Chr16:1246014 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002478340]|Idiopathic generalized epilepsy [RCV001906737] |
Chr16:1209248 [GRCh38] Chr16:1259248 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4918A>G (p.Asn1640Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001881865] |
Chr16:1213920 [GRCh38] Chr16:1263920 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4898C>G (p.Thr1633Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001961316] |
Chr16:1213900 [GRCh38] Chr16:1263900 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4495G>A (p.Val1499Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001918810] |
Chr16:1211734 [GRCh38] Chr16:1261734 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.547A>T (p.Met183Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001921259] |
Chr16:1195927 [GRCh38] Chr16:1245927 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001903433]|not provided [RCV003320855] |
Chr16:1204061 [GRCh38] Chr16:1254061 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5885T>G (p.Leu1962Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002035964] |
Chr16:1218649 [GRCh38] Chr16:1268649 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5638A>G (p.Ile1880Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001999219] |
Chr16:1218402 [GRCh38] Chr16:1268402 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002491949]|Idiopathic generalized epilepsy [RCV001933469] |
Chr16:1208048 [GRCh38] Chr16:1258048 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486632]|Idiopathic generalized epilepsy [RCV002019865] |
Chr16:1201957 [GRCh38] Chr16:1251957 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6149C>A (p.Thr2050Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001897670] |
Chr16:1220081 [GRCh38] Chr16:1270081 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4704G>C (p.Glu1568Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002031626] |
Chr16:1212083 [GRCh38] Chr16:1262083 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486627]|Idiopathic generalized epilepsy [RCV002016027] |
Chr16:1213821 [GRCh38] Chr16:1263821 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6766T>C (p.Cys2256Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001903589] |
Chr16:1220698 [GRCh38] Chr16:1270698 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3885G>A (p.Met1295Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002048601] |
Chr16:1210409 [GRCh38] Chr16:1260409 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1919C>A (p.Pro640Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001934704] |
Chr16:1202369 [GRCh38] Chr16:1252369 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4038+4C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001920153] |
Chr16:1210655 [GRCh38] Chr16:1260655 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.151T>G (p.Ser51Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001957503] |
Chr16:1153888 [GRCh38] Chr16:1203888 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479480]|Idiopathic generalized epilepsy [RCV001952578] |
Chr16:1220556 [GRCh38] Chr16:1270556 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490060]|Idiopathic generalized epilepsy [RCV001878845] |
Chr16:1210108 [GRCh38] Chr16:1260108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002492184]|Idiopathic generalized epilepsy [RCV001995328] |
Chr16:1218543 [GRCh38] Chr16:1268543 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1632C>T (p.Gly544=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001979589] |
Chr16:1202082 [GRCh38] Chr16:1252082 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3709G>A (p.Glu1237Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002049518] |
Chr16:1209377 [GRCh38] Chr16:1259377 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001955347]|Inborn genetic diseases [RCV002562764] |
Chr16:1195943 [GRCh38] Chr16:1245943 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3445G>T (p.Gly1149Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001883318] |
Chr16:1209113 [GRCh38] Chr16:1259113 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3745-5C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001960896] |
Chr16:1210030 [GRCh38] Chr16:1260030 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001925098]|Inborn genetic diseases [RCV003264221] |
Chr16:1218459 [GRCh38] Chr16:1268459 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6868C>G (p.Pro2290Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002017276] |
Chr16:1220800 [GRCh38] Chr16:1270800 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479493]|Idiopathic generalized epilepsy [RCV001982181] |
Chr16:1209245 [GRCh38] Chr16:1259245 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4588T>C (p.Trp1530Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002018365] |
Chr16:1211967 [GRCh38] Chr16:1261967 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484616]|Idiopathic generalized epilepsy [RCV001938840]|Inborn genetic diseases [RCV002560629] |
Chr16:1220330 [GRCh38] Chr16:1270330 [GRCh37] Chr16:16p13.3 |
benign|likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6422A>G (p.Gln2141Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001924282] |
Chr16:1220354 [GRCh38] Chr16:1270354 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5347G>A (p.Glu1783Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002035141] |
Chr16:1217942 [GRCh38] Chr16:1267942 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.300-5G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001926120] |
Chr16:1194967 [GRCh38] Chr16:1244967 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.3084C>G (p.Asp1028Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001884791] |
Chr16:1207790 [GRCh38] Chr16:1257790 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482603]|Idiopathic generalized epilepsy [RCV001885637] |
Chr16:1202143 [GRCh38] Chr16:1252143 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.2033G>C (p.Gly678Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002019536] |
Chr16:1204040 [GRCh38] Chr16:1254040 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479726]|Idiopathic generalized epilepsy [RCV002010520] |
Chr16:1195015 [GRCh38] Chr16:1245015 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1402T>C (p.Phe468Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001976413] |
Chr16:1201852 [GRCh38] Chr16:1251852 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1459C>T (p.Arg487Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001997492] |
Chr16:1201909 [GRCh38] Chr16:1251909 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.3364-5C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001973021] |
Chr16:1209027 [GRCh38] Chr16:1259027 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2854C>T (p.Pro952Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001995763] |
Chr16:1207065 [GRCh38] Chr16:1257065 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5548G>T (p.Val1850Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002045952] |
Chr16:1218312 [GRCh38] Chr16:1268312 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001974615] |
Chr16:1220155 [GRCh38] Chr16:1270155 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1029C>G (p.Tyr343Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001899091] |
Chr16:1200481 [GRCh38] Chr16:1250481 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001933236]|Inborn genetic diseases [RCV003375441] |
Chr16:1220089 [GRCh38] Chr16:1270089 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1849C>G (p.Leu617Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001956574] |
Chr16:1202299 [GRCh38] Chr16:1252299 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.908C>G (p.Ser303Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001922743] |
Chr16:1200360 [GRCh38] Chr16:1250360 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6590C>T (p.Pro2197Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001988941] |
Chr16:1220522 [GRCh38] Chr16:1270522 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NC_000016.9:g.(?_1203738)_(1260155_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001989968] |
Chr16:1203738..1260155 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2451+4C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001993560] |
Chr16:1204462 [GRCh38] Chr16:1254462 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002506942]|Idiopathic generalized epilepsy [RCV001902545]|Inborn genetic diseases [RCV003264166] |
Chr16:1198735 [GRCh38] Chr16:1248735 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002482484]|Idiopathic generalized epilepsy [RCV001878368] |
Chr16:1218601 [GRCh38] Chr16:1268601 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6892G>C (p.Gly2298Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001900942] |
Chr16:1220824 [GRCh38] Chr16:1270824 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5170C>T (p.Arg1724Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001922855] |
Chr16:1215372 [GRCh38] Chr16:1265372 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484885]|Idiopathic generalized epilepsy [RCV001973895] |
Chr16:1209293 [GRCh38] Chr16:1259293 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6678_6704dup (p.Pro2227_Thr2235dup) |
duplication |
Idiopathic generalized epilepsy [RCV002050649] |
Chr16:1220605..1220606 [GRCh38] Chr16:1270605..1270606 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5855A>T (p.Glu1952Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001977487] |
Chr16:1218619 [GRCh38] Chr16:1268619 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2362C>G (p.Arg788Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001956601] |
Chr16:1204369 [GRCh38] Chr16:1254369 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484913]|Idiopathic generalized epilepsy [RCV001991128] |
Chr16:1207410 [GRCh38] Chr16:1257410 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4759+13CGGTGG[4] |
microsatellite |
Idiopathic generalized epilepsy [RCV001974900] |
Chr16:1212150..1212151 [GRCh38] Chr16:1262150..1262151 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.545+9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001994785] |
Chr16:1195574 [GRCh38] Chr16:1245574 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001875311] |
Chr16:1217969 [GRCh38] Chr16:1267969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6431T>C (p.Leu2144Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002027304] |
Chr16:1220363 [GRCh38] Chr16:1270363 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479718]|Idiopathic generalized epilepsy [RCV001996216] |
Chr16:1220377 [GRCh38] Chr16:1270377 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3869T>G (p.Val1290Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002033439] |
Chr16:1210393 [GRCh38] Chr16:1260393 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4327A>C (p.Ile1443Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001875401] |
Chr16:1211271 [GRCh38] Chr16:1261271 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4223+5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001918797] |
Chr16:1210976 [GRCh38] Chr16:1260976 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5030T>C (p.Phe1677Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002029160] |
Chr16:1215072 [GRCh38] Chr16:1265072 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001979328]|not specified [RCV003987948] |
Chr16:1215555 [GRCh38] Chr16:1265555 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002490036]|Idiopathic generalized epilepsy [RCV001865160] |
Chr16:1212114 [GRCh38] Chr16:1262114 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2404G>A (p.Ala802Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001977860] |
Chr16:1204411 [GRCh38] Chr16:1254411 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2405C>T (p.Ala802Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001869975] |
Chr16:1204412 [GRCh38] Chr16:1254412 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3224C>T (p.Pro1075Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001955126] |
Chr16:1208082 [GRCh38] Chr16:1258082 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.6202C>T (p.Arg2068Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001921919] |
Chr16:1220134 [GRCh38] Chr16:1270134 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6820G>A (p.Gly2274Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002046553] |
Chr16:1220752 [GRCh38] Chr16:1270752 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001877813]|Inborn genetic diseases [RCV002552139]|not provided [RCV003395252] |
Chr16:1202057 [GRCh38] Chr16:1252057 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001920818] |
Chr16:1210620 [GRCh38] Chr16:1260620 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1264952)_(1270994_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV001956025] |
Chr16:1264952..1270994 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4310G>A (p.Cys1437Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001996388] |
Chr16:1211254 [GRCh38] Chr16:1261254 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2550G>A (p.Leu850=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002026793] |
Chr16:1205212 [GRCh38] Chr16:1255212 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4685G>A (p.Arg1562Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001870093] |
Chr16:1212064 [GRCh38] Chr16:1262064 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002484424]|Idiopathic generalized epilepsy [RCV001918210] |
Chr16:1204012 [GRCh38] Chr16:1254012 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3753C>T (p.Cys1251=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002210190] |
Chr16:1210043 [GRCh38] Chr16:1260043 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+16GGCGGGG[2] |
microsatellite |
Idiopathic generalized epilepsy [RCV002111878] |
Chr16:1154052..1154058 [GRCh38] Chr16:1204052..1204058 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486881]|Idiopathic generalized epilepsy [RCV002105242] |
Chr16:1200487 [GRCh38] Chr16:1250487 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2724G>A (p.Leu908=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002112808] |
Chr16:1206224 [GRCh38] Chr16:1256224 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4351-13C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105616] |
Chr16:1211468 [GRCh38] Chr16:1261468 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5661C>T (p.Gly1887=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002146677] |
Chr16:1218425 [GRCh38] Chr16:1268425 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.412-13C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002125434] |
Chr16:1195419 [GRCh38] Chr16:1245419 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5175G>A (p.Val1725=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002210444] |
Chr16:1215524 [GRCh38] Chr16:1265524 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507979]|Idiopathic generalized epilepsy [RCV002105108] |
Chr16:1200316 [GRCh38] Chr16:1250316 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3186C>T (p.Pro1062=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105223] |
Chr16:1208044 [GRCh38] Chr16:1258044 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.610C>T (p.Leu204=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002208591] |
Chr16:1195990 [GRCh38] Chr16:1245990 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2766C>T (p.Leu922=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002190585] |
Chr16:1206266 [GRCh38] Chr16:1256266 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1321C>T (p.Leu441=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002190610]|Inborn genetic diseases [RCV002382299] |
Chr16:1201771 [GRCh38] Chr16:1251771 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5173+11G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494366]|Idiopathic generalized epilepsy [RCV002104351] |
Chr16:1215386 [GRCh38] Chr16:1265386 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6468C>T (p.Pro2156=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002109111] |
Chr16:1220400 [GRCh38] Chr16:1270400 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5887+20G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002207083] |
Chr16:1218671 [GRCh38] Chr16:1268671 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-17C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500153]|Idiopathic generalized epilepsy [RCV002108585] |
Chr16:1210770 [GRCh38] Chr16:1260770 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4476+19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002106163] |
Chr16:1211625 [GRCh38] Chr16:1261625 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.741T>C (p.Val247=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002074686] |
Chr16:1198712 [GRCh38] Chr16:1248712 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4192C>T (p.Leu1398=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105844] |
Chr16:1210940 [GRCh38] Chr16:1260940 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+8G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002208922] |
Chr16:1210143 [GRCh38] Chr16:1260143 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6048+18C>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494091]|Idiopathic generalized epilepsy [RCV002188134] |
Chr16:1219148 [GRCh38] Chr16:1269148 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6294C>T (p.Asp2098=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002086297] |
Chr16:1220226 [GRCh38] Chr16:1270226 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5550G>T (p.Val1850=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002108835] |
Chr16:1218314 [GRCh38] Chr16:1268314 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3291C>T (p.Ala1097=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002190873] |
Chr16:1208149 [GRCh38] Chr16:1258149 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.703C>T (p.Leu235=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002186698] |
Chr16:1198674 [GRCh38] Chr16:1248674 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1506C>T (p.His502=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002072550] |
Chr16:1201956 [GRCh38] Chr16:1251956 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3501G>C (p.Leu1167=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002147648] |
Chr16:1209169 [GRCh38] Chr16:1259169 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4350+16G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507914]|Idiopathic generalized epilepsy [RCV002205422] |
Chr16:1211310 [GRCh38] Chr16:1261310 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.174C>T (p.Arg58=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002165947] |
Chr16:1153911 [GRCh38] Chr16:1203911 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5394C>T (p.Phe1798=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002106668] |
Chr16:1217989 [GRCh38] Chr16:1267989 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5068C>T (p.Leu1690=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002126006] |
Chr16:1215270 [GRCh38] Chr16:1265270 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.681G>T (p.Leu227=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002126034] |
Chr16:1198652 [GRCh38] Chr16:1248652 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1938C>T (p.His646=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498186]|Idiopathic generalized epilepsy [RCV002192843] |
Chr16:1202388 [GRCh38] Chr16:1252388 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6645A>G (p.Thr2215=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002188654] |
Chr16:1220577 [GRCh38] Chr16:1270577 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5173+18C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494019]|Idiopathic generalized epilepsy [RCV002072749] |
Chr16:1215393 [GRCh38] Chr16:1265393 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1812G>A (p.Leu604=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002207945] |
Chr16:1202262 [GRCh38] Chr16:1252262 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500068]|Idiopathic generalized epilepsy [RCV002127658] |
Chr16:1200274 [GRCh38] Chr16:1250274 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5021G>A (p.Arg1674His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002209799] |
Chr16:1215063 [GRCh38] Chr16:1265063 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.753C>G (p.Leu251=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002074964] |
Chr16:1198724 [GRCh38] Chr16:1248724 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4743A>C (p.Leu1581=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002106544] |
Chr16:1212122 [GRCh38] Chr16:1262122 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3970-19C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002207806] |
Chr16:1210564 [GRCh38] Chr16:1260564 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5245-11C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500293]|Idiopathic generalized epilepsy [RCV002145973] |
Chr16:1216921 [GRCh38] Chr16:1266921 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+15C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002111103] |
Chr16:1196038 [GRCh38] Chr16:1246038 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2835A>G (p.Thr945=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002130075] |
Chr16:1207046 [GRCh38] Chr16:1257046 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6831T>C (p.Ser2277=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002109514] |
Chr16:1220763 [GRCh38] Chr16:1270763 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499932]|Idiopathic generalized epilepsy [RCV002104862] |
Chr16:1205116 [GRCh38] Chr16:1255116 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-19CCCGCC[3] |
microsatellite |
Idiopathic generalized epilepsy [RCV002088323] |
Chr16:1210350..1210351 [GRCh38] Chr16:1260350..1260351 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4615C>T (p.Leu1539=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002091749] |
Chr16:1211994 [GRCh38] Chr16:1261994 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2003-18C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002148309] |
Chr16:1203992 [GRCh38] Chr16:1253992 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+17G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494149]|Idiopathic generalized epilepsy [RCV002073846] |
Chr16:1209429 [GRCh38] Chr16:1259429 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6174A>C (p.Pro2058=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002192534] |
Chr16:1220106 [GRCh38] Chr16:1270106 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1095C>T (p.Gly365=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002075781] |
Chr16:1200547 [GRCh38] Chr16:1250547 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+20G>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498147]|Idiopathic generalized epilepsy [RCV002168011] |
Chr16:1154056 [GRCh38] Chr16:1204056 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6570C>A (p.Pro2190=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002106419] |
Chr16:1220502 [GRCh38] Chr16:1270502 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6714A>C (p.Ser2238=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002168082] |
Chr16:1220646 [GRCh38] Chr16:1270646 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5211C>T (p.Ala1737=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002085282] |
Chr16:1215560 [GRCh38] Chr16:1265560 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+16C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002186535] |
Chr16:1210151 [GRCh38] Chr16:1260151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002184951] |
Chr16:1210665 [GRCh38] Chr16:1260665 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002088873]|not provided [RCV003395399] |
Chr16:1200793 [GRCh38] Chr16:1250793 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5245-11C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486929]|Idiopathic generalized epilepsy [RCV002108764] |
Chr16:1216921 [GRCh38] Chr16:1266921 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4223+15G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105610] |
Chr16:1210986 [GRCh38] Chr16:1260986 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6345C>T (p.Ala2115=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002204953] |
Chr16:1220277 [GRCh38] Chr16:1270277 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5173+13G>C |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486806]|Idiopathic generalized epilepsy [RCV002166806] |
Chr16:1215388 [GRCh38] Chr16:1265388 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5245-14TC[2] |
microsatellite |
Idiopathic generalized epilepsy [RCV002167139] |
Chr16:1216918..1216919 [GRCh38] Chr16:1266918..1266919 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5912C>T (p.Pro1971Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002209382] |
Chr16:1218994 [GRCh38] Chr16:1268994 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6606C>A (p.Gly2202=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002191697] |
Chr16:1220538 [GRCh38] Chr16:1270538 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3154+13G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002127484] |
Chr16:1207873 [GRCh38] Chr16:1257873 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3747C>T (p.Ser1249=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002206468] |
Chr16:1210037 [GRCh38] Chr16:1260037 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+8G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002165840] |
Chr16:1210659 [GRCh38] Chr16:1260659 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-18C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498279]|Idiopathic generalized epilepsy [RCV002075134] |
Chr16:1201645 [GRCh38] Chr16:1251645 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.412-4G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002089438] |
Chr16:1195428 [GRCh38] Chr16:1245428 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1968C>T (p.Pro656=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002207878] |
Chr16:1202418 [GRCh38] Chr16:1252418 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2382C>T (p.Tyr794=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002147399] |
Chr16:1204389 [GRCh38] Chr16:1254389 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-70A>G |
single nucleotide variant |
not provided [RCV002244360] |
Chr16:1200186 [GRCh38] Chr16:1250186 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3363+12C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002496121]|Idiopathic generalized epilepsy [RCV002191512] |
Chr16:1208233 [GRCh38] Chr16:1258233 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1614G>A (p.Arg538=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002106937] |
Chr16:1202064 [GRCh38] Chr16:1252064 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.411+151G>A |
single nucleotide variant |
not provided [RCV002245103] |
Chr16:1195234 [GRCh38] Chr16:1245234 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+16GGCGGGG[4] |
microsatellite |
Idiopathic generalized epilepsy [RCV002074920] |
Chr16:1154051..1154052 [GRCh38] Chr16:1204051..1204052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1695A>G (p.Gly565=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002191373] |
Chr16:1202145 [GRCh38] Chr16:1252145 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105624]|Inborn genetic diseases [RCV003348798] |
Chr16:1220344 [GRCh38] Chr16:1270344 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1206C>T (p.Leu402=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002091956] |
Chr16:1200802 [GRCh38] Chr16:1250802 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+15_4929+25del |
deletion |
Idiopathic generalized epilepsy [RCV002108425] |
Chr16:1213938..1213948 [GRCh38] Chr16:1263938..1263948 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4351-15G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002126740] |
Chr16:1211466 [GRCh38] Chr16:1261466 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6201C>A (p.Val2067=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002185824] |
Chr16:1220133 [GRCh38] Chr16:1270133 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2331C>T (p.Arg777=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002185991] |
Chr16:1204338 [GRCh38] Chr16:1254338 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.936C>A (p.Arg312=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153864] |
Chr16:1200388 [GRCh38] Chr16:1250388 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4567-15G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002131203] |
Chr16:1211931 [GRCh38] Chr16:1261931 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5245-6G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002114777] |
Chr16:1216926 [GRCh38] Chr16:1266926 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3894C>T (p.His1298=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002172556] |
Chr16:1210418 [GRCh38] Chr16:1260418 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5039+16C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480966]|Idiopathic generalized epilepsy [RCV002152398] |
Chr16:1215097 [GRCh38] Chr16:1265097 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2958C>T (p.Ser986=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002196148] |
Chr16:1207325 [GRCh38] Chr16:1257325 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4759+13CGGTGG[2] |
microsatellite |
Idiopathic generalized epilepsy [RCV002189582] |
Chr16:1212151..1212156 [GRCh38] Chr16:1262151..1262156 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3745-14G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002115996] |
