CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2) - Rat Genome Database

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Gene: CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2) Homo sapiens
Analyze
Symbol: CACNA2D2
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 2
RGD ID: 737609
HGNC Page HGNC:1400
Description: Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to act upstream of or within several processes, including neuromuscular junction development; positive regulation of organ growth; and rhythmic synaptic transmission. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated calcium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha 2 delta calcium channel subunit; alpha2delta-2; CACNA2D; calcium channel, voltage dependent, alpha2/delta subunit 2; calcium channel, voltage-dependent, alpha 2/delta subunit 2; CASVDD; gene 26; KIAA0558; LUAC11.1; voltage-dependent calcium channel subunit alpha-2/delta-2; voltage-gated calcium channel subunit alpha-2/delta-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
GRCh38350,362,613 - 50,504,244 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl350,362,613 - 50,504,244 (-)EnsemblGRCh38hg38GRCh38
GRCh37350,400,044 - 50,541,675 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36350,375,234 - 50,515,896 (-)NCBINCBI36Build 36hg18NCBI36
Build 34350,375,233 - 50,515,896NCBI
Celera350,373,061 - 50,513,724 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef350,455,831 - 50,596,932 (-)NCBIHuRef
CHM1_1350,352,505 - 50,493,122 (-)NCBICHM1_1
T2T-CHM13v2.0350,392,335 - 50,534,145 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
alfentanil pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
arrhythmogenic right ventricular cardiomyopathy pathway  (IEA)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
felodipine pharmacokinetics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
gliclazide pharmacodynamics pathway  (EXP)
glyburide pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
hypertrophic cardiomyopathy pathway  (IEA)
ibutilide pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway   (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nadolol pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway   (EXP)
potassium channel inhibitors pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
6. miR-1231 exacerbates arrhythmia by targeting calciumchannel geneCACNA2D2in myocardial infarction. Zhang J, etal., Am J Transl Res. 2017 Apr 15;9(4):1822-1833. eCollection 2017.
Additional References at PubMed
PMID:9628581   PMID:10737800   PMID:10762351   PMID:10766861   PMID:11085536   PMID:11292331   PMID:11851383   PMID:12477932   PMID:12555074   PMID:12771254   PMID:15027117   PMID:15033513  
PMID:15111129   PMID:15331424   PMID:16344560   PMID:17135419   PMID:19490893   PMID:19927152   PMID:20561025   PMID:21651903   PMID:21809394   PMID:21873635   PMID:23339110   PMID:23402298  
PMID:24358150   PMID:25366495   PMID:25619833   PMID:26186194   PMID:28514442   PMID:28611215   PMID:30561431   PMID:30948266   PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
CACNA2D2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38350,362,613 - 50,504,244 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl350,362,613 - 50,504,244 (-)EnsemblGRCh38hg38GRCh38
GRCh37350,400,044 - 50,541,675 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36350,375,234 - 50,515,896 (-)NCBINCBI36Build 36hg18NCBI36
Build 34350,375,233 - 50,515,896NCBI
Celera350,373,061 - 50,513,724 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef350,455,831 - 50,596,932 (-)NCBIHuRef
CHM1_1350,352,505 - 50,493,122 (-)NCBICHM1_1
T2T-CHM13v2.0350,392,335 - 50,534,145 (-)NCBIT2T-CHM13v2.0
Cacna2d2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399107,276,948 - 107,406,545 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9107,276,811 - 107,406,542 (+)EnsemblGRCm39 Ensembl
GRCm389107,399,733 - 107,529,346 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9107,399,612 - 107,529,343 (+)EnsemblGRCm38mm10GRCm38
MGSCv379107,302,211 - 107,431,674 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369107,257,713 - 107,387,159 (+)NCBIMGSCv36mm8
Celera9107,007,997 - 107,138,095 (+)NCBICelera
Cytogenetic Map9F1NCBI
cM Map958.02NCBI
Cacna2d2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88116,950,860 - 117,082,159 (+)NCBIGRCr8
mRatBN7.28108,072,208 - 108,203,516 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8108,072,454 - 108,203,173 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8113,699,122 - 113,828,659 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08111,898,292 - 112,027,815 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08109,741,072 - 109,870,596 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08116,154,661 - 116,285,643 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8116,154,736 - 116,284,985 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08115,510,729 - 115,641,903 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48112,643,409 - 112,775,460 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18112,662,863 - 112,794,915 (+)NCBI
Celera8107,381,970 - 107,508,046 (+)NCBICelera
Cytogenetic Map8q32NCBI
Cacna2d2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555322,163,529 - 2,283,508 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555322,163,529 - 2,283,509 (-)NCBIChiLan1.0ChiLan1.0
CACNA2D2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2250,343,478 - 50,484,673 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1350,348,253 - 50,489,448 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0350,288,926 - 50,430,152 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1351,524,200 - 51,638,249 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl351,526,075 - 51,640,406 (-)Ensemblpanpan1.1panPan2
CACNA2D2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12038,859,047 - 38,995,239 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2038,883,530 - 38,993,273 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2038,778,136 - 38,916,454 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02039,213,098 - 39,351,432 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2039,212,486 - 39,351,069 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12038,580,983 - 38,719,283 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02038,984,749 - 39,122,858 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02039,264,526 - 39,402,846 (+)NCBIUU_Cfam_GSD_1.0
Cacna2d2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560265,127,442 - 65,263,213 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365291,889,846 - 2,023,715 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365291,889,811 - 2,023,710 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA2D2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1332,845,115 - 32,988,774 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11332,845,110 - 32,988,851 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21336,023,325 - 36,167,052 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA2D2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12211,751,026 - 11,891,407 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2211,749,727 - 11,890,924 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041155,095,234 - 155,235,652 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cacna2d2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247304,212,901 - 4,345,849 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247304,211,189 - 4,346,119 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACNA2D2
1048 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006030.4(CACNA2D2):c.2295C>T (p.Asn765=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000549546] Chr3:50367644 [GRCh38]
Chr3:50405075 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1066T>C (p.Phe356Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000527680] Chr3:50379518 [GRCh38]
Chr3:50416949 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.17G>C (p.Arg6Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000529487] Chr3:50503407 [GRCh38]
Chr3:50540838 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.316G>A (p.Glu106Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001367623] Chr3:50434402 [GRCh38]
Chr3:50471833 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.188G>A (p.Ser63Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000546364] Chr3:50503236 [GRCh38]
Chr3:50540667 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1228G>A (p.Val410Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000552621] Chr3:50379124 [GRCh38]
Chr3:50416555 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3370C>T (p.Leu1124Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000544169]|not provided [RCV002274061] Chr3:50364728 [GRCh38]
Chr3:50402159 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.246C>T (p.Asp82=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000550444]|not provided [RCV003437246] Chr3:50476160 [GRCh38]
Chr3:50513591 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.615C>T (p.Tyr205=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000545935] Chr3:50384233 [GRCh38]
Chr3:50421664 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2297A>C (p.Lys766Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000525537] Chr3:50367642 [GRCh38]
Chr3:50405073 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1295del (p.Asn432fs) deletion Cerebellar atrophy with seizures and variable developmental delay [RCV000087148] Chr3:50378959 [GRCh38]
Chr3:50416390 [GRCh37]
Chr3:3p21.31		 pathogenic|uncertain significance
NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV001804159] Chr3:50365164 [GRCh38]
Chr3:50402595 [GRCh37]
Chr3:3p21.31		 pathogenic|uncertain significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_006030.4(CACNA2D2):c.2350C>T (p.Arg784Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000542245]|Inborn genetic diseases [RCV002527745] Chr3:50367445 [GRCh38]
Chr3:50404876 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2		 pathogenic
NM_006030.4(CACNA2D2):c.1923C>T (p.Leu641=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001493870] Chr3:50374798 [GRCh38]
Chr3:50412229 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2542T>A (p.Phe848Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001945048] Chr3:50366878 [GRCh38]
Chr3:50404309 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2657T>C (p.Ile886Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001348723] Chr3:50366319 [GRCh38]
Chr3:50403750 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.224G>A (p.Arg75Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000229427]|not provided [RCV000710067]|not specified [RCV000202925] Chr3:50476182 [GRCh38]
Chr3:50513613 [GRCh37]
Chr3:3p21.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006030.4(CACNA2D2):c.2144-10C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000547460] Chr3:50367912 [GRCh38]
Chr3:50405343 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3 copy number gain Breast ductal adenocarcinoma [RCV000207033] Chr3:50273827..50403519 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001082741]|not provided [RCV000710363]|not specified [RCV001818620] Chr3:50364705 [GRCh38]
Chr3:50402136 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.115G>A (p.Gly39Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000231582]|Inborn genetic diseases [RCV003258711] Chr3:50503309 [GRCh38]
Chr3:50540740 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.3286G>A (p.Ala1096Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000226674]|Inborn genetic diseases [RCV002518344] Chr3:50364893 [GRCh38]
Chr3:50402324 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2801A>G (p.Gln934Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000233333]|Inborn genetic diseases [RCV002518343] Chr3:50366072 [GRCh38]
Chr3:50403503 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu) single nucleotide variant CACNA2D2-related condition [RCV003919965]|Cerebellar atrophy with seizures and variable developmental delay [RCV002055006]|Early infantile epileptic encephalopathy with suppression bursts [RCV001085706]|not provided [RCV000233513] Chr3:50364700 [GRCh38]
Chr3:50402131 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1746G>A (p.Ala582=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000226509] Chr3:50375990 [GRCh38]
Chr3:50413421 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.896G>A (p.Ser299Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000227371] Chr3:50379822 [GRCh38]
Chr3:50417253 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) single nucleotide variant CACNA2D2-related condition [RCV003920001]|Cerebellar atrophy with seizures and variable developmental delay [RCV001291701]|Early infantile epileptic encephalopathy with suppression bursts [RCV000464301]|not provided [RCV001640391]|not specified [RCV000238707] Chr3:50503264 [GRCh38]
Chr3:50540695 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_006030.4(CACNA2D2):c.1614C>T (p.Thr538=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000545579] Chr3:50377479 [GRCh38]
Chr3:50414910 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.247G>A (p.Gly83Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000526432] Chr3:50476159 [GRCh38]
Chr3:50513590 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1713C>G (p.Phe571Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001367576] Chr3:50376023 [GRCh38]
Chr3:50413454 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1552-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000532961] Chr3:50377548 [GRCh38]
Chr3:50414979 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000531422]|not provided [RCV000490174]|not specified [RCV003488630] Chr3:50365080 [GRCh38]
Chr3:50402511 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2221C>T (p.Gln741Ter) single nucleotide variant not provided [RCV000584883] Chr3:50367825 [GRCh38]
Chr3:50405256 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2777C>T (p.Thr926Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000530790] Chr3:50366096 [GRCh38]
Chr3:50403527 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3116G>A (p.Arg1039Lys) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002476129]|Early infantile epileptic encephalopathy with suppression bursts [RCV000555391]|Inborn genetic diseases [RCV002527746] Chr3:50365167 [GRCh38]
Chr3:50402598 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2274C>T (p.Gly758=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000536762] Chr3:50367665 [GRCh38]
Chr3:50405096 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.715C>T (p.Arg239Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000534662] Chr3:50381064 [GRCh38]
Chr3:50418495 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2103T>C (p.Phe701=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000534997] Chr3:50368178 [GRCh38]
Chr3:50405609 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1683C>T (p.His561=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000557843]|not provided [RCV003884604] Chr3:50376132 [GRCh38]
Chr3:50413563 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2154C>T (p.Phe718=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001430433] Chr3:50367892 [GRCh38]
Chr3:50405323 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3261C>A (p.Gly1087=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394482] Chr3:50364918 [GRCh38]
Chr3:50402349 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1846-1G>A single nucleotide variant not provided [RCV000414100] Chr3:50375706 [GRCh38]
Chr3:50413137 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_006030.4(CACNA2D2):c.1437G>A (p.Glu479=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000541070] Chr3:50378050 [GRCh38]
Chr3:50415481 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1552-6T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000553690] Chr3:50377547 [GRCh38]
Chr3:50414978 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3333G>A (p.Pro1111=) single nucleotide variant CACNA2D2-related condition [RCV003915317]|Early infantile epileptic encephalopathy with suppression bursts [RCV001392562] Chr3:50364765 [GRCh38]
Chr3:50402196 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3267C>A (p.His1089Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000459398] Chr3:50364912 [GRCh38]
Chr3:50402343 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.289-8C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000474443] Chr3:50434437 [GRCh38]
Chr3:50471868 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.553A>G (p.Ser185Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000467149]|Inborn genetic diseases [RCV003168840] Chr3:50384295 [GRCh38]
Chr3:50421726 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2155C>T (p.Leu719Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000472777] Chr3:50367891 [GRCh38]
Chr3:50405322 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.289-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000467564] Chr3:50434436 [GRCh38]
Chr3:50471867 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1392A>G (p.Glu464=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000471285] Chr3:50378095 [GRCh38]
Chr3:50415526 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.21C>T (p.Thr7=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001470969] Chr3:50503403 [GRCh38]
Chr3:50540834 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3369C>T (p.Leu1123=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001080159]|not specified [RCV000710362] Chr3:50364729 [GRCh38]
Chr3:50402160 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_006030.4(CACNA2D2):c.3315C>T (p.Arg1105=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000467636] Chr3:50364783 [GRCh38]
Chr3:50402214 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-5C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000456595]|not provided [RCV003431038] Chr3:50378998 [GRCh38]
Chr3:50416429 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_006030.4(CACNA2D2):c.288+8C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000467862] Chr3:50476110 [GRCh38]
Chr3:50513541 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1389+3GA[3] microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV002525713] Chr3:50378277..50378278 [GRCh38]
Chr3:50415708..50415709 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2995C>T (p.Pro999Ser) single nucleotide variant CACNA2D2-related condition [RCV003960037]|Early infantile epileptic encephalopathy with suppression bursts [RCV000456964] Chr3:50365459 [GRCh38]
Chr3:50402890 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1908-5C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000460496]|Inborn genetic diseases [RCV003168839] Chr3:50374818 [GRCh38]
Chr3:50412249 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.271G>A (p.Val91Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000460734] Chr3:50476135 [GRCh38]
Chr3:50513566 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.200dup (p.His68fs) duplication not provided [RCV000484602] Chr3:50503223..50503224 [GRCh38]
Chr3:50540654..50540655 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.669T>C (p.Asn223=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001082872]|not provided [RCV003437224]|not specified [RCV000710364] Chr3:50381110 [GRCh38]
Chr3:50418541 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_006030.4(CACNA2D2):c.133_138dup (p.Trp45_Leu46dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000468708]|not provided [RCV001764435] Chr3:50503285..50503286 [GRCh38]
Chr3:50540716..50540717 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2187C>T (p.Ile729=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000457513] Chr3:50367859 [GRCh38]
Chr3:50405290 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000465189] Chr3:50387592..50387593 [GRCh38]
Chr3:50425023..50425024 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2599A>C (p.Asn867His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000461595] Chr3:50366616 [GRCh38]
Chr3:50404047 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.945C>T (p.Cys315=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000472718] Chr3:50379773 [GRCh38]
Chr3:50417204 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.2721C>T (p.Phe907=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001434869] Chr3:50366152 [GRCh38]
Chr3:50403583 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.284G>A (p.Arg95His) single nucleotide variant CACNA2D2-related condition [RCV003942568]|Early infantile epileptic encephalopathy with suppression bursts [RCV000458042] Chr3:50476122 [GRCh38]
Chr3:50513553 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2590-15CT[2] microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001521088] Chr3:50366635..50366636 [GRCh38]
Chr3:50404066..50404067 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2028C>T (p.His676=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000476913] Chr3:50370337 [GRCh38]
Chr3:50407768 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3349G>A (p.Val1117Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000462147]|not provided [RCV001643185]|not specified [RCV000518721] Chr3:50364749 [GRCh38]
Chr3:50402180 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.364G>T (p.Asp122Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000473332] Chr3:50434354 [GRCh38]
Chr3:50471785 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3209-4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000477086] Chr3:50364974 [GRCh38]
Chr3:50402405 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1227C>T (p.Asp409=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001079919]|not provided [RCV000710358] Chr3:50379125 [GRCh38]
Chr3:50416556 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1833G>A (p.Lys611=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001085075]|not provided [RCV000710360] Chr3:50375821 [GRCh38]
Chr3:50413252 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_006030.4(CACNA2D2):c.3035A>G (p.Gln1012Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000466308]|Inborn genetic diseases [RCV002526437] Chr3:50365419 [GRCh38]
Chr3:50402850 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000477553]|Inborn genetic diseases [RCV002525593]|not provided [RCV001814158] Chr3:50364696 [GRCh38]
Chr3:50402127 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1365C>T (p.Ile455=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000869002]|not provided [RCV003431049]|not specified [RCV000501195] Chr3:50378308 [GRCh38]
Chr3:50415739 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.270C>T (p.Gly90=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000554479] Chr3:50476136 [GRCh38]
Chr3:50513567 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.445C>T (p.Arg149Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636360]|Inborn genetic diseases [RCV002529850] Chr3:50394129 [GRCh38]
Chr3:50431560 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2425G>A (p.Glu809Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636361] Chr3:50367086 [GRCh38]
Chr3:50404517 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3158C>T (p.Pro1053Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636393] Chr3:50365125 [GRCh38]
Chr3:50402556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1200G>A (p.Thr400=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636404]|not provided [RCV001091092] Chr3:50379152 [GRCh38]
Chr3:50416583 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.842+6C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636410] Chr3:50380742 [GRCh38]
Chr3:50418173 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.120C>T (p.Pro40=) single nucleotide variant CACNA2D2-related condition [RCV003918018]|Early infantile epileptic encephalopathy with suppression bursts [RCV000636501] Chr3:50503304 [GRCh38]
Chr3:50540735 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.909C>T (p.Ser303=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636527] Chr3:50379809 [GRCh38]
Chr3:50417240 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.653-8C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636544] Chr3:50381134 [GRCh38]
Chr3:50418565 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1907+7G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636546] Chr3:50375637 [GRCh38]
Chr3:50413068 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.972T>C (p.Asp324=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636547] Chr3:50379746 [GRCh38]
Chr3:50417177 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.750C>T (p.Phe250=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636548] Chr3:50381029 [GRCh38]
Chr3:50418460 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1281C>G (p.Ser427=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636558] Chr3:50378973 [GRCh38]
Chr3:50416404 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.243C>T (p.Val81=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636566] Chr3:50476163 [GRCh38]
Chr3:50513594 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3208+10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636596] Chr3:50365065 [GRCh38]
Chr3:50402496 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.528G>A (p.Glu176=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000533466] Chr3:50384320 [GRCh38]
Chr3:50421751 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2638-7C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000542018] Chr3:50366345 [GRCh38]
Chr3:50403776 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.652+10C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000558621] Chr3:50384186 [GRCh38]
Chr3:50421617 [GRCh37]
Chr3:3p21.31		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006030.4(CACNA2D2):c.3099G>A (p.Arg1033=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636261]|not provided [RCV003117444] Chr3:50365184 [GRCh38]
Chr3:50402615 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1267G>A (p.Val423Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636296] Chr3:50378987 [GRCh38]
Chr3:50416418 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.842+6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636305]|Inborn genetic diseases [RCV002528884] Chr3:50380742 [GRCh38]
Chr3:50418173 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1823C>T (p.Thr608Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636335] Chr3:50375831 [GRCh38]
