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# | Reference Title | Reference Citation |
1. | Voltage-gated calcium channels. | Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947. |
2. | Association between genetic variation of CACNA1H and childhood absence epilepsy. | Chen Y, etal., Ann Neurol 2003 Aug;54(2):239-43. |
3. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
10. | Upregulation of T-type Ca2+ channels in primary sensory neurons in spinal nerve injury. | Yue J, etal., Spine (Phila Pa 1976). 2013 Mar 15;38(6):463-70. doi: 10.1097/BRS.0b013e318272fbf8. |
PMID:8619474 | PMID:9110174 | PMID:9670923 | PMID:9930755 | PMID:10414291 | PMID:10861024 | PMID:11157797 | PMID:11751928 | PMID:11799114 | PMID:11927664 | PMID:12808460 | PMID:12853961 |
PMID:14529577 | PMID:14602827 | PMID:14631046 | PMID:14729682 | PMID:15498803 | PMID:15616553 | PMID:15833171 | PMID:15852375 | PMID:16133267 | PMID:16301824 | PMID:16303743 | PMID:16377633 |
PMID:16382099 | PMID:16443692 | PMID:16475676 | PMID:16504478 | PMID:16565161 | PMID:16754686 | PMID:16905256 | PMID:16973746 | PMID:17081983 | PMID:17156077 | PMID:17215393 | PMID:17696120 |
PMID:18218623 | PMID:18230611 | PMID:18309285 | PMID:18591418 | PMID:18708747 | PMID:19131331 | PMID:19144837 | PMID:19336002 | PMID:19342457 | PMID:19609347 | PMID:19641113 | PMID:19903827 |
PMID:19948975 | PMID:20147652 | PMID:20201926 | PMID:20394732 | PMID:20699644 | PMID:21059758 | PMID:21084288 | PMID:21099341 | PMID:21438841 | PMID:21788606 | PMID:21873635 | PMID:22130660 |
PMID:22469755 | PMID:22564432 | PMID:22572848 | PMID:22574369 | PMID:23111027 | PMID:23488970 | PMID:23503728 | PMID:23602568 | PMID:23626738 | PMID:23669360 | PMID:23671274 | PMID:23849427 |
PMID:23903007 | PMID:23970551 | PMID:24277868 | PMID:24508802 | PMID:25798074 | PMID:25889575 | PMID:25907736 | PMID:25931121 | PMID:26216687 | PMID:26220996 | PMID:26460568 | PMID:26483470 |
PMID:26488564 | PMID:26706850 | PMID:26745591 | PMID:27130589 | PMID:27149520 | PMID:27196538 | PMID:27258646 | PMID:27729216 | PMID:28165634 | PMID:28298427 | PMID:28330839 | PMID:28611215 |
PMID:28655554 | PMID:28846697 | PMID:28972185 | PMID:29507755 | PMID:29581247 | PMID:29720258 | PMID:29948376 | PMID:30686625 | PMID:31455361 | PMID:31527367 | PMID:31744861 | PMID:31983310 |
PMID:32143681 | PMID:32227660 | PMID:32785697 | PMID:33176830 | PMID:33478561 | PMID:33961781 | PMID:34098317 | PMID:34399820 | PMID:34544471 | PMID:35748872 | PMID:35757409 | PMID:36128556 |
PMID:36347081 | PMID:36397158 | PMID:36786913 | PMID:37827155 |
CACNA1H (Homo sapiens - human) |
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Cacna1h (Mus musculus - house mouse) |
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Cacna1h (Rattus norvegicus - Norway rat) |
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Cacna1h (Chinchilla lanigera - long-tailed chinchilla) |
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CACNA1H (Pan paniscus - bonobo/pygmy chimpanzee) |
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CACNA1H (Canis lupus familiaris - dog) |
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Cacna1h (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CACNA1H (Sus scrofa - pig) |
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CACNA1H (Chlorocebus sabaeus - green monkey) |
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Cacna1h (Heterocephalus glaber - naked mole-rat) |
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.
