CACNA1H (calcium voltage-gated channel subunit alpha1 H) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CACNA1H (calcium voltage-gated channel subunit alpha1 H) Homo sapiens
Analyze
Symbol: CACNA1H
Name: calcium voltage-gated channel subunit alpha1 H
RGD ID: 68993
HGNC Page HGNC:1395
Description: Enables low voltage-gated calcium channel activity and scaffold protein binding activity. Involved in several processes, including cellular response to potassium ion; positive regulation of acrosome reaction; and steroid hormone biosynthetic process. Located in plasma membrane. Implicated in childhood absence epilepsy and primary hyperaldosteronism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CACNA1HB; calcium channel, voltage-dependent, T type, alpha 1H subunit; calcium channel, voltage-dependent, T type, alpha 1Hb subunit; Cav3.2; ECA6; EIG6; FLJ90484; HALD4; low-voltage-activated calcium channel alpha1 3.2 subunit; low-voltage-activated calcium channel alpha13.2 subunit; voltage dependent t-type calcium channel alpha-1H subunit; voltage-dependent T-type calcium channel subunit alpha-1H; voltage-gated calcium channel alpha subunit Cav3.2; voltage-gated calcium channel alpha subunit CavT.2; voltage-gated calcium channel subunit alpha Cav3.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,153,106 - 1,221,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,153,103 - 1,224,169 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,203,106 - 1,271,768 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,143,242 - 1,211,773 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,143,241 - 1,211,772NCBI
Celera161,418,957 - 1,487,666 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,111,743 - 1,204,831 (+)NCBIHuRef
CHM1_1161,179,129 - 1,271,446 (+)NCBICHM1_1
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
3-cyanoalanine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamiprid  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
amiloride  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
barium(0)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (ISO)
buta-1,3-diene  (ISO)
Butylparaben  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
cefaloridine  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
colforsin daropate hydrochloride  (ISO)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
desferrioxamine B  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
enzacamene  (ISO)
ethanol  (ISO)
fluoxetine  (ISO)
gentamycin  (ISO)
herbimycin  (EXP)
hexamethylene diisocyanate  (EXP)
imidacloprid  (ISO)
ketoconazole  (ISO)
KN-93  (ISO)
L-ascorbic acid  (ISO)
leflunomide  (EXP)
linsidomine  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
mevalonic acid  (ISO)
Mibefradil  (EXP,ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP,ISO)
niclosamide  (EXP)
nicotine  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (ISO)
phenylarsine oxide  (EXP)
potassium dichromate  (ISO)
raloxifene  (ISO)
rotenone  (EXP)
SB 203580  (ISO)
silicon dioxide  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
telmisartan  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vincristine  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway   (EXP)
calcium transport pathway   (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway   (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

References - curated
# 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.
Additional References at PubMed
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  