Chr3:50413262 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.466-4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000556560] Chr3:50387616 [GRCh38]
Chr3:50425047 [GRCh37]
Chr3:3p21.31		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006030.4(CACNA2D2):c.1340-10T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000533326] Chr3:50378343 [GRCh38]
Chr3:50415774 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3004C>A (p.Arg1002Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000538657] Chr3:50365450 [GRCh38]
Chr3:50402881 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2045+10G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000558907] Chr3:50370310 [GRCh38]
Chr3:50407741 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1217G>A (p.Arg406His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000540272] Chr3:50379135 [GRCh38]
Chr3:50416566 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1942T>A (p.Tyr648Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636348] Chr3:50374779 [GRCh38]
Chr3:50412210 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.458A>G (p.Asn153Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636362] Chr3:50394116 [GRCh38]
Chr3:50431547 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1847G>A (p.Arg616Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636378] Chr3:50375704 [GRCh38]
Chr3:50413135 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.782C>T (p.Pro261Leu) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV000789004]|Early infantile epileptic encephalopathy with suppression bursts [RCV000636384]|Inborn genetic diseases [RCV002529851] Chr3:50380997 [GRCh38]
Chr3:50418428 [GRCh37]
Chr3:3p21.31		 pathogenic|uncertain significance
NM_006030.4(CACNA2D2):c.716G>A (p.Arg239His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636399] Chr3:50381063 [GRCh38]
Chr3:50418494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3225G>A (p.Gln1075=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636448] Chr3:50364954 [GRCh38]
Chr3:50402385 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.306G>C (p.Arg102=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636454] Chr3:50434412 [GRCh38]
Chr3:50471843 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3183C>T (p.Gly1061=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636485] Chr3:50365100 [GRCh38]
Chr3:50402531 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1698C>A (p.Pro566=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636473] Chr3:50376117 [GRCh38]
Chr3:50413548 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.315C>T (p.Phe105=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636487] Chr3:50434403 [GRCh38]
Chr3:50471834 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.652+8_652+9del microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000636583] Chr3:50384187..50384188 [GRCh38]
Chr3:50421618..50421619 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.600G>A (p.Lys200=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001410753] Chr3:50384248 [GRCh38]
Chr3:50421679 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3099-8G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636618] Chr3:50365192 [GRCh38]
Chr3:50402623 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3291+10G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001511073]|not provided [RCV000710361] Chr3:50364878 [GRCh38]
Chr3:50402309 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.146C>T (p.Pro49Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000684917] Chr3:50503278 [GRCh38]
Chr3:50540709 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.250G>A (p.Val84Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000698035] Chr3:50476156 [GRCh38]
Chr3:50513587 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1945C>T (p.Leu649Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000698239]|Inborn genetic diseases [RCV002534350] Chr3:50374776 [GRCh38]
Chr3:50412207 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:50435928-50732729)x3 copy number gain not provided [RCV000682257] Chr3:50435928..50732729 [GRCh37]
Chr3:3p21.31-21.2		 uncertain significance
NM_006030.4(CACNA2D2):c.1525A>G (p.Thr509Ala) single nucleotide variant Inborn genetic diseases [RCV003303201]|not provided [RCV000710359] Chr3:50377758 [GRCh38]
Chr3:50415189 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.478G>A (p.Val160Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000688567]|Inborn genetic diseases [RCV002547127] Chr3:50387600 [GRCh38]
Chr3:50425031 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.998A>G (p.Asn333Ser) single nucleotide variant not provided [RCV000710365] Chr3:50379586 [GRCh38]
Chr3:50417017 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2831A>C (p.Asn944Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000701429] Chr3:50366042 [GRCh38]
Chr3:50403473 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2257G>A (p.Ala753Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000692631] Chr3:50367682 [GRCh38]
Chr3:50405113 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1607G>A (p.Arg536Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000692941] Chr3:50377486 [GRCh38]
Chr3:50414917 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1672G>A (p.Val558Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000707659] Chr3:50376143 [GRCh38]
Chr3:50413574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.256C>T (p.Arg86Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000693686] Chr3:50476150 [GRCh38]
Chr3:50513581 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1956_1960del (p.Asn652fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000691480] Chr3:50374761..50374765 [GRCh38]
Chr3:50412192..50412196 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2611G>C (p.Glu871Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000703097] Chr3:50366604 [GRCh38]
Chr3:50404035 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2297+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000685004] Chr3:50367639 [GRCh38]
Chr3:50405070 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1534G>A (p.Gly512Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000691884] Chr3:50377749 [GRCh38]
Chr3:50415180 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-6C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000694239]|Inborn genetic diseases [RCV002532256] Chr3:50374819 [GRCh38]
Chr3:50412250 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.516_527del (p.Asp172_Ser175del) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000689105] Chr3:50384321..50384332 [GRCh38]
Chr3:50421752..50421763 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2969C>T (p.Ala990Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000703590] Chr3:50365635 [GRCh38]
Chr3:50403066 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3388C>A (p.Arg1130=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000700465] Chr3:50364710 [GRCh38]
Chr3:50402141 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2633A>G (p.Asn878Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000692433] Chr3:50366582 [GRCh38]
Chr3:50404013 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2593G>A (p.Gly865Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000706882] Chr3:50366622 [GRCh38]
Chr3:50404053 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2845C>T (p.Pro949Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000704441] Chr3:50366028 [GRCh38]
Chr3:50403459 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.934A>T (p.Thr312Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000688785] Chr3:50379784 [GRCh38]
Chr3:50417215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.757G>A (p.Ala253Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000691274] Chr3:50381022 [GRCh38]
Chr3:50418453 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2429A>G (p.Asn810Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000703405]|Inborn genetic diseases [RCV003372825] Chr3:50367082 [GRCh38]
Chr3:50404513 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002280138]|Early infantile epileptic encephalopathy with suppression bursts [RCV000701245] Chr3:50377538 [GRCh38]
Chr3:50414969 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_006030.4(CACNA2D2):c.1479+7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000692028] Chr3:50378001 [GRCh38]
Chr3:50415432 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006030.4(CACNA2D2):c.2062C>T (p.Leu688=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000937795] Chr3:50368219 [GRCh38]
Chr3:50405650 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3384G>A (p.Pro1128=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002539106] Chr3:50364714 [GRCh38]
Chr3:50402145 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.423A>G (p.Ala141=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001464533] Chr3:50394151 [GRCh38]
Chr3:50431582 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.784+10A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001455631] Chr3:50380985 [GRCh38]
Chr3:50418416 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1389+73T>G single nucleotide variant not provided [RCV001708323] Chr3:50378211 [GRCh38]
Chr3:50415642 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.-62GCC[5] microsatellite not provided [RCV001535220] Chr3:50503465..50503470 [GRCh38]
Chr3:50540896..50540901 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2793T>C (p.Tyr931=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394497] Chr3:50366080 [GRCh38]
Chr3:50403511 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3216C>T (p.Gly1072=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000978987] Chr3:50364963 [GRCh38]
Chr3:50402394 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1023C>A (p.Cys341Ter) single nucleotide variant not provided [RCV000760939] Chr3:50379561 [GRCh38]
Chr3:50416992 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.227G>A (p.Arg76His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001064917] Chr3:50476179 [GRCh38]
Chr3:50513610 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.249C>T (p.Gly83=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001066583] Chr3:50476157 [GRCh38]
Chr3:50513588 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.3242G>C (p.Arg1081Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001045415] Chr3:50364937 [GRCh38]
Chr3:50402368 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1674G>A (p.Val558=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000950330] Chr3:50376141 [GRCh38]
Chr3:50413572 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2910C>T (p.Ala970=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000942961] Chr3:50365815 [GRCh38]
Chr3:50403246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1302C>T (p.Asp434=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466150] Chr3:50378952 [GRCh38]
Chr3:50416383 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.822C>T (p.Tyr274=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002064615] Chr3:50380768 [GRCh38]
Chr3:50418199 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2029G>A (p.Val677Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000866794] Chr3:50370336 [GRCh38]
Chr3:50407767 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3060C>T (p.Ala1020=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000921931] Chr3:50365394 [GRCh38]
Chr3:50402825 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2922G>A (p.Leu974=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000921718] Chr3:50365682 [GRCh38]
Chr3:50403113 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2709+9C>T single nucleotide variant not provided [RCV000976181] Chr3:50366258 [GRCh38]
Chr3:50403689 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.63C>T (p.Pro21=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001504443] Chr3:50503361 [GRCh38]
Chr3:50540792 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.519T>G (p.Pro173=) single nucleotide variant not provided [RCV000922328] Chr3:50384329 [GRCh38]
Chr3:50421760 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.90C>T (p.Gly30=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001422996] Chr3:50503334 [GRCh38]
Chr3:50540765 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.733C>T (p.Leu245=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001405900] Chr3:50381046 [GRCh38]
Chr3:50418477 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2190G>A (p.Thr730=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001395367] Chr3:50367856 [GRCh38]
Chr3:50405287 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1212G>A (p.Glu404=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466594] Chr3:50379140 [GRCh38]
Chr3:50416571 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1620C>T (p.Asn540=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001518398]|not specified [RCV003235424] Chr3:50377473 [GRCh38]
Chr3:50414904 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_006030.4(CACNA2D2):c.3261C>T (p.Gly1087=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001407692]|not provided [RCV003457866] Chr3:50364918 [GRCh38]
Chr3:50402349 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1461C>T (p.Asn487=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000924941] Chr3:50378026 [GRCh38]
Chr3:50415457 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.573C>G (p.Phe191Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001040460] Chr3:50384275 [GRCh38]
Chr3:50421706 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1845+1G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001051523] Chr3:50375808 [GRCh38]
Chr3:50413239 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.3167G>C (p.Ser1056Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001055802] Chr3:50365116 [GRCh38]
Chr3:50402547 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1588G>A (p.Ala530Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001061716] Chr3:50377505 [GRCh38]
Chr3:50414936 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1913G>T (p.Gly638Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001039397] Chr3:50374808 [GRCh38]
Chr3:50412239 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.308A>G (p.Asn103Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001046980] Chr3:50434410 [GRCh38]
Chr3:50471841 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_006030.4(CACNA2D2):c.1783A>T (p.Ser595Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001059351] Chr3:50375871 [GRCh38]
Chr3:50413302 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1159A>G (p.Ile387Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001059759] Chr3:50379193 [GRCh38]
Chr3:50416624 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=) single nucleotide variant CACNA2D2-related condition [RCV003975313]|Cerebellar atrophy with seizures and variable developmental delay [RCV003224431]|Early infantile epileptic encephalopathy with suppression bursts [RCV001438580] Chr3:50380000 [GRCh38]
Chr3:50417431 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.3314G>A (p.Arg1105His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001072094] Chr3:50364784 [GRCh38]
Chr3:50402215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1877C>T (p.Thr626Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001039631] Chr3:50375674 [GRCh38]
Chr3:50413105 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2480G>A (p.Arg827Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001048767] Chr3:50367031 [GRCh38]
Chr3:50404462 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.223C>T (p.Arg75Trp) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003145340]|Early infantile epileptic encephalopathy with suppression bursts [RCV001070593]|not provided [RCV001508148] Chr3:50476183 [GRCh38]
Chr3:50513614 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2925C>A (p.Phe975Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001039997]|Inborn genetic diseases [RCV003243413] Chr3:50365679 [GRCh38]
Chr3:50403110 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3099-9dup duplication Cerebellar atrophy with seizures and variable developmental delay [RCV003224430]|Early infantile epileptic encephalopathy with suppression bursts [RCV001438028] Chr3:50365192..50365193 [GRCh38]
Chr3:50402623..50402624 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.502G>A (p.Ala168Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000792065] Chr3:50387576 [GRCh38]
Chr3:50425007 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.851dup (p.Ala286fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000809161] Chr3:50380009..50380010 [GRCh38]
Chr3:50417440..50417441 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.513C>T (p.Asp171=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001409863] Chr3:50384335 [GRCh38]
Chr3:50421766 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3219G>C (p.Pro1073=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000863808] Chr3:50364960 [GRCh38]
Chr3:50402391 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3099-8G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000869360] Chr3:50365192 [GRCh38]
Chr3:50402623 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1662G>C (p.Leu554=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000864190]|not provided [RCV002064485] Chr3:50376153 [GRCh38]
Chr3:50413584 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1389+9T>A single nucleotide variant not provided [RCV000983026] Chr3:50378275 [GRCh38]
Chr3:50415706 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3321C>T (p.Ala1107=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000865827] Chr3:50364777 [GRCh38]
Chr3:50402208 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-4T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000932284] Chr3:50377807 [GRCh38]
Chr3:50415238 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-8C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394978] Chr3:50364814 [GRCh38]
Chr3:50402245 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3150C>T (p.Ala1050=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001463549] Chr3:50365133 [GRCh38]
Chr3:50402564 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2130A>G (p.Pro710=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001496281] Chr3:50368151 [GRCh38]
Chr3:50405582 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1209T>C (p.Gly403=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001429665] Chr3:50379143 [GRCh38]
Chr3:50416574 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.886G>A (p.Val296Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000812695] Chr3:50379975 [GRCh38]
Chr3:50417406 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.622G>A (p.Val208Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000817325]|Inborn genetic diseases [RCV002535445] Chr3:50384226 [GRCh38]
Chr3:50421657 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.61C>T (p.Pro21Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000814398] Chr3:50503363 [GRCh38]
Chr3:50540794 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2582C>T (p.Pro861Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000798308] Chr3:50366838 [GRCh38]
Chr3:50404269 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2831A>G (p.Asn944Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000806015] Chr3:50366042 [GRCh38]
Chr3:50403473 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2709+8T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002066455] Chr3:50366259 [GRCh38]
Chr3:50403690 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2749C>A (p.Leu917Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000811608] Chr3:50366124 [GRCh38]
Chr3:50403555 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1389+2T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000799128] Chr3:50378282 [GRCh38]
Chr3:50415713 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.2449G>A (p.Val817Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000811093] Chr3:50367062 [GRCh38]
Chr3:50404493 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3423C>A (p.Arg1141=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000871055] Chr3:50364675 [GRCh38]
Chr3:50402106 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1781G>A (p.Arg594Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000792124] Chr3:50375873 [GRCh38]
Chr3:50413304 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3218C>T (p.Pro1073Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000812436] Chr3:50364961 [GRCh38]
Chr3:50402392 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2370C>T (p.His790=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002067589]|not provided [RCV000991466] Chr3:50367425 [GRCh38]
Chr3:50404856 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3307T>A (p.Cys1103Ser) single nucleotide variant not provided [RCV000991467] Chr3:50364791 [GRCh38]
Chr3:50402222 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2600A>G (p.Asn867Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000816969] Chr3:50366615 [GRCh38]
Chr3:50404046 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.716G>T (p.Arg239Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000799098] Chr3:50381063 [GRCh38]
Chr3:50418494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.216C>A (p.His72Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000800737] Chr3:50476190 [GRCh38]
Chr3:50513621 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3386C>T (p.Pro1129Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000795599] Chr3:50364712 [GRCh38]
Chr3:50402143 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2862+3G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000822227] Chr3:50366008 [GRCh38]
Chr3:50403439 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3137T>C (p.Leu1046Pro) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV000789005] Chr3:50365146 [GRCh38]
Chr3:50402577 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2971G>A (p.Asp991Asn) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV000789006] Chr3:50365633 [GRCh38]
Chr3:50403064 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1778G>C (p.Arg593Pro) single nucleotide variant Epileptic encephalopathy [RCV000785882] Chr3:50375876 [GRCh38]
Chr3:50413307 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.1307C>T (p.Thr436Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000824202] Chr3:50378947 [GRCh38]
Chr3:50416378 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.304C>T (p.Arg102Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000802190] Chr3:50434414 [GRCh38]
Chr3:50471845 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.678C>G (p.Asn226Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000795038] Chr3:50381101 [GRCh38]
Chr3:50418532 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1551+5G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000809045] Chr3:50377727 [GRCh38]
Chr3:50415158 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.564G>C (p.Arg188Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000811988] Chr3:50384284 [GRCh38]
Chr3:50421715 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2234+1G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001378057]|not provided [RCV001091091] Chr3:50367811 [GRCh38]
Chr3:50405242 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.71G>C (p.Gly24Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000814738] Chr3:50503353 [GRCh38]
Chr3:50540784 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2656A>G (p.Ile886Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000798398] Chr3:50366320 [GRCh38]
Chr3:50403751 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.842+7G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000864180] Chr3:50380741 [GRCh38]
Chr3:50418172 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2848C>T (p.Arg950Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000795902]|Inborn genetic diseases [RCV003279071] Chr3:50366025 [GRCh38]
Chr3:50403456 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1390-9C>A single nucleotide variant CACNA2D2-related condition [RCV003928354]|Early infantile epileptic encephalopathy with suppression bursts [RCV000863437] Chr3:50378106 [GRCh38]
Chr3:50415537 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.576C>T (p.Ile192=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000942860] Chr3:50384272 [GRCh38]
Chr3:50421703 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3027A>G (p.Lys1009=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000980159] Chr3:50365427 [GRCh38]
Chr3:50402858 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.119C>G (p.Pro40Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000819143] Chr3:50503305 [GRCh38]
Chr3:50540736 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1715G>A (p.Arg572Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000802973] Chr3:50376021 [GRCh38]
Chr3:50413452 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2802G>A (p.Gln934=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000941245] Chr3:50366071 [GRCh38]
Chr3:50403502 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1795G>A (p.Gly599Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000817050] Chr3:50375859 [GRCh38]
Chr3:50413290 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1665C>T (p.Asn555=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000872279] Chr3:50376150 [GRCh38]
Chr3:50413581 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2694C>A (p.Asn898Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000809753] Chr3:50366282 [GRCh38]
Chr3:50403713 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.999C>T (p.Asn333=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001419245] Chr3:50379585 [GRCh38]
Chr3:50417016 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3079G>T (p.Asp1027Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001043549] Chr3:50365375 [GRCh38]
Chr3:50402806 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.577G>A (p.Glu193Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001044791] Chr3:50384271 [GRCh38]
Chr3:50421702 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.432C>G (p.Phe144Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001230823]|Inborn genetic diseases [RCV002563190] Chr3:50394142 [GRCh38]