Variants in CACNA1H
2847 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
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 | 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 | 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 | 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|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 | 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 | 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 | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV001084752]|not provided [RCV000082070] | Chr16:1209223 [GRCh38] Chr16:1259223 [GRCh37] Chr16:16p13.3 |
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 | Ductal breast carcinoma [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 | Ductal breast carcinoma [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 | 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 | 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 | 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]|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 | 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 | 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 | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000549739]|not provided [RCV001764549] | Chr16:1153845 [GRCh38] Chr16:1203845 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 |
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 |
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 | 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 | Idiopathic generalized epilepsy [RCV000526839] | Chr16:1218385 [GRCh38] Chr16:1268385 [GRCh37] Chr16:16p13.3 |
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 | 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 |
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 |
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 |
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 | Epilepsy, childhood absence, susceptibility to, 6 [RCV002483796]|Idiopathic generalized epilepsy [RCV000635025]|Seizure [RCV001263292] | Chr16:1220129 [GRCh38] Chr16:1270129 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000635088]|not provided [RCV001766356] | Chr16:1220780 [GRCh38] Chr16:1270780 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000635153] | Chr16:1218047 [GRCh38] Chr16:1268047 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | Epilepsy, childhood absence, susceptibility to, 6 [RCV002506319]|Idiopathic generalized epilepsy [RCV001080190]|not provided [RCV000711133] | Chr16:1200271 [GRCh38] Chr16:1250271 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.4758G>A (p.Arg1586=) | single nucleotide variant | 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 | 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 | 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 | 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] | 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 |
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 |
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 |
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 |
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.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 | 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.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.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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000635137]|not specified [RCV001288105] | Chr16:1210973..1210974 [GRCh38] Chr16:1260973..1260974 [GRCh37] Chr16:16p13.3 |
benign |
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) | single nucleotide variant | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000532656]|not provided [RCV003392371] | Chr16:1208134 [GRCh38] Chr16:1258134 [GRCh37] Chr16:16p13.3 |
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 | 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 |
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.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 |
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 | 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 |
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 |
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 |
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 |
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 |
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 |
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 | 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 | 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 | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000950890]|not specified [RCV001664566] | Chr16:1207821 [GRCh38] Chr16:1257821 [GRCh37] Chr16:16p13.3 |
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] | 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 |
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]|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 | 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 | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV000891663] | Chr16:1201993 [GRCh38] Chr16:1251993 [GRCh37] Chr16:16p13.3 |
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 | not provided [RCV000915912] | 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 |
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 |
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 |
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 | 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 |
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 | 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 | 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 | 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 | Inborn genetic diseases [RCV003169242]|not provided [RCV000891773] | 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 |
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 | Idiopathic generalized epilepsy [RCV001223030] | Chr16:1212533 [GRCh38] Chr16:1262533 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | 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 | 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 | not provided [RCV000931310] | 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 |
