SCN3A (sodium voltage-gated channel alpha subunit 3) - Rat Genome Database

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Gene: SCN3A (sodium voltage-gated channel alpha subunit 3) Homo sapiens
Analyze
Symbol: SCN3A
Name: sodium voltage-gated channel alpha subunit 3
RGD ID: 736601
HGNC Page HGNC
Description: Predicted to enable voltage-gated sodium channel activity. Predicted to be involved in membrane depolarization during action potential; neuronal action potential; and sodium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Implicated in developmental and epileptic encephalopathy 62 and focal epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: brain III voltage-gated sodium channel; DEE62; EIEE62; FFEVF4; KIAA1356; NAC3; Nav1.3; sodium channel protein brain III subunit alpha; sodium channel protein type 3 subunit alpha; sodium channel protein type III subunit alpha; sodium channel, voltage gated, type III alpha subunit; sodium channel, voltage-gated, type III, alpha polypeptide; sodium channel, voltage-gated, type III, alpha subunit; voltage-gated sodium channel subtype III; voltage-gated sodium channel subunit alpha Nav1.3
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
GRCh38.p13 Ensembl2165,087,526 - 165,204,050 (-)EnsemblGRCh38hg38GRCh38
GRCh382165,087,526 - 165,204,295 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372165,944,036 - 166,060,560 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362165,652,276 - 165,768,823 (-)NCBINCBI36hg18NCBI36
Build 342165,769,546 - 165,886,060NCBI
Celera2159,554,632 - 159,671,179 (-)NCBI
Cytogenetic Map2q24.3NCBI
HuRef2157,826,522 - 157,942,999 (-)NCBIHuRef
CHM1_12165,949,962 - 166,066,539 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Childhood onset  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonus  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Polymicrogyria  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

Additional References at PubMed
PMID:8159690   PMID:8889548   PMID:9589372   PMID:10718198   PMID:10827173   PMID:11122339   PMID:11245985   PMID:11566500   PMID:12610651   PMID:15317864   PMID:15548568   PMID:16029190  
PMID:16052353   PMID:16344560   PMID:16382098   PMID:17544618   PMID:18784617   PMID:19699781   PMID:20346423   PMID:20379614   PMID:20395553   PMID:21873635   PMID:22494998   PMID:23016767  
PMID:23333304   PMID:23859570   PMID:23965409   PMID:24157691   PMID:24337656   PMID:26638075   PMID:27072680   PMID:27153334   PMID:28235671   PMID:29466837   PMID:29578003   PMID:29676528  
PMID:29845934   PMID:30021884   PMID:30146301   PMID:30993766   PMID:32120844   PMID:32515017   PMID:34081427  


Genomics

Comparative Map Data
SCN3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2165,087,526 - 165,204,050 (-)EnsemblGRCh38hg38GRCh38
GRCh382165,087,526 - 165,204,295 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372165,944,036 - 166,060,560 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362165,652,276 - 165,768,823 (-)NCBINCBI36hg18NCBI36
Build 342165,769,546 - 165,886,060NCBI
Celera2159,554,632 - 159,671,179 (-)NCBI
Cytogenetic Map2q24.3NCBI
HuRef2157,826,522 - 157,942,999 (-)NCBIHuRef
CHM1_12165,949,962 - 166,066,539 (-)NCBICHM1_1
Scn3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39265,287,462 - 65,397,935 (-)NCBIGRCm39mm39
GRCm39 Ensembl265,287,462 - 65,397,971 (-)Ensembl
GRCm38265,457,118 - 65,567,591 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl265,457,118 - 65,567,627 (-)EnsemblGRCm38mm10GRCm38
MGSCv37265,295,175 - 65,405,549 (-)NCBIGRCm37mm9NCBIm37
MGSCv36265,260,704 - 65,368,333 (-)NCBImm8
Celera267,134,509 - 67,244,961 (-)NCBICelera
Cytogenetic Map2C1.3NCBI
cM Map238.55NCBI
Scn3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2350,146,411 - 50,258,119 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl351,532,627 - 51,643,140 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0351,530,897 - 51,643,140 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0358,165,763 - 58,277,870 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4347,501,895 - 47,512,863NCBIRGSC3.4rn4RGSC3.4
Celera349,742,093 - 49,851,946 (-)NCBICelera
RH 3.4 Map3 RGD
Cytogenetic Map3q21NCBI
Scn3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554498,896,454 - 9,009,304 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554498,896,454 - 9,009,304 (+)NCBIChiLan1.0ChiLan1.0
SCN3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B169,722,134 - 169,838,590 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B169,722,134 - 169,838,590 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B52,363,020 - 52,479,818 (-)NCBIMhudiblu_PPA_v0panPan3