Genomics

Comparative Map Data
CACNA1H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,153,106 - 1,221,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,153,103 - 1,224,169 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,203,106 - 1,271,768 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,143,242 - 1,211,773 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,143,241 - 1,211,772NCBI
Celera161,418,957 - 1,487,666 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,111,743 - 1,204,831 (+)NCBIHuRef
CHM1_1161,179,129 - 1,271,446 (+)NCBICHM1_1
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBIT2T-CHM13v2.0
Cacna1h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,593,259 - 25,655,308 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,593,259 - 25,652,759 (-)EnsemblGRCm39 Ensembl
GRCm381725,374,285 - 25,436,334 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,374,285 - 25,433,783 (-)EnsemblGRCm38mm10GRCm38
MGSCv371725,511,232 - 25,570,728 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361725,101,887 - 25,161,368 (-)NCBIMGSCv36mm8
Celera1725,902,087 - 25,961,468 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Cacna1h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,894,630 - 14,952,317 (-)NCBIGRCr8
mRatBN7.21014,390,104 - 14,448,204 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,390,113 - 14,448,376 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1019,130,825 - 19,188,496 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01018,619,694 - 18,677,363 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01014,118,873 - 14,176,544 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01014,730,932 - 14,789,201 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,730,941 - 14,788,617 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,547,456 - 14,605,627 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,621,372 - 14,679,051 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11014,621,371 - 14,679,051 (-)NCBI
Celera1014,061,778 - 14,119,454 (-)NCBICelera
Cytogenetic Map10q12NCBI
Cacna1h
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544216,045,895 - 16,108,862 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544216,047,965 - 16,108,862 (-)NCBIChiLan1.0ChiLan1.0
CACNA1H
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2181,406,005 - 1,477,547 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,187,949 - 5,257,891 (+)NCBINHGRI_mPanPan1
PanPan1.1161,195,991 - 1,222,917 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl161,195,364 - 1,222,917 (+)Ensemblpanpan1.1panPan2
CACNA1H
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,510,129 - 39,533,129 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,510,121 - 39,533,753 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,776,915 - 40,826,321 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,855,337 - 39,904,743 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,855,796 - 39,878,507 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,531,855 - 39,581,243 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,504,487 - 39,553,874 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,983,132 - 40,032,548 (-)NCBIUU_Cfam_GSD_1.0
Cacna1h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344103,984,951 - 104,007,239 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366942,702,224 - 2,724,574 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,637,427 - 40,695,177 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,637,420 - 40,694,616 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CACNA1H
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,039,709 - 1,106,212 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,078,973 - 1,106,507 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,985,587 - 30,052,739 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna1h
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249131,891,156 - 1,949,633 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249131,926,405 - 1,952,426 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA1H
2847 total Variants

Clinical 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3520
Count of miRNA genes:690
Interacting mature miRNAs:802
Transcripts:ENST00000348261, ENST00000358590, ENST00000562079, ENST00000564231, ENST00000564927, ENST00000564954, ENST00000565831, ENST00000569107, ENST00000569953
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.

Markers in Region
CACNA1H_1248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,270,804 - 1,271,697UniSTSGRCh37
Build 36161,210,805 - 1,211,698RGDNCBI36
Celera161,486,698 - 1,487,591RGD
HuRef161,203,863 - 1,204,756UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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