Chr16:1210021 [GRCh38] Chr16:1260021 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4394G>A (p.Arg1465Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002080155] |
Chr16:1211524 [GRCh38] Chr16:1261524 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1212+19G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002204909] |
Chr16:1200827 [GRCh38] Chr16:1250827 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3745-14G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494288]|Idiopathic generalized epilepsy [RCV002124773] |
Chr16:1210021 [GRCh38] Chr16:1260021 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1120-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002117119] |
Chr16:1200707 [GRCh38] Chr16:1250707 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.546-14G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002213651] |
Chr16:1195912 [GRCh38] Chr16:1245912 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2451+20C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002508032]|Idiopathic generalized epilepsy [RCV002149565] |
Chr16:1204478 [GRCh38] Chr16:1254478 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5445+17T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002089602] |
Chr16:1218057 [GRCh38] Chr16:1268057 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+16GGCGGGG[5] |
microsatellite |
Idiopathic generalized epilepsy [RCV002111218] |
Chr16:1154051..1154052 [GRCh38] Chr16:1204051..1204052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4467C>T (p.Asn1489=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002191583] |
Chr16:1211597 [GRCh38] Chr16:1261597 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3745-18C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494508]|Idiopathic generalized epilepsy [RCV002174340] |
Chr16:1210017 [GRCh38] Chr16:1260017 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4059G>C (p.Leu1353=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153226] |
Chr16:1210807 [GRCh38] Chr16:1260807 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4759+17G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002170951] |
Chr16:1212155 [GRCh38] Chr16:1262155 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.15A>C (p.Ala5=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002185290] |
Chr16:1153752 [GRCh38] Chr16:1203752 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3915C>T (p.Phe1305=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002109513]|not provided [RCV003395392] |
Chr16:1210439 [GRCh38] Chr16:1260439 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4245C>A (p.Gly1415=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002096913] |
Chr16:1211189 [GRCh38] Chr16:1261189 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2790-17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002080554] |
Chr16:1206984 [GRCh38] Chr16:1256984 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1158C>T (p.Tyr386=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002208148] |
Chr16:1200754 [GRCh38] Chr16:1250754 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5106G>A (p.Glu1702=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002210050] |
Chr16:1215308 [GRCh38] Chr16:1265308 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=) |
single nucleotide variant |
CACNA1H-related condition [RCV003933664]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002500409]|Idiopathic generalized epilepsy [RCV002193597] |
Chr16:1200295 [GRCh38] Chr16:1250295 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500279]|Idiopathic generalized epilepsy [RCV002153389] |
Chr16:1202151 [GRCh38] Chr16:1252151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+14dup |
duplication |
Idiopathic generalized epilepsy [RCV002112744] |
Chr16:1210662..1210663 [GRCh38] Chr16:1260662..1260663 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-11G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002149968] |
Chr16:1210776 [GRCh38] Chr16:1260776 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6567C>T (p.Pro2189=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002134607] |
Chr16:1220499 [GRCh38] Chr16:1270499 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5173+13G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002116684] |
Chr16:1215388 [GRCh38] Chr16:1265388 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6729C>A (p.Asp2243Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002112836] |
Chr16:1220661 [GRCh38] Chr16:1270661 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3969+16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002172823] |
Chr16:1210509 [GRCh38] Chr16:1260509 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6312C>T (p.Ile2104=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153769] |
Chr16:1220244 [GRCh38] Chr16:1270244 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2604-13C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002211616] |
Chr16:1206091 [GRCh38] Chr16:1256091 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3525C>T (p.Thr1175=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002132874] |
Chr16:1209193 [GRCh38] Chr16:1259193 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.714C>T (p.Phe238=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002093736] |
Chr16:1198685 [GRCh38] Chr16:1248685 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1890C>A (p.Pro630=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002131734] |
Chr16:1202340 [GRCh38] Chr16:1252340 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.153C>T (p.Ser51=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002212418] |
Chr16:1153890 [GRCh38] Chr16:1203890 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-5G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494193]|Idiopathic generalized epilepsy [RCV002104873] |
Chr16:1194967 [GRCh38] Chr16:1244967 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507929]|Idiopathic generalized epilepsy [RCV002073588] |
Chr16:1220715 [GRCh38] Chr16:1270715 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6464G>A (p.Arg2155Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002195876] |
Chr16:1220396 [GRCh38] Chr16:1270396 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+20G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002134182] |
Chr16:1213951 [GRCh38] Chr16:1263951 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6492G>A (p.Glu2164=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153330] |
Chr16:1220424 [GRCh38] Chr16:1270424 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-11C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153352] |
Chr16:1208002 [GRCh38] Chr16:1258002 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4351-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002197575] |
Chr16:1211472 [GRCh38] Chr16:1261472 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4482G>A (p.Leu1494=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002173021] |
Chr16:1211721 [GRCh38] Chr16:1261721 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5244+14G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002115263] |
Chr16:1215607 [GRCh38] Chr16:1265607 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1008C>G (p.Ala336=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002094152] |
Chr16:1200460 [GRCh38] Chr16:1250460 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2790-20G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494129]|Idiopathic generalized epilepsy [RCV002205804] |
Chr16:1206981 [GRCh38] Chr16:1256981 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4567-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002095524] |
Chr16:1211930 [GRCh38] Chr16:1261930 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-11G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002175112] |
Chr16:1210776 [GRCh38] Chr16:1260776 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.327A>C (p.Val109=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002175125] |
Chr16:1194999 [GRCh38] Chr16:1244999 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4116G>A (p.Val1372=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002094694] |
Chr16:1210864 [GRCh38] Chr16:1260864 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6771G>T (p.Arg2257=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002174113] |
Chr16:1220703 [GRCh38] Chr16:1270703 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3312G>A (p.Arg1104=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002196545] |
Chr16:1208170 [GRCh38] Chr16:1258170 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2472T>C (p.Ala824=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002080651] |
Chr16:1205134 [GRCh38] Chr16:1255134 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3154+12C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499945]|Idiopathic generalized epilepsy [RCV002117159] |
Chr16:1207872 [GRCh38] Chr16:1257872 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5760C>G (p.Ser1920=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002131595]|Inborn genetic diseases [RCV002346500] |
Chr16:1218524 [GRCh38] Chr16:1268524 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5115C>T (p.Ala1705=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002173312] |
Chr16:1215317 [GRCh38] Chr16:1265317 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3819C>T (p.Ala1273=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002112840] |
Chr16:1210109 [GRCh38] Chr16:1260109 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002092980] |
Chr16:1205096 [GRCh38] Chr16:1255096 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500244]|Idiopathic generalized epilepsy [RCV002133355]|not provided [RCV003395412] |
Chr16:1204215 [GRCh38] Chr16:1254215 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+8G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494280]|Idiopathic generalized epilepsy [RCV002132322] |
Chr16:1210659 [GRCh38] Chr16:1260659 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4476+15C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002496134]|Idiopathic generalized epilepsy [RCV002196571] |
Chr16:1211621 [GRCh38] Chr16:1261621 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6933C>T (p.Pro2311=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002134869] |
Chr16:1220865 [GRCh38] Chr16:1270865 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5324-14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002097269] |
Chr16:1217905 [GRCh38] Chr16:1267905 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6588C>T (p.Pro2196=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002135098] |
Chr16:1220520 [GRCh38] Chr16:1270520 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2607C>T (p.Val869=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153852] |
Chr16:1206107 [GRCh38] Chr16:1256107 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3688C>T (p.Leu1230=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105794] |
Chr16:1209356 [GRCh38] Chr16:1259356 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2908-19G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105831] |
Chr16:1207256 [GRCh38] Chr16:1257256 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4930-5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002078346] |
Chr16:1214967 [GRCh38] Chr16:1264967 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-15T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002172257] |
Chr16:1200241 [GRCh38] Chr16:1250241 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-13G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002079534] |
Chr16:1201650 [GRCh38] Chr16:1251650 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+13G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002213727] |
Chr16:1213944 [GRCh38] Chr16:1263944 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002116223] |
Chr16:1212544 [GRCh38] Chr16:1262544 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5288A>G (p.Tyr1763Cys) |
single nucleotide variant |
not provided [RCV002224578] |
Chr16:1216975 [GRCh38] Chr16:1266975 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.6786C>T (p.Thr2262=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002167074] |
Chr16:1220718 [GRCh38] Chr16:1270718 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507999]|Idiopathic generalized epilepsy [RCV002113419] |
Chr16:1154019 [GRCh38] Chr16:1204019 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.150C>T (p.Pro50=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002153472] |
Chr16:1153887 [GRCh38] Chr16:1203887 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1565A>G (p.His522Arg) |
single nucleotide variant |
not provided [RCV002211013] |
Chr16:1202015 [GRCh38] Chr16:1252015 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3102G>A (p.Thr1034=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002113956] |
Chr16:1207808 [GRCh38] Chr16:1257808 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002152251] |
Chr16:1210359 [GRCh38] Chr16:1260359 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5887+13G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002193127] |
Chr16:1218664 [GRCh38] Chr16:1268664 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4476+12G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002170717] |
Chr16:1211618 [GRCh38] Chr16:1261618 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4224-17C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498242]|Idiopathic generalized epilepsy [RCV002213161] |
Chr16:1211151 [GRCh38] Chr16:1261151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-20G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002151774] |
Chr16:1210767 [GRCh38] Chr16:1260767 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2169T>C (p.Asp723=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002209638] |
Chr16:1204176 [GRCh38] Chr16:1254176 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.765C>T (p.Leu255=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002170381] |
Chr16:1198736 [GRCh38] Chr16:1248736 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002169073] |
Chr16:1205099 [GRCh38] Chr16:1255099 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4632C>A (p.Phe1544Leu) |
single nucleotide variant |
not provided [RCV002211323] |
Chr16:1212011 [GRCh38] Chr16:1262011 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5490C>T (p.Ser1830=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002093210] |
Chr16:1218254 [GRCh38] Chr16:1268254 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6291C>T (p.Ala2097=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002131223] |
Chr16:1220223 [GRCh38] Chr16:1270223 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6372G>A (p.Pro2124=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002112708] |
Chr16:1220304 [GRCh38] Chr16:1270304 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.948C>T (p.Thr316=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002077573] |
Chr16:1200400 [GRCh38] Chr16:1250400 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002071278] |
Chr16:1198793 [GRCh38] Chr16:1248793 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3471C>T (p.Arg1157=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002095520] |
Chr16:1209139 [GRCh38] Chr16:1259139 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002085761] |
Chr16:1207995 [GRCh38] Chr16:1257995 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4350+9C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002208410] |
Chr16:1211303 [GRCh38] Chr16:1261303 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2454C>G (p.Pro818=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002078317] |
Chr16:1205116 [GRCh38] Chr16:1255116 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+11C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002479866]|Idiopathic generalized epilepsy [RCV002194902] |
Chr16:1210146 [GRCh38] Chr16:1260146 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.948C>A (p.Thr316=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002174295] |
Chr16:1200400 [GRCh38] Chr16:1250400 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5520C>T (p.Phe1840=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002095924] |
Chr16:1218284 [GRCh38] Chr16:1268284 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5577C>T (p.Leu1859=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002105708] |
Chr16:1218341 [GRCh38] Chr16:1268341 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2789+14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002191816] |
Chr16:1206303 [GRCh38] Chr16:1256303 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5324-16G>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494478]|Idiopathic generalized epilepsy [RCV002151863] |
Chr16:1217903 [GRCh38] Chr16:1267903 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1716G>T (p.Val572=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002211553] |
Chr16:1202166 [GRCh38] Chr16:1252166 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3778C>G (p.Pro1260Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002096233] |
Chr16:1210068 [GRCh38] Chr16:1260068 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1701C>G (p.Pro567=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002096894] |
Chr16:1202151 [GRCh38] Chr16:1252151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5174-20C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494363]|Idiopathic generalized epilepsy [RCV002106140] |
Chr16:1215503 [GRCh38] Chr16:1265503 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5700C>A (p.Pro1900=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002112956] |
Chr16:1218464 [GRCh38] Chr16:1268464 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002133443] |
Chr16:1201655 [GRCh38] Chr16:1251655 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.588G>C (p.Ser196=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002193436] |
Chr16:1195968 [GRCh38] Chr16:1245968 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5526C>T (p.Thr1842=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002149758] |
Chr16:1218290 [GRCh38] Chr16:1268290 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002149761] |
Chr16:1198791 [GRCh38] Chr16:1248791 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3063+17_3063+18del |
microsatellite |
Idiopathic generalized epilepsy [RCV002187830] |
Chr16:1207444..1207445 [GRCh38] Chr16:1257444..1257445 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-17C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002132792] |
Chr16:1205097 [GRCh38] Chr16:1255097 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6049-11C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002499937]|Idiopathic generalized epilepsy [RCV002116811] |
Chr16:1219970 [GRCh38] Chr16:1269970 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5174-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002172408] |
Chr16:1215507 [GRCh38] Chr16:1265507 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3364-13C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494325]|Idiopathic generalized epilepsy [RCV002170969] |
Chr16:1209019 [GRCh38] Chr16:1259019 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2789+20C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002212397] |
Chr16:1206309 [GRCh38] Chr16:1256309 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+11G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002115597] |
Chr16:1209423 [GRCh38] Chr16:1259423 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-20C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002112186] |
Chr16:1201643 [GRCh38] Chr16:1251643 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3732C>T (p.Asp1244=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002130301] |
Chr16:1209400 [GRCh38] Chr16:1259400 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4760-5T>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002114332]|not provided [RCV003738150] |
Chr16:1212506 [GRCh38] Chr16:1262506 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5826G>A (p.Ala1942=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002172082] |
Chr16:1218590 [GRCh38] Chr16:1268590 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3659A>G (p.Gln1220Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002078537] |
Chr16:1209327 [GRCh38] Chr16:1259327 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2907+18del |
deletion |
Idiopathic generalized epilepsy [RCV002146967] |
Chr16:1207133 [GRCh38] Chr16:1257133 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2002+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002077478] |
Chr16:1202467 [GRCh38] Chr16:1252467 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3745-17G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480954]|Idiopathic generalized epilepsy [RCV002132312] |
Chr16:1210018 [GRCh38] Chr16:1260018 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4759+19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002114393] |
Chr16:1212157 [GRCh38] Chr16:1262157 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2907+18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002122849] |
Chr16:1207136 [GRCh38] Chr16:1257136 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.643+13C>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494410]|Idiopathic generalized epilepsy [RCV002118983] |
Chr16:1196036 [GRCh38] Chr16:1246036 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4005C>T (p.Phe1335=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002199275] |
Chr16:1210618 [GRCh38] Chr16:1260618 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+13C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002159444] |
Chr16:1205278 [GRCh38] Chr16:1255278 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1161C>T (p.Val387=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002099558] |
Chr16:1200757 [GRCh38] Chr16:1250757 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5039+7G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002135430] |
Chr16:1215088 [GRCh38] Chr16:1265088 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4760-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002097847] |
Chr16:1212495 [GRCh38] Chr16:1262495 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4677C>T (p.His1559=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002081294] |
Chr16:1212056 [GRCh38] Chr16:1262056 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1437C>T (p.Tyr479=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002135602]|Inborn genetic diseases [RCV002391316] |
Chr16:1201887 [GRCh38] Chr16:1251887 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4773C>A (p.Ser1591Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002135603] |
Chr16:1212524 [GRCh38] Chr16:1262524 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+19C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002175526] |
Chr16:1196042 [GRCh38] Chr16:1246042 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002177307] |
Chr16:1207998 [GRCh38] Chr16:1257998 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.396C>T (p.Arg132=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002199912] |
Chr16:1195068 [GRCh38] Chr16:1245068 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-13G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002139475] |
Chr16:1213767 [GRCh38] Chr16:1263767 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3969+20C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002486895]|Idiopathic generalized epilepsy [RCV002117837] |
Chr16:1210513 [GRCh38] Chr16:1260513 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2790-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002101928] |
Chr16:1206992 [GRCh38] Chr16:1256992 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3702C>T (p.Ser1234=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002100116] |
Chr16:1209370 [GRCh38] Chr16:1259370 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+7G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002201791] |
Chr16:1212535 [GRCh38] Chr16:1262535 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-12C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002508101]|Idiopathic generalized epilepsy [RCV002137803] |
Chr16:1205102 [GRCh38] Chr16:1255102 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4557C>T (p.Val1519=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002136032] |
Chr16:1211796 [GRCh38] Chr16:1261796 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-13G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002160238] |
Chr16:1201650 [GRCh38] Chr16:1251650 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2826C>T (p.Ser942=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002160245] |
Chr16:1207037 [GRCh38] Chr16:1257037 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3294C>G (p.Pro1098=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002081920] |
Chr16:1208152 [GRCh38] Chr16:1258152 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498253]|Idiopathic generalized epilepsy [RCV002217358] |
Chr16:1215293 [GRCh38] Chr16:1265293 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2604-18G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002176327] |
Chr16:1206086 [GRCh38] Chr16:1256086 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.545+14G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002141900] |
Chr16:1195579 [GRCh38] Chr16:1245579 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6729C>T (p.Asp2243=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002136418]|Inborn genetic diseases [RCV002373003] |
Chr16:1220661 [GRCh38] Chr16:1270661 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.42C>T (p.Pro14=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002103046] |
Chr16:1153779 [GRCh38] Chr16:1203779 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4500G>A (p.Leu1500=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002138542] |
Chr16:1211739 [GRCh38] Chr16:1261739 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+14G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002102829] |
Chr16:1210149 [GRCh38] Chr16:1260149 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+12G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002101279] |
Chr16:1210147 [GRCh38] Chr16:1260147 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3969+12A>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505803]|Idiopathic generalized epilepsy [RCV002140383] |
Chr16:1210505 [GRCh38] Chr16:1260505 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3364-14C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002142692] |
Chr16:1209018 [GRCh38] Chr16:1259018 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=) |
single nucleotide variant |
CACNA1H-related condition [RCV003892196]|Epilepsy, childhood absence, susceptibility to, 6 [RCV002500414]|Idiopathic generalized epilepsy [RCV002184444] |
Chr16:1209322 [GRCh38] Chr16:1259322 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+7del |
deletion |
Idiopathic generalized epilepsy [RCV002121109] |
Chr16:1198781 [GRCh38] Chr16:1248781 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5010A>G (p.Ala1670=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002220153] |
Chr16:1215052 [GRCh38] Chr16:1265052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1863G>T (p.Val621=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002081385]|Inborn genetic diseases [RCV002409544] |
Chr16:1202313 [GRCh38] Chr16:1252313 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2002+164G>C |
single nucleotide variant |
not provided [RCV002244362] |
Chr16:1202616 [GRCh38] Chr16:1252616 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1212+18T>C |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002496105]|Idiopathic generalized epilepsy [RCV002179225] |
Chr16:1200826 [GRCh38] Chr16:1250826 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.480G>C (p.Leu160=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002161525] |
Chr16:1195500 [GRCh38] Chr16:1245500 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1237C>T (p.Leu413=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002137550]|not provided [RCV003389901] |
Chr16:1201687 [GRCh38] Chr16:1251687 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5173+19G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498296]|Idiopathic generalized epilepsy [RCV002083513] |
Chr16:1215394 [GRCh38] Chr16:1265394 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4587C>G (p.Pro1529=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002141303] |
Chr16:1211966 [GRCh38] Chr16:1261966 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3313C>T (p.Arg1105Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002163485] |
Chr16:1208171 [GRCh38] Chr16:1258171 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.579G>A (p.Val193=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002139610] |
Chr16:1195959 [GRCh38] Chr16:1245959 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5841G>A (p.Pro1947=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002121859] |
Chr16:1218605 [GRCh38] Chr16:1268605 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4930-17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002204072] |
Chr16:1214955 [GRCh38] Chr16:1264955 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3969+16C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002163596] |
Chr16:1210509 [GRCh38] Chr16:1260509 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6390G>A (p.Arg2130=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002217029] |