SCN3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13610,300,091 - 10,405,361 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3610,302,191 - 10,377,923 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3610,443,366 - 10,548,111 (-)NCBI
ROS_Cfam_1.03610,431,868 - 10,536,904 (-)NCBI
UMICH_Zoey_3.13610,504,943 - 10,609,699 (-)NCBI
UNSW_CanFamBas_1.03610,485,818 - 10,590,745 (-)NCBI
UU_Cfam_GSD_1.03610,598,953 - 10,703,719 (-)NCBI
Scn3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303127,437,094 - 127,545,534 (-)NCBI
SpeTri2.0NW_00493646914,072,182 - 14,180,552 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCN3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1571,717,334 - 71,824,160 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11571,717,330 - 71,824,190 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21580,183,966 - 80,256,583 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SCN3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11050,563,560 - 50,679,179 (-)NCBI
ChlSab1.1 Ensembl1050,563,568 - 50,637,179 (-)Ensembl
Vero_WHO_p1.0NW_023666040148,830,543 - 148,945,804 (+)NCBI
Scn3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624732222,657 - 330,959 (+)NCBI

Position Markers
D2S382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,967,958 - 165,968,125UniSTSGRCh37
Build 362165,676,204 - 165,676,371RGDNCBI36
Celera2159,578,560 - 159,578,727RGD
Cytogenetic Map2qUniSTS
Cytogenetic Map2q24UniSTS
HuRef2157,850,397 - 157,850,558UniSTS
Marshfield Genetic Map2169.41UniSTS
Marshfield Genetic Map2169.41RGD
Genethon Genetic Map2174.9UniSTS
deCODE Assembly Map2171.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH79252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,944,341 - 165,944,484UniSTSGRCh37
Build 362165,652,587 - 165,652,730RGDNCBI36
Celera2159,554,943 - 159,555,086RGD
Cytogenetic Map2q24UniSTS
HuRef2157,826,833 - 157,826,976UniSTS
RH17907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,953,772 - 165,953,951UniSTSGRCh37
Build 362165,662,018 - 165,662,197RGDNCBI36
Celera2159,564,374 - 159,564,553RGD
Cytogenetic Map2q24UniSTS
HuRef2157,836,264 - 157,836,443UniSTS
GeneMap99-GB4 RH Map2544.47UniSTS
WI-15259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,047,611 - 166,047,736UniSTSGRCh37
Build 362165,755,857 - 165,755,982RGDNCBI36
Celera2159,658,213 - 159,658,338RGD
Cytogenetic Map2q24UniSTS
HuRef2157,930,033 - 157,930,158UniSTS
GeneMap99-GB4 RH Map2543.0UniSTS
Whitehead-RH Map2822.2UniSTS
NCBI RH Map21257.2UniSTS
G16466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,023,751 - 166,023,844UniSTSGRCh37
Build 362165,731,997 - 165,732,090RGDNCBI36
Celera2159,634,359 - 159,634,452RGD
Cytogenetic Map2q24UniSTS
HuRef2157,906,175 - 157,906,268UniSTS
SCN3A_3454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,943,909 - 165,944,688UniSTSGRCh37
Build 362165,652,155 - 165,652,934RGDNCBI36
Celera2159,554,511 - 159,555,290RGD
HuRef2157,826,401 - 157,827,180UniSTS
Scn1a  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,947,633 - 165,948,956UniSTSGRCh37
Celera2159,558,235 - 159,559,558UniSTS
HuRef2157,830,125 - 157,831,448UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2590
Count of miRNA genes:871
Interacting mature miRNAs:1012
Transcripts:ENST00000283254, ENST00000360093, ENST00000409101, ENST00000440431, ENST00000453007, ENST00000465043, ENST00000471697, ENST00000484898, ENST00000540861
Prediction methods: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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 3 5 58 4 23 4 6 6 638 7 4 50 1 4
Low 1698 1624 955 63 500 11 2413 1198 3023 190 826 872 56 1 1116 1676 1
Below cutoff 632 1317 589 453 1062 345 1772 969 65 137 500 548 110 87 1108 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF225986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF225987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF239921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA772987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA796981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ993536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ993537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ993538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000283254   ⟹   ENSP00000283254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,087,526 - 165,204,050 (-)Ensembl