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 | 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 | 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 | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
uncertain significance |
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=) | single nucleotide variant | Idiopathic generalized epilepsy [RCV001057143] | Chr16:1206257 [GRCh38] Chr16:1256257 [GRCh37] Chr16:16p13.3 |
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 |
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 |
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 | Epilepsy, childhood absence, susceptibility to, 6 [RCV002486442]|Idiopathic generalized epilepsy [RCV001350137] | Chr16:1211300 [GRCh38] Chr16:1261300 [GRCh37] Chr16:16p13.3 |
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.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.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 | 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 |
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 |
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 |
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 |
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 |
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 | 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 | 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]|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] | 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] | 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 |
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 | 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 |
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 |
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 |
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] | Chr16:1201880 [GRCh38] Chr16:1251880 [GRCh37] Chr16:16p13.3 |
benign|uncertain significance |
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys) | single nucleotide variant | Hyperaldosteronism, familial, type IV [RCV001329836] | 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 |
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 |
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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV001512912] | Chr16:1200706..1200707 [GRCh38] Chr16:1250706..1250707 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | 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 | Idiopathic generalized epilepsy [RCV001514123] | Chr16:1218638 [GRCh38] Chr16:1268638 [GRCh37] Chr16:16p13.3 |
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 | 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 | 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 | 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 | 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 | 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]|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.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.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]|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 | 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 |
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 |
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.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.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 |
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] | 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 |
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 | Idiopathic generalized epilepsy [RCV001967846] | Chr16:1204254 [GRCh38] Chr16:1254254 [GRCh37] Chr16:16p13.3 |
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 |
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 |
uncertain significance |
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser) | single nucleotide variant | Idiopathic generalized epilepsy [RCV002024002] | 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 |
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 |
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 |
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 | 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 |
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 |
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 | 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 |
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] | 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 |
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 | 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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] | 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 | 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] | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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.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 |
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.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.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] | 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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 | 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.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.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.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.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.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.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.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.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.306C>T (p.Phe102=) | single nucleotide variant | Idiopathic generalized epilepsy [RCV003780489] | Chr16:1194978 [GRCh38] Chr16:1244978 [GRCh37] Chr16:16p13.3 |