Sequence

Nucleotide Sequences
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:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,768 (+)Ensembl
RefSeq Acc Id: ENST00000358590   ⟹   ENSP00000351401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,241 - 1,221,771 (+)Ensembl
RefSeq Acc Id: ENST00000562079   ⟹   ENSP00000454581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,112 - 1,221,768 (+)Ensembl
RefSeq Acc Id: ENST00000564231   ⟹   ENSP00000457555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,143 - 1,224,126 (+)Ensembl
RefSeq Acc Id: ENST00000564954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,195,029 - 1,198,934 (+)Ensembl
RefSeq Acc Id: ENST00000565831   ⟹   ENSP00000455840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,108 - 1,221,765 (+)Ensembl
RefSeq Acc Id: ENST00000569107   ⟹   ENSP00000454990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,084 (+)Ensembl
RefSeq Acc Id: ENST00000569953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,210,608 - 1,211,448 (+)Ensembl
RefSeq Acc Id: ENST00000621827   ⟹   ENSP00000518766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,224,169 (+)Ensembl
RefSeq Acc Id: ENST00000637236   ⟹   ENSP00000492650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000638323   ⟹   ENSP00000492267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,241 - 1,221,771 (+)Ensembl
RefSeq Acc Id: ENST00000639478   ⟹   ENSP00000491945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,241 - 1,221,771 (+)Ensembl
RefSeq Acc Id: ENST00000640028   ⟹   ENSP00000491488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,241 - 1,221,771 (+)Ensembl
RefSeq Acc Id: ENST00000711438   ⟹   ENSP00000518754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,328 - 1,224,117 (+)Ensembl
RefSeq Acc Id: ENST00000711442   ⟹   ENSP00000518758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,108 - 1,221,770 (+)Ensembl
RefSeq Acc Id: ENST00000711443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,182,023 - 1,203,158 (+)Ensembl
RefSeq Acc Id: ENST00000711447   ⟹   ENSP00000518759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,103 - 1,221,764 (+)Ensembl
RefSeq Acc Id: ENST00000711448   ⟹   ENSP00000518760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,764 (+)Ensembl
RefSeq Acc Id: ENST00000711449   ⟹   ENSP00000518761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,768 (+)Ensembl
RefSeq Acc Id: ENST00000711450   ⟹   ENSP00000518762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,768 (+)Ensembl
RefSeq Acc Id: ENST00000711451   ⟹   ENSP00000518763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711452   ⟹   ENSP00000518764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711453   ⟹   ENSP00000518765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711455   ⟹   ENSP00000518768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,117 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711456   ⟹   ENSP00000518769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711481   ⟹   ENSP00000518770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,203,265 (+)Ensembl
RefSeq Acc Id: ENST00000711482   ⟹   ENSP00000518771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,764 (+)Ensembl
RefSeq Acc Id: ENST00000711483   ⟹   ENSP00000518772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711484   ⟹   ENSP00000518773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711485   ⟹   ENSP00000518774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,772 (+)Ensembl
RefSeq Acc Id: ENST00000711486   ⟹   ENSP00000518775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,224,084 (+)Ensembl
RefSeq Acc Id: ENST00000711487   ⟹   ENSP00000518776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,224,145 (+)Ensembl
RefSeq Acc Id: ENST00000711488   ⟹   ENSP00000518777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,118 - 1,221,769 (+)Ensembl
RefSeq Acc Id: ENST00000711489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,212,895 - 1,221,768 (+)Ensembl
RefSeq Acc Id: ENST00000711490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,212,925 - 1,221,768 (+)Ensembl
RefSeq Acc Id: ENST00000711493   ⟹   ENSP00000518778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,153,106 - 1,221,762 (+)Ensembl
RefSeq Acc Id: NM_001005407   ⟹   NP_001005407
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
GRCh37161,203,241 - 1,271,772 (+)ENTREZGENE
Build 36161,143,242 - 1,211,773 (+)NCBI Archive
HuRef161,111,743 - 1,204,831 (+)ENTREZGENE
CHM1_1161,179,129 - 1,271,446 (+)NCBI
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021098   ⟹   NP_066921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
GRCh37161,203,241 - 1,271,772 (+)ENTREZGENE
Build 36161,143,242 - 1,211,773 (+)NCBI Archive
HuRef161,111,743 - 1,204,831 (+)ENTREZGENE
CHM1_1161,179,129 - 1,271,446 (+)NCBI
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255652   ⟹   XP_005255709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
GRCh37161,203,241 - 1,271,772 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720963   ⟹   XP_006721026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720964   ⟹   XP_006721027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720965   ⟹   XP_006721028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720967   ⟹   XP_006721030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,215,083 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720968   ⟹   XP_006721031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,215,083 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522724   ⟹   XP_011521026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,195,572 - 1,221,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522727   ⟹   XP_011521029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,209,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023819   ⟹   XP_016879308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023820   ⟹   XP_016879309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,215,332 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023821   ⟹   XP_016879310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,215,083 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434836   ⟹   XP_047290792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,221,768 (+)NCBI
RefSeq Acc Id: XM_054314262   ⟹   XP_054170237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314263   ⟹   XP_054170238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314264   ⟹   XP_054170239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314265   ⟹   XP_054170240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314266   ⟹   XP_054170241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314267   ⟹   XP_054170242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,210,718 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314268   ⟹   XP_054170243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,237,078 (+)NCBI
RefSeq Acc Id: XM_054314269   ⟹   XP_054170244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,230,641 (+)NCBI
RefSeq Acc Id: XM_054314270   ⟹   XP_054170245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,230,392 (+)NCBI
RefSeq Acc Id: XM_054314271   ⟹   XP_054170246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,230,392 (+)NCBI
RefSeq Acc Id: XM_054314272   ⟹   XP_054170247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,230,392 (+)NCBI
RefSeq Acc Id: XM_054314273   ⟹   XP_054170248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,224,334 (+)NCBI
RefSeq Acc Id: XR_002957850
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,210,462 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008484746
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,165,753 - 1,225,771 (+)NCBI
Protein Sequences
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
Protein Domains
Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95180-F1-model_v2 AlphaFold O95180 1-2353 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,106 - 1,153,166EPDNEW
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:
Human AssemblyChrPosition (strand)Source
GRCh38161,153,410 - 1,153,470EPDNEW

Additional Information

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


Nomenclature History
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