RefSeq Acc Id: ENST00000360093   ⟹   ENSP00000353206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,087,522 - 165,204,067 (-)Ensembl
RefSeq Acc Id: ENST00000409101   ⟹   ENSP00000386726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,089,718 - 165,203,886 (-)Ensembl
RefSeq Acc Id: ENST00000440431   ⟹   ENSP00000403348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,097,252 - 165,186,554 (-)Ensembl
RefSeq Acc Id: ENST00000453007   ⟹   ENSP00000391569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,164,393 - 165,204,050 (-)Ensembl
RefSeq Acc Id: ENST00000465043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,092,256 - 165,093,828 (-)Ensembl
RefSeq Acc Id: ENST00000471697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,095,511 - 165,097,614 (-)Ensembl
RefSeq Acc Id: ENST00000638473   ⟹   ENSP00000491552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,087,542 - 165,186,747 (-)Ensembl
RefSeq Acc Id: ENST00000639244   ⟹   ENSP00000492251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,087,542 - 165,203,881 (-)Ensembl
RefSeq Acc Id: ENST00000640652   ⟹   ENSP00000492807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,087,530 - 165,186,620 (-)Ensembl
RefSeq Acc Id: ENST00000658209   ⟹   ENSP00000499598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,088,822 - 165,140,818 (-)Ensembl
RefSeq Acc Id: ENST00000668657   ⟹   ENSP00000499420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,121,047 - 165,203,891 (-)Ensembl
RefSeq Acc Id: NM_001081676   ⟹   NP_001075145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
GRCh372165,944,030 - 166,060,577 (-)ENTREZGENE
Build 362165,652,276 - 165,768,823 (-)NCBI Archive
HuRef2157,826,522 - 157,942,999 (-)ENTREZGENE
CHM1_12165,949,962 - 166,066,539 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001081677   ⟹   NP_001075146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
GRCh372165,944,030 - 166,060,577 (-)ENTREZGENE
Build 362165,652,276 - 165,768,823 (-)NCBI Archive
HuRef2157,826,522 - 157,942,999 (-)ENTREZGENE
CHM1_12165,949,962 - 166,066,539 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006922   ⟹   NP_008853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
GRCh372165,944,030 - 166,060,577 (-)ENTREZGENE
Build 362165,652,276 - 165,768,823 (-)NCBI Archive
HuRef2157,826,522 - 157,942,999 (-)ENTREZGENE
CHM1_12165,949,962 - 166,066,539 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511610   ⟹   XP_011509912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,528 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511613   ⟹   XP_011509915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,528 - 165,204,295 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004660   ⟹   XP_016860149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,528 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004661   ⟹   XP_016860150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,528 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004662   ⟹   XP_016860151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,528 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004663   ⟹   XP_016860152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,528 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004664   ⟹   XP_016860153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,121,065 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004665   ⟹   XP_016860154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,121,065 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004666   ⟹   XP_016860155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,121,065 - 165,204,050 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001075145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001075146 (Get FASTA)   NCBI Sequence Viewer  
  NP_008853 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509912 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509915 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860149 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860150 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860151 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860152 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860153 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860154 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860155 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB30530 (Get FASTA)   NCBI Sequence Viewer  
  AAC29514 (Get FASTA)   NCBI Sequence Viewer  
  AAC29515 (Get FASTA)   NCBI Sequence Viewer  