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.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.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] | Chr16:1200377 [GRCh38] Chr16:1250377 [GRCh37] Chr16:16p13.3 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
CACNA1H_1248 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 1979 | 1229 | 1298 | 144 | 129 | 144 | 2918 | 970 | 1514 | 135 | 1180 | 1251 | 2 | 981 | 1773 | ||
Low | 386 | 1200 | 396 | 456 | 610 | 296 | 1384 | 1205 | 2087 | 255 | 208 | 270 | 166 | 1 | 223 | 1015 | 3 |
Below cutoff | 31 | 558 | 23 | 20 | 727 | 20 | 27 | 14 | 98 | 17 | 42 | 47 | 3 | 3 |
RefSeq Transcripts | NG_012647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001005407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005255652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006720963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006720964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006720965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006720967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006720968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011522724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011522727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047434836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054314273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002957850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008484746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC120498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AE006466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF051946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF070604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF073931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH009202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ420779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL031703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL031715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM554380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA335096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD243650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ363526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ363527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ363528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ363529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000348261 ⟹ ENSP00000334198 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000358590 ⟹ ENSP00000351401 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000562079 ⟹ ENSP00000454581 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000564231 ⟹ ENSP00000457555 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000564954 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000565831 ⟹ ENSP00000455840 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000569107 ⟹ ENSP00000454990 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000569953 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000621827 ⟹ ENSP00000518766 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000637236 ⟹ ENSP00000492650 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638323 ⟹ ENSP00000492267 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639478 ⟹ ENSP00000491945 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640028 ⟹ ENSP00000491488 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711438 ⟹ ENSP00000518754 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711442 ⟹ ENSP00000518758 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711443 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711447 ⟹ ENSP00000518759 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711448 ⟹ ENSP00000518760 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711449 ⟹ ENSP00000518761 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711450 ⟹ ENSP00000518762 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711451 ⟹ ENSP00000518763 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711452 ⟹ ENSP00000518764 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711453 ⟹ ENSP00000518765 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711455 ⟹ ENSP00000518768 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711456 ⟹ ENSP00000518769 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711481 ⟹ ENSP00000518770 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711482 ⟹ ENSP00000518771 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711483 ⟹ ENSP00000518772 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711484 ⟹ ENSP00000518773 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711485 ⟹ ENSP00000518774 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711486 ⟹ ENSP00000518775 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711487 ⟹ ENSP00000518776 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711488 ⟹ ENSP00000518777 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711489 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711490 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000711493 ⟹ ENSP00000518778 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001005407 ⟹ NP_001005407 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_021098 ⟹ NP_066921 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005255652 ⟹ XP_005255709 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006720963 ⟹ XP_006721026 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006720964 ⟹ XP_006721027 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006720965 ⟹ XP_006721028 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006720967 ⟹ XP_006721030 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006720968 ⟹ XP_006721031 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522724 ⟹ XP_011521026 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522727 ⟹ XP_011521029 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017023819 ⟹ XP_016879308 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017023820 ⟹ XP_016879309 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017023821 ⟹ XP_016879310 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047434836 ⟹ XP_047290792 