Chr16:1220322 [GRCh38] Chr16:1270322 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5970G>A (p.Arg1990=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002163708] |
Chr16:1219052 [GRCh38] Chr16:1269052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4567-4A>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507919]|Idiopathic generalized epilepsy [RCV002217174]|not specified [RCV003388092] |
Chr16:1211942 [GRCh38] Chr16:1261942 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2603+9C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002219318] |
Chr16:1205274 [GRCh38] Chr16:1255274 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002508061]|Idiopathic generalized epilepsy [RCV002084235] |
Chr16:1213805 [GRCh38] Chr16:1263805 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1695A>C (p.Gly565=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002162353] |
Chr16:1202145 [GRCh38] Chr16:1252145 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002120523]|not provided [RCV003395407] |
Chr16:1202430 [GRCh38] Chr16:1252430 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505850]|Idiopathic generalized epilepsy [RCV002176330] |
Chr16:1201767 [GRCh38] Chr16:1251767 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-13G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002143805] |
Chr16:1213767 [GRCh38] Chr16:1263767 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4223+14C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500137]|Idiopathic generalized epilepsy [RCV002099091] |
Chr16:1210985 [GRCh38] Chr16:1260985 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494132]|Idiopathic generalized epilepsy [RCV002217647]|Inborn genetic diseases [RCV002427594] |
Chr16:1204206 [GRCh38] Chr16:1254206 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.390C>G (p.Ser130=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002217658] |
Chr16:1195062 [GRCh38] Chr16:1245062 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4836G>T (p.Ser1612=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002200852] |
Chr16:1213838 [GRCh38] Chr16:1263838 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3582G>A (p.Arg1194=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002164321] |
Chr16:1209250 [GRCh38] Chr16:1259250 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+14C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002101198] |
Chr16:1154050 [GRCh38] Chr16:1204050 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5324-16G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002182448] |
Chr16:1217903 [GRCh38] Chr16:1267903 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2538C>A (p.Ala846=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002099302] |
Chr16:1205200 [GRCh38] Chr16:1255200 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3154+14G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002180287] |
Chr16:1207874 [GRCh38] Chr16:1257874 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.411+17G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002141857] |
Chr16:1195100 [GRCh38] Chr16:1245100 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4224-11C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494033]|Idiopathic generalized epilepsy [RCV002176876] |
Chr16:1211157 [GRCh38] Chr16:1261157 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505860]|Idiopathic generalized epilepsy [RCV002184157]|Inborn genetic diseases [RCV002409609] |
Chr16:1202142 [GRCh38] Chr16:1252142 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3063+18G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002117501] |
Chr16:1207448 [GRCh38] Chr16:1257448 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3155-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002220325] |
Chr16:1208007 [GRCh38] Chr16:1258007 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4038+17G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002097887] |
Chr16:1210668 [GRCh38] Chr16:1260668 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1323G>A (p.Leu441=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002083319] |
Chr16:1201773 [GRCh38] Chr16:1251773 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002122889]|See cases [RCV002252766] |
Chr16:1201652 [GRCh38] Chr16:1251652 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4777+11T>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002184589] |
Chr16:1212539 [GRCh38] Chr16:1262539 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5039+17C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500037]|Idiopathic generalized epilepsy [RCV002118029] |
Chr16:1215098 [GRCh38] Chr16:1265098 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.2604-17C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002203369] |
Chr16:1206087 [GRCh38] Chr16:1256087 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002480988]|Idiopathic generalized epilepsy [RCV002121887] |
Chr16:1202442 [GRCh38] Chr16:1252442 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-14C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494486]|Idiopathic generalized epilepsy [RCV002154533] |
Chr16:1213766 [GRCh38] Chr16:1263766 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.5238C>T (p.Leu1746=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002141100] |
Chr16:1215587 [GRCh38] Chr16:1265587 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4476+16G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002198461]|not specified [RCV003479414] |
Chr16:1211622 [GRCh38] Chr16:1261622 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3595C>T (p.Leu1199=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002137945] |
Chr16:1209263 [GRCh38] Chr16:1259263 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+15C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002202124] |
Chr16:1196038 [GRCh38] Chr16:1246038 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2003-12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002221055] |
Chr16:1203998 [GRCh38] Chr16:1253998 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.975G>T (p.Pro325=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002120345] |
Chr16:1200427 [GRCh38] Chr16:1250427 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.456C>T (p.Val152=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002102596] |
Chr16:1195476 [GRCh38] Chr16:1245476 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002183260] |
Chr16:1196039 [GRCh38] Chr16:1246039 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5913G>A (p.Pro1971=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002161913] |
Chr16:1218995 [GRCh38] Chr16:1268995 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5268C>T (p.Phe1756=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002155067] |
Chr16:1216955 [GRCh38] Chr16:1266955 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500134]|Idiopathic generalized epilepsy [RCV002099022] |
Chr16:1217962 [GRCh38] Chr16:1267962 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1395C>G (p.Gly465=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002099026] |
Chr16:1201845 [GRCh38] Chr16:1251845 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2238C>T (p.Pro746=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002156986] |
Chr16:1204245 [GRCh38] Chr16:1254245 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.870C>T (p.Ile290=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002120615] |
Chr16:1200322 [GRCh38] Chr16:1250322 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5952T>C (p.Ala1984=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002143371]|Inborn genetic diseases [RCV002352912] |
Chr16:1219034 [GRCh38] Chr16:1269034 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+14_299+15inv |
inversion |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507927]|Idiopathic generalized epilepsy [RCV002219668] |
Chr16:1154050..1154051 [GRCh38] Chr16:1204050..1204051 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5286C>T (p.Ile1762=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002123780] |
Chr16:1216973 [GRCh38] Chr16:1266973 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1212+16A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002183551] |
Chr16:1200824 [GRCh38] Chr16:1250824 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.195C>T (p.Asp65=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002162217] |
Chr16:1153932 [GRCh38] Chr16:1203932 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2421G>C (p.Thr807=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002101263] |
Chr16:1204428 [GRCh38] Chr16:1254428 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5784C>G (p.Pro1928=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002124004] |
Chr16:1218548 [GRCh38] Chr16:1268548 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+20C>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002508022]|Idiopathic generalized epilepsy [RCV002136735] |
Chr16:1205285 [GRCh38] Chr16:1255285 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3720C>G (p.Ala1240=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002121207] |
Chr16:1209388 [GRCh38] Chr16:1259388 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+9G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002180680] |
Chr16:1210144 [GRCh38] Chr16:1260144 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-28_3846-7del |
deletion |
Idiopathic generalized epilepsy [RCV002137305] |
Chr16:1210334..1210355 [GRCh38] Chr16:1260334..1260355 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+9G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002201678] |
Chr16:1198783 [GRCh38] Chr16:1248783 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+17G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002103199] |
Chr16:1212545 [GRCh38] Chr16:1262545 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.657G>A (p.Leu219=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002182902] |
Chr16:1198628 [GRCh38] Chr16:1248628 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5916C>T (p.Pro1972=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002139334] |
Chr16:1218998 [GRCh38] Chr16:1268998 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3990C>G (p.Val1330=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002216514]|Inborn genetic diseases [RCV002372867] |
Chr16:1210603 [GRCh38] Chr16:1260603 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5571C>T (p.Ala1857=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002183120] |
Chr16:1218335 [GRCh38] Chr16:1268335 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-16G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507884]|Idiopathic generalized epilepsy [RCV002175341] |
Chr16:1210354 [GRCh38] Chr16:1260354 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4566+18G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002508018]|Idiopathic generalized epilepsy [RCV002117926] |
Chr16:1211823 [GRCh38] Chr16:1261823 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.129G>A (p.Gly43=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002139557] |
Chr16:1153866 [GRCh38] Chr16:1203866 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002498187]|Idiopathic generalized epilepsy [RCV002202048] |
Chr16:1207103 [GRCh38] Chr16:1257103 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4797C>T (p.Tyr1599=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002143267] |
Chr16:1213799 [GRCh38] Chr16:1263799 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2148C>A (p.Gly716=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002141178] |
Chr16:1204155 [GRCh38] Chr16:1254155 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002198401] |
Chr16:1154051 [GRCh38] Chr16:1204051 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6444C>T (p.Gly2148=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002202255] |
Chr16:1220376 [GRCh38] Chr16:1270376 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2064C>T (p.Pro688=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002103857] |
Chr16:1204071 [GRCh38] Chr16:1254071 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+15C>G |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002505848]|Idiopathic generalized epilepsy [RCV002183588] |
Chr16:1154051 [GRCh38] Chr16:1204051 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6048+12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002118133] |
Chr16:1219142 [GRCh38] Chr16:1269142 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2002+12G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002181530] |
Chr16:1202464 [GRCh38] Chr16:1252464 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5039+18G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002120331] |
Chr16:1215099 [GRCh38] Chr16:1265099 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3064-15C>T |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507861]|Idiopathic generalized epilepsy [RCV002156761] |
Chr16:1207755 [GRCh38] Chr16:1257755 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.6639C>T (p.Ser2213=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002136136] |
Chr16:1220571 [GRCh38] Chr16:1270571 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002500340]|Idiopathic generalized epilepsy [RCV002158455] |
Chr16:1213814 [GRCh38] Chr16:1263814 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1797T>C (p.Ala599=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002160406] |
Chr16:1202247 [GRCh38] Chr16:1252247 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6159C>A (p.Gly2053=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002139911] |
Chr16:1220091 [GRCh38] Chr16:1270091 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.696C>T (p.Asn232=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002124087] |
Chr16:1198667 [GRCh38] Chr16:1248667 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+8C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002204012] |
Chr16:1205273 [GRCh38] Chr16:1255273 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-13C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002184054] |
Chr16:1205101 [GRCh38] Chr16:1255101 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6534T>C (p.Ala2178=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002217739] |
Chr16:1220466 [GRCh38] Chr16:1270466 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5217G>C (p.Leu1739=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002120606] |
Chr16:1215566 [GRCh38] Chr16:1265566 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4794C>G (p.Pro1598=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002176615] |
Chr16:1213796 [GRCh38] Chr16:1263796 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4760-4C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002140266] |
Chr16:1212507 [GRCh38] Chr16:1262507 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5244+17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002136859] |
Chr16:1215610 [GRCh38] Chr16:1265610 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.643+11G>A |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002507928]|Idiopathic generalized epilepsy [RCV002220004] |
Chr16:1196034 [GRCh38] Chr16:1246034 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3906C>T (p.Val1302=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002220014] |
Chr16:1210430 [GRCh38] Chr16:1260430 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4350+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002141770] |
Chr16:1211309 [GRCh38] Chr16:1261309 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.546-5C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002219748] |
Chr16:1195921 [GRCh38] Chr16:1245921 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+10C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002121230] |
Chr16:1212538 [GRCh38] Chr16:1262538 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3639G>A (p.Lys1213=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002142449] |
Chr16:1209307 [GRCh38] Chr16:1259307 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5040-16G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002139088] |
Chr16:1215226 [GRCh38] Chr16:1265226 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.390C>A (p.Ser130=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002182818] |
Chr16:1195062 [GRCh38] Chr16:1245062 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002494076]|Idiopathic generalized epilepsy [RCV002184701] |
Chr16:1213853 [GRCh38] Chr16:1263853 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002184725] |
Chr16:1201649 [GRCh38] Chr16:1251649 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6292G>A (p.Asp2098Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003110897] |
Chr16:1220224 [GRCh38] Chr16:1270224 [GRCh37] Chr16:16p13.3 |
benign |
NC_000016.9:g.(?_256302)_(4852572_?)dup |
duplication |
Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] |
Chr16:256302..4852572 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003778652]|not provided [RCV003110007] |
Chr16:1216957 [GRCh38] Chr16:1266957 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(1843653_?)del |
deletion |
Idiopathic generalized epilepsy [RCV003109815] |
Chr16:256302..1843653 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1203738)_(1204056_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV003109816] |
Chr16:1203738..1204056 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244952)_(1256309_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV003109817] |
Chr16:1244952..1256309 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244952)_(1246043_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV003109818] |
Chr16:1244952..1246043 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1244952)_(1270994_?)del |
deletion |
Idiopathic generalized epilepsy [RCV003109819] |
Chr16:1244952..1270994 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_1248595)_(1270994_?)dup |
duplication |
Idiopathic generalized epilepsy [RCV003109820] |
Chr16:1248595..1270994 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3384C>T (p.Pro1128=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003113046] |
Chr16:1209052 [GRCh38] Chr16:1259052 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3805C>T (p.Arg1269Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003118349] |
Chr16:1210095 [GRCh38] Chr16:1260095 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2177G>A (p.Gly726Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003112708] |
Chr16:1204184 [GRCh38] Chr16:1254184 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5445+15C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003118333] |
Chr16:1218055 [GRCh38] Chr16:1268055 [GRCh37] Chr16:16p13.3 |
likely benign |
NC_000016.9:g.(?_256302)_(1657267_?)del |
deletion |
Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] |
Chr16:256302..1657267 [GRCh37] Chr16:16p13.3 |
pathogenic|no classifications from unflagged records |
NM_021098.3(CACNA1H):c.3692G>A (p.Arg1231His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003115723] |
Chr16:1209360 [GRCh38] Chr16:1259360 [GRCh37] Chr16:16p13.3 |
benign |
NC_000016.9:g.(?_256302)_(1918176_?)del |
deletion |
not provided [RCV003119703] |
Chr16:256302..1918176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002272839] |
Chr16:1212096 [GRCh38] Chr16:1262096 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5024G>T (p.Arg1675Leu) |
single nucleotide variant |
not provided [RCV003152008] |
Chr16:1215066 [GRCh38] Chr16:1265066 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4525A>C (p.Ile1509Leu) |
single nucleotide variant |
not provided [RCV003152027] |
Chr16:1211764 [GRCh38] Chr16:1261764 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1956C>G (p.Asn652Lys) |
single nucleotide variant |
not provided [RCV003149434] |
Chr16:1202406 [GRCh38] Chr16:1252406 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5230C>G (p.Gln1744Glu) |
single nucleotide variant |
not provided [RCV002265381] |
Chr16:1215579 [GRCh38] Chr16:1265579 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5612G>T (p.Arg1871Leu) |
single nucleotide variant |
not provided [RCV002269681] |
Chr16:1218376 [GRCh38] Chr16:1268376 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002266745] |
Chr16:1219050 [GRCh38] Chr16:1269050 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3241G>A (p.Ala1081Thr) |
single nucleotide variant |
not provided [RCV002275444] |
Chr16:1208099 [GRCh38] Chr16:1258099 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003101536]|not provided [RCV002269692] |
Chr16:1153970 [GRCh38] Chr16:1203970 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2789+5G>A |
single nucleotide variant |
See cases [RCV002287676] |
Chr16:1206294 [GRCh38] Chr16:1256294 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3155-64T>C |
single nucleotide variant |
not provided [RCV002285722] |
Chr16:1207949 [GRCh38] Chr16:1257949 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3873C>T (p.Ile1291=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366268] |
Chr16:1210397 [GRCh38] Chr16:1260397 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3004G>C (p.Gly1002Arg) |
single nucleotide variant |
not provided [RCV002292016] |
Chr16:1207371 [GRCh38] Chr16:1257371 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4028T>C (p.Met1343Thr) |
single nucleotide variant |
not provided [RCV002265519] |
Chr16:1210641 [GRCh38] Chr16:1260641 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4742T>G (p.Leu1581Arg) |
single nucleotide variant |
not provided [RCV002269652] |
Chr16:1212121 [GRCh38] Chr16:1262121 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3744+197C>T |
single nucleotide variant |
not provided [RCV002285730] |
Chr16:1209609 [GRCh38] Chr16:1259609 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 |
copy number gain |
See cases [RCV002292215] |
Chr16:111043..6627459 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.888C>A (p.Asp296Glu) |
single nucleotide variant |
not provided [RCV002293750] |
Chr16:1200340 [GRCh38] Chr16:1250340 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4148T>C (p.Met1383Thr) |
single nucleotide variant |
not provided [RCV002281238] |
Chr16:1210896 [GRCh38] Chr16:1260896 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4423G>C (p.Ala1475Pro) |
single nucleotide variant |
not provided [RCV002274680] |
Chr16:1211553 [GRCh38] Chr16:1261553 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3090C>A (p.Asp1030Glu) |
single nucleotide variant |
not provided [RCV002281482] |
Chr16:1207796 [GRCh38] Chr16:1257796 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5418G>A (p.Thr1806=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349453] |
Chr16:1218013 [GRCh38] Chr16:1268013 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-198C>T |
single nucleotide variant |
not provided [RCV002285625] |
Chr16:1200058 [GRCh38] Chr16:1250058 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.592A>G (p.Ile198Val) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002266691] |
Chr16:1195972 [GRCh38] Chr16:1245972 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2780T>C (p.Phe927Ser) |
single nucleotide variant |
not provided [RCV002267461] |
Chr16:1206280 [GRCh38] Chr16:1256280 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3343C>G (p.Leu1115Val) |
single nucleotide variant |
not provided [RCV002293604] |
Chr16:1208201 [GRCh38] Chr16:1258201 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2776A>C (p.Ile926Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002297262] |
Chr16:1206276 [GRCh38] Chr16:1256276 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4911G>A (p.Glu1637=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003096526]|Inborn genetic diseases [RCV002351221] |
Chr16:1213913 [GRCh38] Chr16:1263913 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1728C>T (p.Tyr576=) |
single nucleotide variant |
CACNA1H-related condition [RCV003971290]|Inborn genetic diseases [RCV002414843] |
Chr16:1202178 [GRCh38] Chr16:1252178 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 |
copy number loss |
not provided [RCV002474576] |
Chr16:85881..1350186 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.5282T>C (p.Phe1761Ser) |
single nucleotide variant |
not provided [RCV002464933] |
Chr16:1216969 [GRCh38] Chr16:1266969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.172C>G (p.Arg58Gly) |
single nucleotide variant |
not provided [RCV002467194] |
Chr16:1153909 [GRCh38] Chr16:1203909 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5935C>T (p.Leu1979Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002302333] |
Chr16:1219017 [GRCh38] Chr16:1269017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 |
copy number gain |
not provided [RCV002473769] |
Chr16:1129080..2021055 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV002466362] |
Chr16:1202104 [GRCh38] Chr16:1252104 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.5408G>A (p.Arg1803His) |
single nucleotide variant |
not provided [RCV003156574] |
Chr16:1218003 [GRCh38] Chr16:1268003 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1647G>T (p.Arg549Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002300202] |
Chr16:1202097 [GRCh38] Chr16:1252097 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4162G>A (p.Gly1388Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002303868] |
Chr16:1210910 [GRCh38] Chr16:1260910 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6290C>T (p.Ala2097Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002303893] |
Chr16:1220222 [GRCh38] Chr16:1270222 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3536C>G (p.Ala1179Gly) |
single nucleotide variant |
not provided [RCV002469504] |
Chr16:1209204 [GRCh38] Chr16:1259204 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1098C>T (p.Tyr366=) |
single nucleotide variant |
Inborn genetic diseases [RCV002459921] |
Chr16:1200550 [GRCh38] Chr16:1250550 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1181A>G (p.Tyr394Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002303442] |
Chr16:1200777 [GRCh38] Chr16:1250777 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3338C>G (p.Pro1113Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002295931] |
Chr16:1208196 [GRCh38] Chr16:1258196 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3081C>G (p.Ser1027=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003102302]|Inborn genetic diseases [RCV002319887] |
Chr16:1207787 [GRCh38] Chr16:1257787 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4528_4536delinsCTT (p.Met1510_Asp1512delinsLeu) |
indel |
not provided [RCV002300752] |
Chr16:1211767..1211775 [GRCh38] Chr16:1261767..1261775 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.443C>G (p.Ala148Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002294978] |
Chr16:1195463 [GRCh38] Chr16:1245463 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002296693] |
Chr16:1218568 [GRCh38] Chr16:1268568 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3516G>A (p.Lys1172=) |
single nucleotide variant |
Inborn genetic diseases [RCV002459265] |
Chr16:1209184 [GRCh38] Chr16:1259184 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3588C>T (p.Ala1196=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003775673]|Inborn genetic diseases [RCV002339821] |
Chr16:1209256 [GRCh38] Chr16:1259256 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.989T>C (p.Val330Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002296811] |
Chr16:1200441 [GRCh38] Chr16:1250441 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3280C>T (p.Leu1094=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325067] |
Chr16:1208138 [GRCh38] Chr16:1258138 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2420C>A (p.Thr807Lys) |
single nucleotide variant |
not provided [RCV002306298] |
Chr16:1204427 [GRCh38] Chr16:1254427 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3249G>A (p.Thr1083=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003120894]|Inborn genetic diseases [RCV002324852] |
Chr16:1208107 [GRCh38] Chr16:1258107 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.384C>G (p.Cys128Trp) |
single nucleotide variant |
not provided [RCV002300919] |
Chr16:1195056 [GRCh38] Chr16:1245056 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5579T>C (p.Met1860Thr) |
single nucleotide variant |
not provided [RCV002306073] |
Chr16:1218343 [GRCh38] Chr16:1268343 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.975G>A (p.Pro325=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003774208]|Inborn genetic diseases [RCV002376762] |
Chr16:1200427 [GRCh38] Chr16:1250427 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3035C>G (p.Ala1012Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002303016] |
Chr16:1207402 [GRCh38] Chr16:1257402 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1161C>G (p.Val387=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321152] |
Chr16:1200757 [GRCh38] Chr16:1250757 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4505C>T (p.Ser1502Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002301450] |
Chr16:1211744 [GRCh38] Chr16:1261744 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.842C>G (p.Thr281Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002298193] |
Chr16:1200294 [GRCh38] Chr16:1250294 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.915C>A (p.Ile305=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003014422] |
Chr16:1200367 [GRCh38] Chr16:1250367 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3232A>C (p.Met1078Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002727540] |
Chr16:1208090 [GRCh38] Chr16:1258090 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1490G>A (p.Gly497Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003075185] |