  AAF44690 (Get FASTA)   NCBI Sequence Viewer  
  AAG53414 (Get FASTA)   NCBI Sequence Viewer  
  AAG53415 (Get FASTA)   NCBI Sequence Viewer  
  AAK00218 (Get FASTA)   NCBI Sequence Viewer  
  AAK00219 (Get FASTA)   NCBI Sequence Viewer  
  AAY15072 (Get FASTA)   NCBI Sequence Viewer  
  BAA92594 (Get FASTA)   NCBI Sequence Viewer  
  BAG61646 (Get FASTA)   NCBI Sequence Viewer  
  BAG63295 (Get FASTA)   NCBI Sequence Viewer  
  CAB85895 (Get FASTA)   NCBI Sequence Viewer  
  CAC03582 (Get FASTA)   NCBI Sequence Viewer  
  CAC03583 (Get FASTA)   NCBI Sequence Viewer  
  CAC03586 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43381 (Get FASTA)   NCBI Sequence Viewer  
  EAX11331 (Get FASTA)   NCBI Sequence Viewer  
  EAX11332 (Get FASTA)   NCBI Sequence Viewer  
  EAX11333 (Get FASTA)   NCBI Sequence Viewer  
  EAX11334 (Get FASTA)   NCBI Sequence Viewer  
  EAX11335 (Get FASTA)   NCBI Sequence Viewer  
  Q9NY46 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001075145   ⟸   NM_001081676
- Peptide Label: isoform 2
- UniProtKB: Q9NY46 (UniProtKB/Swiss-Prot),   Q9C007 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_008853   ⟸   NM_006922
- Peptide Label: isoform 1
- UniProtKB: Q9NY46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001075146   ⟸   NM_001081677
- Peptide Label: isoform 3
- UniProtKB: Q9NY46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509912   ⟸   XM_011511610
- Peptide Label: isoform X1
- UniProtKB: Q9NY46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509915   ⟸   XM_011511613
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016860151   ⟸   XM_017004662
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016860150   ⟸   XM_017004661
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016860149   ⟸   XM_017004660
- Peptide Label: isoform X2
- UniProtKB: Q9NY46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860152   ⟸   XM_017004663
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016860155   ⟸   XM_017004666
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016860154   ⟸   XM_017004665
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016860153   ⟸   XM_017004664
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000353206   ⟸   ENST00000360093
RefSeq Acc Id: ENSP00000491552   ⟸   ENST00000638473
RefSeq Acc Id: ENSP00000391569   ⟸   ENST00000453007
RefSeq Acc Id: ENSP00000492251   ⟸   ENST00000639244
RefSeq Acc Id: ENSP00000283254   ⟸   ENST00000283254
RefSeq Acc Id: ENSP00000403348   ⟸   ENST00000440431
RefSeq Acc Id: ENSP00000499420   ⟸   ENST00000668657
RefSeq Acc Id: ENSP00000492807   ⟸   ENST00000640652
RefSeq Acc Id: ENSP00000499598   ⟸   ENST00000658209
RefSeq Acc Id: ENSP00000386726   ⟸   ENST00000409101
Protein Domains
Ion_trans   IQ   Na_trans_assoc   Na_trans_cytopl

Promoters
RGD ID:6861908
Promoter ID:EPDNEW_H4119
Type:single initiation site
Name:SCN3A_3
Description:sodium voltage-gated channel alpha subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4120  EPDNEW_H4121  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,196,534 - 165,196,594EPDNEW
RGD ID:6861910
Promoter ID:EPDNEW_H4120
Type:initiation region
Name:SCN3A_2
Description:sodium voltage-gated channel alpha subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4119  EPDNEW_H4121  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,203,880 - 165,203,940EPDNEW
RGD ID:6861914
Promoter ID:EPDNEW_H4121
Type:initiation region
Name:SCN3A_1
Description:sodium voltage-gated channel alpha subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4119  EPDNEW_H4120  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,204,050 - 165,204,110EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) single nucleotide variant not provided [RCV000861521]|not specified [RCV000729896] Chr2:165137966 [GRCh38]
Chr2:165994476 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) single nucleotide variant not provided [RCV000729432] Chr2:165127937 [GRCh38]
Chr2:165984447 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 copy number loss See cases [RCV000051003] Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 copy number loss See cases [RCV000054119] Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
NM_001081676.1(SCN3A):c.2547G>A (p.Val849=) single nucleotide variant Malignant melanoma [RCV000060369] Chr2:165130168 [GRCh38]
Chr2:165986678 [GRCh37]
Chr2:165694924 [NCBI36]
Chr2:2q24.3
not provided
NM_001081676.1(SCN3A):c.1119C>T (p.Phe373=) single nucleotide variant Malignant melanoma [RCV000060370] Chr2:165155816 [GRCh38]