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314262 ⟹ XP_054170237 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314263 ⟹ XP_054170238 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314264 ⟹ XP_054170239 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314265 ⟹ XP_054170240 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314266 ⟹ XP_054170241 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314267 ⟹ XP_054170242 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314268 ⟹ XP_054170243 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314269 ⟹ XP_054170244 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314270 ⟹ XP_054170245 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314271 ⟹ XP_054170246 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314272 ⟹ XP_054170247 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054314273 ⟹ XP_054170248 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_002957850 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XR_008484746 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001005407 | (Get FASTA) | NCBI Sequence Viewer |
NP_066921 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005255709 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006721026 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006721027 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006721028 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006721030 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006721031 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011521026 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011521029 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016879308 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016879309 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016879310 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047290792 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170237 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170238 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170239 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170240 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170241 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170242 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170243 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170244 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170245 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170246 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170247 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054170248 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC67239 | (Get FASTA) | NCBI Sequence Viewer |
AAD17668 | (Get FASTA) | NCBI Sequence Viewer | |
AAF60160 | (Get FASTA) | NCBI Sequence Viewer | |
AAF60163 | (Get FASTA) | NCBI Sequence Viewer | |
AAK61268 | (Get FASTA) | NCBI Sequence Viewer | |
ABC88009 | (Get FASTA) | NCBI Sequence Viewer | |
ABC88010 | (Get FASTA) | NCBI Sequence Viewer | |
ABC88011 | (Get FASTA) | NCBI Sequence Viewer | |
ABC88012 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52041 | (Get FASTA) | NCBI Sequence Viewer | |
CAC42094 | (Get FASTA) | NCBI Sequence Viewer | |
CAD12646 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85683 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85684 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000334198 | ||
ENSP00000334198.7 | |||
ENSP00000351401.4 | |||
ENSP00000454581 | |||
ENSP00000454581.1 | |||
ENSP00000454990 | |||
ENSP00000454990.1 | |||
ENSP00000455840 | |||
ENSP00000455840.1 | |||
ENSP00000457555 | |||
ENSP00000457555.1 | |||
ENSP00000491488.1 | |||
ENSP00000491945 | |||
ENSP00000491945.1 | |||
ENSP00000492267.1 | |||
ENSP00000492650 | |||
ENSP00000492650.1 | |||
ENSP00000518754 | |||
ENSP00000518759 | |||
ENSP00000518763 | |||
ENSP00000518772 | |||
GenBank Protein | O95180 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_066921 ⟸ NM_021098 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9NYY4 (UniProtKB/Swiss-Prot), Q96RZ9 (UniProtKB/Swiss-Prot), Q96QI6 (UniProtKB/Swiss-Prot), Q8WWI6 (UniProtKB/Swiss-Prot), O95802 (UniProtKB/Swiss-Prot), F8WFD1 (UniProtKB/Swiss-Prot), B5ME00 (UniProtKB/Swiss-Prot), Q9NYY5 (UniProtKB/Swiss-Prot), O95180 (UniProtKB/Swiss-Prot), A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001005407 ⟸ NM_001005407 |
- Peptide Label: | isoform b |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005255709 ⟸ XM_005255652 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006721030 ⟸ XM_006720967 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A1W2PQW2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006721031 ⟸ XM_006720968 |
- Peptide Label: | isoform X10 |
- Sequence: |
RefSeq Acc Id: | XP_006721026 ⟸ XM_006720963 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006721027 ⟸ XM_006720964 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006721028 ⟸ XM_006720965 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011521029 ⟸ XM_011522727 |
- Peptide Label: | isoform X11 |
- Sequence: |
RefSeq Acc Id: | XP_011521026 ⟸ XM_011522724 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016879308 ⟸ XM_017023819 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016879309 ⟸ XM_017023820 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016879310 ⟸ XM_017023821 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | ENSP00000492650 ⟸ ENST00000637236 |
RefSeq Acc Id: | ENSP00000334198 ⟸ ENST00000348261 |
RefSeq Acc Id: | ENSP00000492267 ⟸ ENST00000638323 |
RefSeq Acc Id: | ENSP00000491945 ⟸ ENST00000639478 |
RefSeq Acc Id: | ENSP00000491488 ⟸ ENST00000640028 |
RefSeq Acc Id: | ENSP00000454581 ⟸ ENST00000562079 |
RefSeq Acc Id: | ENSP00000457555 ⟸ ENST00000564231 |
RefSeq Acc Id: | ENSP00000455840 ⟸ ENST00000565831 |
RefSeq Acc Id: | ENSP00000454990 ⟸ ENST00000569107 |
RefSeq Acc Id: | ENSP00000351401 ⟸ ENST00000358590 |