Chr3:50431573 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.257G>A (p.Arg86Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001219688] Chr3:50476149 [GRCh38]
Chr3:50513580 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.525T>G (p.Ser175Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001215929] Chr3:50384323 [GRCh38]
Chr3:50421754 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2483G>A (p.Arg828His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001214217] Chr3:50367028 [GRCh38]
Chr3:50404459 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1192A>T (p.Met398Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001220656] Chr3:50379160 [GRCh38]
Chr3:50416591 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.23G>C (p.Cys8Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001223209] Chr3:50503401 [GRCh38]
Chr3:50540832 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.50G>T (p.Arg17Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001241229] Chr3:50503374 [GRCh38]
Chr3:50540805 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2351G>A (p.Arg784His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001221161]|Inborn genetic diseases [RCV003294060] Chr3:50367444 [GRCh38]
Chr3:50404875 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.880ATC[1] (p.Ile295del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001227221] Chr3:50379976..50379978 [GRCh38]
Chr3:50417407..50417409 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.510G>T (p.Leu170=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001225437] Chr3:50387568 [GRCh38]
Chr3:50424999 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.783G>A (p.Pro261=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001219048] Chr3:50380996 [GRCh38]
Chr3:50418427 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2218G>A (p.Asp740Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001248315] Chr3:50367828 [GRCh38]
Chr3:50405259 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2113A>T (p.Met705Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001226272] Chr3:50368168 [GRCh38]
Chr3:50405599 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.616G>A (p.Ala206Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001211256] Chr3:50384232 [GRCh38]
Chr3:50421663 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-55G>A single nucleotide variant not provided [RCV001641471] Chr3:50374868 [GRCh38]
Chr3:50412299 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.510+10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003106377] Chr3:50387558 [GRCh38]
Chr3:50424989 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.510+39C>T single nucleotide variant not provided [RCV001639885] Chr3:50387529 [GRCh38]
Chr3:50424960 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1773+20_1773+21del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002072924]|not provided [RCV001621012] Chr3:50375942..50375943 [GRCh38]
Chr3:50413373..50413374 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2743C>T (p.Leu915=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000983436] Chr3:50366130 [GRCh38]
Chr3:50403561 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3072C>T (p.Ala1024=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001439963] Chr3:50365382 [GRCh38]
Chr3:50402813 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001505448] Chr3:50377809 [GRCh38]
Chr3:50415240 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.696G>A (p.Glu232=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001500578] Chr3:50381083 [GRCh38]
Chr3:50418514 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.406-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000862019]|not specified [RCV001816938] Chr3:50394175 [GRCh38]
Chr3:50431606 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1907+8A>T single nucleotide variant not provided [RCV000980858] Chr3:50375636 [GRCh38]
Chr3:50413067 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3209-6G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000977945] Chr3:50364976 [GRCh38]
Chr3:50402407 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.30C>A (p.Ala10=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001443133] Chr3:50503394 [GRCh38]
Chr3:50540825 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1245T>C (p.Asn415=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000868074] Chr3:50379107 [GRCh38]
Chr3:50416538 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.12G>C (p.Pro4=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474660] Chr3:50503412 [GRCh38]
Chr3:50540843 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2340C>T (p.Ala780=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001404708] Chr3:50367455 [GRCh38]
Chr3:50404886 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.477C>T (p.Ile159=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001432292] Chr3:50387601 [GRCh38]
Chr3:50425032 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2916-6C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001238654] Chr3:50365694 [GRCh38]
Chr3:50403125 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.3100C>G (p.Leu1034Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001235698] Chr3:50365183 [GRCh38]
Chr3:50402614 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2164A>G (p.Asn722Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001235758] Chr3:50367882 [GRCh38]
Chr3:50405313 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.814G>A (p.Asp272Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001244798] Chr3:50380776 [GRCh38]
Chr3:50418207 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2207G>A (p.Arg736His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001236680] Chr3:50367839 [GRCh38]
Chr3:50405270 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1619A>G (p.Asn540Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001036956] Chr3:50377474 [GRCh38]
Chr3:50414905 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1215C>G (p.Asp405Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001227548] Chr3:50379137 [GRCh38]
Chr3:50416568 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.124C>T (p.Arg42Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001202798] Chr3:50503300 [GRCh38]
Chr3:50540731 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.842+1G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001220876] Chr3:50380747 [GRCh38]
Chr3:50418178 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.2476G>C (p.Gly826Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001240825] Chr3:50367035 [GRCh38]
Chr3:50404466 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.208A>G (p.Met70Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001227612] Chr3:50476198 [GRCh38]
Chr3:50513629 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1249C>G (p.Pro417Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001210293] Chr3:50379103 [GRCh38]
Chr3:50416534 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2870T>C (p.Val957Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001228023] Chr3:50365855 [GRCh38]
Chr3:50403286 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.446G>A (p.Arg149His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001066107]|Inborn genetic diseases [RCV002553984] Chr3:50394128 [GRCh38]
Chr3:50431559 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1907+130T>C single nucleotide variant not provided [RCV001688002] Chr3:50375514 [GRCh38]
Chr3:50412945 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.510+185T>C single nucleotide variant not provided [RCV001677507] Chr3:50387383 [GRCh38]
Chr3:50424814 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1153-94G>T single nucleotide variant not provided [RCV001659341] Chr3:50379293 [GRCh38]
Chr3:50416724 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.207-201G>A single nucleotide variant not provided [RCV001651840] Chr3:50476400 [GRCh38]
Chr3:50513831 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.466-134G>T single nucleotide variant not provided [RCV001676745] Chr3:50387746 [GRCh38]
Chr3:50425177 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.-169G>A single nucleotide variant not provided [RCV001635879] Chr3:50503592 [GRCh38]
Chr3:50541023 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.405+114G>A single nucleotide variant not provided [RCV001677326] Chr3:50434199 [GRCh38]
Chr3:50471630 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2971+6T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001048816] Chr3:50365627 [GRCh38]
Chr3:50403058 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1604A>G (p.Lys535Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001049576] Chr3:50377489 [GRCh38]
Chr3:50414920 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2924T>C (p.Phe975Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001044391] Chr3:50365680 [GRCh38]
Chr3:50403111 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-5C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001067245] Chr3:50374818 [GRCh38]
Chr3:50412249 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1051C>T (p.Arg351Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001047604] Chr3:50379533 [GRCh38]
Chr3:50416964 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3137_3138delinsAA (p.Leu1046Gln) indel Early infantile epileptic encephalopathy with suppression bursts [RCV001228627] Chr3:50365145..50365146 [GRCh38]
Chr3:50402576..50402577 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1103C>T (p.Thr368Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001049120] Chr3:50379481 [GRCh38]
Chr3:50416912 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1052G>A (p.Arg351His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001068770]|Inborn genetic diseases [RCV002554553] Chr3:50379532 [GRCh38]
Chr3:50416963 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.289-6424G>A single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV001542362] Chr3:50440853 [GRCh38]
Chr3:50478284 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1984+1844A>G single nucleotide variant not provided [RCV001680977] Chr3:50372893 [GRCh38]
Chr3:50410324 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.3061T>G (p.Ser1021Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001045441]|Inborn genetic diseases [RCV003353125] Chr3:50365393 [GRCh38]
Chr3:50402824 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1513G>A (p.Val505Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001067352] Chr3:50377770 [GRCh38]
Chr3:50415201 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3212A>G (p.Asp1071Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001206108] Chr3:50364967 [GRCh38]
Chr3:50402398 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1585G>A (p.Val529Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001041534] Chr3:50377508 [GRCh38]
Chr3:50414939 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3147G>A (p.Val1049=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001049508] Chr3:50365136 [GRCh38]
Chr3:50402567 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.930G>A (p.Met310Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001205078] Chr3:50379788 [GRCh38]
Chr3:50417219 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1552-3C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001060708] Chr3:50377544 [GRCh38]
Chr3:50414975 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2095A>G (p.Lys699Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001219900] Chr3:50368186 [GRCh38]
Chr3:50405617 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1152+3G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001042650] Chr3:50379429 [GRCh38]
Chr3:50416860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2336A>T (p.Asn779Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001057346] Chr3:50367459 [GRCh38]
Chr3:50404890 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1672G>T (p.Val558Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001205452] Chr3:50376143 [GRCh38]
Chr3:50413574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1726A>G (p.Thr576Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001051050] Chr3:50376010 [GRCh38]
Chr3:50413441 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1573A>G (p.Met525Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001205705] Chr3:50377520 [GRCh38]
Chr3:50414951 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.413C>T (p.Ala138Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001054057] Chr3:50394161 [GRCh38]
Chr3:50431592 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1325C>A (p.Ala442Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001039915] Chr3:50378929 [GRCh38]
Chr3:50416360 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.118C>T (p.Pro40Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001047526] Chr3:50503306 [GRCh38]
Chr3:50540737 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2081A>C (p.Asn694Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001037321] Chr3:50368200 [GRCh38]
Chr3:50405631 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.119C>T (p.Pro40Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001058381] Chr3:50503305 [GRCh38]
Chr3:50540736 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1637A>G (p.Asn546Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001218051] Chr3:50376178 [GRCh38]
Chr3:50413609 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1526C>A (p.Thr509Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001054692] Chr3:50377757 [GRCh38]
Chr3:50415188 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1745C>T (p.Ala582Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001204445]|Inborn genetic diseases [RCV002561157] Chr3:50375991 [GRCh38]
Chr3:50413422 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3194A>T (p.Gln1065Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001236558] Chr3:50365089 [GRCh38]
Chr3:50402520 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3409_3425del (p.Val1137fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001064089] Chr3:50364673..50364689 [GRCh38]
Chr3:50402104..50402120 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1411A>G (p.Arg471Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001064487] Chr3:50378076 [GRCh38]
Chr3:50415507 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.593A>G (p.Lys198Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001054706] Chr3:50384255 [GRCh38]
Chr3:50421686 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.700G>A (p.Val234Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001201821] Chr3:50381079 [GRCh38]
Chr3:50418510 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3332C>T (p.Pro1111Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001245758] Chr3:50364766 [GRCh38]
Chr3:50402197 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.215A>G (p.His72Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001203675] Chr3:50476191 [GRCh38]
Chr3:50513622 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.288+3G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001041705] Chr3:50476115 [GRCh38]
Chr3:50513546 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2216G>A (p.Arg739Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001062761]|Inborn genetic diseases [RCV002555814] Chr3:50367830 [GRCh38]
Chr3:50405261 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1153-8C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001070009] Chr3:50379207 [GRCh38]
Chr3:50416638 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2390C>G (p.Pro797Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001056859] Chr3:50367405 [GRCh38]
Chr3:50404836 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1462G>A (p.Val488Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001063108] Chr3:50378025 [GRCh38]
Chr3:50415456 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 copy number loss not provided [RCV001259686] Chr3:48807193..51363558 [GRCh37]
Chr3:3p21.31-21.2		 pathogenic
NM_006030.4(CACNA2D2):c.2972-12G>A single nucleotide variant not provided [RCV002280252] Chr3:50365494 [GRCh38]
Chr3:50402925 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.299A>G (p.Asp100Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001257215]|Inborn genetic diseases [RCV003166586] Chr3:50434419 [GRCh38]
Chr3:50471850 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.391G>A (p.Val131Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002069351]|Seizure [RCV001255019] Chr3:50434327 [GRCh38]
Chr3:50471758 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1709A>C (p.Asn570Thr) single nucleotide variant Inborn genetic diseases [RCV001267051] Chr3:50376027 [GRCh38]
Chr3:50413458 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2852G>T (p.Gly951Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001295711] Chr3:50366021 [GRCh38]
Chr3:50403452 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.658G>A (p.Val220Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001317082] Chr3:50381121 [GRCh38]
Chr3:50418552 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3287C>T (p.Ala1096Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001339215]|Inborn genetic diseases [RCV002546864] Chr3:50364892 [GRCh38]
Chr3:50402323 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2509G>A (p.Val837Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001319855] Chr3:50366911 [GRCh38]
Chr3:50404342 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.260T>G (p.Ile87Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001301306] Chr3:50476146 [GRCh38]
Chr3:50513577 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1907+3A>C single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV001330190]|Early infantile epileptic encephalopathy with suppression bursts [RCV001368306] Chr3:50375641 [GRCh38]
Chr3:50413072 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2336A>G (p.Asn779Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001296283] Chr3:50367459 [GRCh38]
Chr3:50404890 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3009G>C (p.Glu1003Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001340462]|Inborn genetic diseases [RCV002546899] Chr3:50365445 [GRCh38]
Chr3:50402876 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1046A>G (p.Asn349Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001318639] Chr3:50379538 [GRCh38]
Chr3:50416969 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2881C>G (p.Leu961Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001307054] Chr3:50365844 [GRCh38]
Chr3:50403275 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2589+5T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001309212] Chr3:50366826 [GRCh38]
Chr3:50404257 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2318A>C (p.Glu773Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001304539] Chr3:50367477 [GRCh38]
Chr3:50404908 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.971A>G (p.Asp324Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001296688] Chr3:50379747 [GRCh38]
Chr3:50417178 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2710-5C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001315733] Chr3:50366168 [GRCh38]
Chr3:50403599 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.97_103dup (p.Arg35fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001383058] Chr3:50503320..50503321 [GRCh38]
Chr3:50540751..50540752 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2562C>A (p.Asn854Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001337935] Chr3:50366858 [GRCh38]
Chr3:50404289 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1400A>G (p.Asp467Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001295850]|Inborn genetic diseases [RCV002543040] Chr3:50378087 [GRCh38]
Chr3:50415518 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1000G>A (p.Glu334Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001296063] Chr3:50379584 [GRCh38]
Chr3:50417015 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3421_3430del (p.Arg1141fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001368473] Chr3:50364668..50364677 [GRCh38]
Chr3:50402099..50402108 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.259A>G (p.Ile87Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001298080]|Inborn genetic diseases [RCV002543065] Chr3:50476147 [GRCh38]
Chr3:50513578 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1937C>A (p.Thr646Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001370473] Chr3:50374784 [GRCh38]
Chr3:50412215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1837C>T (p.Leu613=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001397244] Chr3:50375817 [GRCh38]
Chr3:50413248 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.115G>C (p.Gly39Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001359766] Chr3:50503309 [GRCh38]
Chr3:50540740 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3159G>C (p.Pro1053=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001415216] Chr3:50365124 [GRCh38]
Chr3:50402555 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1702-5A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001397444] Chr3:50376039 [GRCh38]
Chr3:50413470 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3424C>T (p.Arg1142Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001369558] Chr3:50364674 [GRCh38]
Chr3:50402105 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.244G>A (p.Asp82Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001360157] Chr3:50476162 [GRCh38]
Chr3:50513593 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2935C>T (p.Leu979Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001294517]|not specified [RCV003235540] Chr3:50365669 [GRCh38]
Chr3:50403100 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3235G>A (p.Val1079Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001294834] Chr3:50364944 [GRCh38]
Chr3:50402375 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1671C>T (p.Tyr557=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001433701] Chr3:50376144 [GRCh38]
Chr3:50413575 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.545C>T (p.Ser182Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001351566] Chr3:50384303 [GRCh38]
Chr3:50421734 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1774-7C>T single nucleotide variant CACNA2D2-related condition [RCV003900490]|Early infantile epileptic encephalopathy with suppression bursts [RCV001433994] Chr3:50375887 [GRCh38]
Chr3:50413318 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1025T>G (p.Phe342Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001307315] Chr3:50379559 [GRCh38]
Chr3:50416990 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2662G>A (p.Asp888Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001360142] Chr3:50366314 [GRCh38]
Chr3:50403745 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.62C>T (p.Pro21Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001364812] Chr3:50503362 [GRCh38]
Chr3:50540793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.438A>T (p.Lys146Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001323929] Chr3:50394136 [GRCh38]
Chr3:50431567 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2368C>G (p.His790Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001322960] Chr3:50367427 [GRCh38]
Chr3:50404858 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2905G>A (p.Ala969Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001343834] Chr3:50365820 [GRCh38]
Chr3:50403251 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2269G>A (p.Gly757Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001323038] Chr3:50367670 [GRCh38]
Chr3:50405101 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.119C>A (p.Pro40His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001309757] Chr3:50503305 [GRCh38]
Chr3:50540736 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2623G>A (p.Glu875Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344977] Chr3:50366592 [GRCh38]
Chr3:50404023 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2234C>T (p.Thr745Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001361031] Chr3:50367812 [GRCh38]
Chr3:50405243 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1189A>G (p.Met397Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001301849] Chr3:50379163 [GRCh38]
Chr3:50416594 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.563G>A (p.Arg188Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001320425] Chr3:50384285 [GRCh38]
Chr3:50421716 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.490G>A (p.Ala164Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001373987] Chr3:50387588 [GRCh38]
Chr3:50425019 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2086G>A (p.Glu696Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001360127] Chr3:50368195 [GRCh38]
Chr3:50405626 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.34C>G (p.Arg12Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001305720] Chr3:50503390 [GRCh38]
Chr3:50540821 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3311G>T (p.Gly1104Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001341031] Chr3:50364787 [GRCh38]
Chr3:50402218 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3326T>G (p.Phe1109Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344076] Chr3:50364772 [GRCh38]
Chr3:50402203 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_50431530)_(50431609_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001372359] Chr3:50431530..50431609 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2046A>G (p.Arg682=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001305773] Chr3:50368235 [GRCh38]
Chr3:50405666 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1849T>A (p.Tyr617Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344138] Chr3:50375702 [GRCh38]
Chr3:50413133 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1895G>A (p.Ser632Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001298367] Chr3:50375656 [GRCh38]
Chr3:50413087 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2486C>G (p.Thr829Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344182] Chr3:50367025 [GRCh38]
Chr3:50404456 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1438G>A (p.Ala480Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344188] Chr3:50378049 [GRCh38]