Chr16:1201940 [GRCh38] Chr16:1251940 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.7041T>C (p.Gly2347=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002750207] |
Chr16:1220973 [GRCh38] Chr16:1270973 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6061A>G (p.Thr2021Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002750663] |
Chr16:1219993 [GRCh38] Chr16:1269993 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003103149]|not provided [RCV002462766] |
Chr16:1202290 [GRCh38] Chr16:1252290 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002751485]|not specified [RCV003321958] |
Chr16:1204367 [GRCh38] Chr16:1254367 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3865A>T (p.Lys1289Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003032843] |
Chr16:1210389 [GRCh38] Chr16:1260389 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.220G>T (p.Ala74Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002776742] |
Chr16:1153957 [GRCh38] Chr16:1203957 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.243C>T (p.Phe81=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003015435] |
Chr16:1153980 [GRCh38] Chr16:1203980 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-11T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002971170] |
Chr16:1200705 [GRCh38] Chr16:1250705 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6676A>C (p.Thr2226Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002683425] |
Chr16:1220608 [GRCh38] Chr16:1270608 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5352C>T (p.Gly1784=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002967794] |
Chr16:1217947 [GRCh38] Chr16:1267947 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4124C>A (p.Ser1375Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002728029] |
Chr16:1210872 [GRCh38] Chr16:1260872 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6260G>A (p.Gly2087Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003074334] |
Chr16:1220192 [GRCh38] Chr16:1270192 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.717C>T (p.Phe239=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002995793] |
Chr16:1198688 [GRCh38] Chr16:1248688 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002776141] |
Chr16:1201978 [GRCh38] Chr16:1251978 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1120-10G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002967928] |
Chr16:1200706 [GRCh38] Chr16:1250706 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4188C>T (p.Arg1396=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002727220] |
Chr16:1210936 [GRCh38] Chr16:1260936 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4317C>T (p.Ala1439=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002616126] |
Chr16:1211261 [GRCh38] Chr16:1261261 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3836C>T (p.Pro1279Leu) |
single nucleotide variant |
not provided [RCV002511352] |
Chr16:1210126 [GRCh38] Chr16:1260126 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.795C>G (p.Ala265=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002726736] |
Chr16:1198766 [GRCh38] Chr16:1248766 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4245C>T (p.Gly1415=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002726740] |
Chr16:1211189 [GRCh38] Chr16:1261189 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1314A>G (p.Ala438=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002771154] |
Chr16:1201764 [GRCh38] Chr16:1251764 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5199G>A (p.Thr1733=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002903236] |
Chr16:1215548 [GRCh38] Chr16:1265548 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5323+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002995306] |
Chr16:1217025 [GRCh38] Chr16:1267025 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002726771]|not provided [RCV003235739] |
Chr16:1211499 [GRCh38] Chr16:1261499 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1170C>T (p.Ala390=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002993544] |
Chr16:1200766 [GRCh38] Chr16:1250766 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3072C>T (p.Ala1024=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003033694] |
Chr16:1207778 [GRCh38] Chr16:1257778 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del) |
deletion |
Idiopathic generalized epilepsy [RCV002996615] |
Chr16:1210423..1210425 [GRCh38] Chr16:1260423..1260425 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2285_2300dup (p.Ala768fs) |
duplication |
Idiopathic generalized epilepsy [RCV002819913] |
Chr16:1204288..1204289 [GRCh38] Chr16:1254288..1254289 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1396C>T (p.His466Tyr) |
single nucleotide variant |
not provided [RCV002462390] |
Chr16:1201846 [GRCh38] Chr16:1251846 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3363+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002907922] |
Chr16:1208236 [GRCh38] Chr16:1258236 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3601C>T (p.Pro1201Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002948273] |
Chr16:1209269 [GRCh38] Chr16:1259269 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.7000G>T (p.Glu2334Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002755239] |
Chr16:1220932 [GRCh38] Chr16:1270932 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5949G>T (p.Leu1983Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002777569] |
Chr16:1219031 [GRCh38] Chr16:1269031 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6180C>T (p.Arg2060=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003017286] |
Chr16:1220112 [GRCh38] Chr16:1270112 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.7009G>T (p.Gly2337Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002838546] |
Chr16:1220941 [GRCh38] Chr16:1270941 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5784C>T (p.Pro1928=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002902923] |
Chr16:1218548 [GRCh38] Chr16:1268548 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3383C>T (p.Pro1128Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002776724] |
Chr16:1209051 [GRCh38] Chr16:1259051 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3577_3578delinsTA (p.Leu1193Ter) |
indel |
Idiopathic generalized epilepsy [RCV002881911] |
Chr16:1209245..1209246 [GRCh38] Chr16:1259245..1259246 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3336C>A (p.Asp1112Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002755314] |
Chr16:1208194 [GRCh38] Chr16:1258194 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4778-16G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002755616] |
Chr16:1213764 [GRCh38] Chr16:1263764 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+14C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002908010] |
Chr16:1205279 [GRCh38] Chr16:1255279 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6632G>A (p.Gly2211Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002756631] |
Chr16:1220564 [GRCh38] Chr16:1270564 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4099C>T (p.Leu1367=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003077118] |
Chr16:1210847 [GRCh38] Chr16:1260847 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002755502] |
Chr16:1207342 [GRCh38] Chr16:1257342 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6614G>A (p.Arg2205Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002755516] |
Chr16:1220546 [GRCh38] Chr16:1270546 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2092A>C (p.Lys698Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002974832] |
Chr16:1204099 [GRCh38] Chr16:1254099 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3488G>A (p.Arg1163His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002616010] |
Chr16:1209156 [GRCh38] Chr16:1259156 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3833C>G (p.Ser1278Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002907805] |
Chr16:1210123 [GRCh38] Chr16:1260123 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.312C>G (p.His104Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003075684] |
Chr16:1194984 [GRCh38] Chr16:1244984 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5587C>T (p.Leu1863=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002615938] |
Chr16:1218351 [GRCh38] Chr16:1268351 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.411+18_411+40del |
deletion |
Idiopathic generalized epilepsy [RCV003075072] |
Chr16:1195091..1195113 [GRCh38] Chr16:1245091..1245113 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3154+15T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003075092] |
Chr16:1207875 [GRCh38] Chr16:1257875 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6420T>C (p.Ala2140=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002686398] |
Chr16:1220352 [GRCh38] Chr16:1270352 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6326G>T (p.Cys2109Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002687680] |
Chr16:1220258 [GRCh38] Chr16:1270258 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6344C>T (p.Ala2115Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002687681] |
Chr16:1220276 [GRCh38] Chr16:1270276 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5446-19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003095396] |
Chr16:1218191 [GRCh38] Chr16:1268191 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2064C>G (p.Pro688=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003015391] |
Chr16:1204071 [GRCh38] Chr16:1254071 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3450T>C (p.Arg1150=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002995965] |
Chr16:1209118 [GRCh38] Chr16:1259118 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3651C>A (p.Arg1217=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002842419] |
Chr16:1209319 [GRCh38] Chr16:1259319 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4947C>G (p.Leu1649=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003075804] |
Chr16:1214989 [GRCh38] Chr16:1264989 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.568G>A (p.Gly190Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002904344] |
Chr16:1195948 [GRCh38] Chr16:1245948 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1990G>A (p.Val664Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002842232] |
Chr16:1202440 [GRCh38] Chr16:1252440 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1185C>T (p.Asn395=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003075814] |
Chr16:1200781 [GRCh38] Chr16:1250781 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.875C>T (p.Ser292Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002616027] |
Chr16:1200327 [GRCh38] Chr16:1250327 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6048+17G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002993510] |
Chr16:1219147 [GRCh38] Chr16:1269147 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002880748] |
Chr16:1212546 [GRCh38] Chr16:1262546 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6011C>A (p.Ala2004Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002995385] |
Chr16:1219093 [GRCh38] Chr16:1269093 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4905C>T (p.Ser1635=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002972150] |
Chr16:1213907 [GRCh38] Chr16:1263907 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.260C>T (p.Thr87Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003074968] |
Chr16:1153997 [GRCh38] Chr16:1203997 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.422C>T (p.Ala141Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003033005] |
Chr16:1195442 [GRCh38] Chr16:1245442 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003146655]|Idiopathic generalized epilepsy [RCV002907880] |
Chr16:1201750 [GRCh38] Chr16:1251750 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5173+5GTGCCCGC[3] |
microsatellite |
Idiopathic generalized epilepsy [RCV003034536] |
Chr16:1215379..1215380 [GRCh38] Chr16:1265379..1265380 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5455C>T (p.Arg1819Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003016554] |
Chr16:1218219 [GRCh38] Chr16:1268219 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3214C>T (p.Leu1072=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002971261] |
Chr16:1208072 [GRCh38] Chr16:1258072 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2174G>A (p.Arg725His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002755979] |
Chr16:1204181 [GRCh38] Chr16:1254181 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3086C>G (p.Thr1029Arg) |
single nucleotide variant |
not provided [RCV002462682] |
Chr16:1207792 [GRCh38] Chr16:1257792 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4759+20G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002971397] |
Chr16:1212158 [GRCh38] Chr16:1262158 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2725G>T (p.Val909Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003034594] |
Chr16:1206225 [GRCh38] Chr16:1256225 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3155-14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002842574] |
Chr16:1207999 [GRCh38] Chr16:1257999 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+14G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002863421] |
Chr16:1213945 [GRCh38] Chr16:1263945 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2736G>T (p.Met912Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003016964] |
Chr16:1206236 [GRCh38] Chr16:1256236 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3745-12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003076833] |
Chr16:1210023 [GRCh38] Chr16:1260023 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2907+19G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002908135] |
Chr16:1207137 [GRCh38] Chr16:1257137 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2246C>T (p.Thr749Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002946216] |
Chr16:1204253 [GRCh38] Chr16:1254253 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4223+8del |
deletion |
Idiopathic generalized epilepsy [RCV002617391] |
Chr16:1210974 [GRCh38] Chr16:1260974 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5786A>G (p.Asn1929Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002904202] |
Chr16:1218550 [GRCh38] Chr16:1268550 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2908-15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002614638] |
Chr16:1207260 [GRCh38] Chr16:1257260 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2881C>A (p.Leu961Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002728028] |
Chr16:1207092 [GRCh38] Chr16:1257092 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2740A>G (p.Asn914Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003777857]|Inborn genetic diseases [RCV002841860] |
Chr16:1206240 [GRCh38] Chr16:1256240 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1320C>T (p.His440=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002662887] |
Chr16:1201770 [GRCh38] Chr16:1251770 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4760-17T>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002927365] |
Chr16:1212494 [GRCh38] Chr16:1262494 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+1G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002871289] |
Chr16:1212529 [GRCh38] Chr16:1262529 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5501C>T (p.Ala1834Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002761104] |
Chr16:1218265 [GRCh38] Chr16:1268265 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002953217]|Inborn genetic diseases [RCV002953216] |
Chr16:1211538 [GRCh38] Chr16:1261538 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6662C>G (p.Pro2221Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002619424] |
Chr16:1220594 [GRCh38] Chr16:1270594 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6717_6893del (p.Gly2241_Ala2299del) |
deletion |
Idiopathic generalized epilepsy [RCV002867289] |
Chr16:1220644..1220820 [GRCh38] Chr16:1270644..1270820 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002871203] |
Chr16:1207426 [GRCh38] Chr16:1257426 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1212+11G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002871554] |
Chr16:1200819 [GRCh38] Chr16:1250819 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1950C>T (p.Ser650=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003022105] |
Chr16:1202400 [GRCh38] Chr16:1252400 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+20G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002663118] |
Chr16:1198794 [GRCh38] Chr16:1248794 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2199C>A (p.Asp733Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002927590] |
Chr16:1204206 [GRCh38] Chr16:1254206 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.692G>T (p.Gly231Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002591669] |
Chr16:1198663 [GRCh38] Chr16:1248663 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6636C>T (p.Gly2212=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003079975] |
Chr16:1220568 [GRCh38] Chr16:1270568 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1260G>T (p.Thr420=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002953741] |
Chr16:1201710 [GRCh38] Chr16:1251710 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4406C>G (p.Thr1469Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002927913] |
Chr16:1211536 [GRCh38] Chr16:1261536 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1338G>A (p.Thr446=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003081544] |
Chr16:1201788 [GRCh38] Chr16:1251788 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.113_114delinsTT (p.Arg38Leu) |
indel |
Idiopathic generalized epilepsy [RCV002825285] |
Chr16:1153850..1153851 [GRCh38] Chr16:1203850..1203851 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.412-19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003000113] |
Chr16:1195413 [GRCh38] Chr16:1245413 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003022001] |
Chr16:1218514 [GRCh38] Chr16:1268514 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2628G>A (p.Ala876=) |
single nucleotide variant |
CACNA1H-related condition [RCV003926517]|Idiopathic generalized epilepsy [RCV002909391] |
Chr16:1206128 [GRCh38] Chr16:1256128 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1703A>T (p.Asp568Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002825238] |
Chr16:1202153 [GRCh38] Chr16:1252153 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5958G>T (p.Ser1986=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002795983] |
Chr16:1219040 [GRCh38] Chr16:1269040 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3558C>G (p.Pro1186=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003019127] |
Chr16:1209226 [GRCh38] Chr16:1259226 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4789C>G (p.Arg1597Gly) |
single nucleotide variant |
not provided [RCV002510095] |
Chr16:1213791 [GRCh38] Chr16:1263791 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6473C>T (p.Ala2158Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002923773] |
Chr16:1220405 [GRCh38] Chr16:1270405 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6565C>G (p.Pro2189Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002867309] |
Chr16:1220497 [GRCh38] Chr16:1270497 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5476A>C (p.Lys1826Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002823520] |
Chr16:1218240 [GRCh38] Chr16:1268240 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1736A>G (p.Asp579Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002884700] |
Chr16:1202186 [GRCh38] Chr16:1252186 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.927C>A (p.Arg309=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002636435] |
Chr16:1200379 [GRCh38] Chr16:1250379 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.92A>G (p.Glu31Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002887267] |
Chr16:1153829 [GRCh38] Chr16:1203829 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3993C>T (p.Ser1331=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002797013] |
Chr16:1210606 [GRCh38] Chr16:1260606 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5974G>C (p.Gly1992Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002705900] |
Chr16:1219056 [GRCh38] Chr16:1269056 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6665C>A (p.Ser2222Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003020490] |
Chr16:1220597 [GRCh38] Chr16:1270597 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6671A>G (p.Glu2224Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002692606] |
Chr16:1220603 [GRCh38] Chr16:1270603 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4811C>T (p.Ser1604Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002998407] |
Chr16:1213813 [GRCh38] Chr16:1263813 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3129C>G (p.His1043Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003078206] |
Chr16:1207835 [GRCh38] Chr16:1257835 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1231A>G (p.Ile411Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002759157] |
Chr16:1201681 [GRCh38] Chr16:1251681 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1350C>T (p.Phe450=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002637298] |
Chr16:1201800 [GRCh38] Chr16:1251800 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.299+10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002637314] |
Chr16:1154046 [GRCh38] Chr16:1204046 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4752G>T (p.Arg1584Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002820562] |
Chr16:1212131 [GRCh38] Chr16:1262131 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002780971]|not provided [RCV003235743] |
Chr16:1220479 [GRCh38] Chr16:1270479 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002760573]|Inborn genetic diseases [RCV002735751] |
Chr16:1218462 [GRCh38] Chr16:1268462 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6703A>G (p.Thr2235Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002885276] |
Chr16:1220635 [GRCh38] Chr16:1270635 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3846-18C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002756890] |
Chr16:1210352 [GRCh38] Chr16:1260352 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002637133] |
Chr16:1213948 [GRCh38] Chr16:1263948 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3198G>A (p.Leu1066=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002590596] |
Chr16:1208056 [GRCh38] Chr16:1258056 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1338G>C (p.Thr446=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002735723] |
Chr16:1201788 [GRCh38] Chr16:1251788 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-5T>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002886438] |
Chr16:1205109 [GRCh38] Chr16:1255109 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4096C>T (p.Leu1366=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002659628] |
Chr16:1210844 [GRCh38] Chr16:1260844 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5887+11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002913509] |
Chr16:1218662 [GRCh38] Chr16:1268662 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002637420] |
Chr16:1205284 [GRCh38] Chr16:1255284 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1438G>A (p.Ala480Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002949493] |
Chr16:1201888 [GRCh38] Chr16:1251888 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4351-16C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002885973] |
Chr16:1211465 [GRCh38] Chr16:1261465 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2388C>T (p.Ser796=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002571657] |
Chr16:1204395 [GRCh38] Chr16:1254395 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2320T>C (p.Trp774Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002756992] |
Chr16:1204327 [GRCh38] Chr16:1254327 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002637520] |
Chr16:1202038 [GRCh38] Chr16:1252038 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6057G>A (p.Val2019=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002867904] |
Chr16:1219989 [GRCh38] Chr16:1269989 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5097G>A (p.Glu1699=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002781495] |
Chr16:1215299 [GRCh38] Chr16:1265299 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5040-20C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002952578] |
Chr16:1215222 [GRCh38] Chr16:1265222 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3846-32_3846-12del |
deletion |
Idiopathic generalized epilepsy [RCV002913074] |
Chr16:1210331..1210351 [GRCh38] Chr16:1260331..1260351 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2510C>T (p.Ala837Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003077560] |
Chr16:1205172 [GRCh38] Chr16:1255172 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3064-18G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002637304] |
Chr16:1207752 [GRCh38] Chr16:1257752 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4223+15G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002952600] |
Chr16:1210986 [GRCh38] Chr16:1260986 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-20T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002761391] |
Chr16:1194952 [GRCh38] Chr16:1244952 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.913A>G (p.Ile305Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003002488] |
Chr16:1200365 [GRCh38] Chr16:1250365 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002736277] |
Chr16:1208144 [GRCh38] Chr16:1258144 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5657A>G (p.Gln1886Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002736519] |
Chr16:1218421 [GRCh38] Chr16:1268421 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2481C>A (p.Ile827=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002638868] |
Chr16:1205143 [GRCh38] Chr16:1255143 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5151G>A (p.Met1717Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002638869] |
Chr16:1215353 [GRCh38] Chr16:1265353 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3149C>T (p.Thr1050Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002869642] |
Chr16:1207855 [GRCh38] Chr16:1257855 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5631C>T (p.Asp1877=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002780466] |
Chr16:1218395 [GRCh38] Chr16:1268395 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4739G>C (p.Arg1580Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002868421] |
Chr16:1212118 [GRCh38] Chr16:1262118 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.176G>C (p.Gly59Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002798736] |
Chr16:1153913 [GRCh38] Chr16:1203913 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4353C>T (p.Leu1451=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002781240] |
Chr16:1211483 [GRCh38] Chr16:1261483 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003778609]|Inborn genetic diseases [RCV002739035] |
Chr16:1220575 [GRCh38] Chr16:1270575 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.4351-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002736324] |
Chr16:1211465 [GRCh38] Chr16:1261465 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003080197] |
Chr16:1212102 [GRCh38] Chr16:1262102 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1318C>T (p.His440Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002705857]|Inborn genetic diseases [RCV002705858] |
Chr16:1201768 [GRCh38] Chr16:1251768 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.300-10G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002795755] |
Chr16:1194962 [GRCh38] Chr16:1244962 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2233C>T (p.Pro745Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002695356] |
Chr16:1204240 [GRCh38] Chr16:1254240 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5869G>A (p.Gly1957Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002785438] |
Chr16:1218633 [GRCh38] Chr16:1268633 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.618C>G (p.Pro206=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002736649] |
Chr16:1195998 [GRCh38] Chr16:1245998 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002820876] |
Chr16:1205098 [GRCh38] Chr16:1255098 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2660G>A (p.Arg887Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003100511] |
Chr16:1206160 [GRCh38] Chr16:1256160 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2305C>T (p.Pro769Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002923370] |
Chr16:1204312 [GRCh38] Chr16:1254312 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002705935] |
Chr16:1153754 [GRCh38] Chr16:1203754 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2862G>A (p.Arg954=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002797203] |
Chr16:1207073 [GRCh38] Chr16:1257073 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.723C>T (p.Phe241=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002791331] |
Chr16:1198694 [GRCh38] Chr16:1248694 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4002C>G (p.Ile1334Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003057967] |
Chr16:1210615 [GRCh38] Chr16:1260615 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4832A>C (p.His1611Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003008138] |