Chr2:166012326 [GRCh37]
Chr2:165720572 [NCBI36]
Chr2:2q24.3
not provided
NM_001081676.1(SCN3A):c.4620G>A (p.Trp1540Ter) single nucleotide variant Malignant melanoma [RCV000065147] Chr2:165092294 [GRCh38]
Chr2:165948804 [GRCh37]
Chr2:165657050 [NCBI36]
Chr2:2q24.3
not provided
NM_001081676.1(SCN3A):c.2892G>A (p.Lys964=) single nucleotide variant Malignant melanoma [RCV000065148] Chr2:165127985 [GRCh38]
Chr2:165984495 [GRCh37]
Chr2:165692741 [NCBI36]
Chr2:2q24.3
not provided
NM_001081676.1(SCN3A):c.2262C>T (p.Phe754=) single nucleotide variant Malignant melanoma [RCV000065149] Chr2:165131400 [GRCh38]
Chr2:165987910 [GRCh37]
Chr2:165696156 [NCBI36]
Chr2:2q24.3
not provided
NM_001081676.1(SCN3A):c.225G>A (p.Glu75=) single nucleotide variant Malignant melanoma [RCV000065150] Chr2:165176170 [GRCh38]
Chr2:166032680 [GRCh37]
Chr2:165740926 [NCBI36]
Chr2:2q24.3
not provided
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) deletion not provided [RCV000713079]|not specified [RCV000081469] Chr2:165176266..165176268 [GRCh38]
Chr2:166032776..166032778 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) single nucleotide variant not provided [RCV001513085]|not specified [RCV000081470] Chr2:165146969 [GRCh38]
Chr2:166003479 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5006_5007del (p.Tyr1669fs) deletion not provided [RCV001294267] Chr2:165091146..165091147 [GRCh38]
Chr2:165947656..165947657 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) single nucleotide variant not provided [RCV000857921]|not specified [RCV000175322] Chr2:165127774 [GRCh38]
Chr2:165984284 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006922.4(SCN3A):c.2118G>A (p.Val706=) single nucleotide variant not provided [RCV000858446]|not specified [RCV000174760] Chr2:165139510 [GRCh38]
Chr2:165996020 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.665G>A (p.Arg222Gln) single nucleotide variant not provided [RCV001348040] Chr2:165163647 [GRCh38]
Chr2:166020157 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5629A>T (p.Arg1877Trp) single nucleotide variant not provided [RCV001302508] Chr2:165090524 [GRCh38]
Chr2:165947034 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.171T>C (p.Ala57=) single nucleotide variant not provided [RCV000713080]|not specified [RCV000177265] Chr2:165176224 [GRCh38]
Chr2:166032734 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.1318C>T (p.Gln440Ter) single nucleotide variant Inborn genetic diseases [RCV000190774] Chr2:165154514 [GRCh38]
Chr2:166011024 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_006922.4(SCN3A):c.1051A>T (p.Ile351Phe) single nucleotide variant not provided [RCV001348710] Chr2:165155884 [GRCh38]
Chr2:166012394 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe) single nucleotide variant not provided [RCV000858470]|not specified [RCV000174357] Chr2:165146791 [GRCh38]
Chr2:166003301 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000764275]|not provided [RCV000724702] Chr2:165140667 [GRCh38]
Chr2:165997177 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.1760T>C (p.Val587Ala) single nucleotide variant not provided [RCV000174563] Chr2:165140910 [GRCh38]
Chr2:165997420 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 copy number gain See cases [RCV000133953] Chr2:164920562..167536439 [GRCh38]
Chr2:165777072..168392949 [GRCh37]
Chr2:165485318..168101195 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1 copy number loss See cases [RCV000137581] Chr2:163419387..165682938 [GRCh38]
Chr2:164275897..166539448 [GRCh37]
Chr2:163984143..166247694 [NCBI36]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000764273]|not provided [RCV000175323] Chr2:165127771 [GRCh38]
Chr2:165984281 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3 copy number gain See cases [RCV000142015] Chr2:164941760..165764726 [GRCh38]
Chr2:165798270..166621236 [GRCh37]
Chr2:165506516..166329482 [NCBI36]
Chr2:2q24.3
likely pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) single nucleotide variant not provided [RCV001513084]|not specified [RCV000153905] Chr2:165131262 [GRCh38]
Chr2:165987772 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) single nucleotide variant not provided [RCV000723899] Chr2:165091254 [GRCh38]
Chr2:165947764 [GRCh37]
Chr2:2q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) single nucleotide variant not provided [RCV000153906] Chr2:165163670 [GRCh38]
Chr2:166020180 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) single nucleotide variant not provided [RCV000176310] Chr2:165100335 [GRCh38]