Chr3:50415480 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2792A>T (p.Tyr931Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001345190] Chr3:50366081 [GRCh38]
Chr3:50403512 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1265G>A (p.Arg422His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001361655] Chr3:50378989 [GRCh38]
Chr3:50416420 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1580T>C (p.Ile527Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001317931] Chr3:50377513 [GRCh38]
Chr3:50414944 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2507G>A (p.Gly836Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001322479]|not provided [RCV001751623] Chr3:50366913 [GRCh38]
Chr3:50404344 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2033T>C (p.Phe678Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001317288] Chr3:50370332 [GRCh38]
Chr3:50407763 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.893+6T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001321162] Chr3:50379962 [GRCh38]
Chr3:50417393 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1714C>T (p.Arg572Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001348030]|Inborn genetic diseases [RCV003365351] Chr3:50376022 [GRCh38]
Chr3:50413453 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1780C>T (p.Arg594Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001363724] Chr3:50375874 [GRCh38]
Chr3:50413305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2836G>A (p.Gly946Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001363773] Chr3:50366037 [GRCh38]
Chr3:50403468 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.586A>G (p.Asn196Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001317413] Chr3:50384262 [GRCh38]
Chr3:50421693 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.541G>T (p.Gly181Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001298891]|Inborn genetic diseases [RCV002543070] Chr3:50384307 [GRCh38]
Chr3:50421738 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2866A>G (p.Thr956Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001345571] Chr3:50365859 [GRCh38]
Chr3:50403290 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.601G>A (p.Val201Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001346272] Chr3:50384247 [GRCh38]
Chr3:50421678 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2918C>T (p.Ser973Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001295858] Chr3:50365686 [GRCh38]
Chr3:50403117 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1773G>T (p.Glu591Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001359823]|not provided [RCV001751702] Chr3:50375963 [GRCh38]
Chr3:50413394 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3218C>A (p.Pro1073Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001326381] Chr3:50364961 [GRCh38]
Chr3:50402392 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2297+3_2297+6del microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001370316] Chr3:50367636..50367639 [GRCh38]
Chr3:50405067..50405070 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.237G>A (p.Gln79=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001421716] Chr3:50476169 [GRCh38]
Chr3:50513600 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.979G>A (p.Val327Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001305050] Chr3:50379739 [GRCh38]
Chr3:50417170 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1817T>C (p.Ile606Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001324985] Chr3:50375837 [GRCh38]
Chr3:50413268 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2226T>A (p.Asp742Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001297051] Chr3:50367820 [GRCh38]
Chr3:50405251 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1811A>G (p.Lys604Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001305934] Chr3:50375843 [GRCh38]
Chr3:50413274 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-3C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001309525] Chr3:50374816 [GRCh38]
Chr3:50412247 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1346A>G (p.Tyr449Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001366968] Chr3:50378327 [GRCh38]
Chr3:50415758 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.34C>T (p.Arg12Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001316127] Chr3:50503390 [GRCh38]
Chr3:50540821 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2155C>A (p.Leu719Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001369633] Chr3:50367891 [GRCh38]
Chr3:50405322 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1764C>A (p.Asn588Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001341183] Chr3:50375972 [GRCh38]
Chr3:50413403 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1890A>G (p.Ile630Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001370069] Chr3:50375661 [GRCh38]
Chr3:50413092 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1282G>A (p.Val428Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001327099] Chr3:50378972 [GRCh38]
Chr3:50416403 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1768G>A (p.Glu590Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001371943] Chr3:50375968 [GRCh38]
Chr3:50413399 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1475C>T (p.Ala492Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001351616] Chr3:50378012 [GRCh38]
Chr3:50415443 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.994-6C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001339706] Chr3:50379596 [GRCh38]
Chr3:50417027 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.785-3C>T single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002227524]|Early infantile epileptic encephalopathy with suppression bursts [RCV001365987] Chr3:50380808 [GRCh38]
Chr3:50418239 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1643A>G (p.Tyr548Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001365993] Chr3:50376172 [GRCh38]
Chr3:50413603 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001450106] Chr3:50374819 [GRCh38]
Chr3:50412250 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2769C>T (p.Ser923=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001495790] Chr3:50366104 [GRCh38]
Chr3:50403535 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3180T>A (p.Ala1060=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001462075] Chr3:50365103 [GRCh38]
Chr3:50402534 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1794T>C (p.Asp598=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001468262] Chr3:50375860 [GRCh38]
Chr3:50413291 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2085C>T (p.Thr695=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001473639] Chr3:50368196 [GRCh38]
Chr3:50405627 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1863G>A (p.Val621=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001482251] Chr3:50375688 [GRCh38]
Chr3:50413119 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.147G>A (p.Pro49=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001487888] Chr3:50503277 [GRCh38]
Chr3:50540708 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.312G>A (p.Leu104=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001475434] Chr3:50434406 [GRCh38]
Chr3:50471837 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.39C>T (p.Pro13=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001471658] Chr3:50503385 [GRCh38]
Chr3:50540816 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.393G>A (p.Val131=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001431304] Chr3:50434325 [GRCh38]
Chr3:50471756 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1626+9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001455603] Chr3:50377458 [GRCh38]
Chr3:50414889 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2234+10A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001471752] Chr3:50367802 [GRCh38]
Chr3:50405233 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1311G>A (p.Pro437=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001492869] Chr3:50378943 [GRCh38]
Chr3:50416374 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.784+1G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001379187] Chr3:50380994 [GRCh38]
Chr3:50418425 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.489C>T (p.Asp163=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001442339] Chr3:50387589 [GRCh38]
Chr3:50425020 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3279C>T (p.Asp1093=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474417] Chr3:50364900 [GRCh38]
Chr3:50402331 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.474C>T (p.Asp158=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001475748] Chr3:50387604 [GRCh38]
Chr3:50425035 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2352C>T (p.Arg784=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001472309] Chr3:50367443 [GRCh38]
Chr3:50404874 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.879C>T (p.Val293=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001429382] Chr3:50379982 [GRCh38]
Chr3:50417413 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.813C>T (p.Ile271=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474720] Chr3:50380777 [GRCh38]
Chr3:50418208 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.510+8C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001493313] Chr3:50387560 [GRCh38]
Chr3:50424991 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1746G>T (p.Ala582=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001464169] Chr3:50375990 [GRCh38]
Chr3:50413421 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2487A>G (p.Thr829=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001442909] Chr3:50367024 [GRCh38]
Chr3:50404455 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2250C>T (p.Ala750=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001452771] Chr3:50367689 [GRCh38]
Chr3:50405120 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.756C>T (p.Ser252=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001493599] Chr3:50381023 [GRCh38]
Chr3:50418454 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2001C>T (p.Leu667=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394149] Chr3:50370364 [GRCh38]
Chr3:50407795 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3300C>T (p.Thr1100=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001418300] Chr3:50364798 [GRCh38]
Chr3:50402229 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.465+8C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001427648] Chr3:50394101 [GRCh38]
Chr3:50431532 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2433C>T (p.Asp811=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001448484] Chr3:50367078 [GRCh38]
Chr3:50404509 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2559C>T (p.Ser853=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001432417] Chr3:50366861 [GRCh38]
Chr3:50404292 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2863-14TC[2] microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001426336] Chr3:50365871..50365872 [GRCh38]
Chr3:50403302..50403303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.235dup (p.Gln79fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001387406] Chr3:50476170..50476171 [GRCh38]
Chr3:50513601..50513602 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2334C>T (p.Phe778=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001449002] Chr3:50367461 [GRCh38]
Chr3:50404892 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1824G>A (p.Thr608=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001449110] Chr3:50375830 [GRCh38]
Chr3:50413261 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2590-6del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001415530] Chr3:50366631 [GRCh38]
Chr3:50404062 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3208+9C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001400348] Chr3:50365066 [GRCh38]
Chr3:50402497 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3099-4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001447025] Chr3:50365188 [GRCh38]
Chr3:50402619 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2709+9C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001423611] Chr3:50366258 [GRCh38]
Chr3:50403689 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2256C>T (p.Phe752=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001405121] Chr3:50367683 [GRCh38]
Chr3:50405114 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.994-8T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001437002] Chr3:50379598 [GRCh38]
Chr3:50417029 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2580G>A (p.Gln860=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001399658] Chr3:50366840 [GRCh38]
Chr3:50404271 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1389+9del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001441636] Chr3:50378275 [GRCh38]
Chr3:50415706 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-9C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001426910] Chr3:50379002 [GRCh38]
Chr3:50416433 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2043C>T (p.Pro681=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001441947] Chr3:50370322 [GRCh38]
Chr3:50407753 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.501C>T (p.Asp167=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001408124] Chr3:50387577 [GRCh38]
Chr3:50425008 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001408135] Chr3:50364816 [GRCh38]
Chr3:50402247 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1809C>T (p.His603=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001399996] Chr3:50375845 [GRCh38]
Chr3:50413276 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2971+10G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001428155] Chr3:50365623 [GRCh38]
Chr3:50403054 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2415G>A (p.Pro805=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001417844] Chr3:50367096 [GRCh38]
Chr3:50404527 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1062G>A (p.Lys354=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001408411] Chr3:50379522 [GRCh38]
Chr3:50416953 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1627-6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001429748] Chr3:50376194 [GRCh38]
Chr3:50413625 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2280C>G (p.Thr760=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001442964] Chr3:50367659 [GRCh38]
Chr3:50405090 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.206_206+34del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001378899] Chr3:50503184..50503218 [GRCh38]
Chr3:50540615..50540649 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.288+9G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001427530] Chr3:50476109 [GRCh38]
Chr3:50513540 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.654C>T (p.Ser218=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001457450] Chr3:50381125 [GRCh38]
Chr3:50418556 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3187C>T (p.Leu1063=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001454814] Chr3:50365096 [GRCh38]
Chr3:50402527 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3186G>T (p.Arg1062=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001468782] Chr3:50365097 [GRCh38]
Chr3:50402528 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1605G>A (p.Lys535=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001499236] Chr3:50377488 [GRCh38]
Chr3:50414919 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+22G>A single nucleotide variant not provided [RCV001650823] Chr3:50379070 [GRCh38]
Chr3:50416501 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.3204G>T (p.Thr1068=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001455116] Chr3:50365079 [GRCh38]
Chr3:50402510 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1737C>T (p.Phe579=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001491231] Chr3:50375999 [GRCh38]
Chr3:50413430 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1962T>C (p.Ser654=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001462529] Chr3:50374759 [GRCh38]
Chr3:50412190 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1311G>T (p.Pro437=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001462899] Chr3:50378943 [GRCh38]
Chr3:50416374 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2940C>T (p.Tyr980=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001455700] Chr3:50365664 [GRCh38]
Chr3:50403095 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1899T>A (p.Thr633=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466547] Chr3:50375652 [GRCh38]
Chr3:50413083 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.663C>A (p.Ile221=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001518147]|not provided [RCV001673095] Chr3:50381116 [GRCh38]
Chr3:50418547 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1984+7dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001471760] Chr3:50374728..50374729 [GRCh38]
Chr3:50412159..50412160 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.465+130G>C single nucleotide variant not provided [RCV001696529] Chr3:50393979 [GRCh38]
Chr3:50431410 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2892C>T (p.Ala964=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001454019] Chr3:50365833 [GRCh38]
Chr3:50403264 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1377C>T (p.Arg459=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001471998] Chr3:50378296 [GRCh38]
Chr3:50415727 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.102G>A (p.Arg34=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001472678] Chr3:50503322 [GRCh38]
Chr3:50540753 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1953C>T (p.Ala651=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001428500] Chr3:50374768 [GRCh38]
Chr3:50412199 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.49C>A (p.Arg17=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001424933] Chr3:50503375 [GRCh38]
Chr3:50540806 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3345C>A (p.Val1115=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001399544] Chr3:50364753 [GRCh38]
Chr3:50402184 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.252G>A (p.Val84=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001477551] Chr3:50476154 [GRCh38]
Chr3:50513585 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.561A>G (p.Leu187=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001512874] Chr3:50384287 [GRCh38]
Chr3:50421718 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.3417C>T (p.Ala1139=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001403278] Chr3:50364681 [GRCh38]
Chr3:50402112 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3378C>T (p.Gly1126=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001468616] Chr3:50364720 [GRCh38]
Chr3:50402151 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1340-2A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001378236] Chr3:50378335 [GRCh38]
Chr3:50415766 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.784+9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001406024] Chr3:50380986 [GRCh38]
Chr3:50418417 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001470878] Chr3:50379003 [GRCh38]
Chr3:50416434 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.171C>T (p.Pro57=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474005] Chr3:50503253 [GRCh38]
Chr3:50540684 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3120G>T (p.Leu1040=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001476014] Chr3:50365163 [GRCh38]
Chr3:50402594 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2610T>C (p.Cys870=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001488685] Chr3:50366605 [GRCh38]
Chr3:50404036 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1153-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466416] Chr3:50379206 [GRCh38]
Chr3:50416637 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3431G>A (p.Ter1144=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001504007] Chr3:50364667 [GRCh38]
Chr3:50402098 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1119C>T (p.Ala373=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001398926] Chr3:50379465 [GRCh38]
Chr3:50416896 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2709+14AG[2] microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003104751] Chr3:50366248..50366249 [GRCh38]
Chr3:50403679..50403680 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.829C>T (p.Arg277Ter) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV001784064] Chr3:50380761 [GRCh38]
Chr3:50418192 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.3263C>T (p.Pro1088Leu) single nucleotide variant not provided [RCV001764923] Chr3:50364916 [GRCh38]
Chr3:50402347 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2281C>T (p.Arg761Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001915168] Chr3:50367658 [GRCh38]
Chr3:50405089 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.610T>G (p.Ser204Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002009252] Chr3:50384238 [GRCh38]
Chr3:50421669 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2234C>G (p.Thr745Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001874653] Chr3:50367812 [GRCh38]
Chr3:50405243 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1709A>G (p.Asn570Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001889364] Chr3:50376027 [GRCh38]
Chr3:50413458 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.405+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002044779] Chr3:50434297 [GRCh38]
Chr3:50471728 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.3092G>A (p.Cys1031Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002044947] Chr3:50365362 [GRCh38]
Chr3:50402793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2873C>T (p.Ala958Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001908844] Chr3:50365852 [GRCh38]
Chr3:50403283 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1103C>G (p.Thr368Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001889726] Chr3:50379481 [GRCh38]
Chr3:50416912 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.510+6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001945538] Chr3:50387562 [GRCh38]
Chr3:50424993 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3385_3389dup (p.Gln1132fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001968308] Chr3:50364708..50364709 [GRCh38]
Chr3:50402139..50402140 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1259C>T (p.Thr420Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001893179] Chr3:50379093 [GRCh38]
Chr3:50416524 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2482C>T (p.Arg828Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002006075] Chr3:50367029 [GRCh38]
Chr3:50404460 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1985-14C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001893610] Chr3:50370394 [GRCh38]
Chr3:50407825 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2920del (p.Leu974fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001984758] Chr3:50365684 [GRCh38]
Chr3:50403115 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.463A>G (p.Lys155Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002024601] Chr3:50394111 [GRCh38]
Chr3:50431542 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1551+17G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001913940] Chr3:50377715 [GRCh38]
Chr3:50415146 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2008A>G (p.Ser670Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001928478] Chr3:50370357 [GRCh38]
Chr3:50407788 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2045+1G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001970524] Chr3:50370319 [GRCh38]
Chr3:50407750 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.3099-3C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001895662] Chr3:50365187 [GRCh38]
Chr3:50402618 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_49547968)_(50685477_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001970206] Chr3:49547968..50685477 [GRCh37]
Chr3:3p21.31-21.2		 pathogenic
NM_006030.4(CACNA2D2):c.688G>A (p.Ala230Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002004235] Chr3:50381091 [GRCh38]
Chr3:50418522 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002479427]|Early infantile epileptic encephalopathy with suppression bursts [RCV001910378] Chr3:50381052 [GRCh38]
Chr3:50418483 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1701+2T>C single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002052069] Chr3:50376112 [GRCh38]
Chr3:50413543 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1390-1G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002021107] Chr3:50378098 [GRCh38]
Chr3:50415529 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.2956A>G (p.Ser986Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001970010] Chr3:50365648 [GRCh38]
Chr3:50403079 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1015G>A (p.Val339Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001909233] Chr3:50379569 [GRCh38]
Chr3:50417000 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1199C>T (p.Thr400Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002043400] Chr3:50379153 [GRCh38]
Chr3:50416584 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1874A>G (p.Tyr625Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002003171] Chr3:50375677 [GRCh38]
Chr3:50413108 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3392C>T (p.Pro1131Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001947701] Chr3:50364706 [GRCh38]
Chr3:50402137 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.281T>C (p.Leu94Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001893004] Chr3:50476125 [GRCh38]
Chr3:50513556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3291+13G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002040017] Chr3:50364875 [GRCh38]
Chr3:50402306 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1366G>A (p.Gly456Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001948438] Chr3:50378307 [GRCh38]
Chr3:50415738 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3373C>T (p.Leu1125=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001985875] Chr3:50364725 [GRCh38]