Chr16:1213834 [GRCh38] Chr16:1263834 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6554A>G (p.Lys2185Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002576358] |
Chr16:1220486 [GRCh38] Chr16:1270486 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3372C>T (p.Leu1124=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003026208] |
Chr16:1209040 [GRCh38] Chr16:1259040 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5142C>T (p.Ile1714=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002596219] |
Chr16:1215344 [GRCh38] Chr16:1265344 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6187C>G (p.Arg2063Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002701279] |
Chr16:1220119 [GRCh38] Chr16:1270119 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3451G>T (p.Ala1151Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002933225] |
Chr16:1209119 [GRCh38] Chr16:1259119 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6850G>A (p.Gly2284Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002918385] |
Chr16:1220782 [GRCh38] Chr16:1270782 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2958C>G (p.Ser986=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003008364] |
Chr16:1207325 [GRCh38] Chr16:1257325 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-20G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003022476] |
Chr16:1210767 [GRCh38] Chr16:1260767 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002667535] |
Chr16:1201653 [GRCh38] Chr16:1251653 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.423C>T (p.Ala141=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002644238] |
Chr16:1195443 [GRCh38] Chr16:1245443 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6440C>A (p.Pro2147Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002958961] |
Chr16:1220372 [GRCh38] Chr16:1270372 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.297C>T (p.Asn99=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002595215] |
Chr16:1154034 [GRCh38] Chr16:1204034 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2604-4G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003026257] |
Chr16:1206100 [GRCh38] Chr16:1256100 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6408C>T (p.Tyr2136=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002791128] |
Chr16:1220340 [GRCh38] Chr16:1270340 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6677C>G (p.Thr2226Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002709201] |
Chr16:1220609 [GRCh38] Chr16:1270609 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4788C>T (p.Arg1596=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003040576] |
Chr16:1213790 [GRCh38] Chr16:1263790 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4039-20_4039-19delinsAA |
indel |
Idiopathic generalized epilepsy [RCV002664132] |
Chr16:1210767..1210768 [GRCh38] Chr16:1260767..1260768 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.351G>A (p.Leu117=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002766874] |
Chr16:1195023 [GRCh38] Chr16:1245023 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002918541]|not provided [RCV003395536] |
Chr16:1200544 [GRCh38] Chr16:1250544 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.4929+15_4929+25dup |
duplication |
Idiopathic generalized epilepsy [RCV002626958] |
Chr16:1213937..1213938 [GRCh38] Chr16:1263937..1263938 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.600C>T (p.Thr200=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002933392] |
Chr16:1195980 [GRCh38] Chr16:1245980 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3836C>A (p.Pro1279Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002893325] |
Chr16:1210126 [GRCh38] Chr16:1260126 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4351C>T (p.Leu1451Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002712956] |
Chr16:1211481 [GRCh38] Chr16:1261481 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6458A>C (p.Gln2153Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002955147] |
Chr16:1220390 [GRCh38] Chr16:1270390 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3691C>T (p.Arg1231Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002574410] |
Chr16:1209359 [GRCh38] Chr16:1259359 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1175C>G (p.Ser392Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002919197] |
Chr16:1200771 [GRCh38] Chr16:1250771 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.949C>T (p.Leu317=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003024824] |
Chr16:1200401 [GRCh38] Chr16:1250401 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2482A>G (p.Ser828Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002710350] |
Chr16:1205144 [GRCh38] Chr16:1255144 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4617G>A (p.Leu1539=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003041349] |
Chr16:1211996 [GRCh38] Chr16:1261996 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3578T>A (p.Leu1193Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002954187] |
Chr16:1209246 [GRCh38] Chr16:1259246 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2002+18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002572358] |
Chr16:1202470 [GRCh38] Chr16:1252470 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2295G>C (p.Gln765His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002957556] |
Chr16:1204302 [GRCh38] Chr16:1254302 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1726T>C (p.Tyr576His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002624150]|Inborn genetic diseases [RCV002624149] |
Chr16:1202176 [GRCh38] Chr16:1252176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6229_6230delinsTA (p.Arg2077Tyr) |
indel |
Idiopathic generalized epilepsy [RCV002593828] |
Chr16:1220161..1220162 [GRCh38] Chr16:1270161..1270162 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2452-8G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002982556] |
Chr16:1205106 [GRCh38] Chr16:1255106 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5887+15A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003082464] |
Chr16:1218666 [GRCh38] Chr16:1268666 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6770G>C (p.Arg2257Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003041066] |
Chr16:1220702 [GRCh38] Chr16:1270702 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2165C>T (p.Ser722Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002800954] |
Chr16:1204172 [GRCh38] Chr16:1254172 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.90G>A (p.Pro30=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002852350] |
Chr16:1153827 [GRCh38] Chr16:1203827 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2604-10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002829149] |
Chr16:1206094 [GRCh38] Chr16:1256094 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.412-7C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002928543] |
Chr16:1195425 [GRCh38] Chr16:1245425 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2255C>A (p.Pro752Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002801881] |
Chr16:1204262 [GRCh38] Chr16:1254262 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5323+20T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002573743] |
Chr16:1217030 [GRCh38] Chr16:1267030 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6107A>C (p.Asp2036Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002890361] |
Chr16:1220039 [GRCh38] Chr16:1270039 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.99C>T (p.Pro33=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002710725] |
Chr16:1153836 [GRCh38] Chr16:1203836 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5783C>T (p.Pro1928Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002828849] |
Chr16:1218547 [GRCh38] Chr16:1268547 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.509C>T (p.Thr170Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003084490] |
Chr16:1195529 [GRCh38] Chr16:1245529 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4235G>A (p.Arg1412Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002595471] |
Chr16:1211179 [GRCh38] Chr16:1261179 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.650G>A (p.Arg217Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002766171] |
Chr16:1198621 [GRCh38] Chr16:1248621 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5619T>C (p.Asp1873=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002851654] |
Chr16:1218383 [GRCh38] Chr16:1268383 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4288A>G (p.Ile1430Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002957496] |
Chr16:1211232 [GRCh38] Chr16:1261232 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2010C>T (p.Gly670=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003056868] |
Chr16:1204017 [GRCh38] Chr16:1254017 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3424C>T (p.Arg1142Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002786686] |
Chr16:1209092 [GRCh38] Chr16:1259092 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4759+12_4759+23del |
deletion |
Idiopathic generalized epilepsy [RCV002710486] |
Chr16:1212150..1212161 [GRCh38] Chr16:1262150..1262161 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+7G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002852615] |
Chr16:1212535 [GRCh38] Chr16:1262535 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.484G>A (p.Gly162Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002767581] |
Chr16:1195504 [GRCh38] Chr16:1245504 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5691C>A (p.Asp1897Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002917277] |
Chr16:1218455 [GRCh38] Chr16:1268455 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4391C>T (p.Thr1464Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002595668] |
Chr16:1211521 [GRCh38] Chr16:1261521 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4709C>G (p.Ala1570Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002596539] |
Chr16:1212088 [GRCh38] Chr16:1262088 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3745-15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002931966] |
Chr16:1210020 [GRCh38] Chr16:1260020 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1611C>T (p.Arg537=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002664097] |
Chr16:1202061 [GRCh38] Chr16:1252061 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4384C>A (p.Pro1462Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002891868] |
Chr16:1211514 [GRCh38] Chr16:1261514 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3429C>T (p.Ser1143=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002890613] |
Chr16:1209097 [GRCh38] Chr16:1259097 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.852C>T (p.Gly284=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002626846] |
Chr16:1200304 [GRCh38] Chr16:1250304 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.250G>T (p.Gly84Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003007811] |
Chr16:1153987 [GRCh38] Chr16:1203987 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4833C>T (p.His1611=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002595277] |
Chr16:1213835 [GRCh38] Chr16:1263835 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3845+17A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003085487] |
Chr16:1210152 [GRCh38] Chr16:1260152 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002982169]|Inborn genetic diseases [RCV002982168] |
Chr16:1210883 [GRCh38] Chr16:1260883 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5445+20C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002982670] |
Chr16:1218060 [GRCh38] Chr16:1268060 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4821C>T (p.Arg1607=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003025917] |
Chr16:1213823 [GRCh38] Chr16:1263823 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5324-7C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003057140] |
Chr16:1217912 [GRCh38] Chr16:1267912 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.720C>T (p.Val240=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002572768] |
Chr16:1198691 [GRCh38] Chr16:1248691 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2077C>A (p.Leu693Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002957555] |
Chr16:1204084 [GRCh38] Chr16:1254084 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002928498]|Inborn genetic diseases [RCV003170624] |
Chr16:1212523 [GRCh38] Chr16:1262523 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1991T>G (p.Val664Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003057845] |
Chr16:1202441 [GRCh38] Chr16:1252441 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002805337] |
Chr16:1153844 [GRCh38] Chr16:1203844 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5596A>C (p.Ser1866Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003055935] |
Chr16:1218360 [GRCh38] Chr16:1268360 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.272G>C (p.Ser91Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002572792] |
Chr16:1154009 [GRCh38] Chr16:1204009 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5314G>A (p.Gly1772Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002743745] |
Chr16:1217001 [GRCh38] Chr16:1267001 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6031C>A (p.Arg2011=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003084578] |
Chr16:1219113 [GRCh38] Chr16:1269113 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4224-8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002957984] |
Chr16:1211160 [GRCh38] Chr16:1261160 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5174-8G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002932303] |
Chr16:1215515 [GRCh38] Chr16:1265515 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5164A>G (p.Ile1722Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003005611] |
Chr16:1215366 [GRCh38] Chr16:1265366 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1902G>A (p.Gly634=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002982128] |
Chr16:1202352 [GRCh38] Chr16:1252352 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2237C>T (p.Pro746Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002917606] |
Chr16:1204244 [GRCh38] Chr16:1254244 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1560C>T (p.His520=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003084049] |
Chr16:1202010 [GRCh38] Chr16:1252010 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1109C>T (p.Ala370Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002626320] |
Chr16:1200561 [GRCh38] Chr16:1250561 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.863C>T (p.Pro288Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002874340] |
Chr16:1200315 [GRCh38] Chr16:1250315 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3849C>T (p.Phe1283=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002954086] |
Chr16:1210373 [GRCh38] Chr16:1260373 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3916C>G (p.Leu1306Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003082579] |
Chr16:1210440 [GRCh38] Chr16:1260440 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4760G>A (p.Ser1587Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003059432] |
Chr16:1212511 [GRCh38] Chr16:1262511 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5425A>G (p.Asn1809Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002850128] |
Chr16:1218020 [GRCh38] Chr16:1268020 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6471G>A (p.Ser2157=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002574570] |
Chr16:1220403 [GRCh38] Chr16:1270403 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6862G>A (p.Val2288Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003025797] |
Chr16:1220794 [GRCh38] Chr16:1270794 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2077C>G (p.Leu693Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002982767] |
Chr16:1204084 [GRCh38] Chr16:1254084 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003084722] |
Chr16:1201985 [GRCh38] Chr16:1251985 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2451+18del |
deletion |
Idiopathic generalized epilepsy [RCV002875600] |
Chr16:1204475 [GRCh38] Chr16:1254475 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3467G>C (p.Arg1156Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002701456] |
Chr16:1209135 [GRCh38] Chr16:1259135 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5245-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003023126] |
Chr16:1216916 [GRCh38] Chr16:1266916 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002932792] |
Chr16:1220424 [GRCh38] Chr16:1270424 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1201C>T (p.Leu401=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002918921] |
Chr16:1200797 [GRCh38] Chr16:1250797 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6569C>T (p.Pro2190Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002790459] |
Chr16:1220501 [GRCh38] Chr16:1270501 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.762C>T (p.Gly254=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002958520] |
Chr16:1198733 [GRCh38] Chr16:1248733 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5085C>T (p.Gly1695=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002720781] |
Chr16:1215287 [GRCh38] Chr16:1265287 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6700C>T (p.Pro2234Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002647575] |
Chr16:1220632 [GRCh38] Chr16:1270632 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3970-8C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003047156] |
Chr16:1210575 [GRCh38] Chr16:1260575 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6391G>A (p.Asp2131Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002813330] |
Chr16:1220323 [GRCh38] Chr16:1270323 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002941876] |
Chr16:1200308 [GRCh38] Chr16:1250308 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1878C>T (p.Gly626=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002899025] |
Chr16:1202328 [GRCh38] Chr16:1252328 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4318T>A (p.Phe1440Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003090668] |
Chr16:1211262 [GRCh38] Chr16:1261262 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5244+14G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002967147] |
Chr16:1215607 [GRCh38] Chr16:1265607 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003777787]|Inborn genetic diseases [RCV002812298]|not specified [RCV003331449] |
Chr16:1202368 [GRCh38] Chr16:1252368 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002651009]|Inborn genetic diseases [RCV002633453] |
Chr16:1220819 [GRCh38] Chr16:1270819 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5244+11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002746756] |
Chr16:1215604 [GRCh38] Chr16:1265604 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1961C>A (p.Pro654His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002646649] |
Chr16:1202411 [GRCh38] Chr16:1252411 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.892G>A (p.Gly298Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002720031] |
Chr16:1200344 [GRCh38] Chr16:1250344 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6049-19T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003048210] |
Chr16:1219962 [GRCh38] Chr16:1269962 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2567C>T (p.Pro856Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002602293] |
Chr16:1205229 [GRCh38] Chr16:1255229 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2603+8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002581531] |
Chr16:1205273 [GRCh38] Chr16:1255273 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2937C>T (p.Val979=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002988460] |
Chr16:1207304 [GRCh38] Chr16:1257304 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4476+11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002647219] |
Chr16:1211617 [GRCh38] Chr16:1261617 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5556G>A (p.Val1852=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003063078] |
Chr16:1218320 [GRCh38] Chr16:1268320 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3044T>C (p.Val1015Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003049372] |
Chr16:1207411 [GRCh38] Chr16:1257411 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6904C>T (p.Pro2302Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002598274] |
Chr16:1220836 [GRCh38] Chr16:1270836 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.7037G>T (p.Gly2346Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002811041] |
Chr16:1220969 [GRCh38] Chr16:1270969 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5659G>A (p.Gly1887Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002834863] |
Chr16:1218423 [GRCh38] Chr16:1268423 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4299C>T (p.Ile1433=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002649453] |
Chr16:1211243 [GRCh38] Chr16:1261243 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6714A>G (p.Ser2238=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003027266] |
Chr16:1220646 [GRCh38] Chr16:1270646 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5436G>A (p.Gly1812=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002770924] |
Chr16:1218031 [GRCh38] Chr16:1268031 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.7023C>G (p.Ala2341=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002675842] |
Chr16:1220955 [GRCh38] Chr16:1270955 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5445+19C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003048925] |
Chr16:1218059 [GRCh38] Chr16:1268059 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002671039] |
Chr16:1209427 [GRCh38] Chr16:1259427 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.129G>C (p.Gly43=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003044357] |
Chr16:1153866 [GRCh38] Chr16:1203866 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6257C>T (p.Pro2086Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002806886] |
Chr16:1220189 [GRCh38] Chr16:1270189 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2994C>A (p.Leu998=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003026380] |
Chr16:1207361 [GRCh38] Chr16:1257361 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2532G>A (p.Leu844=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002628742] |
Chr16:1205194 [GRCh38] Chr16:1255194 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002962805] |
Chr16:1205283 [GRCh38] Chr16:1255283 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003108184]|Inborn genetic diseases [RCV002832312] |
Chr16:1218639 [GRCh38] Chr16:1268639 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.643+8A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003044519] |
Chr16:1196031 [GRCh38] Chr16:1246031 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1191C>A (p.Ile397=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002629193] |
Chr16:1200787 [GRCh38] Chr16:1250787 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+18G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003028044] |
Chr16:1209430 [GRCh38] Chr16:1259430 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5844G>C (p.Leu1948=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002647596] |
Chr16:1218608 [GRCh38] Chr16:1268608 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5062A>G (p.Ile1688Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003060374] |
Chr16:1215264 [GRCh38] Chr16:1265264 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3213C>A (p.Ser1071Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002793268] |
Chr16:1208071 [GRCh38] Chr16:1258071 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1344C>G (p.Ala448=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003029009] |
Chr16:1201794 [GRCh38] Chr16:1251794 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4321T>A (p.Phe1441Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003029029] |
Chr16:1211265 [GRCh38] Chr16:1261265 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.299+18C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002646979] |
Chr16:1154054 [GRCh38] Chr16:1204054 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1215G>A (p.Val405=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002628589] |
Chr16:1201665 [GRCh38] Chr16:1251665 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2451+5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002962654] |
Chr16:1204463 [GRCh38] Chr16:1254463 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4962C>T (p.Tyr1654=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002962655] |
Chr16:1215004 [GRCh38] Chr16:1265004 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2574C>T (p.Asn858=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003063092] |
Chr16:1205236 [GRCh38] Chr16:1255236 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1734C>T (p.Ala578=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003086806] |
Chr16:1202184 [GRCh38] Chr16:1252184 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3317G>A (p.Gly1106Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002807174] |
Chr16:1208175 [GRCh38] Chr16:1258175 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2789+6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002937506] |
Chr16:1206295 [GRCh38] Chr16:1256295 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3604C>G (p.Arg1202Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002934969] |
Chr16:1209272 [GRCh38] Chr16:1259272 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6794G>A (p.Ser2265Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003060488] |
Chr16:1220726 [GRCh38] Chr16:1270726 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6995C>A (p.Pro2332His) |
single nucleotide variant |
not provided [RCV003059976] |
Chr16:1220927 [GRCh38] Chr16:1270927 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1434C>G (p.Leu478=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002746424] |
Chr16:1201884 [GRCh38] Chr16:1251884 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6749G>T (p.Arg2250Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003027554] |
Chr16:1220681 [GRCh38] Chr16:1270681 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6001C>G (p.Arg2001Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003087775] |
Chr16:1219083 [GRCh38] Chr16:1269083 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3154+4C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003088270] |
Chr16:1207864 [GRCh38] Chr16:1257864 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5833C>T (p.Pro1945Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002961899] |
Chr16:1218597 [GRCh38] Chr16:1268597 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3262C>A (p.Pro1088Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003063990] |
Chr16:1208120 [GRCh38] Chr16:1258120 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1662C>T (p.Gly554=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003009108] |
Chr16:1202112 [GRCh38] Chr16:1252112 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002649868] |
Chr16:1200240 [GRCh38] Chr16:1250240 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1943C>T (p.Pro648Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003064297] |
Chr16:1202393 [GRCh38] Chr16:1252393 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2243C>T (p.Ala748Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003064298] |
Chr16:1204250 [GRCh38] Chr16:1254250 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4223+14_4223+24del |
deletion |
Idiopathic generalized epilepsy [RCV003063479] |
Chr16:1210977..1210987 [GRCh38] Chr16:1260977..1260987 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2110A>G (p.Thr704Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002580861] |
Chr16:1204117 [GRCh38] Chr16:1254117 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6766T>G (p.Cys2256Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002963160] |
Chr16:1220698 [GRCh38] Chr16:1270698 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1854C>G (p.Pro618=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002598760] |
Chr16:1202304 [GRCh38] Chr16:1252304 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1940G>A (p.Gly647Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002631860] |
Chr16:1202390 [GRCh38] Chr16:1252390 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.111A>G (p.Gly37=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002812023] |
Chr16:1153848 [GRCh38] Chr16:1203848 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002900658]|Inborn genetic diseases [RCV002900657] |
Chr16:1220792 [GRCh38] Chr16:1270792 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.6021C>T (p.Pro2007=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002857480] |
Chr16:1219103 [GRCh38] Chr16:1269103 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3177C>G (p.Ala1059=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003088300] |
Chr16:1208035 [GRCh38] Chr16:1258035 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2662C>T (p.Leu888=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003029634] |
Chr16:1206162 [GRCh38] Chr16:1256162 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002937502] |
Chr16:1210098 [GRCh38] Chr16:1260098 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1489G>A (p.Gly497Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002831533] |