Chr2:165956845 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) single nucleotide variant not provided [RCV000178282] Chr2:165170518 [GRCh38]
Chr2:166027028 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5656G>A (p.Val1886Ile) single nucleotide variant not provided [RCV000228369] Chr2:165090497 [GRCh38]
Chr2:165947007 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.552G>A (p.Thr184=) single nucleotide variant not provided [RCV000713087] Chr2:165164442 [GRCh38]
Chr2:166020952 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2008C>T (p.Leu670Phe) single nucleotide variant not provided [RCV000229609] Chr2:165140662 [GRCh38]
Chr2:165997172 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4807+7A>G single nucleotide variant not provided [RCV000857863]|not specified [RCV000231067] Chr2:165092247 [GRCh38]
Chr2:165948757 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.3478G>A (p.Glu1160Lys) single nucleotide variant Inborn genetic diseases [RCV001266870]|not provided [RCV000233126] Chr2:165115491 [GRCh38]
Chr2:165972001 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) single nucleotide variant not provided [RCV000713082] Chr2:165170450 [GRCh38]
Chr2:166026960 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000764274]|not provided [RCV000233518] Chr2:165139607 [GRCh38]
Chr2:165996117 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5407G>A (p.Asp1803Asn) single nucleotide variant not provided [RCV000227630] Chr2:165090746 [GRCh38]
Chr2:165947256 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.4878C>T (p.Ala1626=) single nucleotide variant not provided [RCV000233870] Chr2:165091275 [GRCh38]
Chr2:165947785 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5584G>T (p.Gly1862Cys) single nucleotide variant not provided [RCV000234605] Chr2:165090569 [GRCh38]
Chr2:165947079 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV000625710]|not provided [RCV001239906] Chr2:165097377 [GRCh38]
Chr2:165953887 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) single nucleotide variant not provided [RCV000268751] Chr2:165127847 [GRCh38]
Chr2:165984357 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) single nucleotide variant not provided [RCV000387103] Chr2:165090328 [GRCh38]
Chr2:165946838 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=) single nucleotide variant not provided [RCV000387356] Chr2:165146802 [GRCh38]
Chr2:166003312 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.1381-4A>G single nucleotide variant not provided [RCV000316187] Chr2:165147033 [GRCh38]
Chr2:166003543 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) single nucleotide variant not provided [RCV000726179] Chr2:165090264 [GRCh38]
Chr2:165946774 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.1423A>C (p.Ile475Leu) single nucleotide variant not provided [RCV000397055] Chr2:165146987 [GRCh38]
Chr2:166003497 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5411C>T (p.Ala1804Val) single nucleotide variant not provided [RCV000334233] Chr2:165090742 [GRCh38]
Chr2:165947252 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) single nucleotide variant not provided [RCV000368157] Chr2:165090759 [GRCh38]
Chr2:165947269 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) single nucleotide variant not provided [RCV000403613] Chr2:165140897 [GRCh38]
Chr2:165997407 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) single nucleotide variant not provided [RCV000726413] Chr2:165090684 [GRCh38]
Chr2:165947194 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.5726G>A (p.Arg1909His) single nucleotide variant not provided [RCV001368356] Chr2:165090427 [GRCh38]
Chr2:165946937 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.984G>C (p.Leu328Phe) single nucleotide variant not provided [RCV001368061] Chr2:165162355 [GRCh38]
Chr2:166018865 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5591G>T (p.Ser1864Ile) single nucleotide variant not provided [RCV000489940] Chr2:165090562 [GRCh38]
Chr2:165947072 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) single nucleotide variant not provided [RCV000488966] Chr2:165140815 [GRCh38]
Chr2:165997325 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.474-4C>T single nucleotide variant not provided [RCV000597234] Chr2:165164524 [GRCh38]
Chr2:166021034 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro) single nucleotide variant atypical cerebral palsy [RCV000655959] Chr2:165163686 [GRCh38]