Chr3:50402156 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2402-2A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001966169] Chr3:50367111 [GRCh38]
Chr3:50404542 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.197A>G (p.Gln66Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002049431] Chr3:50503227 [GRCh38]
Chr3:50540658 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.784+20C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002027096] Chr3:50380975 [GRCh38]
Chr3:50418406 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1908-9C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001962500] Chr3:50374822 [GRCh38]
Chr3:50412253 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1260+13C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002104330] Chr3:50379079 [GRCh38]
Chr3:50416510 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.152T>C (p.Leu51Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002036898] Chr3:50503272 [GRCh38]
Chr3:50540703 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1853T>C (p.Ile618Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001959321] Chr3:50375698 [GRCh38]
Chr3:50413129 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.254T>C (p.Met85Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001943304] Chr3:50476152 [GRCh38]
Chr3:50513583 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1339+4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001920850] Chr3:50378911 [GRCh38]
Chr3:50416342 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.305G>A (p.Arg102Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001915627] Chr3:50434413 [GRCh38]
Chr3:50471844 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2972-18C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002029934] Chr3:50365500 [GRCh38]
Chr3:50402931 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.2920_2921del (p.Leu974fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001876921] Chr3:50365683..50365684 [GRCh38]
Chr3:50403114..50403115 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.3104T>G (p.Phe1035Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002019380] Chr3:50365179 [GRCh38]
Chr3:50402610 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3223C>T (p.Gln1075Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002000151] Chr3:50364956 [GRCh38]
Chr3:50402387 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.101_121dup (p.Arg34_Pro40dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001963622] Chr3:50503302..50503303 [GRCh38]
Chr3:50540733..50540734 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1363A>G (p.Ile455Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002038799] Chr3:50378310 [GRCh38]
Chr3:50415741 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1777C>T (p.Arg593Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002046651] Chr3:50375877 [GRCh38]
Chr3:50413308 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3052G>T (p.Val1018Leu) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002497941]|Early infantile epileptic encephalopathy with suppression bursts [RCV001990913] Chr3:50365402 [GRCh38]
Chr3:50402833 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1303G>A (p.Val435Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002016816]|Inborn genetic diseases [RCV003348762] Chr3:50378951 [GRCh38]
Chr3:50416382 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2393A>C (p.His798Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001900292] Chr3:50367402 [GRCh38]
Chr3:50404833 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1178A>G (p.Asn393Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001978565] Chr3:50379174 [GRCh38]
Chr3:50416605 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.870A>T (p.Lys290Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002011663] Chr3:50379991 [GRCh38]
Chr3:50417422 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3076A>G (p.Ile1026Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001878826]|Inborn genetic diseases [RCV002551114] Chr3:50365378 [GRCh38]
Chr3:50402809 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2971+4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001957667] Chr3:50365629 [GRCh38]
Chr3:50403060 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1774-2A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002033451] Chr3:50375882 [GRCh38]
Chr3:50413313 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.2570A>G (p.His857Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001877685] Chr3:50366850 [GRCh38]
Chr3:50404281 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3025A>G (p.Lys1009Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001902631] Chr3:50365429 [GRCh38]
Chr3:50402860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2903C>G (p.Ser968Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001915716] Chr3:50365822 [GRCh38]
Chr3:50403253 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.871_872del (p.Asp291fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002047477] Chr3:50379989..50379990 [GRCh38]
Chr3:50417420..50417421 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.100C>G (p.Arg34Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001957951] Chr3:50503324 [GRCh38]
Chr3:50540755 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.478G>C (p.Val160Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001866702] Chr3:50387600 [GRCh38]
Chr3:50425031 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1219G>A (p.Val407Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001976026] Chr3:50379133 [GRCh38]
Chr3:50416564 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2183del (p.Gly728fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001994775] Chr3:50367863 [GRCh38]
Chr3:50405294 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2218G>C (p.Asp740His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002033197] Chr3:50367828 [GRCh38]
Chr3:50405259 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3047G>A (p.Gly1016Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001878529] Chr3:50365407 [GRCh38]
Chr3:50402838 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1135T>C (p.Phe379Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001904197] Chr3:50379449 [GRCh38]
Chr3:50416880 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1157A>G (p.Asn386Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001973742] Chr3:50379195 [GRCh38]
Chr3:50416626 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2679G>A (p.Val893=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001975042] Chr3:50366297 [GRCh38]
Chr3:50403728 [GRCh37]
Chr3:3p21.31		 likely benign
NC_000003.11:g.(?_50513539)_(50540854_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001972525] Chr3:50513539..50540854 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.196C>G (p.Gln66Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001882244] Chr3:50503228 [GRCh38]
Chr3:50540659 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2916-10T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001940255] Chr3:50365698 [GRCh38]
Chr3:50403129 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3209-7T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001996489] Chr3:50364977 [GRCh38]
Chr3:50402408 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.1655T>C (p.Ile552Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001980650] Chr3:50376160 [GRCh38]
Chr3:50413591 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.100C>T (p.Arg34Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001867395] Chr3:50503324 [GRCh38]
Chr3:50540755 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3220G>A (p.Glu1074Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001939888]|Inborn genetic diseases [RCV003303370] Chr3:50364959 [GRCh38]
Chr3:50402390 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1118C>T (p.Ala373Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002033196] Chr3:50379466 [GRCh38]
Chr3:50416897 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1774-10G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001953568] Chr3:50375890 [GRCh38]
Chr3:50413321 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3299C>T (p.Thr1100Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001906620]|Inborn genetic diseases [RCV002555662] Chr3:50364799 [GRCh38]
Chr3:50402230 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3286G>C (p.Ala1096Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002019099] Chr3:50364893 [GRCh38]
Chr3:50402324 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2206C>T (p.Arg736Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002036439] Chr3:50367840 [GRCh38]
Chr3:50405271 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3011G>A (p.Ser1004Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001940584] Chr3:50365443 [GRCh38]
Chr3:50402874 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.465+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001923079] Chr3:50394106 [GRCh38]
Chr3:50431537 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1152C>T (p.Asn384=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002036509] Chr3:50379432 [GRCh38]
Chr3:50416863 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1169C>T (p.Ala390Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002016074] Chr3:50379183 [GRCh38]
Chr3:50416614 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-10C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001992434] Chr3:50374823 [GRCh38]
Chr3:50412254 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.466-1G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001995497] Chr3:50387613 [GRCh38]
Chr3:50425044 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.860C>T (p.Ser287Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001980407] Chr3:50380001 [GRCh38]
Chr3:50417432 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_50431520)_(50685477_?)dup duplication not provided [RCV001959795] Chr3:50431520..50685477 [GRCh37]
Chr3:3p21.31-21.2		 uncertain significance
NM_006030.4(CACNA2D2):c.2045+9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001940702] Chr3:50370311 [GRCh38]
Chr3:50407742 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.765A>T (p.Gly255=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002018603] Chr3:50381014 [GRCh38]
Chr3:50418445 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.2470A>G (p.Ser824Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001925784] Chr3:50367041 [GRCh38]
Chr3:50404472 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.323A>G (p.Gln108Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002026090] Chr3:50434395 [GRCh38]
Chr3:50471826 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1153T>A (p.Ser385Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001937224] Chr3:50379199 [GRCh38]
Chr3:50416630 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2022A>G (p.Glu674=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001951935] Chr3:50370343 [GRCh38]
Chr3:50407774 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1908C>T (p.Ser636=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002028195] Chr3:50374813 [GRCh38]
Chr3:50412244 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2181G>A (p.Thr727=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001878320] Chr3:50367865 [GRCh38]
Chr3:50405296 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.843G>A (p.Trp281Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001974828] Chr3:50380018 [GRCh38]
Chr3:50417449 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.893+3G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001899277] Chr3:50379965 [GRCh38]
Chr3:50417396 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3185G>C (p.Arg1062Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001919667] Chr3:50365098 [GRCh38]
Chr3:50402529 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3196_3198del (p.Lys1066del) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001973420] Chr3:50365085..50365087 [GRCh38]
Chr3:50402516..50402518 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_50540629)_(50655235_?)dup duplication not provided [RCV002016824] Chr3:50540629..50655235 [GRCh37]
Chr3:3p21.31-21.2		 uncertain significance
NM_006030.4(CACNA2D2):c.3050C>G (p.Ser1017Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001992216] Chr3:50365404 [GRCh38]
Chr3:50402835 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1152+10A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001878593] Chr3:50379422 [GRCh38]
Chr3:50416853 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_006030.4(CACNA2D2):c.364G>A (p.Asp122Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001879508] Chr3:50434354 [GRCh38]
Chr3:50471785 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1868G>A (p.Arg623Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001923429] Chr3:50375683 [GRCh38]
Chr3:50413114 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2354G>A (p.Arg785His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001951626]|Inborn genetic diseases [RCV003170182] Chr3:50367441 [GRCh38]
Chr3:50404872 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1186A>G (p.Ile396Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001920894] Chr3:50379166 [GRCh38]
Chr3:50416597 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1638C>T (p.Asn546=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002108691] Chr3:50376177 [GRCh38]
Chr3:50413608 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3318G>A (p.Gly1106=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002145549] Chr3:50364780 [GRCh38]
Chr3:50402211 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1984+8G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002125474] Chr3:50374729 [GRCh38]
Chr3:50412160 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1702-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002208620] Chr3:50376051 [GRCh38]
Chr3:50413482 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1479+16A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002075754] Chr3:50377992 [GRCh38]
Chr3:50415423 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.653-12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002189523] Chr3:50381138 [GRCh38]
Chr3:50418569 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.354G>A (p.Lys118=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002147130] Chr3:50434364 [GRCh38]
Chr3:50471795 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2401+13G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002086478] Chr3:50367381 [GRCh38]
Chr3:50404812 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2710-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002170158] Chr3:50366179 [GRCh38]
Chr3:50403610 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-14del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002107470] Chr3:50370394 [GRCh38]
Chr3:50407825 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1984+11C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002207565] Chr3:50374726 [GRCh38]
Chr3:50412157 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1479+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002086985] Chr3:50377996 [GRCh38]
Chr3:50415427 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3099-19C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002086616] Chr3:50365203 [GRCh38]
Chr3:50402634 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2863-15C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002124899] Chr3:50365877 [GRCh38]
Chr3:50403308 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1386A>G (p.Thr462=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002091807] Chr3:50378287 [GRCh38]
Chr3:50415718 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1017G>A (p.Val339=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002072812] Chr3:50379567 [GRCh38]
Chr3:50416998 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1170C>G (p.Ala390=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002166275] Chr3:50379182 [GRCh38]
Chr3:50416613 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3209-16C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002188581] Chr3:50364986 [GRCh38]
Chr3:50402417 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.258G>C (p.Arg86=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002169273] Chr3:50476148 [GRCh38]
Chr3:50513579 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1340-13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002075251] Chr3:50378346 [GRCh38]
Chr3:50415777 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1909C>T (p.Leu637=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002091927] Chr3:50374812 [GRCh38]
Chr3:50412243 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.57G>A (p.Ala19=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002208805] Chr3:50503367 [GRCh38]
Chr3:50540798 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+11A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002086047] Chr3:50379081 [GRCh38]
Chr3:50416512 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1153-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002104281] Chr3:50379216 [GRCh38]
Chr3:50416647 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.618G>T (p.Ala206=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002190752] Chr3:50384230 [GRCh38]
Chr3:50421661 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2402-14del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002124739] Chr3:50367123 [GRCh38]
Chr3:50404554 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2775C>T (p.Tyr925=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002106368] Chr3:50366098 [GRCh38]
Chr3:50403529 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.993+11A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002186303] Chr3:50379714 [GRCh38]
Chr3:50417145 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2298-4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002206230] Chr3:50367501 [GRCh38]
Chr3:50404932 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3291+16G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002168164] Chr3:50364872 [GRCh38]
Chr3:50402303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.405+17G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002089355] Chr3:50434296 [GRCh38]
Chr3:50471727 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.294C>T (p.Tyr98=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002128678] Chr3:50434424 [GRCh38]
Chr3:50471855 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.390G>A (p.Lys130=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002071532] Chr3:50434328 [GRCh38]
Chr3:50471759 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.206+13G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002208104] Chr3:50503205 [GRCh38]
Chr3:50540636 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2424G>A (p.Leu808=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002091913] Chr3:50367087 [GRCh38]
Chr3:50404518 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1552-12T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002107912] Chr3:50377553 [GRCh38]
Chr3:50414984 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1552-17del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002144967] Chr3:50377558 [GRCh38]
Chr3:50414989 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.3098+16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002169232] Chr3:50365340 [GRCh38]
Chr3:50402771 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.267A>C (p.Gly89=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002097730] Chr3:50476139 [GRCh38]
Chr3:50513570 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-12C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002174246] Chr3:50377815 [GRCh38]
Chr3:50415246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1033C>T (p.Leu345=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002145908] Chr3:50379551 [GRCh38]
Chr3:50416982 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+15A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002174288] Chr3:50379077 [GRCh38]
Chr3:50416508 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2046-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002172015] Chr3:50368244 [GRCh38]
Chr3:50405675 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.405+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002165686] Chr3:50434293 [GRCh38]
Chr3:50471724 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1617C>G (p.Pro539=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002091420] Chr3:50377476 [GRCh38]
Chr3:50414907 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2589+11_2589+16dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002213775] Chr3:50366814..50366815 [GRCh38]
Chr3:50404245..50404246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002097578] Chr3:50379009 [GRCh38]
Chr3:50416440 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1998G>C (p.Leu666=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002079000] Chr3:50370367 [GRCh38]
Chr3:50407798 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3138C>T (p.Leu1046=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002084993] Chr3:50365145 [GRCh38]
Chr3:50402576 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2526G>A (p.Glu842=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002077632] Chr3:50366894 [GRCh38]
Chr3:50404325 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2473C>T (p.Leu825=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002171335] Chr3:50367038 [GRCh38]
Chr3:50404469 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3372C>T (p.Leu1124=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002078594] Chr3:50364726 [GRCh38]
Chr3:50402157 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1170C>T (p.Ala390=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002128220] Chr3:50379182 [GRCh38]
Chr3:50416613 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1984+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002096472] Chr3:50374725 [GRCh38]
Chr3:50412156 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3369C>G (p.Leu1123=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002097656] Chr3:50364729 [GRCh38]
Chr3:50402160 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3098+11T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002095347] Chr3:50365345 [GRCh38]
Chr3:50402776 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2046-8A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002125458] Chr3:50368243 [GRCh38]
Chr3:50405674 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1092G>A (p.Val364=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002092185] Chr3:50379492 [GRCh38]
Chr3:50416923 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002134192] Chr3:50364812 [GRCh38]
Chr3:50402243 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002212734] Chr3:50378999 [GRCh38]
Chr3:50416430 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002108544] Chr3:50370394 [GRCh38]
Chr3:50407825 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2863-19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002132190] Chr3:50365881 [GRCh38]
Chr3:50403312 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1260+7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002110557] Chr3:50379085 [GRCh38]
Chr3:50416516 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.653-13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002152686] Chr3:50381139 [GRCh38]
Chr3:50418570 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2500+7G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002194735] Chr3:50367004 [GRCh38]
Chr3:50404435 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002194059] Chr3:50379072 [GRCh38]
Chr3:50416503 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2070C>T (p.Ala690=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002165966] Chr3:50368211 [GRCh38]
Chr3:50405642 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3209-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002124438] Chr3:50364986 [GRCh38]
Chr3:50402417 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-9dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002077121] Chr3:50364814..50364815 [GRCh38]
Chr3:50402245..50402246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2401+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002148403] Chr3:50367378 [GRCh38]
Chr3:50404809 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1875C>T (p.Tyr625=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002173285] Chr3:50375676 [GRCh38]
Chr3:50413107 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.129G>A (p.Pro43=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002151989] Chr3:50503295 [GRCh38]
Chr3:50540726 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.702G>A (p.Val234=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002166708] Chr3:50381077 [GRCh38]
Chr3:50418508 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2972-4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002133510] Chr3:50365486 [GRCh38]
Chr3:50402917 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.828C>G (p.Val276=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002206165] Chr3:50380762 [GRCh38]
Chr3:50418193 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1340-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002207688] Chr3:50378350 [GRCh38]
Chr3:50415781 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.3336G>C (p.Ser1112=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002083002] Chr3:50364762 [GRCh38]
Chr3:50402193 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3291+14G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002197680] Chr3:50364874 [GRCh38]
Chr3:50402305 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1340-11T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002081172] Chr3:50378344 [GRCh38]
Chr3:50415775 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1626+13C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002119305] Chr3:50377454 [GRCh38]
Chr3:50414885 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3198G>A (p.Lys1066=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002083265] Chr3:50365085 [GRCh38]
Chr3:50402516 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1339+11dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002104090] Chr3:50378903..50378904 [GRCh38]