Chr16:1201939 [GRCh38] Chr16:1251939 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3345G>C (p.Leu1115=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002720814] |
Chr16:1208203 [GRCh38] Chr16:1258203 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3123C>T (p.Asp1041=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003043883] |
Chr16:1207829 [GRCh38] Chr16:1257829 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.300-18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003010128] |
Chr16:1194954 [GRCh38] Chr16:1244954 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.7047_*15dup (p.Ala2349_Ter(2354_?)(?)) |
duplication |
Idiopathic generalized epilepsy [RCV002629314] |
Chr16:1220972..1220973 [GRCh38] Chr16:1270972..1270973 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5370C>T (p.Thr1790=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003090356] |
Chr16:1217965 [GRCh38] Chr16:1267965 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6069C>T (p.Ser2023=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002959261] |
Chr16:1220001 [GRCh38] Chr16:1270001 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3883A>G (p.Met1295Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002856379] |
Chr16:1210407 [GRCh38] Chr16:1260407 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5887+19A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002647761] |
Chr16:1218670 [GRCh38] Chr16:1268670 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2066C>T (p.Pro689Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002630318] |
Chr16:1204073 [GRCh38] Chr16:1254073 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6676A>T (p.Thr2226Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002714425] |
Chr16:1220608 [GRCh38] Chr16:1270608 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3477G>A (p.Gln1159=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002715103] |
Chr16:1209145 [GRCh38] Chr16:1259145 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5953G>T (p.Val1985Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002896651] |
Chr16:1219035 [GRCh38] Chr16:1269035 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2789+11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002939090] |
Chr16:1206300 [GRCh38] Chr16:1256300 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2908-10_2908-4dup |
duplication |
Idiopathic generalized epilepsy [RCV002939091] |
Chr16:1207263..1207264 [GRCh38] Chr16:1257263..1257264 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.804-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003091522] |
Chr16:1200247 [GRCh38] Chr16:1250247 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6822G>A (p.Gly2274=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002578497] |
Chr16:1220754 [GRCh38] Chr16:1270754 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.135G>A (p.Glu45=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002933944] |
Chr16:1153872 [GRCh38] Chr16:1203872 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.752T>C (p.Leu251Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003026726] |
Chr16:1198723 [GRCh38] Chr16:1248723 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2500A>G (p.Ser834Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002810308] |
Chr16:1205162 [GRCh38] Chr16:1255162 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2654C>T (p.Thr885Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003049858] |
Chr16:1206154 [GRCh38] Chr16:1256154 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2330G>A (p.Arg777His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002633667] |
Chr16:1204337 [GRCh38] Chr16:1254337 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2034C>T (p.Gly678=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002942684] |
Chr16:1204041 [GRCh38] Chr16:1254041 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.245G>A (p.Cys82Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002814863] |
Chr16:1153982 [GRCh38] Chr16:1203982 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3468C>A (p.Arg1156=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002583324] |
Chr16:1209136 [GRCh38] Chr16:1259136 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3135C>T (p.Leu1045=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002583379] |
Chr16:1207841 [GRCh38] Chr16:1257841 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5193G>C (p.Met1731Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002679433] |
Chr16:1215542 [GRCh38] Chr16:1265542 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3426C>T (p.Arg1142=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002725819] |
Chr16:1209094 [GRCh38] Chr16:1259094 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6975C>T (p.Tyr2325=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002605528] |
Chr16:1220907 [GRCh38] Chr16:1270907 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.161C>T (p.Pro54Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002635894] |
Chr16:1153898 [GRCh38] Chr16:1203898 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2781C>T (p.Phe927=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002658376] |
Chr16:1206281 [GRCh38] Chr16:1256281 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.850G>A (p.Gly284Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002633466] |
Chr16:1200302 [GRCh38] Chr16:1250302 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3558C>A (p.Pro1186=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002633575] |
Chr16:1209226 [GRCh38] Chr16:1259226 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3970-15G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002585174] |
Chr16:1210568 [GRCh38] Chr16:1260568 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.588G>A (p.Ser196=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002603531] |
Chr16:1195968 [GRCh38] Chr16:1245968 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4038+4C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003052410] |
Chr16:1210655 [GRCh38] Chr16:1260655 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5154C>T (p.Arg1718=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003068203] |
Chr16:1215356 [GRCh38] Chr16:1265356 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4197T>G (p.Arg1399=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002814370] |
Chr16:1210945 [GRCh38] Chr16:1260945 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4778-12C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003071369] |
Chr16:1213768 [GRCh38] Chr16:1263768 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4242G>A (p.Pro1414=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003070229] |
Chr16:1211186 [GRCh38] Chr16:1261186 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5400G>T (p.Thr1800=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002607424] |
Chr16:1217995 [GRCh38] Chr16:1267995 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003070443] |
Chr16:1210889 [GRCh38] Chr16:1260889 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4351-5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003072815] |
Chr16:1211476 [GRCh38] Chr16:1261476 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5446-14G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002608513] |
Chr16:1218196 [GRCh38] Chr16:1268196 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.298C>T (p.Pro100Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002657512] |
Chr16:1154035 [GRCh38] Chr16:1204035 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5245-10T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002654219] |
Chr16:1216922 [GRCh38] Chr16:1266922 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2050C>T (p.Pro684Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002589704] |
Chr16:1204057 [GRCh38] Chr16:1254057 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7024A>G (p.Thr2342Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002680641] |
Chr16:1220956 [GRCh38] Chr16:1270956 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003052652] |
Chr16:1153742 [GRCh38] Chr16:1203742 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3105G>A (p.Ser1035=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003067980] |
Chr16:1207811 [GRCh38] Chr16:1257811 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2452-20G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003072081] |
Chr16:1205094 [GRCh38] Chr16:1255094 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6107A>G (p.Asp2036Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002583362] |
Chr16:1220039 [GRCh38] Chr16:1270039 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3011A>G (p.Tyr1004Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002606111] |
Chr16:1207378 [GRCh38] Chr16:1257378 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3990C>T (p.Val1330=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003071075] |
Chr16:1210603 [GRCh38] Chr16:1260603 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4983C>T (p.Val1661=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003073381] |
Chr16:1215025 [GRCh38] Chr16:1265025 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer) |
deletion |
Idiopathic generalized epilepsy [RCV003050156] |
Chr16:1210476..1210477 [GRCh38] Chr16:1260476..1260477 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4759+11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003051445] |
Chr16:1212149 [GRCh38] Chr16:1262149 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2877C>A (p.Ser959=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002584716] |
Chr16:1207088 [GRCh38] Chr16:1257088 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4316C>G (p.Ala1439Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003072332] |
Chr16:1211260 [GRCh38] Chr16:1261260 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6723G>C (p.Gly2241=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003071246] |
Chr16:1220655 [GRCh38] Chr16:1270655 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1686A>G (p.Pro562=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002608948] |
Chr16:1202136 [GRCh38] Chr16:1252136 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6009A>T (p.Thr2003=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002612916] |
Chr16:1219091 [GRCh38] Chr16:1269091 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6913C>A (p.Pro2305Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002613011] |
Chr16:1220845 [GRCh38] Chr16:1270845 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002613038] |
Chr16:1198728 [GRCh38] Chr16:1248728 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4875C>T (p.Phe1625=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002721684] |
Chr16:1213877 [GRCh38] Chr16:1263877 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003071863] |
Chr16:1153802 [GRCh38] Chr16:1203802 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1514G>A (p.Arg505His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003066726] |
Chr16:1201964 [GRCh38] Chr16:1251964 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.299+27_299+40del |
microsatellite |
Idiopathic generalized epilepsy [RCV002721991] |
Chr16:1154052..1154065 [GRCh38] Chr16:1204052..1204065 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-4A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003070069] |
Chr16:1201659 [GRCh38] Chr16:1251659 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5323+16G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002634186] |
Chr16:1217026 [GRCh38] Chr16:1267026 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4435C>T (p.Arg1479Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003070096] |
Chr16:1211565 [GRCh38] Chr16:1261565 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4932_4933delinsAT (p.Ser1644_Leu1645=) |
indel |
Idiopathic generalized epilepsy [RCV002587555] |
Chr16:1214974..1214975 [GRCh38] Chr16:1264974..1264975 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6090C>T (p.Ser2030=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002612063] |
Chr16:1220022 [GRCh38] Chr16:1270022 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+3A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002610275] |
Chr16:1196026 [GRCh38] Chr16:1246026 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.963C>T (p.Ala321=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002943237] |
Chr16:1200415 [GRCh38] Chr16:1250415 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4546G>A (p.Ala1516Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002612376] |
Chr16:1211785 [GRCh38] Chr16:1261785 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1454G>A (p.Arg485His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002612647] |
Chr16:1201904 [GRCh38] Chr16:1251904 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5372T>A (p.Phe1791Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002634588] |
Chr16:1217967 [GRCh38] Chr16:1267967 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2528A>G (p.Lys843Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003066307] |
Chr16:1205190 [GRCh38] Chr16:1255190 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4039-19_4039-18del |
deletion |
Idiopathic generalized epilepsy [RCV003069069] |
Chr16:1210767..1210768 [GRCh38] Chr16:1260767..1260768 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4344T>C (p.Gly1448=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV002612718] |
Chr16:1211288 [GRCh38] Chr16:1261288 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6679C>T (p.Pro2227Ser) |
single nucleotide variant |
not provided [RCV003229296] |
Chr16:1220611 [GRCh38] Chr16:1270611 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4586C>G (p.Pro1529Arg) |
single nucleotide variant |
not provided [RCV003229429] |
Chr16:1211965 [GRCh38] Chr16:1261965 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1375G>C (p.Glu459Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003220433] |
Chr16:1201825 [GRCh38] Chr16:1251825 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1406G>A (p.Arg469His) |
single nucleotide variant |
Inborn genetic diseases [RCV003212081] |
Chr16:1201856 [GRCh38] Chr16:1251856 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3311G>T (p.Arg1104Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003214720] |
Chr16:1208169 [GRCh38] Chr16:1258169 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1657G>C (p.Ala553Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003216838] |
Chr16:1202107 [GRCh38] Chr16:1252107 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6528G>T (p.Glu2176Asp) |
single nucleotide variant |
not provided [RCV003229188] |
Chr16:1220460 [GRCh38] Chr16:1270460 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2474T>G (p.Leu825Arg) |
single nucleotide variant |
not provided [RCV003225371] |
Chr16:1205136 [GRCh38] Chr16:1255136 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.546-2delinsCG |
indel |
CACNA1H-related condition [RCV003396957]|not provided [RCV003225508] |
Chr16:1195924 [GRCh38] Chr16:1245924 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4693C>A (p.Gln1565Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003194686] |
Chr16:1212072 [GRCh38] Chr16:1262072 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003779649]|Inborn genetic diseases [RCV003191035] |
Chr16:1218487 [GRCh38] Chr16:1268487 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.1179C>G (p.Phe393Leu) |
single nucleotide variant |
not provided [RCV003228437] |
Chr16:1200775 [GRCh38] Chr16:1250775 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3784A>G (p.Lys1262Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003211604] |
Chr16:1210074 [GRCh38] Chr16:1260074 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6463C>T (p.Arg2155Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003779692]|Inborn genetic diseases [RCV003199146] |
Chr16:1220395 [GRCh38] Chr16:1270395 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.422C>G (p.Ala141Gly) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003143931] |
Chr16:1195442 [GRCh38] Chr16:1245442 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2858A>C (p.Asp953Ala) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003143932] |
Chr16:1207069 [GRCh38] Chr16:1257069 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2051C>G (p.Pro684Arg) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003143933] |
Chr16:1204058 [GRCh38] Chr16:1254058 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5486_5498del (p.Leu1829fs) |
deletion |
Hyperaldosteronism, familial, type IV [RCV003143935] |
Chr16:1218245..1218257 [GRCh38] Chr16:1268245..1268257 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5158C>T (p.Leu1720Phe) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003143936] |
Chr16:1215360 [GRCh38] Chr16:1265360 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3104C>T (p.Ser1035Leu) |
single nucleotide variant |
Hyperaldosteronism, familial, type IV [RCV003143937] |
Chr16:1207810 [GRCh38] Chr16:1257810 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6673G>T (p.Ala2225Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003260816] |
Chr16:1220605 [GRCh38] Chr16:1270605 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 |
copy number loss |
not provided [RCV003222891] |
Chr16:811896..2130379 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003779781]|not provided [RCV003218955] |
Chr16:1208139 [GRCh38] Chr16:1258139 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3477G>C (p.Gln1159His) |
single nucleotide variant |
not provided [RCV003214136] |
Chr16:1209145 [GRCh38] Chr16:1259145 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003777363]|not provided [RCV003325648] |
Chr16:1201843 [GRCh38] Chr16:1251843 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.2111C>T (p.Thr704Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003343547] |
Chr16:1204118 [GRCh38] Chr16:1254118 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7045G>T (p.Ala2349Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003379668] |
Chr16:1220977 [GRCh38] Chr16:1270977 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2876C>T (p.Ser959Phe) |
single nucleotide variant |
not provided [RCV001539854] |
Chr16:1207087 [GRCh38] Chr16:1257087 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1301G>A (p.Arg434Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001348411] |
Chr16:1201751 [GRCh38] Chr16:1251751 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.644-87G>A |
single nucleotide variant |
not provided [RCV001776343] |
Chr16:1198528 [GRCh38] Chr16:1248528 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2451+105C>T |
single nucleotide variant |
not provided [RCV001776518] |
Chr16:1204563 [GRCh38] Chr16:1254563 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.770G>A (p.Arg257Gln) |
single nucleotide variant |
not specified [RCV003331789] |
Chr16:1198741 [GRCh38] Chr16:1248741 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1605C>T (p.Ser535=) |
single nucleotide variant |
not provided [RCV003395158] |
Chr16:1202055 [GRCh38] Chr16:1252055 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3363+201C>T |
single nucleotide variant |
not provided [RCV003395160] |
Chr16:1208422 [GRCh38] Chr16:1258422 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3363+293G>A |
single nucleotide variant |
not provided [RCV003395161] |
Chr16:1208514 [GRCh38] Chr16:1258514 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1043G>A (p.Arg348His) |
single nucleotide variant |
Inborn genetic diseases [RCV003384852] |
Chr16:1200495 [GRCh38] Chr16:1250495 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1598A>G (p.His533Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003352033] |
Chr16:1202048 [GRCh38] Chr16:1252048 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.970C>G (p.Gln324Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003375102] |
Chr16:1200422 [GRCh38] Chr16:1250422 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.401A>G (p.Asn134Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003366652] |
Chr16:1195073 [GRCh38] Chr16:1245073 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4159G>A (p.Gly1387Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003364975] |
Chr16:1210907 [GRCh38] Chr16:1260907 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3436A>G (p.Ser1146Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003363981] |
Chr16:1209104 [GRCh38] Chr16:1259104 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4973T>C (p.Ile1658Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792163] |
Chr16:1215015 [GRCh38] Chr16:1265015 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1620C>A (p.Gly540=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782187] |
Chr16:1202070 [GRCh38] Chr16:1252070 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.642T>C (p.Pro214=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791425] |
Chr16:1196022 [GRCh38] Chr16:1246022 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4566+14G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791475] |
Chr16:1211819 [GRCh38] Chr16:1261819 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.59C>G (p.Pro20Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791633] |
Chr16:1153796 [GRCh38] Chr16:1203796 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4883G>T (p.Cys1628Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792004] |
Chr16:1213885 [GRCh38] Chr16:1263885 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5343C>T (p.Pro1781=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792010] |
Chr16:1217938 [GRCh38] Chr16:1267938 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+11A>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790955] |
Chr16:1205276 [GRCh38] Chr16:1255276 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 |
copy number loss |
not provided [RCV003483253] |
Chr16:85881..1657611 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.4605C>T (p.Phe1535=) |
single nucleotide variant |
not provided [RCV003390600] |
Chr16:1211984 [GRCh38] Chr16:1261984 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.280C>G (p.Leu94Val) |
single nucleotide variant |
not specified [RCV003405029] |
Chr16:1154017 [GRCh38] Chr16:1204017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:898328-1349091)x3 |
copy number gain |
not provided [RCV003485079] |
Chr16:898328..1349091 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 |
copy number gain |
not provided [RCV003485080] |
Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_021098.3(CACNA1H):c.1016A>G (p.Asn339Ser) |
single nucleotide variant |
not provided [RCV003442731] |
Chr16:1200468 [GRCh38] Chr16:1250468 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2451+177G>A |
single nucleotide variant |
not provided [RCV003441680] |
Chr16:1204635 [GRCh38] Chr16:1254635 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1462A>G (p.Lys488Glu) |
single nucleotide variant |
not provided [RCV003442521] |
Chr16:1201912 [GRCh38] Chr16:1251912 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6122G>C (p.Gly2041Ala) |
single nucleotide variant |
Epilepsy, childhood absence, susceptibility to, 6 [RCV003448570] |
Chr16:1220054 [GRCh38] Chr16:1270054 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4566+18G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791119] |
Chr16:1211823 [GRCh38] Chr16:1261823 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2569T>C (p.Tyr857His) |
single nucleotide variant |
CACNA1H-related condition [RCV003394483] |
Chr16:1205231 [GRCh38] Chr16:1255231 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3936C>T (p.Ala1312=) |
single nucleotide variant |
not provided [RCV003395162] |
Chr16:1210460 [GRCh38] Chr16:1260460 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3363+129A>T |
single nucleotide variant |
not provided [RCV003395159] |
Chr16:1208350 [GRCh38] Chr16:1258350 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.31G>C (p.Val11Leu) |
single nucleotide variant |
not provided [RCV003395157] |
Chr16:1153768 [GRCh38] Chr16:1203768 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3203G>A (p.Gly1068Glu) |
single nucleotide variant |
CACNA1H-related condition [RCV003393009] |
Chr16:1208061 [GRCh38] Chr16:1258061 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
CACNA1H-related condition [RCV003410496]|Idiopathic generalized epilepsy [RCV003778307] |
Chr16:1200377 [GRCh38] Chr16:1250377 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1835A>G (p.Asn612Ser) |
single nucleotide variant |
CACNA1H-related condition [RCV003402418] |
Chr16:1202285 [GRCh38] Chr16:1252285 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu) |
single nucleotide variant |
CACNA1H-related condition [RCV003427874]|Idiopathic generalized epilepsy [RCV003778284] |
Chr16:1218610 [GRCh38] Chr16:1268610 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5264T>C (p.Leu1755Pro) |
single nucleotide variant |
not provided [RCV003442546] |
Chr16:1216951 [GRCh38] Chr16:1266951 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2708G>T (p.Arg903Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796937] |
Chr16:1206208 [GRCh38] Chr16:1256208 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.508A>G (p.Thr170Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795012] |
Chr16:1195528 [GRCh38] Chr16:1245528 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5173+12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003807688] |
Chr16:1215387 [GRCh38] Chr16:1265387 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5722G>A (p.Ala1908Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797709] |
Chr16:1218486 [GRCh38] Chr16:1268486 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2161G>C (p.Asp721His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786761] |
Chr16:1204168 [GRCh38] Chr16:1254168 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2666T>C (p.Leu889Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794774] |
Chr16:1206166 [GRCh38] Chr16:1256166 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6630_6639dup (p.Thr2214fs) |
duplication |
CACNA1H-related condition [RCV003893412]|Idiopathic generalized epilepsy [RCV003792348] |
Chr16:1220561..1220562 [GRCh38] Chr16:1270561..1270562 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4447C>T (p.Arg1483Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785823] |
Chr16:1211577 [GRCh38] Chr16:1261577 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla) |
duplication |
Idiopathic generalized epilepsy [RCV003807268] |
Chr16:1209213..1209214 [GRCh38] Chr16:1259213..1259214 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1994G>C (p.Gly665Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797060] |
Chr16:1202444 [GRCh38] Chr16:1252444 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2770C>T (p.Leu924Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795146] |
Chr16:1206270 [GRCh38] Chr16:1256270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.299+7T>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797332] |
Chr16:1154043 [GRCh38] Chr16:1204043 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3970-4G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788442] |
Chr16:1210579 [GRCh38] Chr16:1260579 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3155-17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780568] |
Chr16:1207996 [GRCh38] Chr16:1257996 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5724C>T (p.Ala1908=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793926] |
Chr16:1218488 [GRCh38] Chr16:1268488 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4286C>A (p.Pro1429His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003805471] |
Chr16:1211230 [GRCh38] Chr16:1261230 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.804-12G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797482] |
Chr16:1200244 [GRCh38] Chr16:1250244 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4824C>G (p.Arg1608=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790796] |
Chr16:1213826 [GRCh38] Chr16:1263826 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5212C>T (p.Leu1738=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794996] |
Chr16:1215561 [GRCh38] Chr16:1265561 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785989] |
Chr16:1207083 [GRCh38] Chr16:1257083 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4039-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782226] |
Chr16:1210771 [GRCh38] Chr16:1260771 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.510G>A (p.Thr170=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786198] |
Chr16:1195530 [GRCh38] Chr16:1245530 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4819C>A (p.Arg1607Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789983] |
Chr16:1213821 [GRCh38] Chr16:1263821 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1566_1574del (p.His526_His528del) |
deletion |
Idiopathic generalized epilepsy [RCV003780550] |
Chr16:1202008..1202016 [GRCh38] Chr16:1252008..1252016 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3525C>A (p.Thr1175=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782303] |
Chr16:1209193 [GRCh38] Chr16:1259193 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2886G>C (p.Trp962Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783682] |
Chr16:1207097 [GRCh38] Chr16:1257097 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2932G>A (p.Val978Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795386] |
Chr16:1207299 [GRCh38] Chr16:1257299 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003807590] |
Chr16:1220230 [GRCh38] Chr16:1270230 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.300-12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782347] |