RefSeq Acc Id: | XP_047290792 ⟸ XM_047434836 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170243 ⟸ XM_054314268 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170237 ⟸ XM_054314262 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170238 ⟸ XM_054314263 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170240 ⟸ XM_054314265 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170241 ⟸ XM_054314266 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170239 ⟸ XM_054314264 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054170244 ⟸ XM_054314269 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054170245 ⟸ XM_054314270 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054170246 ⟸ XM_054314271 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_054170247 ⟸ XM_054314272 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054170248 ⟸ XM_054314273 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_054170242 ⟸ XM_054314267 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A1W2PR14 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000518773 ⟸ ENST00000711484 |
RefSeq Acc Id: | ENSP00000518761 ⟸ ENST00000711449 |
RefSeq Acc Id: | ENSP00000518766 ⟸ ENST00000621827 |
RefSeq Acc Id: | ENSP00000518772 ⟸ ENST00000711483 |
RefSeq Acc Id: | ENSP00000518768 ⟸ ENST00000711455 |
RefSeq Acc Id: | ENSP00000518771 ⟸ ENST00000711482 |
RefSeq Acc Id: | ENSP00000518774 ⟸ ENST00000711485 |
RefSeq Acc Id: | ENSP00000518765 ⟸ ENST00000711453 |
RefSeq Acc Id: | ENSP00000518764 ⟸ ENST00000711452 |
RefSeq Acc Id: | ENSP00000518760 ⟸ ENST00000711448 |
RefSeq Acc Id: | ENSP00000518775 ⟸ ENST00000711486 |
RefSeq Acc Id: | ENSP00000518759 ⟸ ENST00000711447 |
RefSeq Acc Id: | ENSP00000518762 ⟸ ENST00000711450 |
RefSeq Acc Id: | ENSP00000518754 ⟸ ENST00000711438 |
RefSeq Acc Id: | ENSP00000518763 ⟸ ENST00000711451 |
RefSeq Acc Id: | ENSP00000518777 ⟸ ENST00000711488 |
RefSeq Acc Id: | ENSP00000518769 ⟸ ENST00000711456 |
RefSeq Acc Id: | ENSP00000518758 ⟸ ENST00000711442 |
RefSeq Acc Id: | ENSP00000518778 ⟸ ENST00000711493 |
RefSeq Acc Id: | ENSP00000518770 ⟸ ENST00000711481 |
RefSeq Acc Id: | ENSP00000518776 ⟸ ENST00000711487 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O95180-F1-model_v2 | AlphaFold | O95180 | 1-2353 | view protein structure |
RGD ID: | 7230865 | ||||||||
Promoter ID: | EPDNEW_H21178 | ||||||||
Type: | initiation region | ||||||||
Name: | CACNA1H_1 | ||||||||
Description: | calcium voltage-gated channel subunit alpha1 H | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21179 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7230867 | ||||||||
Promoter ID: | EPDNEW_H21179 | ||||||||
Type: | initiation region | ||||||||
Name: | CACNA1H_2 | ||||||||
Description: | calcium voltage-gated channel subunit alpha1 H | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21178 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1395 | AgrOrtholog |
COSMIC | CACNA1H | COSMIC |
Ensembl Genes | ENSG00000196557 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000348261 | ENTREZGENE |
ENST00000348261.11 | UniProtKB/Swiss-Prot | |
ENST00000358590.8 | UniProtKB/Swiss-Prot | |
ENST00000562079 | ENTREZGENE | |
ENST00000562079.5 | UniProtKB/TrEMBL | |
ENST00000564231 | ENTREZGENE | |
ENST00000564231.5 | UniProtKB/TrEMBL | |
ENST00000565831 | ENTREZGENE | |
ENST00000565831.6 | UniProtKB/Swiss-Prot | |
ENST00000569107 | ENTREZGENE | |
ENST00000569107.5 | UniProtKB/TrEMBL | |
ENST00000637236 | ENTREZGENE | |
ENST00000637236.2 | UniProtKB/TrEMBL | |
ENST00000638323.1 | UniProtKB/TrEMBL | |
ENST00000639478 | ENTREZGENE | |
ENST00000639478.1 | UniProtKB/TrEMBL | |
ENST00000640028.1 | UniProtKB/TrEMBL | |
ENST00000711438 | ENTREZGENE | |
ENST00000711447 | ENTREZGENE | |
ENST00000711451 | ENTREZGENE | |
ENST00000711483 | ENTREZGENE | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.120.350 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000196557 | GTEx |
HGNC ID | HGNC:1395 | ENTREZGENE |
Human Proteome Map | CACNA1H | Human Proteome Map |
InterPro | Ion_trans_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
VDCC_T_a1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VGCC_Ca_Na | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Volt_channel_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:8912 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 8912 | ENTREZGENE |
OMIM | 607904 | OMIM |
PANTHER | PTHR10037 | UniProtKB/TrEMBL |
VOLTAGE-DEPENDENT CALCIUM CHANNEL TYPE A SUBUNIT ALPHA-1 | UniProtKB/TrEMBL | |
VOLTAGE-DEPENDENT T-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1H | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VOLTAGE-DEPENDENT T-TYPE CALCIUM CHANNEL SUBUNIT ALPHA-1H | UniProtKB/TrEMBL | |
VOLTAGE-GATED CATION CHANNEL CALCIUM AND SODIUM | UniProtKB/Swiss-Prot | |
Pfam | Ion_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | CACNA1H | RGD, PharmGKB |
PRINTS | TVDCCALPHA1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Voltage-gated potassium channels | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1W2PQ19_HUMAN | UniProtKB/TrEMBL |
A0A1W2PQW2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A1W2PR14 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A1W2PS38_HUMAN | UniProtKB/TrEMBL | |
A2SX35_HUMAN | UniProtKB/TrEMBL | |
A2SX36_HUMAN | UniProtKB/TrEMBL | |
A2SX37_HUMAN | UniProtKB/TrEMBL | |
A2SX38_HUMAN | UniProtKB/TrEMBL | |
B3KQH9_HUMAN | UniProtKB/TrEMBL | |
B5ME00 | ENTREZGENE | |
CAC1H_HUMAN | UniProtKB/Swiss-Prot | |
F8WFD1 | ENTREZGENE | |
H3BMW6_HUMAN | UniProtKB/TrEMBL | |
H3BNT0_HUMAN | UniProtKB/TrEMBL | |
H3BUA8_HUMAN | UniProtKB/TrEMBL | |
O95180 | ENTREZGENE | |
O95802 | ENTREZGENE | |
Q8WWI6 | ENTREZGENE | |
Q96QI6 | ENTREZGENE | |
Q96RZ9 | ENTREZGENE | |
Q9NYY4 | ENTREZGENE | |
Q9NYY5 | ENTREZGENE | |
Q9NYY6_HUMAN | UniProtKB/TrEMBL | |
Q9NYY7_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B5ME00 | UniProtKB/Swiss-Prot |
F8WFD1 | UniProtKB/Swiss-Prot | |
O95802 | UniProtKB/Swiss-Prot | |
Q8WWI6 | UniProtKB/Swiss-Prot | |
Q96QI6 | UniProtKB/Swiss-Prot | |
Q96RZ9 | UniProtKB/Swiss-Prot | |
Q9NYY4 | UniProtKB/Swiss-Prot | |
Q9NYY5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | CACNA1H | calcium voltage-gated channel subunit alpha1 H | CACNA1H | calcium channel, voltage-dependent, T type, alpha 1H subunit | Symbol and/or name change | 5135510 | APPROVED |