Chr3:50416334..50416335 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-15T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002098601] Chr3:50377818 [GRCh38]
Chr3:50415249 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2501-11C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002136414] Chr3:50366930 [GRCh38]
Chr3:50404361 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2166C>T (p.Asn722=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002122529] Chr3:50367880 [GRCh38]
Chr3:50405311 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.861G>T (p.Ser287=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002178148] Chr3:50380000 [GRCh38]
Chr3:50417431 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-12C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002182243] Chr3:50364818 [GRCh38]
Chr3:50402249 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2589+16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002136852] Chr3:50366815 [GRCh38]
Chr3:50404246 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2915+19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002155469] Chr3:50365791 [GRCh38]
Chr3:50403222 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1908-18G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002140690] Chr3:50374831 [GRCh38]
Chr3:50412262 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2045+16C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002099661] Chr3:50370304 [GRCh38]
Chr3:50407735 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.723A>G (p.Gln241=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002220536] Chr3:50381056 [GRCh38]
Chr3:50418487 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1908-19C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002098162] Chr3:50374832 [GRCh38]
Chr3:50412263 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2577C>T (p.Asp859=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002137797] Chr3:50366843 [GRCh38]
Chr3:50404274 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2862+14G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002217371] Chr3:50365997 [GRCh38]
Chr3:50403428 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1339+14G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002142122] Chr3:50378901 [GRCh38]
Chr3:50416332 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.942C>T (p.Val314=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002158977] Chr3:50379776 [GRCh38]
Chr3:50417207 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1153-11A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002160599] Chr3:50379210 [GRCh38]
Chr3:50416641 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.453G>A (p.Gln151=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002119232] Chr3:50394121 [GRCh38]
Chr3:50431552 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2988G>A (p.Glu996=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002162707] Chr3:50365466 [GRCh38]
Chr3:50402897 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.652+19C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002199616] Chr3:50384177 [GRCh38]
Chr3:50421608 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1701+11C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002103261] Chr3:50376103 [GRCh38]
Chr3:50413534 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.1153-16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002121458] Chr3:50379215 [GRCh38]
Chr3:50416646 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-19C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002182537] Chr3:50377822 [GRCh38]
Chr3:50415253 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2862+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002182626] Chr3:50365999 [GRCh38]
Chr3:50403430 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.406-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002182638] Chr3:50394188 [GRCh38]
Chr3:50431619 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3078C>T (p.Ile1026=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002144567] Chr3:50365376 [GRCh38]
Chr3:50402807 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2416C>T (p.Leu806=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002140893] Chr3:50367095 [GRCh38]
Chr3:50404526 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1144C>T (p.Leu382=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002175725] Chr3:50379440 [GRCh38]
Chr3:50416871 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1845+12G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002200108] Chr3:50375797 [GRCh38]
Chr3:50413228 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002102357] Chr3:50364810 [GRCh38]
Chr3:50402241 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2220C>T (p.Asp740=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002217016] Chr3:50367826 [GRCh38]
Chr3:50405257 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2709+18A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002179515] Chr3:50366249 [GRCh38]
Chr3:50403680 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1044C>T (p.Ala348=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002161733] Chr3:50379540 [GRCh38]
Chr3:50416971 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2637+9_2637+10dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002221111] Chr3:50366567..50366568 [GRCh38]
Chr3:50403998..50403999 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1627-14A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002217494] Chr3:50376202 [GRCh38]
Chr3:50413633 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2916-5T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002176447] Chr3:50365693 [GRCh38]
Chr3:50403124 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2190G>C (p.Thr730=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002183548] Chr3:50367856 [GRCh38]
Chr3:50405287 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+14G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002157189] Chr3:50379078 [GRCh38]
Chr3:50416509 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.405+7G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002137211] Chr3:50434306 [GRCh38]
Chr3:50471737 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2841T>C (p.Ala947=) single nucleotide variant CACNA2D2-related condition [RCV003958667]|Early infantile epileptic encephalopathy with suppression bursts [RCV002119531] Chr3:50366032 [GRCh38]
Chr3:50403463 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2144-16_2144-15del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002140762] Chr3:50367917..50367918 [GRCh38]
Chr3:50405348..50405349 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.139C>T (p.Leu47=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002161843] Chr3:50503285 [GRCh38]
Chr3:50540716 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2916-18G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002158068] Chr3:50365706 [GRCh38]
Chr3:50403137 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1701+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002081756] Chr3:50376102 [GRCh38]
Chr3:50413533 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1686C>T (p.Pro562=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002140819] Chr3:50376129 [GRCh38]
Chr3:50413560 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2710-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002081613] Chr3:50366172 [GRCh38]
Chr3:50403603 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2862+8C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002121746] Chr3:50366003 [GRCh38]
Chr3:50403434 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.459C>T (p.Asn153=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002100352] Chr3:50394115 [GRCh38]
Chr3:50431546 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3099-14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002219072] Chr3:50365198 [GRCh38]
Chr3:50402629 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.843-17_843-16del microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV002124192] Chr3:50380034..50380035 [GRCh38]
Chr3:50417465..50417466 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.994-10G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002204513] Chr3:50379600 [GRCh38]
Chr3:50417031 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.843-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002101304] Chr3:50380038 [GRCh38]
Chr3:50417469 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1702-8T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002121163] Chr3:50376042 [GRCh38]
Chr3:50413473 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2143+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002120884] Chr3:50368126 [GRCh38]
Chr3:50405557 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2045+10G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002180119] Chr3:50370310 [GRCh38]
Chr3:50407741 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2234+17C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002122536] Chr3:50367795 [GRCh38]
Chr3:50405226 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2780G>A (p.Arg927His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003116042] Chr3:50366093 [GRCh38]
Chr3:50403524 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1984+14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003116066] Chr3:50374723 [GRCh38]
Chr3:50412154 [GRCh37]
Chr3:3p21.31		 likely benign
NC_000003.11:g.(?_50378802)_(50471880_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003116482] Chr3:50378802..50471880 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_50513529)_(50540854_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003116483] Chr3:50513529..50540854 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2500+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003115578] Chr3:50366991 [GRCh38]
Chr3:50404422 [GRCh37]
Chr3:3p21.31		 likely benign
NC_000003.11:g.(?_49866536)_(50540854_?)dup duplication Primary ciliary dyskinesia [RCV003119656] Chr3:49866536..50540854 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1840del (p.Asp614fs) deletion Cerebellar atrophy with seizures and variable developmental delay [RCV002251267] Chr3:50375814 [GRCh38]
Chr3:50413245 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.3362T>G (p.Leu1121Arg) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002285088] Chr3:50364736 [GRCh38]
Chr3:50402167 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.1039C>T (p.Gln347Ter) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002266762] Chr3:50379545 [GRCh38]
Chr3:50416976 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.1126G>T (p.Glu376Ter) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV002471683] Chr3:50379458 [GRCh38]
Chr3:50416889 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh37/hg19 3p21.31(chr3:50364292-50492932)x1 copy number loss not provided [RCV002473664] Chr3:50364292..50492932 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2616G>A (p.Met872Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002304543] Chr3:50366599 [GRCh38]
Chr3:50404030 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.11C>T (p.Pro4Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002304657] Chr3:50503413 [GRCh38]
Chr3:50540844 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.617C>A (p.Ala206Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002303390] Chr3:50384231 [GRCh38]
Chr3:50421662 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2650G>T (p.Val884Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002904635] Chr3:50366326 [GRCh38]
Chr3:50403757 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2144-3del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002967828] Chr3:50367905 [GRCh38]
Chr3:50405336 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3208+8G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003032417] Chr3:50365067 [GRCh38]
Chr3:50402498 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.10C>G (p.Pro4Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002730930] Chr3:50503414 [GRCh38]
Chr3:50540845 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2401+12C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002994903] Chr3:50367382 [GRCh38]
Chr3:50404813 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1627-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002972303] Chr3:50376204 [GRCh38]
Chr3:50413635 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2298-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002838331] Chr3:50367517 [GRCh38]
Chr3:50404948 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1939T>G (p.Phe647Val) single nucleotide variant Inborn genetic diseases [RCV002860731] Chr3:50374782 [GRCh38]
Chr3:50412213 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-4T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003074880] Chr3:50374817 [GRCh38]
Chr3:50412248 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3292-12C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002993524] Chr3:50364818 [GRCh38]
Chr3:50402249 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2234+1G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002880352] Chr3:50367811 [GRCh38]
Chr3:50405242 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.81C>T (p.Pro27=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002904099] Chr3:50503343 [GRCh38]
Chr3:50540774 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.145C>T (p.Pro49Ser) single nucleotide variant Inborn genetic diseases [RCV002753456] Chr3:50503279 [GRCh38]
Chr3:50540710 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.107_177del (p.Pro36fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003034326] Chr3:50503247..50503317 [GRCh38]
Chr3:50540678..50540748 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1574T>C (p.Met525Thr) single nucleotide variant Inborn genetic diseases [RCV002864882] Chr3:50377519 [GRCh38]
Chr3:50414950 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.195C>G (p.Pro65=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002994778] Chr3:50503229 [GRCh38]
Chr3:50540660 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.709G>C (p.Glu237Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002996493] Chr3:50381070 [GRCh38]
Chr3:50418501 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3111G>C (p.Ala1037=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003014233] Chr3:50365172 [GRCh38]
Chr3:50402603 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.652+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002842432] Chr3:50384176 [GRCh38]
Chr3:50421607 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2397G>A (p.Gln799=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002690085] Chr3:50367398 [GRCh38]
Chr3:50404829 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+14G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003075437] Chr3:50379078 [GRCh38]
Chr3:50416509 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.97A>C (p.Thr33Pro) single nucleotide variant Inborn genetic diseases [RCV002993033] Chr3:50503327 [GRCh38]
Chr3:50540758 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.653-14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002858604] Chr3:50381140 [GRCh38]
Chr3:50418571 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1389+7C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002863470] Chr3:50378277 [GRCh38]
Chr3:50415708 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.146C>G (p.Pro49Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003014221] Chr3:50503278 [GRCh38]
Chr3:50540709 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1162_1165del (p.Thr388fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003014671] Chr3:50379187..50379190 [GRCh38]
Chr3:50416618..50416621 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.3364C>G (p.Leu1122Val) single nucleotide variant Inborn genetic diseases [RCV002731958] Chr3:50364734 [GRCh38]
Chr3:50402165 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.485A>G (p.Tyr162Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003015499] Chr3:50387593 [GRCh38]
Chr3:50425024 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1261-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002863754] Chr3:50379010 [GRCh38]
Chr3:50416441 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1633G>A (p.Ala545Thr) single nucleotide variant Inborn genetic diseases [RCV002836871] Chr3:50376182 [GRCh38]
Chr3:50413613 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3354C>T (p.Ser1118=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002908027] Chr3:50364744 [GRCh38]
Chr3:50402175 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2144-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003014417] Chr3:50367911 [GRCh38]
Chr3:50405342 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1701G>C (p.Gln567His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002857986] Chr3:50376114 [GRCh38]
Chr3:50413545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.691C>G (p.Leu231Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003017163] Chr3:50381088 [GRCh38]
Chr3:50418519 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2500G>A (p.Val834Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002819714] Chr3:50367011 [GRCh38]
Chr3:50404442 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2971+19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002819721] Chr3:50365614 [GRCh38]
Chr3:50403045 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1720C>T (p.Pro574Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002880585] Chr3:50376016 [GRCh38]
Chr3:50413447 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.707T>G (p.Met236Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003037734] Chr3:50381072 [GRCh38]
Chr3:50418503 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2869G>A (p.Val957Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003021696] Chr3:50365856 [GRCh38]
Chr3:50403287 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2185A>G (p.Ile729Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002593304] Chr3:50367861 [GRCh38]
Chr3:50405292 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1297T>G (p.Tyr433Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002825599] Chr3:50378957 [GRCh38]
Chr3:50416388 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.993+8C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002619534] Chr3:50379717 [GRCh38]
Chr3:50417148 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1339+16A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002640485] Chr3:50378899 [GRCh38]
Chr3:50416330 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-5C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002909212] Chr3:50378998 [GRCh38]
Chr3:50416429 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.465+13G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003038669] Chr3:50394096 [GRCh38]
Chr3:50431527 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.511-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002780331] Chr3:50384357 [GRCh38]
Chr3:50421788 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1896C>T (p.Ser632=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002825473] Chr3:50375655 [GRCh38]
Chr3:50413086 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2298-14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002623152] Chr3:50367511 [GRCh38]
Chr3:50404942 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2324C>T (p.Pro775Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003017915] Chr3:50367471 [GRCh38]
Chr3:50404902 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1780C>G (p.Arg594Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002999920] Chr3:50375874 [GRCh38]
Chr3:50413305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1132G>T (p.Ala378Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003036312] Chr3:50379452 [GRCh38]
Chr3:50416883 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1908-6C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003079447] Chr3:50374819 [GRCh38]
Chr3:50412250 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2373T>C (p.Gly791=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002999695] Chr3:50367422 [GRCh38]
Chr3:50404853 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1867C>T (p.Arg623Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002999947] Chr3:50375684 [GRCh38]
Chr3:50413115 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.83A>C (p.His28Pro) single nucleotide variant Inborn genetic diseases [RCV003000349] Chr3:50503341 [GRCh38]
Chr3:50540772 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2500+19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002691167] Chr3:50366992 [GRCh38]
Chr3:50404423 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1984+15C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003036586] Chr3:50374722 [GRCh38]
Chr3:50412153 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1570G>C (p.Val524Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002796467] Chr3:50377523 [GRCh38]
Chr3:50414954 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1846-4C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002923968] Chr3:50375709 [GRCh38]
Chr3:50413140 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.109A>C (p.Thr37Pro) single nucleotide variant Inborn genetic diseases [RCV002692406] Chr3:50503315 [GRCh38]
Chr3:50540746 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.174C>T (p.Gly58=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002761410] Chr3:50503250 [GRCh38]
Chr3:50540681 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2335A>G (p.Asn779Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003080886] Chr3:50367460 [GRCh38]
Chr3:50404891 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.490G>T (p.Ala164Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002979918] Chr3:50387588 [GRCh38]
Chr3:50425019 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2251G>A (p.Val751Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003054059] Chr3:50367688 [GRCh38]
Chr3:50405119 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.25G>T (p.Gly9Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002975944] Chr3:50503399 [GRCh38]
Chr3:50540830 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.784+15_784+16del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003038388] Chr3:50380979..50380980 [GRCh38]
Chr3:50418410..50418411 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1339+10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003020862] Chr3:50378905 [GRCh38]
Chr3:50416336 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1701+6C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002622398] Chr3:50376108 [GRCh38]
Chr3:50413539 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3171G>A (p.Gln1057=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002889262] Chr3:50365112 [GRCh38]
Chr3:50402543 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2502G>T (p.Val834=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002761407] Chr3:50366918 [GRCh38]
Chr3:50404349 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3098+12G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002636539] Chr3:50365344 [GRCh38]
Chr3:50402775 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2863-12T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002690862] Chr3:50365874 [GRCh38]
Chr3:50403305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.302A>G (p.Asn101Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003054680] Chr3:50434416 [GRCh38]
Chr3:50471847 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1359T>C (p.Pro453=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002867133] Chr3:50378314 [GRCh38]
Chr3:50415745 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.69C>T (p.Pro23=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002870691] Chr3:50503355 [GRCh38]
Chr3:50540786 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1234G>A (p.Glu412Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002622218] Chr3:50379118 [GRCh38]
Chr3:50416549 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3078C>A (p.Ile1026=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002953268] Chr3:50365376 [GRCh38]
Chr3:50402807 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2401+3G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003038439] Chr3:50367391 [GRCh38]
Chr3:50404822 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.653-19G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002870780] Chr3:50381145 [GRCh38]
Chr3:50418576 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1552-17dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002933262] Chr3:50377557..50377558 [GRCh38]
Chr3:50414988..50414989 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.785-14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002982786] Chr3:50380819 [GRCh38]
Chr3:50418250 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.894-15G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003058696] Chr3:50379839 [GRCh38]
Chr3:50417270 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3034C>T (p.Gln1012Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002894044] Chr3:50365420 [GRCh38]
Chr3:50402851 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1535G>T (p.Gly512Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002918528] Chr3:50377748 [GRCh38]
Chr3:50415179 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.946G>A (p.Glu316Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002596482] Chr3:50379772 [GRCh38]
Chr3:50417203 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1172A>G (p.Asn391Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003058931] Chr3:50379180 [GRCh38]
Chr3:50416611 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2210T>C (p.Val737Ala) single nucleotide variant Inborn genetic diseases [RCV002713321] Chr3:50367836 [GRCh38]
Chr3:50405267 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2972-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002982544] Chr3:50365491 [GRCh38]
Chr3:50402922 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.235C>T (p.Gln79Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002710661] Chr3:50476171 [GRCh38]