Chr16:1194960 [GRCh38] Chr16:1244960 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3877C>G (p.His1293Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783846] |
Chr16:1210401 [GRCh38] Chr16:1260401 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1149C>T (p.Ile383=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783849] |
Chr16:1200745 [GRCh38] Chr16:1250745 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2027T>G (p.Leu676Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003807960] |
Chr16:1204034 [GRCh38] Chr16:1254034 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1997A>C (p.Glu666Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783897] |
Chr16:1202447 [GRCh38] Chr16:1252447 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4842C>T (p.Cys1614=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796666] |
Chr16:1213844 [GRCh38] Chr16:1263844 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4263G>A (p.Glu1421=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788959] |
Chr16:1211207 [GRCh38] Chr16:1261207 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6912A>C (p.Glu2304Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796522] |
Chr16:1220844 [GRCh38] Chr16:1270844 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.643+9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792952] |
Chr16:1196032 [GRCh38] Chr16:1246032 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4760-10G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804582] |
Chr16:1212501 [GRCh38] Chr16:1262501 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6282G>C (p.Ser2094=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786539] |
Chr16:1220214 [GRCh38] Chr16:1270214 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4777+6G>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792986] |
Chr16:1212534 [GRCh38] Chr16:1262534 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.384C>T (p.Cys128=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796476] |
Chr16:1195056 [GRCh38] Chr16:1245056 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.283C>A (p.Arg95=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781510] |
Chr16:1154020 [GRCh38] Chr16:1204020 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5174-9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789055] |
Chr16:1215514 [GRCh38] Chr16:1265514 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+7G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794222] |
Chr16:1213938 [GRCh38] Chr16:1263938 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4851C>A (p.His1617Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783967] |
Chr16:1213853 [GRCh38] Chr16:1263853 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787684] |
Chr16:1153916 [GRCh38] Chr16:1203916 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.395G>A (p.Arg132His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795484] |
Chr16:1195067 [GRCh38] Chr16:1245067 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.75G>A (p.Leu25=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003807625] |
Chr16:1153812 [GRCh38] Chr16:1203812 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6497G>C (p.Gly2166Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797663] |
Chr16:1220429 [GRCh38] Chr16:1270429 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6435del (p.Asp2145fs) |
deletion |
Idiopathic generalized epilepsy [RCV003794412] |
Chr16:1220367 [GRCh38] Chr16:1270367 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4743A>G (p.Leu1581=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784365] |
Chr16:1212122 [GRCh38] Chr16:1262122 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6821G>T (p.Gly2274Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797672] |
Chr16:1220753 [GRCh38] Chr16:1270753 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4305C>T (p.Leu1435=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781230] |
Chr16:1211249 [GRCh38] Chr16:1261249 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3154+10G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796812] |
Chr16:1207870 [GRCh38] Chr16:1257870 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4560C>T (p.Asp1520=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796828] |
Chr16:1211799 [GRCh38] Chr16:1261799 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1120-3C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786523] |
Chr16:1200713 [GRCh38] Chr16:1250713 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.249C>G (p.Leu83=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783090] |
Chr16:1153986 [GRCh38] Chr16:1203986 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2311G>A (p.Glu771Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793394] |
Chr16:1204318 [GRCh38] Chr16:1254318 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806972] |
Chr16:1212091 [GRCh38] Chr16:1262091 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3097A>G (p.Lys1033Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796120] |
Chr16:1207803 [GRCh38] Chr16:1257803 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.644-14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786683] |
Chr16:1198601 [GRCh38] Chr16:1248601 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6503C>T (p.Ala2168Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788120] |
Chr16:1220435 [GRCh38] Chr16:1270435 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1213-19C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789540] |
Chr16:1201644 [GRCh38] Chr16:1251644 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3612G>A (p.Leu1204=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780255] |
Chr16:1209280 [GRCh38] Chr16:1259280 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6143C>G (p.Pro2048Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789627] |
Chr16:1220075 [GRCh38] Chr16:1270075 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3720C>T (p.Ala1240=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783144] |
Chr16:1209388 [GRCh38] Chr16:1259388 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3018C>T (p.Leu1006=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793493] |
Chr16:1207385 [GRCh38] Chr16:1257385 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.534C>T (p.Ile178=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794927] |
Chr16:1195554 [GRCh38] Chr16:1245554 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003807495] |
Chr16:1200438 [GRCh38] Chr16:1250438 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797308] |
Chr16:1153930 [GRCh38] Chr16:1203930 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.803+17C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794867] |
Chr16:1198791 [GRCh38] Chr16:1248791 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5244+15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785975] |
Chr16:1215608 [GRCh38] Chr16:1265608 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5295G>T (p.Ala1765=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806494] |
Chr16:1216982 [GRCh38] Chr16:1266982 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3220C>T (p.Pro1074Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786227] |
Chr16:1208078 [GRCh38] Chr16:1258078 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3825C>T (p.Tyr1275=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786323] |
Chr16:1210115 [GRCh38] Chr16:1260115 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6048+12C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788873] |
Chr16:1219142 [GRCh38] Chr16:1269142 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1745T>C (p.Ile582Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794946] |
Chr16:1202195 [GRCh38] Chr16:1252195 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2026_2027del (p.Leu676fs) |
deletion |
Idiopathic generalized epilepsy [RCV003785347] |
Chr16:1204032..1204033 [GRCh38] Chr16:1254032..1254033 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3025C>G (p.Leu1009Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785882] |
Chr16:1207392 [GRCh38] Chr16:1257392 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806945] |
Chr16:1218405 [GRCh38] Chr16:1268405 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3633T>C (p.Pro1211=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788163] |
Chr16:1209301 [GRCh38] Chr16:1259301 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6039C>T (p.Leu2013=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785971] |
Chr16:1219121 [GRCh38] Chr16:1269121 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1704C>T (p.Asp568=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786004] |
Chr16:1202154 [GRCh38] Chr16:1252154 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4038+15G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806539] |
Chr16:1210666 [GRCh38] Chr16:1260666 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs) |
deletion |
Idiopathic generalized epilepsy [RCV003805241] |
Chr16:1202077..1202092 [GRCh38] Chr16:1252077..1252092 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.546-2A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786760] |
Chr16:1195924 [GRCh38] Chr16:1245924 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6994C>T (p.Pro2332Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780325] |
Chr16:1220926 [GRCh38] Chr16:1270926 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6776A>C (p.Glu2259Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780331] |
Chr16:1220708 [GRCh38] Chr16:1270708 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.956G>C (p.Trp319Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792984] |
Chr16:1200408 [GRCh38] Chr16:1250408 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3529G>A (p.Asp1177Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784067] |
Chr16:1209197 [GRCh38] Chr16:1259197 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3327C>T (p.Ser1109=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796378] |
Chr16:1208185 [GRCh38] Chr16:1258185 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4012A>G (p.Ile1338Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793807] |
Chr16:1210625 [GRCh38] Chr16:1260625 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2463_2466del (p.Thr822fs) |
deletion |
Idiopathic generalized epilepsy [RCV003794583] |
Chr16:1205123..1205126 [GRCh38] Chr16:1255123..1255126 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784820] |
Chr16:1208120 [GRCh38] Chr16:1258120 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2336G>C (p.Trp779Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795172] |
Chr16:1204343 [GRCh38] Chr16:1254343 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2859C>G (p.Asp953Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791266] |
Chr16:1207070 [GRCh38] Chr16:1257070 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.545+12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784796] |
Chr16:1195577 [GRCh38] Chr16:1245577 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786095] |
Chr16:1220329 [GRCh38] Chr16:1270329 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4340T>C (p.Leu1447Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003805487] |
Chr16:1211284 [GRCh38] Chr16:1261284 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3333G>A (p.Gly1111=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791337] |
Chr16:1208191 [GRCh38] Chr16:1258191 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6445C>G (p.Arg2149Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793115] |
Chr16:1220377 [GRCh38] Chr16:1270377 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4224-17C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804705] |
Chr16:1211151 [GRCh38] Chr16:1261151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter) |
insertion |
Idiopathic generalized epilepsy [RCV003795348] |
Chr16:1220127..1220128 [GRCh38] Chr16:1270127..1270128 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6068C>A (p.Ser2023Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786893] |
Chr16:1220000 [GRCh38] Chr16:1270000 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1817C>G (p.Thr606Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789093] |
Chr16:1202267 [GRCh38] Chr16:1252267 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4393A>G (p.Arg1465Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794808] |
Chr16:1211523 [GRCh38] Chr16:1261523 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791479]|not specified [RCV003988150] |
Chr16:1209134 [GRCh38] Chr16:1259134 [GRCh37] Chr16:16p13.3 |
likely benign|uncertain significance |
NM_021098.3(CACNA1H):c.5560G>T (p.Val1854Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792455] |
Chr16:1218324 [GRCh38] Chr16:1268324 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6780C>G (p.His2260Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793959] |
Chr16:1220712 [GRCh38] Chr16:1270712 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1567CAC[5] (p.His528del) |
microsatellite |
Idiopathic generalized epilepsy [RCV003795835] |
Chr16:1202017..1202019 [GRCh38] Chr16:1252017..1252019 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3733G>A (p.Asp1245Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780580] |
Chr16:1209401 [GRCh38] Chr16:1259401 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3950A>G (p.Asp1317Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791567] |
Chr16:1210474 [GRCh38] Chr16:1260474 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6958_6959del (p.Lys2320fs) |
deletion |
Idiopathic generalized epilepsy [RCV003791573] |
Chr16:1220890..1220891 [GRCh38] Chr16:1270890..1270891 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1188C>T (p.Phe396=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785570] |
Chr16:1200784 [GRCh38] Chr16:1250784 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5198C>G (p.Thr1733Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787776] |
Chr16:1215547 [GRCh38] Chr16:1265547 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6049-12A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788534] |
Chr16:1219969 [GRCh38] Chr16:1269969 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1563C>T (p.His521=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791607] |
Chr16:1202013 [GRCh38] Chr16:1252013 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.613C>T (p.Arg205Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791690] |
Chr16:1195993 [GRCh38] Chr16:1245993 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs) |
duplication |
Idiopathic generalized epilepsy [RCV003804285] |
Chr16:1220204..1220205 [GRCh38] Chr16:1270204..1270205 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804297] |
Chr16:1219114 [GRCh38] Chr16:1269114 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6539G>A (p.Gly2180Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784423] |
Chr16:1220471 [GRCh38] Chr16:1270471 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3615G>A (p.Arg1205=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003805671] |
Chr16:1209283 [GRCh38] Chr16:1259283 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5502C>T (p.Ala1834=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806785] |
Chr16:1218266 [GRCh38] Chr16:1268266 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5888G>C (p.Gly1963Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782401] |
Chr16:1218970 [GRCh38] Chr16:1268970 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2289A>C (p.Ala763=) |
single nucleotide variant |
CACNA1H-related condition [RCV003966673]|Idiopathic generalized epilepsy [RCV003792698] |
Chr16:1204296 [GRCh38] Chr16:1254296 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.1804C>T (p.Leu602Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793444] |
Chr16:1202254 [GRCh38] Chr16:1252254 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.562_564del (p.Leu188del) |
deletion |
Idiopathic generalized epilepsy [RCV003796194] |
Chr16:1195941..1195943 [GRCh38] Chr16:1245941..1245943 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6890C>T (p.Ser2297Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796468] |
Chr16:1220822 [GRCh38] Chr16:1270822 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1951T>C (p.Leu651=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806815] |
Chr16:1202401 [GRCh38] Chr16:1252401 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1980C>G (p.Ile660Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794855] |
Chr16:1202430 [GRCh38] Chr16:1252430 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.471C>T (p.Ala157=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786347] |
Chr16:1195491 [GRCh38] Chr16:1245491 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5888-17A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786354] |
Chr16:1218953 [GRCh38] Chr16:1268953 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1182C>T (p.Tyr394=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788819] |
Chr16:1200778 [GRCh38] Chr16:1250778 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4458C>T (p.Asn1486=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780815] |
Chr16:1211588 [GRCh38] Chr16:1261588 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2254C>G (p.Pro752Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781412] |
Chr16:1204261 [GRCh38] Chr16:1254261 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5124C>T (p.Pro1708=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785174] |
Chr16:1215326 [GRCh38] Chr16:1265326 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.285G>C (p.Arg95=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785195] |
Chr16:1154022 [GRCh38] Chr16:1204022 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3398G>A (p.Gly1133Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787781] |
Chr16:1209066 [GRCh38] Chr16:1259066 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5674C>T (p.Arg1892Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789384] |
Chr16:1218438 [GRCh38] Chr16:1268438 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5445+11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780545] |
Chr16:1218051 [GRCh38] Chr16:1268051 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1330G>A (p.Asp444Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781244] |
Chr16:1201780 [GRCh38] Chr16:1251780 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1344C>T (p.Ala448=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781253] |
Chr16:1201794 [GRCh38] Chr16:1251794 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.861C>T (p.Asn287=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795552] |
Chr16:1200313 [GRCh38] Chr16:1250313 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2802G>T (p.Met934Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786437] |
Chr16:1207013 [GRCh38] Chr16:1257013 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6459G>A (p.Gln2153=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789416] |
Chr16:1220391 [GRCh38] Chr16:1270391 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1426T>C (p.Leu476=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784299] |
Chr16:1201876 [GRCh38] Chr16:1251876 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1343C>A (p.Ala448Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795577] |
Chr16:1201793 [GRCh38] Chr16:1251793 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.403A>G (p.Ile135Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790833] |
Chr16:1195075 [GRCh38] Chr16:1245075 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4072G>C (p.Ala1358Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780133] |
Chr16:1210820 [GRCh38] Chr16:1260820 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2603+13C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780724] |
Chr16:1205278 [GRCh38] Chr16:1255278 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1669C>A (p.Pro557Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785267] |
Chr16:1202119 [GRCh38] Chr16:1252119 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4350+19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790927] |
Chr16:1211313 [GRCh38] Chr16:1261313 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.54G>A (p.Pro18=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794672] |
Chr16:1153791 [GRCh38] Chr16:1203791 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4559A>G (p.Asp1520Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784828] |
Chr16:1211798 [GRCh38] Chr16:1261798 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1143G>A (p.Val381=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788042] |
Chr16:1200739 [GRCh38] Chr16:1250739 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2857G>A (p.Asp953Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788772] |
Chr16:1207068 [GRCh38] Chr16:1257068 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6290C>A (p.Ala2097Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788773] |
Chr16:1220222 [GRCh38] Chr16:1270222 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3903C>G (p.Leu1301=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788820] |
Chr16:1210427 [GRCh38] Chr16:1260427 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4246C>T (p.Leu1416Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784869] |
Chr16:1211190 [GRCh38] Chr16:1261190 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4726A>C (p.Lys1576Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003805411] |
Chr16:1212105 [GRCh38] Chr16:1262105 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4884T>C (p.Cys1628=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785768] |
Chr16:1213886 [GRCh38] Chr16:1263886 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2410C>T (p.Leu804Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786148] |
Chr16:1204417 [GRCh38] Chr16:1254417 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2834C>T (p.Thr945Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794730] |
Chr16:1207045 [GRCh38] Chr16:1257045 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5174-20C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794755] |
Chr16:1215503 [GRCh38] Chr16:1265503 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3528C>T (p.Asp1176=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785788] |
Chr16:1209196 [GRCh38] Chr16:1259196 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.643+14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786739] |
Chr16:1196037 [GRCh38] Chr16:1246037 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5514C>G (p.Val1838=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783907] |
Chr16:1218278 [GRCh38] Chr16:1268278 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3542A>G (p.Asp1181Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794722] |
Chr16:1209210 [GRCh38] Chr16:1259210 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.967A>G (p.Thr323Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795710] |
Chr16:1200419 [GRCh38] Chr16:1250419 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4866C>T (p.Phe1622=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786545] |
Chr16:1213868 [GRCh38] Chr16:1263868 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.803+18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783935] |
Chr16:1198792 [GRCh38] Chr16:1248792 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4436G>A (p.Arg1479His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783989] |
Chr16:1211566 [GRCh38] Chr16:1261566 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4585C>T (p.Pro1529Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784963] |
Chr16:1211964 [GRCh38] Chr16:1261964 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.618C>T (p.Pro206=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796145] |
Chr16:1195998 [GRCh38] Chr16:1245998 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3125T>C (p.Phe1042Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796150] |
Chr16:1207831 [GRCh38] Chr16:1257831 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6117G>T (p.Glu2039Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796885] |
Chr16:1220049 [GRCh38] Chr16:1270049 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003806983] |
Chr16:1220755 [GRCh38] Chr16:1270755 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5934C>G (p.Ser1978=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797118] |
Chr16:1219016 [GRCh38] Chr16:1269016 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4938C>T (p.Asp1646=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781462] |
Chr16:1214980 [GRCh38] Chr16:1264980 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5530G>A (p.Val1844Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781568] |
Chr16:1218294 [GRCh38] Chr16:1268294 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1113C>T (p.Ile371=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787439] |
Chr16:1200565 [GRCh38] Chr16:1250565 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2332C>T (p.Leu778Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785021] |
Chr16:1204339 [GRCh38] Chr16:1254339 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003805936] |
Chr16:1208053 [GRCh38] Chr16:1258053 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1809_1810delinsGG (p.Leu604Val) |
indel |
Idiopathic generalized epilepsy [RCV003785853] |
Chr16:1202259..1202260 [GRCh38] Chr16:1252259..1252260 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3845+14G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785854] |
Chr16:1210149 [GRCh38] Chr16:1260149 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1083C>T (p.Phe361=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786256] |
Chr16:1200535 [GRCh38] Chr16:1250535 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1599T>C (p.His533=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788283] |
Chr16:1202049 [GRCh38] Chr16:1252049 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6634G>A (p.Gly2212Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796181] |
Chr16:1220566 [GRCh38] Chr16:1270566 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3656G>T (p.Gly1219Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796586] |
Chr16:1209324 [GRCh38] Chr16:1259324 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5653G>A (p.Ala1885Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790352] |
Chr16:1218417 [GRCh38] Chr16:1268417 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.478C>G (p.Leu160Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003805927] |
Chr16:1195498 [GRCh38] Chr16:1245498 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4477-10T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792205] |
Chr16:1211706 [GRCh38] Chr16:1261706 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5871G>A (p.Gly1957=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780481] |
Chr16:1218635 [GRCh38] Chr16:1268635 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.744C>T (p.Gly248=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794448] |
Chr16:1198715 [GRCh38] Chr16:1248715 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5935C>G (p.Leu1979Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784580] |
Chr16:1219017 [GRCh38] Chr16:1269017 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5236C>G (p.Leu1746Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794889] |
Chr16:1215585 [GRCh38] Chr16:1265585 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3393C>T (p.Pro1131=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780490] |
Chr16:1209061 [GRCh38] Chr16:1259061 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4173C>T (p.Ile1391=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785109] |
Chr16:1210921 [GRCh38] Chr16:1260921 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.7015C>T (p.Pro2339Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782106] |
Chr16:1220947 [GRCh38] Chr16:1270947 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs) |
deletion |
Idiopathic generalized epilepsy [RCV003783510] |
Chr16:1220827..1220834 [GRCh38] Chr16:1270827..1270834 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1943C>A (p.Pro648Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789911] |
Chr16:1202393 [GRCh38] Chr16:1252393 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3237C>T (p.Cys1079=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794966] |
Chr16:1208095 [GRCh38] Chr16:1258095 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.410A>G (p.Glu137Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003795418] |
Chr16:1195082 [GRCh38] Chr16:1245082 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2592C>T (p.Ile864=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785135] |
Chr16:1205254 [GRCh38] Chr16:1255254 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2466T>G (p.Thr822=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796279] |
Chr16:1205128 [GRCh38] Chr16:1255128 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2595G>A (p.Val865=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796708] |
Chr16:1205257 [GRCh38] Chr16:1255257 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2003-16G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003797208] |
Chr16:1203994 [GRCh38] Chr16:1253994 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs) |
duplication |
Idiopathic generalized epilepsy [RCV003787725] |
Chr16:1220652..1220653 [GRCh38] Chr16:1270652..1270653 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.7039G>A (p.Gly2347Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003784257] |