Chr2:166020196 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_006922.4(SCN3A):c.4239+2dup duplication not specified [RCV000599406] Chr2:165097249..165097250 [GRCh38]
Chr2:165953759..165953760 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) single nucleotide variant not provided [RCV000862437]|not specified [RCV000591201] Chr2:165090201 [GRCh38]
Chr2:165946711 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_006922.4(SCN3A):c.4481A>G (p.Asn1494Ser) single nucleotide variant not provided [RCV000731058] Chr2:165094429 [GRCh38]
Chr2:165950939 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4294-10T>C single nucleotide variant not provided [RCV000732135] Chr2:165095658 [GRCh38]
Chr2:165952168 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) single nucleotide variant not provided [RCV000732175] Chr2:165095607 [GRCh38]
Chr2:165952117 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.80A>C (p.Lys27Thr) single nucleotide variant not provided [RCV000733125] Chr2:165176315 [GRCh38]
Chr2:166032825 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000625712]|Epilepsy, familial focal, with variable foci 4 [RCV001199328]|Polymicrogyria [RCV000415038]|not provided [RCV000494116] Chr2:165130238 [GRCh38]
Chr2:165986748 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_006922.4(SCN3A):c.3844-19dup duplication not provided [RCV000733427] Chr2:165100434..165100435 [GRCh38]
Chr2:165956944..165956945 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) single nucleotide variant not provided [RCV000729431] Chr2:165139507 [GRCh38]
Chr2:165996017 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 copy number gain See cases [RCV000447420] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000625713]|not provided [RCV000420271] Chr2:165097493 [GRCh38]
Chr2:165954003 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.5425G>A (p.Glu1809Lys) single nucleotide variant not provided [RCV000462410] Chr2:165090728 [GRCh38]
Chr2:165947238 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3515-9G>T single nucleotide variant not provided [RCV000859245]|not specified [RCV000463849] Chr2:165113979 [GRCh38]
Chr2:165970489 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) single nucleotide variant not provided [RCV000464217] Chr2:165090495 [GRCh38]
Chr2:165947005 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.3989G>A (p.Gly1330Glu) single nucleotide variant not provided [RCV000465335] Chr2:165097502 [GRCh38]
Chr2:165954012 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1687C>T (p.Arg563Cys) single nucleotide variant not provided [RCV000465765] Chr2:165140983 [GRCh38]
Chr2:165997493 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_006922.4(SCN3A):c.4068G>A (p.Leu1356=) single nucleotide variant not provided [RCV000466182] Chr2:165097423 [GRCh38]
Chr2:165953933 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.791T>C (p.Ile264Thr) single nucleotide variant not provided [RCV001301323]|not specified [RCV000467521] Chr2:165162732 [GRCh38]
Chr2:166019242 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.135T>C (p.Asp45=) single nucleotide variant not provided [RCV000467798] Chr2:165176260 [GRCh38]
Chr2:166032770 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1842G>A (p.Pro614=) single nucleotide variant not provided [RCV000467988] Chr2:165140828 [GRCh38]
Chr2:165997338 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1595T>C (p.Val532Ala) single nucleotide variant not provided [RCV000468592] Chr2:165146815 [GRCh38]
Chr2:166003325 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5121C>A (p.Thr1707=) single nucleotide variant not provided [RCV000713085] Chr2:165091032 [GRCh38]
Chr2:165947542 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.3566G>A (p.Gly1189Glu) single nucleotide variant not provided [RCV001346335]|not specified [RCV000472535] Chr2:165113919 [GRCh38]
Chr2:165970429 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) single nucleotide variant not provided [RCV000713088] Chr2:165090483 [GRCh38]
Chr2:165946993 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=) single nucleotide variant not provided [RCV000473983] Chr2:165090921 [GRCh38]
Chr2:165947431 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.1330G>A (p.Glu444Lys) single nucleotide variant not provided [RCV000474538] Chr2:165154502 [GRCh38]
Chr2:166011012 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5859C>T (p.Ser1953=) single nucleotide variant not provided [RCV000474651] Chr2:165090294 [GRCh38]