Chr3:50513602 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.278A>G (p.Gln93Arg) single nucleotide variant Inborn genetic diseases [RCV002915237] Chr3:50476128 [GRCh38]
Chr3:50513559 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.981G>A (p.Val327=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003005899] Chr3:50379737 [GRCh38]
Chr3:50417168 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2779C>T (p.Arg927Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003006224] Chr3:50366094 [GRCh38]
Chr3:50403525 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1984+19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002573905] Chr3:50374718 [GRCh38]
Chr3:50412149 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.672G>A (p.Glu224=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002828388] Chr3:50381107 [GRCh38]
Chr3:50418538 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.16C>T (p.Arg6Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002985471] Chr3:50503408 [GRCh38]
Chr3:50540839 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2646_2647del (p.Val884fs) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003023792] Chr3:50366329..50366330 [GRCh38]
Chr3:50403760..50403761 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1340-12C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002625009] Chr3:50378345 [GRCh38]
Chr3:50415776 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1734C>G (p.Asp578Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002851809] Chr3:50376002 [GRCh38]
Chr3:50413433 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1907+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003023967] Chr3:50375641 [GRCh38]
Chr3:50413072 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1376G>T (p.Arg459Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002928785] Chr3:50378297 [GRCh38]
Chr3:50415728 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2643dup (p.Leu882fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002828177] Chr3:50366332..50366333 [GRCh38]
Chr3:50403763..50403764 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2046-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003043294] Chr3:50368251 [GRCh38]
Chr3:50405682 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2972-14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002663601] Chr3:50365496 [GRCh38]
Chr3:50402927 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2143+15G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002643948] Chr3:50368123 [GRCh38]
Chr3:50405554 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2787G>A (p.Glu929=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002800777] Chr3:50366086 [GRCh38]
Chr3:50403517 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3208+8_3208+9insA insertion Early infantile epileptic encephalopathy with suppression bursts [RCV003024578] Chr3:50365066..50365067 [GRCh38]
Chr3:50402497..50402498 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1626+12C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002893896] Chr3:50377455 [GRCh38]
Chr3:50414886 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3205C>T (p.His1069Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002574676] Chr3:50365078 [GRCh38]
Chr3:50402509 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3113A>G (p.Gln1038Arg) single nucleotide variant Inborn genetic diseases [RCV002803349] Chr3:50365170 [GRCh38]
Chr3:50402601 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1839G>A (p.Leu613=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002700934] Chr3:50375815 [GRCh38]
Chr3:50413246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1152+7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003042370] Chr3:50379425 [GRCh38]
Chr3:50416856 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1941C>G (p.Phe647Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002894718] Chr3:50374780 [GRCh38]
Chr3:50412211 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.773G>A (p.Arg258His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002765946] Chr3:50381006 [GRCh38]
Chr3:50418437 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3402A>G (p.Gln1134=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003048724] Chr3:50364696 [GRCh38]
Chr3:50402127 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3414C>T (p.His1138=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002716836] Chr3:50364684 [GRCh38]
Chr3:50402115 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2790C>A (p.Ser930=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003028239] Chr3:50366083 [GRCh38]
Chr3:50403514 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.406-13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003011534] Chr3:50394181 [GRCh38]
Chr3:50431612 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.653-20A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003031983] Chr3:50381146 [GRCh38]
Chr3:50418577 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3099-16dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002582173] Chr3:50365199..50365200 [GRCh38]
Chr3:50402630..50402631 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.994-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002746286] Chr3:50379597 [GRCh38]
Chr3:50417028 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3068A>G (p.Asn1023Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002720331] Chr3:50365386 [GRCh38]
Chr3:50402817 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.511-13G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002650069] Chr3:50384350 [GRCh38]
Chr3:50421781 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2637+18C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003090100] Chr3:50366560 [GRCh38]
Chr3:50403991 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3424C>G (p.Arg1142Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003064159] Chr3:50364674 [GRCh38]
Chr3:50402105 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1340-19G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002632936] Chr3:50378352 [GRCh38]
Chr3:50415783 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.427A>T (p.Asn143Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002715789] Chr3:50394147 [GRCh38]
Chr3:50431578 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2941G>A (p.Gly981Ser) single nucleotide variant Inborn genetic diseases [RCV002941350] Chr3:50365663 [GRCh38]
Chr3:50403094 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1907+9G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002895719] Chr3:50375635 [GRCh38]
Chr3:50413066 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2563C>T (p.Arg855Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002599528] Chr3:50366857 [GRCh38]
Chr3:50404288 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1552-13C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002857817] Chr3:50377554 [GRCh38]
Chr3:50414985 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.392T>G (p.Val131Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002791768] Chr3:50434326 [GRCh38]
Chr3:50471757 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1264C>T (p.Arg422Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002717158] Chr3:50378990 [GRCh38]
Chr3:50416421 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.785-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002715166] Chr3:50380822 [GRCh38]
Chr3:50418253 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.318G>C (p.Glu106Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002938212] Chr3:50434400 [GRCh38]
Chr3:50471831 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2308G>A (p.Asp770Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002806344] Chr3:50367487 [GRCh38]
Chr3:50404918 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.542G>A (p.Gly181Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002671170] Chr3:50384306 [GRCh38]
Chr3:50421737 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1784G>A (p.Ser595Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003089244] Chr3:50375870 [GRCh38]
Chr3:50413301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.771T>C (p.Thr257=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002877623] Chr3:50381008 [GRCh38]
Chr3:50418439 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.885_890dup (p.Val298_Ser299insAspVal) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002807004] Chr3:50379970..50379971 [GRCh38]
Chr3:50417401..50417402 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2501-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002646103] Chr3:50366926 [GRCh38]
Chr3:50404357 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.963G>C (p.Leu321=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003091149] Chr3:50379755 [GRCh38]
Chr3:50417186 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2709+17G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002877516] Chr3:50366250 [GRCh38]
Chr3:50403681 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.493A>G (p.Lys165Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002810481] Chr3:50387585 [GRCh38]
Chr3:50425016 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1261-10C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003029161] Chr3:50379003 [GRCh38]
Chr3:50416434 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003143522]|Early infantile epileptic encephalopathy with suppression bursts [RCV002651155]|Inborn genetic diseases [RCV002651156] Chr3:50365655 [GRCh38]
Chr3:50403086 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2045+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002833291] Chr3:50370300 [GRCh38]
Chr3:50407731 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2297+16C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003089300] Chr3:50367626 [GRCh38]
Chr3:50405057 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3208+9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002895228] Chr3:50365066 [GRCh38]
Chr3:50402497 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3408C>T (p.Leu1136=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003061620] Chr3:50364690 [GRCh38]
Chr3:50402121 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002580114] Chr3:50377813 [GRCh38]
Chr3:50415244 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.207-10C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002856635] Chr3:50476209 [GRCh38]
Chr3:50513640 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.70G>C (p.Gly24Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003087690] Chr3:50503354 [GRCh38]
Chr3:50540785 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1756G>A (p.Asp586Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002966228] Chr3:50375980 [GRCh38]
Chr3:50413411 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3018C>T (p.Cys1006=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002895403] Chr3:50365436 [GRCh38]
Chr3:50402867 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2863-11C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002627684] Chr3:50365873 [GRCh38]
Chr3:50403304 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3244C>A (p.Pro1082Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002715625] Chr3:50364935 [GRCh38]
Chr3:50402366 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.831A>C (p.Arg277=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002672172] Chr3:50380759 [GRCh38]
Chr3:50418190 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.994-6del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003030046] Chr3:50379596 [GRCh38]
Chr3:50417027 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-5dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002646654] Chr3:50378997..50378998 [GRCh38]
Chr3:50416428..50416429 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2268C>T (p.Asp756=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002647217] Chr3:50367671 [GRCh38]
Chr3:50405102 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2501-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002601159] Chr3:50366936 [GRCh38]
Chr3:50404367 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2075ACA[2] (p.Asn694del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003031089] Chr3:50368198..50368200 [GRCh38]
Chr3:50405629..50405631 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1627-18C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003009042] Chr3:50376206 [GRCh38]
Chr3:50413637 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-14dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002647658] Chr3:50370393..50370394 [GRCh38]
Chr3:50407824..50407825 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.406-33_406-17dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002962482] Chr3:50394184..50394185 [GRCh38]
Chr3:50431615..50431616 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2072C>T (p.Ser691Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003051151] Chr3:50368209 [GRCh38]
Chr3:50405640 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1266C>T (p.Arg422=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003068553] Chr3:50378988 [GRCh38]
Chr3:50416419 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1615C>T (p.Pro539Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002814886] Chr3:50377478 [GRCh38]
Chr3:50414909 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.784+2T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003049744] Chr3:50380993 [GRCh38]
Chr3:50418424 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.2353C>T (p.Arg785Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002586803] Chr3:50367442 [GRCh38]
Chr3:50404873 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1376G>A (p.Arg459His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003071713] Chr3:50378297 [GRCh38]
Chr3:50415728 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1626G>A (p.Thr542=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002586869] Chr3:50377467 [GRCh38]
Chr3:50414898 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1218C>T (p.Arg406=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003050702] Chr3:50379134 [GRCh38]
Chr3:50416565 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1645G>C (p.Val549Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002609030] Chr3:50376170 [GRCh38]
Chr3:50413601 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1488G>A (p.Gly496=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002942557] Chr3:50377795 [GRCh38]
Chr3:50415226 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260G>A (p.Thr420=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002607611] Chr3:50379092 [GRCh38]
Chr3:50416523 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1704C>T (p.Thr568=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003069606] Chr3:50376032 [GRCh38]
Chr3:50413463 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3397C>T (p.Pro1133Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002680952] Chr3:50364701 [GRCh38]
Chr3:50402132 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.635C>T (p.Thr212Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002611688] Chr3:50384213 [GRCh38]
Chr3:50421644 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3291+10G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002610302] Chr3:50364878 [GRCh38]
Chr3:50402309 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.759C>A (p.Ala253=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002612334] Chr3:50381020 [GRCh38]
Chr3:50418451 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1357C>T (p.Pro453Ser) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003143944] Chr3:50378316 [GRCh38]
Chr3:50415747 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1570G>A (p.Val524Met) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003143946] Chr3:50377523 [GRCh38]
Chr3:50414954 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1690C>G (p.Leu564Val) single nucleotide variant Inborn genetic diseases [RCV003304089] Chr3:50376125 [GRCh38]
Chr3:50413556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2476G>T (p.Gly826Cys) single nucleotide variant Inborn genetic diseases [RCV003309671] Chr3:50367035 [GRCh38]
Chr3:50404466 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.135G>A (p.Trp45Ter) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003338166] Chr3:50503289 [GRCh38]
Chr3:50540720 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.3014G>A (p.Ser1005Asn) single nucleotide variant Inborn genetic diseases [RCV003356651] Chr3:50365440 [GRCh38]
Chr3:50402871 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3003G>A (p.Thr1001=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003873377] Chr3:50365451 [GRCh38]
Chr3:50402882 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2760_2764del (p.Tyr920_Asn922delinsTer) deletion not provided [RCV003433607] Chr3:50366109..50366113 [GRCh38]
Chr3:50403540..50403544 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.277C>T (p.Gln93Ter) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003447880] Chr3:50476129 [GRCh38]
Chr3:50513560 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.2268C>A (p.Asp756Glu) single nucleotide variant not provided [RCV003481700] Chr3:50367671 [GRCh38]
Chr3:50405102 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1551+6G>A single nucleotide variant not provided [RCV003433608] Chr3:50377726 [GRCh38]
Chr3:50415157 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2402-6C>T single nucleotide variant CACNA2D2-related condition [RCV003408452] Chr3:50367115 [GRCh38]
Chr3:50404546 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.751G>A (p.Gly251Ser) single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003492943] Chr3:50381028 [GRCh38]
Chr3:50418459 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2349C>T (p.Tyr783=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003882359] Chr3:50367446 [GRCh38]
Chr3:50404877 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3195G>A (p.Gln1065=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003880001] Chr3:50365088 [GRCh38]
Chr3:50402519 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2235-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003878244] Chr3:50367724 [GRCh38]
Chr3:50405155 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.984T>C (p.Asn328=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003832135] Chr3:50379734 [GRCh38]
Chr3:50417165 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.894-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753781] Chr3:50379844 [GRCh38]
Chr3:50417275 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1923C>G (p.Leu641=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753867] Chr3:50374798 [GRCh38]
Chr3:50412229 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.81C>G (p.Pro27=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753919] Chr3:50503343 [GRCh38]
Chr3:50540774 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.206+14G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754057] Chr3:50503204 [GRCh38]
Chr3:50540635 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2991_2994del (p.Ser998fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003754156] Chr3:50365460..50365463 [GRCh38]
Chr3:50402891..50402894 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2760C>T (p.Tyr920=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754175] Chr3:50366113 [GRCh38]
Chr3:50403544 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.406-9G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752704] Chr3:50394177 [GRCh38]
Chr3:50431608 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2144-19C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752799] Chr3:50367921 [GRCh38]
Chr3:50405352 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1479+7C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752881] Chr3:50378001 [GRCh38]
Chr3:50415432 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2863-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752978] Chr3:50365882 [GRCh38]
Chr3:50403313 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1017del (p.Ser340fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003754523] Chr3:50379567 [GRCh38]
Chr3:50416998 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1503G>C (p.Gly501=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752841] Chr3:50377780 [GRCh38]
Chr3:50415211 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2696dup (p.His899fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003754222] Chr3:50366279..50366280 [GRCh38]
Chr3:50403710..50403711 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1845+10C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754699] Chr3:50375799 [GRCh38]
Chr3:50413230 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.842+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753029] Chr3:50380732 [GRCh38]
Chr3:50418163 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1480-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753063] Chr3:50377810 [GRCh38]
Chr3:50415241 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2589+13G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753064] Chr3:50366818 [GRCh38]
Chr3:50404249 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.652+8T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754803] Chr3:50384188 [GRCh38]
Chr3:50421619 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.861G>A (p.Ser287=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753583] Chr3:50380000 [GRCh38]
Chr3:50417431 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1905C>G (p.Tyr635Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754271] Chr3:50375646 [GRCh38]
Chr3:50413077 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1985-10_1985-5del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003754345] Chr3:50370385..50370390 [GRCh38]
Chr3:50407816..50407821 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2144-28CACCCC[3] microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003754349] Chr3:50367918..50367919 [GRCh38]
Chr3:50405349..50405350 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-18C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754747] Chr3:50370398 [GRCh38]
Chr3:50407829 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2143+16G>T single nucleotide variant Cerebellar atrophy with seizures and variable developmental delay [RCV003761194] Chr3:50368122 [GRCh38]
Chr3:50405553 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.510+15C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753699] Chr3:50387553 [GRCh38]
Chr3:50424984 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1774-19A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753435] Chr3:50375899 [GRCh38]
Chr3:50413330 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.2234+9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754493] Chr3:50367803 [GRCh38]
Chr3:50405234 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1380C>T (p.Ile460=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754386] Chr3:50378293 [GRCh38]
Chr3:50415724 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3174C>T (p.Cys1058=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753645] Chr3:50365109 [GRCh38]
Chr3:50402540 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1281C>A (p.Ser427=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003838029] Chr3:50378973 [GRCh38]
Chr3:50416404 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3381G>A (p.Leu1127=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003838175] Chr3:50364717 [GRCh38]
Chr3:50402148 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3291+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003856038] Chr3:50364872 [GRCh38]
Chr3:50402303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.511-19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753996] Chr3:50384356 [GRCh38]
Chr3:50421787 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.192C>T (p.Phe64=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754383] Chr3:50503232 [GRCh38]
Chr3:50540663 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1907+17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752642] Chr3:50375627 [GRCh38]
Chr3:50413058 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2496A>G (p.Pro832=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752759] Chr3:50367015 [GRCh38]
Chr3:50404446 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1584C>T (p.Asp528=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753815] Chr3:50377509 [GRCh38]
Chr3:50414940 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2638-13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752770] Chr3:50366351 [GRCh38]
Chr3:50403782 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1261-5C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752973] Chr3:50378998 [GRCh38]
Chr3:50416429 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.653-5C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003835000] Chr3:50381131 [GRCh38]
Chr3:50418562 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2990G>T (p.Gly997Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754157] Chr3:50365464 [GRCh38]
Chr3:50402895 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2235-18C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753805] Chr3:50367722 [GRCh38]
Chr3:50405153 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.409_413dup (p.Asp139fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003754416] Chr3:50394160..50394161 [GRCh38]
Chr3:50431591..50431592 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1146G>T (p.Leu382=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754568] Chr3:50379438 [GRCh38]
Chr3:50416869 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2666_2669dup (p.Phe891fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003754700] Chr3:50366306..50366307 [GRCh38]
Chr3:50403737..50403738 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1846-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753519] Chr3:50375721 [GRCh38]
Chr3:50413152 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3204G>A (p.Thr1068=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753966] Chr3:50365079 [GRCh38]
Chr3:50402510 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.465+11del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003753359] Chr3:50394098 [GRCh38]
Chr3:50431529 [GRCh37]
Chr3:3p21.31		 benign