Chr16:1220971 [GRCh38] Chr16:1270971 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1008C>T (p.Ala336=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003785146] |
Chr16:1200460 [GRCh38] Chr16:1250460 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.969G>C (p.Thr323=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003796980] |
Chr16:1200421 [GRCh38] Chr16:1250421 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4965C>A (p.Val1655=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786982] |
Chr16:1215007 [GRCh38] Chr16:1265007 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.212C>A (p.Pro71Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003786928] |
Chr16:1153949 [GRCh38] Chr16:1203949 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4279C>T (p.Leu1427Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790410] |
Chr16:1211223 [GRCh38] Chr16:1261223 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4930-5C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783311] |
Chr16:1214967 [GRCh38] Chr16:1264967 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.472T>C (p.Leu158=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783321] |
Chr16:1195492 [GRCh38] Chr16:1245492 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804443] |
Chr16:1220699 [GRCh38] Chr16:1270699 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.546-3dup |
duplication |
Idiopathic generalized epilepsy [RCV003786759] |
Chr16:1195918..1195919 [GRCh38] Chr16:1245918..1245919 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4759+22_4759+33del |
microsatellite |
Idiopathic generalized epilepsy [RCV003790009] |
Chr16:1212151..1212162 [GRCh38] Chr16:1262151..1262162 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.344T>C (p.Val115Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794272] |
Chr16:1195016 [GRCh38] Chr16:1245016 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1767C>T (p.Ala589=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792091] |
Chr16:1202217 [GRCh38] Chr16:1252217 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.54G>T (p.Pro18=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792108] |
Chr16:1153791 [GRCh38] Chr16:1203791 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1885A>G (p.Ser629Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792111] |
Chr16:1202335 [GRCh38] Chr16:1252335 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.690C>G (p.Leu230=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787087] |
Chr16:1198661 [GRCh38] Chr16:1248661 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3359C>T (p.Pro1120Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790466] |
Chr16:1208217 [GRCh38] Chr16:1258217 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4224-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783985] |
Chr16:1211152 [GRCh38] Chr16:1261152 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.577G>C (p.Val193Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794289] |
Chr16:1195957 [GRCh38] Chr16:1245957 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3063+11A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787333] |
Chr16:1207441 [GRCh38] Chr16:1257441 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789862] |
Chr16:1200434 [GRCh38] Chr16:1250434 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4038+13C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782922] |
Chr16:1210664 [GRCh38] Chr16:1260664 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4350+1G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792200] |
Chr16:1211295 [GRCh38] Chr16:1261295 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5034G>A (p.Lys1678=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788799] |
Chr16:1215076 [GRCh38] Chr16:1265076 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6405C>G (p.Leu2135=) |
single nucleotide variant |
CACNA1H-related condition [RCV003981126]|Idiopathic generalized epilepsy [RCV003781153] |
Chr16:1220337 [GRCh38] Chr16:1270337 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6297G>C (p.Glu2099Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781140] |
Chr16:1220229 [GRCh38] Chr16:1270229 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2397C>T (p.Ile799=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792785] |
Chr16:1204404 [GRCh38] Chr16:1254404 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6760G>T (p.Ala2254Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790146] |
Chr16:1220692 [GRCh38] Chr16:1270692 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.6876C>T (p.Ser2292=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003794309] |
Chr16:1220808 [GRCh38] Chr16:1270808 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2790-18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792252] |
Chr16:1206983 [GRCh38] Chr16:1256983 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2946C>G (p.Asn982Lys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787504] |
Chr16:1207313 [GRCh38] Chr16:1257313 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.545+20G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789004] |
Chr16:1195585 [GRCh38] Chr16:1245585 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4224-19A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782122] |
Chr16:1211149 [GRCh38] Chr16:1261149 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3930C>T (p.Thr1310=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792871] |
Chr16:1210454 [GRCh38] Chr16:1260454 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5400G>A (p.Thr1800=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780660] |
Chr16:1217995 [GRCh38] Chr16:1267995 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4566+17C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787550] |
Chr16:1211822 [GRCh38] Chr16:1261822 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5410G>A (p.Val1804Met) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781247] |
Chr16:1218005 [GRCh38] Chr16:1268005 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6358C>T (p.Pro2120Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792316] |
Chr16:1220290 [GRCh38] Chr16:1270290 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3550G>A (p.Ala1184Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780031] |
Chr16:1209218 [GRCh38] Chr16:1259218 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6493C>G (p.Pro2165Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780699] |
Chr16:1220425 [GRCh38] Chr16:1270425 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5888-3del |
deletion |
Idiopathic generalized epilepsy [RCV003780870] |
Chr16:1218964 [GRCh38] Chr16:1268964 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804328] |
Chr16:1218270 [GRCh38] Chr16:1268270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.965A>T (p.Tyr322Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791625] |
Chr16:1200417 [GRCh38] Chr16:1250417 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4224-8C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791645] |
Chr16:1211160 [GRCh38] Chr16:1261160 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6067T>G (p.Ser2023Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793892] |
Chr16:1219999 [GRCh38] Chr16:1269999 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6049-8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003781311] |
Chr16:1219973 [GRCh38] Chr16:1269973 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2070G>A (p.Ala690=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790688] |
Chr16:1204077 [GRCh38] Chr16:1254077 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.483C>T (p.Phe161=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003782255] |
Chr16:1195503 [GRCh38] Chr16:1245503 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.546-15C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804359] |
Chr16:1195911 [GRCh38] Chr16:1245911 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4614C>T (p.Phe1538=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003804365] |
Chr16:1211993 [GRCh38] Chr16:1261993 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2028G>T (p.Leu676=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791760] |
Chr16:1204035 [GRCh38] Chr16:1254035 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.987G>A (p.Gly329=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003788048] |
Chr16:1200439 [GRCh38] Chr16:1250439 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2350G>A (p.Gly784Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003783681] |
Chr16:1204357 [GRCh38] Chr16:1254357 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3409G>A (p.Ala1137Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003787824] |
Chr16:1209077 [GRCh38] Chr16:1259077 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5476A>G (p.Lys1826Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003789641] |
Chr16:1218240 [GRCh38] Chr16:1268240 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4425C>T (p.Ala1475=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793985] |
Chr16:1211555 [GRCh38] Chr16:1261555 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3192G>T (p.Gly1064=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003791855] |
Chr16:1208050 [GRCh38] Chr16:1258050 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2893G>A (p.Val965Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780906] |
Chr16:1207104 [GRCh38] Chr16:1257104 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.987G>T (p.Gly329=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003792639] |
Chr16:1200439 [GRCh38] Chr16:1250439 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.583_584delinsGC (p.Leu195Ala) |
indel |
Idiopathic generalized epilepsy [RCV003793101] |
Chr16:1195963..1195964 [GRCh38] Chr16:1245963..1245964 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1737C>G (p.Asp579Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793114] |
Chr16:1202187 [GRCh38] Chr16:1252187 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2022C>T (p.Gly674=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793520] |
Chr16:1204029 [GRCh38] Chr16:1254029 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.644-19C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003793536] |
Chr16:1198596 [GRCh38] Chr16:1248596 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4566+8C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003790784] |
Chr16:1211813 [GRCh38] Chr16:1261813 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.306C>T (p.Phe102=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003780489]|not provided [RCV003885375] |
Chr16:1194978 [GRCh38] Chr16:1244978 [GRCh37] Chr16:16p13.3 |
benign|likely benign |
NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809989] |
Chr16:1210449 [GRCh38] Chr16:1260449 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.804-10C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798770] |
Chr16:1200246 [GRCh38] Chr16:1250246 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3369C>T (p.Ser1123=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799912] |
Chr16:1209037 [GRCh38] Chr16:1259037 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1176A>G (p.Ser392=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809142] |
Chr16:1200772 [GRCh38] Chr16:1250772 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003810129] |
Chr16:1210044 [GRCh38] Chr16:1260044 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809250] |
Chr16:1211258 [GRCh38] Chr16:1261258 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1527G>A (p.Arg509=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799999] |
Chr16:1201977 [GRCh38] Chr16:1251977 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2603+5G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003800003] |
Chr16:1205270 [GRCh38] Chr16:1255270 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4126C>G (p.Leu1376Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003801161] |
Chr16:1210874 [GRCh38] Chr16:1260874 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.599C>T (p.Thr200Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799150] |
Chr16:1195979 [GRCh38] Chr16:1245979 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4926C>T (p.Pro1642=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809371] |
Chr16:1213928 [GRCh38] Chr16:1263928 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4567-14C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799220] |
Chr16:1211932 [GRCh38] Chr16:1261932 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4567-11C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003800267] |
Chr16:1211935 [GRCh38] Chr16:1261935 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5244+13C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809481] |
Chr16:1215606 [GRCh38] Chr16:1265606 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6924A>G (p.Ser2308=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809487] |
Chr16:1220856 [GRCh38] Chr16:1270856 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003810467] |
Chr16:1213837 [GRCh38] Chr16:1263837 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.299+17G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809563] |
Chr16:1154053 [GRCh38] Chr16:1204053 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812777] |
Chr16:1195005 [GRCh38] Chr16:1245005 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003808499] |
Chr16:1204082 [GRCh38] Chr16:1254082 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4824C>T (p.Arg1608=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799435] |
Chr16:1213826 [GRCh38] Chr16:1263826 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3363+3A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812892] |
Chr16:1208224 [GRCh38] Chr16:1258224 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2443C>T (p.His815Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799583] |
Chr16:1204450 [GRCh38] Chr16:1254450 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.332T>C (p.Met111Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799574] |
Chr16:1195004 [GRCh38] Chr16:1245004 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5040-19T>C |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809786] |
Chr16:1215223 [GRCh38] Chr16:1265223 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6525C>T (p.Ala2175=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003800659] |
Chr16:1220457 [GRCh38] Chr16:1270457 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812358] |
Chr16:1211224 [GRCh38] Chr16:1261224 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5996C>G (p.Ser1999Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812404] |
Chr16:1219078 [GRCh38] Chr16:1269078 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813037] |
Chr16:1209057 [GRCh38] Chr16:1259057 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.804-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799694] |
Chr16:1200250 [GRCh38] Chr16:1250250 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3970-16C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799706] |
Chr16:1210567 [GRCh38] Chr16:1260567 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4566+5G>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812378] |
Chr16:1211810 [GRCh38] Chr16:1261810 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3096C>T (p.Asp1032=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813121] |
Chr16:1207802 [GRCh38] Chr16:1257802 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2448G>A (p.Glu816=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798660] |
Chr16:1204455 [GRCh38] Chr16:1254455 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3744+20C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799458] |
Chr16:1209432 [GRCh38] Chr16:1259432 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1227C>T (p.Phe409=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003817776] |
Chr16:1201677 [GRCh38] Chr16:1251677 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2451+18C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798991] |
Chr16:1204476 [GRCh38] Chr16:1254476 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5937C>T (p.Leu1979=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799531] |
Chr16:1219019 [GRCh38] Chr16:1269019 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003800050] |
Chr16:1153966 [GRCh38] Chr16:1203966 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003808713] |
Chr16:1215044 [GRCh38] Chr16:1265044 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1847_1862del (p.Ile616fs) |
deletion |
Idiopathic generalized epilepsy [RCV003800193] |
Chr16:1202297..1202312 [GRCh38] Chr16:1252297..1252312 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4050G>A (p.Leu1350=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798628] |
Chr16:1210798 [GRCh38] Chr16:1260798 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1360G>C (p.Gly454Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798663] |
Chr16:1201810 [GRCh38] Chr16:1251810 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2739C>T (p.Asp913=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003818062] |
Chr16:1206239 [GRCh38] Chr16:1256239 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1468G>C (p.Val490Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003818063] |
Chr16:1201918 [GRCh38] Chr16:1251918 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812685] |
Chr16:1200393 [GRCh38] Chr16:1250393 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3108C>T (p.Val1036=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003801760] |
Chr16:1207814 [GRCh38] Chr16:1257814 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3063+9_3063+21del |
deletion |
Idiopathic generalized epilepsy [RCV003801935] |
Chr16:1207433..1207445 [GRCh38] Chr16:1257433..1257445 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4782C>G (p.Ala1594=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812714] |
Chr16:1213784 [GRCh38] Chr16:1263784 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3154+4C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798167] |
Chr16:1207864 [GRCh38] Chr16:1257864 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809445] |
Chr16:1215077 [GRCh38] Chr16:1265077 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1491C>G (p.Gly497=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003817897] |
Chr16:1201941 [GRCh38] Chr16:1251941 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003818085] |
Chr16:1153931 [GRCh38] Chr16:1203931 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003818087] |
Chr16:1205228 [GRCh38] Chr16:1255228 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1447C>G (p.Gln483Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799292] |
Chr16:1201897 [GRCh38] Chr16:1251897 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5274C>G (p.Leu1758=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799309] |
Chr16:1216961 [GRCh38] Chr16:1266961 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003810484] |
Chr16:1212026 [GRCh38] Chr16:1262026 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_021098.3(CACNA1H):c.241T>C (p.Phe81Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798751] |
Chr16:1153978 [GRCh38] Chr16:1203978 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3084C>T (p.Asp1028=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798769] |
Chr16:1207790 [GRCh38] Chr16:1257790 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2082C>T (p.Thr694=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003801961] |
Chr16:1204089 [GRCh38] Chr16:1254089 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.411+20G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003808988] |
Chr16:1195103 [GRCh38] Chr16:1245103 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2415C>T (p.Val805=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813571] |
Chr16:1204422 [GRCh38] Chr16:1254422 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1727A>G (p.Tyr576Cys) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799873] |
Chr16:1202177 [GRCh38] Chr16:1252177 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003801015] |
Chr16:1219086 [GRCh38] Chr16:1269086 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.5946A>G (p.Pro1982=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003801978] |
Chr16:1219028 [GRCh38] Chr16:1269028 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4515A>G (p.Gly1505=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799904] |
Chr16:1211754 [GRCh38] Chr16:1261754 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003808205] |
Chr16:1213806 [GRCh38] Chr16:1263806 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6986C>T (p.Pro2329Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813247] |
Chr16:1220918 [GRCh38] Chr16:1270918 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003810487] |
Chr16:1207847 [GRCh38] Chr16:1257847 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813659] |
Chr16:1211776 [GRCh38] Chr16:1261776 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4567-6C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003808504] |
Chr16:1211940 [GRCh38] Chr16:1261940 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5353C>T (p.Leu1785=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812301] |
Chr16:1217948 [GRCh38] Chr16:1267948 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5683G>C (p.Asp1895His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798592] |
Chr16:1218447 [GRCh38] Chr16:1268447 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2039G>T (p.Ser680Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799623] |
Chr16:1204046 [GRCh38] Chr16:1254046 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6465G>T (p.Arg2155=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812720] |
Chr16:1220397 [GRCh38] Chr16:1270397 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2973C>T (p.Ala991=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003815652] |
Chr16:1207340 [GRCh38] Chr16:1257340 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5887+5G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813328] |
Chr16:1218656 [GRCh38] Chr16:1268656 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3483G>A (p.Gly1161=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003815539] |
Chr16:1209151 [GRCh38] Chr16:1259151 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003817696] |
Chr16:1218571 [GRCh38] Chr16:1268571 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812890] |
Chr16:1220500 [GRCh38] Chr16:1270500 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2840C>T (p.Thr947Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799390] |
Chr16:1207051 [GRCh38] Chr16:1257051 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3679G>A (p.Asp1227Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799565] |
Chr16:1209347 [GRCh38] Chr16:1259347 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4566+12C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799147] |
Chr16:1211817 [GRCh38] Chr16:1261817 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5174-6C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003800764] |
Chr16:1215517 [GRCh38] Chr16:1265517 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3390C>A (p.Ala1130=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812318] |
Chr16:1209058 [GRCh38] Chr16:1259058 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.1175C>T (p.Ser392Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799747] |
Chr16:1200771 [GRCh38] Chr16:1250771 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2603+14del |
deletion |
Idiopathic generalized epilepsy [RCV003809482] |
Chr16:1205277 [GRCh38] Chr16:1255277 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6234C>G (p.Cys2078Trp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812672] |
Chr16:1220166 [GRCh38] Chr16:1270166 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.5888-18G>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799405] |
Chr16:1218952 [GRCh38] Chr16:1268952 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003812988] |
Chr16:1206236 [GRCh38] Chr16:1256236 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2733C>T (p.Thr911=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799033] |
Chr16:1206233 [GRCh38] Chr16:1256233 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6233G>A (p.Cys2078Tyr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003799597] |
Chr16:1220165 [GRCh38] Chr16:1270165 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3154+4C>A |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003800629] |
Chr16:1207864 [GRCh38] Chr16:1257864 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2603+9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003813691] |
Chr16:1205274 [GRCh38] Chr16:1255274 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003815202] |
Chr16:1195495 [GRCh38] Chr16:1245495 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3363+12C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003798525] |
Chr16:1208233 [GRCh38] Chr16:1258233 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003809347] |
Chr16:1218249 [GRCh38] Chr16:1268249 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6498G>A (p.Gly2166=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003815470] |
Chr16:1220430 [GRCh38] Chr16:1270430 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1038G>T (p.Val346=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803646] |
Chr16:1200490 [GRCh38] Chr16:1250490 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4594C>T (p.Leu1532=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803596] |
Chr16:1211973 [GRCh38] Chr16:1261973 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803837] |
Chr16:1202341 [GRCh38] Chr16:1252341 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803158] |
Chr16:1206116 [GRCh38] Chr16:1256116 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802218] |
Chr16:1202362 [GRCh38] Chr16:1252362 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803591] |
Chr16:1202276 [GRCh38] Chr16:1252276 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.804-4C>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802335] |
Chr16:1200252 [GRCh38] Chr16:1250252 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:1252411-1297707)x1 |
copy number loss |
not specified [RCV003987194] |
Chr16:1252411..1297707 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4223+9C>T |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803624] |
Chr16:1210980 [GRCh38] Chr16:1260980 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1017C>T (p.Asn339=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802968] |
Chr16:1200469 [GRCh38] Chr16:1250469 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4425C>A (p.Ala1475=) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802975] |
Chr16:1211555 [GRCh38] Chr16:1261555 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.320T>C (p.Met107Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803401] |
Chr16:1194992 [GRCh38] Chr16:1244992 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803510] |
Chr16:1201949 [GRCh38] Chr16:1251949 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802206] |
Chr16:1210402 [GRCh38] Chr16:1260402 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802276] |
Chr16:1220021 [GRCh38] Chr16:1270021 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs) |
duplication |
Idiopathic generalized epilepsy [RCV003803475] |
Chr16:1220564..1220565 [GRCh38] Chr16:1270564..1270565 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803872] |
Chr16:1220093 [GRCh38] Chr16:1270093 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del) |
deletion |
Idiopathic generalized epilepsy [RCV003802564] |
Chr16:1219087..1219095 [GRCh38] Chr16:1269087..1269095 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_021098.3(CACNA1H):c.4039-15A>G |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003802645] |
Chr16:1210772 [GRCh38] Chr16:1260772 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2014G>A (p.Ala672Thr) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV003803987] |
Chr16:1204021 [GRCh38] Chr16:1254021 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.339C>T (p.Asn113=) |
single nucleotide variant |
not provided [RCV003886955] |
Chr16:1195011 [GRCh38] Chr16:1245011 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+8C>G |
single nucleotide variant |
CACNA1H-related condition [RCV003924339] |
Chr16:1213939 [GRCh38] Chr16:1263939 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6978C>G (p.Leu2326=) |
single nucleotide variant |
CACNA1H-related condition [RCV003966756] |
Chr16:1220910 [GRCh38] Chr16:1270910 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.1239G>A (p.Leu413=) |
single nucleotide variant |
CACNA1H-related condition [RCV003937250] |
Chr16:1201689 [GRCh38] Chr16:1251689 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.2460G>A (p.Glu820=) |
single nucleotide variant |
CACNA1H-related condition [RCV003967322] |
Chr16:1205122 [GRCh38] Chr16:1255122 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.4929+7G>T |
single nucleotide variant |
CACNA1H-related condition [RCV003929646] |
Chr16:1213938 [GRCh38] Chr16:1263938 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.3729C>T (p.Asp1243=) |
single nucleotide variant |
CACNA1H-related condition [RCV003971358] |
Chr16:1209397 [GRCh38] Chr16:1259397 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_021098.3(CACNA1H):c.6237C>T (p.Val2079=) |
single nucleotide variant |
CACNA1H-related condition [RCV003949731] |
Chr16:1220169 [GRCh38] Chr16:1270169 [GRCh37] Chr16:16p13.3 |
likely benign |