NM_006030.4(CACNA2D2):c.406-5C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753579] Chr3:50394173 [GRCh38]
Chr3:50431604 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2144-4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003832031] Chr3:50367906 [GRCh38]
Chr3:50405337 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2589+17G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752610] Chr3:50366814 [GRCh38]
Chr3:50404245 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2972-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753979] Chr3:50365489 [GRCh38]
Chr3:50402920 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.652+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754032] Chr3:50384184 [GRCh38]
Chr3:50421615 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.96C>T (p.Gly32=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753930] Chr3:50503328 [GRCh38]
Chr3:50540759 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2234+19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753739] Chr3:50367793 [GRCh38]
Chr3:50405224 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3003G>C (p.Thr1001=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753571] Chr3:50365451 [GRCh38]
Chr3:50402882 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.150T>A (p.Leu50=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753943] Chr3:50503274 [GRCh38]
Chr3:50540705 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3208+15C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753972] Chr3:50365060 [GRCh38]
Chr3:50402491 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3189G>A (p.Leu1063=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753686] Chr3:50365094 [GRCh38]
Chr3:50402525 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2916-9G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752721] Chr3:50365697 [GRCh38]
Chr3:50403128 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2779C>G (p.Arg927Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753042] Chr3:50366094 [GRCh38]
Chr3:50403525 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.666C>G (p.Leu222=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754118] Chr3:50381113 [GRCh38]
Chr3:50418544 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.678C>T (p.Asn226=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752761] Chr3:50381101 [GRCh38]
Chr3:50418532 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2589+17G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752764] Chr3:50366814 [GRCh38]
Chr3:50404245 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.353del (p.Lys118fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003754474] Chr3:50434365 [GRCh38]
Chr3:50471796 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1907+11C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752853] Chr3:50375633 [GRCh38]
Chr3:50413064 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.136C>T (p.Leu46=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754488] Chr3:50503288 [GRCh38]
Chr3:50540719 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2085C>G (p.Thr695=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754357] Chr3:50368196 [GRCh38]
Chr3:50405627 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.543G>A (p.Gly181=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753022] Chr3:50384305 [GRCh38]
Chr3:50421736 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.42C>T (p.Gly14=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752669] Chr3:50503382 [GRCh38]
Chr3:50540813 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1387C>T (p.Gln463Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752675] Chr3:50378286 [GRCh38]
Chr3:50415717 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1552-5C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752720] Chr3:50377546 [GRCh38]
Chr3:50414977 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2868C>T (p.Thr956=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754537] Chr3:50365857 [GRCh38]
Chr3:50403288 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1339+20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754793] Chr3:50378895 [GRCh38]
Chr3:50416326 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2971+18G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754296] Chr3:50365615 [GRCh38]
Chr3:50403046 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2733G>A (p.Val911=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753081] Chr3:50366140 [GRCh38]
Chr3:50403571 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-18C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752955] Chr3:50370398 [GRCh38]
Chr3:50407829 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-13G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753000] Chr3:50370393 [GRCh38]
Chr3:50407824 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1985-7G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754608] Chr3:50370387 [GRCh38]
Chr3:50407818 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2234+19G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753033] Chr3:50367793 [GRCh38]
Chr3:50405224 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589152] Chr3:50379079 [GRCh38]
Chr3:50416510 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3291+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003864726] Chr3:50364868 [GRCh38]
Chr3:50402299 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3108C>T (p.His1036=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589828] Chr3:50365175 [GRCh38]
Chr3:50402606 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1390-9C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003848437] Chr3:50378106 [GRCh38]
Chr3:50415537 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.792G>A (p.Pro264=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590153] Chr3:50380798 [GRCh38]
Chr3:50418229 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1339+13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588536] Chr3:50378902 [GRCh38]
Chr3:50416333 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.72C>T (p.Gly24=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590143] Chr3:50503352 [GRCh38]
Chr3:50540783 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3387C>G (p.Pro1129=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589628] Chr3:50364711 [GRCh38]
Chr3:50402142 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.159G>A (p.Leu53=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590631] Chr3:50503265 [GRCh38]
Chr3:50540696 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.510+7A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590033] Chr3:50387561 [GRCh38]
Chr3:50424992 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3306C>T (p.Asp1102=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589360] Chr3:50364792 [GRCh38]
Chr3:50402223 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1837C>G (p.Leu613Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589472] Chr3:50375817 [GRCh38]
Chr3:50413248 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.3330G>A (p.Pro1110=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589173] Chr3:50364768 [GRCh38]
Chr3:50402199 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1260+19A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588534] Chr3:50379073 [GRCh38]
Chr3:50416504 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1773+8GAG[2] microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003844932] Chr3:50375947..50375949 [GRCh38]
Chr3:50413378..50413380 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3209-12A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589689] Chr3:50364982 [GRCh38]
Chr3:50402413 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3247C>T (p.Arg1083Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589990] Chr3:50364932 [GRCh38]
Chr3:50402363 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2590-8C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590224] Chr3:50366633 [GRCh38]
Chr3:50404064 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1269_1270del (p.Phe424fs) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003590222] Chr3:50378984..50378985 [GRCh38]
Chr3:50416415..50416416 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1837del (p.Leu613fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003590663] Chr3:50375817 [GRCh38]
Chr3:50413248 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.2590-15C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590950] Chr3:50366640 [GRCh38]
Chr3:50404071 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3210G>T (p.Ser1070=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589132] Chr3:50364969 [GRCh38]
Chr3:50402400 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.785-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589016] Chr3:50380825 [GRCh38]
Chr3:50418256 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1298_1299del (p.Asn432_Tyr433insTer) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003589308] Chr3:50378955..50378956 [GRCh38]
Chr3:50416386..50416387 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.1846-9C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003868411] Chr3:50375714 [GRCh38]
Chr3:50413145 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3209-20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003591108] Chr3:50364990 [GRCh38]
Chr3:50402421 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2637+1G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003591096] Chr3:50366577 [GRCh38]
Chr3:50404008 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_006030.4(CACNA2D2):c.1996del (p.Leu666fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003589711] Chr3:50370369 [GRCh38]
Chr3:50407800 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.267A>T (p.Gly89=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589930] Chr3:50476139 [GRCh38]
Chr3:50513570 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2862+15A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590297] Chr3:50365996 [GRCh38]
Chr3:50403427 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3209-13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590398] Chr3:50364983 [GRCh38]
Chr3:50402414 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2590-16A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590976] Chr3:50366641 [GRCh38]
Chr3:50404072 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1551+14A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003820498] Chr3:50377718 [GRCh38]
Chr3:50415149 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2637+13T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589307] Chr3:50366565 [GRCh38]
Chr3:50403996 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.3267C>T (p.His1089=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589320] Chr3:50364912 [GRCh38]
Chr3:50402343 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.207-6A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590960] Chr3:50476205 [GRCh38]
Chr3:50513636 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.785-12C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589637] Chr3:50380817 [GRCh38]
Chr3:50418248 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1984+9C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589696] Chr3:50374728 [GRCh38]
Chr3:50412159 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.618G>A (p.Ala206=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588204] Chr3:50384230 [GRCh38]
Chr3:50421661 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2637+4T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589723] Chr3:50366574 [GRCh38]
Chr3:50404005 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1984+17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588361] Chr3:50374720 [GRCh38]
Chr3:50412151 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1053C>A (p.Arg351=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003842180] Chr3:50379531 [GRCh38]
Chr3:50416962 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1907+16G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588360] Chr3:50375628 [GRCh38]
Chr3:50413059 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2590-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588381] Chr3:50366645 [GRCh38]
Chr3:50404076 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.466-20G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589927] Chr3:50387632 [GRCh38]
Chr3:50425063 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.153A>G (p.Leu51=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003846795] Chr3:50503271 [GRCh38]
Chr3:50540702 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.82del (p.His28fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003858374] Chr3:50503342 [GRCh38]
Chr3:50540773 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.3106del (p.His1036fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003590154] Chr3:50365177 [GRCh38]
Chr3:50402608 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_006030.4(CACNA2D2):c.309C>T (p.Asn103=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588328] Chr3:50434409 [GRCh38]
Chr3:50471840 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.363G>A (p.Gly121=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588950] Chr3:50434355 [GRCh38]
Chr3:50471786 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.1804G>A (p.Gly602Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588970] Chr3:50375850 [GRCh38]
Chr3:50413281 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.2915+13C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590211] Chr3:50365797 [GRCh38]
Chr3:50403228 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.554G>C (p.Ser185Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590412] Chr3:50384294 [GRCh38]
Chr3:50421725 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_006030.4(CACNA2D2):c.1635C>T (p.Ala545=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589003] Chr3:50376180 [GRCh38]
Chr3:50413611 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.2971+15G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589148] Chr3:50365618 [GRCh38]
Chr3:50403049 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.30C>T (p.Ala10=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589124] Chr3:50503394 [GRCh38]
Chr3:50540825 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.321A>G (p.Val107=) single nucleotide variant CACNA2D2-related condition [RCV003941792] Chr3:50434397 [GRCh38]
Chr3:50471828 [GRCh37]
Chr3:3p21.31		 likely benign
NM_006030.4(CACNA2D2):c.666C>T (p.Leu222=) single nucleotide variant CACNA2D2-related condition [RCV003946807] Chr3:50381113 [GRCh38]
Chr3:50418544 [GRCh37]
Chr3:3p21.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9756
Count of miRNA genes:896
Interacting mature miRNAs:1086
Transcripts:ENST00000266039, ENST00000360963, ENST00000395083, ENST00000423994, ENST00000424201, ENST00000429770, ENST00000435965, ENST00000479441, ENST00000483620, ENST00000487413
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
D3S1568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,505,744 - 50,506,031UniSTSGRCh37
GRCh37350,505,789 - 50,505,904UniSTSGRCh37
Build 36350,480,748 - 50,481,035RGDNCBI36
Celera350,478,619 - 50,478,738UniSTS
Celera350,478,574 - 50,478,865RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,561,499 - 50,561,606UniSTS
HuRef350,561,454 - 50,561,733UniSTS
Marshfield Genetic Map370.61UniSTS
Marshfield Genetic Map370.61RGD
Genethon Genetic Map367.7UniSTS
TNG Radiation Hybrid Map331538.0UniSTS
deCODE Assembly Map370.89UniSTS
RH80071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,452,400 - 50,452,629UniSTSGRCh37
Build 36350,427,404 - 50,427,633RGDNCBI36
Celera350,425,228 - 50,425,457RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,508,114 - 50,508,343UniSTS
GeneMap99-GB4 RH Map3158.18UniSTS
PMC22669P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,525,571 - 50,526,094UniSTSGRCh37
Build 36350,500,575 - 50,501,098RGDNCBI36
Celera350,498,403 - 50,498,926RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,581,610 - 50,582,133UniSTS
PMC22669P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,505,699 - 50,505,973UniSTSGRCh37
Build 36350,480,703 - 50,480,977RGDNCBI36
Celera350,478,529 - 50,478,807RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,561,409 - 50,561,675UniSTS
PMC22669P12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,503,631 - 50,503,756UniSTSGRCh37
Build 36350,478,635 - 50,478,760RGDNCBI36
Celera350,476,461 - 50,476,586RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,559,341 - 50,559,466UniSTS
PMC22669P13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,499,485 - 50,499,964UniSTSGRCh37
Build 36350,474,489 - 50,474,968RGDNCBI36
Celera350,472,315 - 50,472,794RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,555,198 - 50,555,674UniSTS
PMC22669P14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,400,828 - 50,401,005UniSTSGRCh37
Build 36350,375,832 - 50,376,009RGDNCBI36
Celera350,373,659 - 50,373,836RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,456,429 - 50,456,606UniSTS
PMC22669P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,525,435 - 50,525,910UniSTSGRCh37
Build 36350,500,439 - 50,500,914RGDNCBI36
Celera350,498,267 - 50,498,742RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,581,474 - 50,581,949UniSTS
PMC22669P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,526,961 - 50,527,190UniSTSGRCh37
Build 36350,501,965 - 50,502,194RGDNCBI36
Celera350,499,793 - 50,500,022RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,583,000 - 50,583,229UniSTS
CACNA2D2_1675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,400,061 - 50,400,871UniSTSGRCh37
Build 36350,375,065 - 50,375,875RGDNCBI36
Celera350,372,892 - 50,373,702RGD
HuRef350,455,662 - 50,456,472UniSTS
A006W17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,402,844 - 50,403,021UniSTSGRCh37
Build 36350,377,848 - 50,378,025RGDNCBI36
Celera350,375,675 - 50,375,852RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,458,445 - 50,458,622UniSTS
GeneMap99-GB4 RH Map3160.69UniSTS
NCBI RH Map3494.1UniSTS
RH47509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,405,463 - 50,405,585UniSTSGRCh37
Build 36350,380,467 - 50,380,589RGDNCBI36
Celera350,378,294 - 50,378,416RGD
Cytogenetic Map3p21.3UniSTS
HuRef350,461,110 - 50,461,232UniSTS
GeneMap99-GB4 RH Map3159.8UniSTS
D3S1568  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.3UniSTS
TNG Radiation Hybrid Map331538.0UniSTS


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 pharyngeal arch
High
Medium 17 196 254 29 186 6 1220 28 409 620 1
Low 2350 2413 993 281 1076 119 4034 2030 2443 301 980 912 168 1 1191 2738 1 1
Below cutoff 67 379 471 338 726 341 122 152 64 80 62 67 5 13 49 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF042792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF042793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW451435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW952467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF373910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA760583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z75742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z75743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000266039   ⟹   ENSP00000266039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,362,802 - 50,503,597 (-)Ensembl
RefSeq Acc Id: ENST00000360963   ⟹   ENSP00000354228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,362,802 - 50,504,244 (-)Ensembl
RefSeq Acc Id: ENST00000423994   ⟹   ENSP00000407393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,362,799 - 50,503,423 (-)Ensembl
RefSeq Acc Id: ENST00000424201   ⟹   ENSP00000390329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,362,613 - 50,503,634 (-)Ensembl
RefSeq Acc Id: ENST00000429770   ⟹   ENSP00000404631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,362,802 - 50,503,428 (-)Ensembl
RefSeq Acc Id: ENST00000479441   ⟹   ENSP00000418081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,364,666 - 50,503,423 (-)Ensembl
RefSeq Acc Id: ENST00000483620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,362,855 - 50,365,782 (-)Ensembl
RefSeq Acc Id: ENST00000487413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl350,415,803 - 50,503,634 (-)Ensembl
RefSeq Acc Id: NM_001005505   ⟹   NP_001005505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,362,613 - 50,503,634 (-)NCBI
GRCh37350,400,230 - 50,540,892 (-)ENTREZGENE
Build 36350,375,234 - 50,515,896 (-)NCBI Archive
HuRef350,455,831 - 50,596,932 (-)ENTREZGENE
CHM1_1350,352,319 - 50,493,258 (-)NCBI
T2T-CHM13v2.0350,392,335 - 50,533,535 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001174051   ⟹   NP_001167522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,362,613 - 50,503,634 (-)NCBI
GRCh37350,400,230 - 50,540,892 (-)ENTREZGENE
HuRef350,455,831 - 50,596,932 (-)ENTREZGENE
CHM1_1350,352,319 - 50,493,258 (-)NCBI
T2T-CHM13v2.0350,392,335 - 50,533,535 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001291101   ⟹   NP_001278030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,362,613 - 50,504,244 (-)NCBI
CHM1_1350,352,319 - 50,493,905 (-)NCBI
T2T-CHM13v2.0350,392,335 - 50,534,145 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410768   ⟹   NP_001397697
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,362,613 - 50,503,634 (-)NCBI
T2T-CHM13v2.0350,392,335 - 50,533,535 (-)NCBI
RefSeq Acc Id: NM_006030   ⟹   NP_006021
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,362,613 - 50,503,634 (-)NCBI
GRCh37350,400,230 - 50,540,892 (-)ENTREZGENE
Build 36350,375,234 - 50,515,896 (-)NCBI Archive
HuRef350,455,831 - 50,596,932 (-)ENTREZGENE
CHM1_1350,352,319 - 50,493,258 (-)NCBI
T2T-CHM13v2.0350,392,335 - 50,533,535 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534243   ⟹   XP_011532545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,362,613 - 50,503,634 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054348438   ⟹   XP_054204413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0350,392,335 - 50,533,535 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001005505   ⟸   NM_001005505
- Peptide Label: isoform a precursor
- UniProtKB: C9JVC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006021   ⟸   NM_006030
- Peptide Label: isoform b precursor
- UniProtKB: C9JVC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001167522   ⟸   NM_001174051
- Peptide Label: isoform c precursor
- UniProtKB: Q9UEW0 (UniProtKB/Swiss-Prot),   Q9NY48 (UniProtKB/Swiss-Prot),   A7MD15 (UniProtKB/Swiss-Prot),   Q9Y268 (UniProtKB/Swiss-Prot),   Q9NY47 (UniProtKB/Swiss-Prot),   C9JVC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278030   ⟸   NM_001291101
- Peptide Label: isoform d
- UniProtKB: C9JVC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532545   ⟸   XM_011534243
- Peptide Label: isoform X1
- UniProtKB: C9JVC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000407393   ⟸   ENST00000423994
RefSeq Acc Id: ENSP00000266039   ⟸   ENST00000266039
RefSeq Acc Id: ENSP00000390329   ⟸   ENST00000424201
RefSeq Acc Id: ENSP00000418081   ⟸   ENST00000479441
RefSeq Acc Id: ENSP00000354228   ⟸   ENST00000360963
RefSeq Acc Id: ENSP00000404631   ⟸   ENST00000429770
RefSeq Acc Id: NP_001397697   ⟸   NM_001410768
- Peptide Label: isoform e precursor
- UniProtKB: C9JE82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204413   ⟸   XM_054348438
- Peptide Label: isoform X1
Protein Domains
Cache   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY47-F1-model_v2 AlphaFold Q9NY47 1-1150 view protein structure

Promoters
RGD ID:6801209
Promoter ID:HG_KWN:45144
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:UC003DAO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36350,377,579 - 50,378,079 (-)MPROMDB
RGD ID:6864534
Promoter ID:EPDNEW_H5432
Type:initiation region
Name:CACNA2D2_2
Description:calcium voltage-gated channel auxiliary subunit alpha2delta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5433  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,503,403 - 50,503,463EPDNEW
RGD ID:6864536
Promoter ID:EPDNEW_H5433
Type:initiation region
Name:CACNA2D2_1
Description:calcium voltage-gated channel auxiliary subunit alpha2delta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5432  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,503,634 - 50,503,694EPDNEW
RGD ID:6800713
Promoter ID:HG_KWN:45146
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562
Transcripts:ENST00000266039,   ENST00000395083,   NM_001005505,   OTTHUMT00000346456,   OTTHUMT00000346459,   OTTHUMT00000346460,   UC003DAQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36350,515,829 - 50,516,329 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1400 AgrOrtholog
COSMIC CACNA2D2 COSMIC
Ensembl Genes ENSG00000007402 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000266039 ENTREZGENE
  ENST00000266039.7 UniProtKB/Swiss-Prot
  ENST00000360963 ENTREZGENE
  ENST00000360963.7 UniProtKB/Swiss-Prot
  ENST00000423994 ENTREZGENE
  ENST00000423994.6 UniProtKB/TrEMBL
  ENST00000424201 ENTREZGENE
  ENST00000424201.7 UniProtKB/Swiss-Prot
  ENST00000429770 ENTREZGENE
  ENST00000429770.5 UniProtKB/TrEMBL
  ENST00000479441 ENTREZGENE
  ENST00000479441.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000007402 GTEx
HGNC ID HGNC:1400 ENTREZGENE
Human Proteome Map CACNA2D2 Human Proteome Map
InterPro VDCC_a2/dsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9254 UniProtKB/Swiss-Prot
NCBI Gene 9254 ENTREZGENE
OMIM 607082 OMIM
PANTHER VOLTAGE-DEPENDENT CALCIUM CHANNEL SUBUNIT ALPHA-2/DELTA-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-DEPENDENT CALCIUM CHANNEL SUBUNIT ALPHA-2/DELTA-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam VGCC_alpha2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26012 PharmGKB
PROSITE VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7MD15 ENTREZGENE
  C9JE82 ENTREZGENE, UniProtKB/TrEMBL
  C9JVC9 ENTREZGENE, UniProtKB/TrEMBL
  CA2D2_HUMAN UniProtKB/Swiss-Prot
  L0R6E1_HUMAN UniProtKB/TrEMBL
  Q9NY47 ENTREZGENE
  Q9NY48 ENTREZGENE
  Q9UEW0 ENTREZGENE
  Q9Y268 ENTREZGENE
UniProt Secondary A7MD15 UniProtKB/Swiss-Prot
  Q9NY48 UniProtKB/Swiss-Prot
  Q9UEW0 UniProtKB/Swiss-Prot
  Q9Y268 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA2D2  calcium voltage-gated channel auxiliary subunit alpha2delta 2  CACNA2D2  calcium channel, voltage-dependent, alpha 2/delta subunit 2  Symbol and/or name change 5135510 APPROVED