Chr2:165946804 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2702T>C (p.Met901Thr) single nucleotide variant not provided [RCV000485963] Chr2:165130160 [GRCh38]
Chr2:165986670 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3966+8_3966+10del microsatellite not provided [RCV000475790] Chr2:165100292..165100294 [GRCh38]
Chr2:165956802..165956804 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5996A>C (p.Gln1999Pro) single nucleotide variant not provided [RCV001319232]|not specified [RCV000477114] Chr2:165090157 [GRCh38]
Chr2:165946667 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_006922.4(SCN3A):c.3495G>A (p.Pro1165=) single nucleotide variant not provided [RCV000456513] Chr2:165115474 [GRCh38]
Chr2:165971984 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1841C>T (p.Pro614Leu) single nucleotide variant not provided [RCV000458716] Chr2:165140829 [GRCh38]
Chr2:165997339 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4476T>C (p.Tyr1492=) single nucleotide variant not provided [RCV000713083] Chr2:165094434 [GRCh38]
Chr2:165950944 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5583G>T (p.Leu1861Phe) single nucleotide variant not provided [RCV001348265]|not specified [RCV000459134] Chr2:165090570 [GRCh38]
Chr2:165947080 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) single nucleotide variant not provided [RCV001372053]|not specified [RCV000459285] Chr2:165127792 [GRCh38]
Chr2:165984302 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4254C>T (p.Gly1418=) single nucleotide variant not provided [RCV000460211] Chr2:165096506 [GRCh38]
Chr2:165953016 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu) single nucleotide variant not provided [RCV000498890] Chr2:165097374 [GRCh38]
Chr2:165953884 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln) single nucleotide variant SCN3A- Related Disorder [RCV000509281]|not provided [RCV001299125] Chr2:165155875 [GRCh38]
Chr2:166012385 [GRCh37]
Chr2:2q24.3
uncertain significance|not provided
NM_006922.4(SCN3A):c.2411C>T (p.Thr804Ile) single nucleotide variant not provided [RCV000497382] Chr2:165131398 [GRCh38]
Chr2:165987908 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3874C>T (p.Leu1292Phe) single nucleotide variant not provided [RCV000497708] Chr2:165100394 [GRCh38]
Chr2:165956904 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln) single nucleotide variant not provided [RCV000498016] Chr2:165091291 [GRCh38]
Chr2:165947801 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_006922.4(SCN3A):c.3795A>C (p.Gln1265His) single nucleotide variant not provided [RCV000498148] Chr2:165112933 [GRCh38]
Chr2:165969443 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys) single nucleotide variant not provided [RCV000498159] Chr2:165090272 [GRCh38]
Chr2:165946782 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:165417233-166231299)x4 copy number gain See cases [RCV000511810] Chr2:165417233..166231299 [GRCh37]
Chr2:2q24.3
likely benign
GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 copy number loss See cases [RCV000511424] Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:165065255-166517749) copy number gain See cases [RCV000511060] Chr2:165065255..166517749 [GRCh37]
Chr2:2q24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 copy number loss See cases [RCV000511103] Chr2:166032047..168283204 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.(?_165090130)_(166228992_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Hereditary sensory and autonomic neuropathy type IIA [RCV001387895] Chr2:165090130..166228992 [GRCh38]
Chr2:165946640..167085502 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NC_000002.11:g.(?_165946640)_(166246354_?)dup duplication Seizures, benign familial infantile, 3 [RCV000640656] Chr2:165090130..165389844 [GRCh38]
Chr2:165946640..166246354 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) single nucleotide variant not provided [RCV000597395] Chr2:165090981 [GRCh38]
Chr2:165947491 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.3480AGA[1] (p.Glu1161del) microsatellite Inborn genetic diseases [RCV000622324] Chr2:165115484..165115486 [GRCh38]
Chr2:165971994..165971996 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.152C>T (p.Pro51Leu) single nucleotide variant Inborn genetic diseases [RCV000622653] Chr2:165176243 [GRCh38]
Chr2:166032753 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV000625711] Chr2:165162781 [GRCh38]
Chr2:166019291 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.95A>G (p.Glu32Gly) single nucleotide variant not provided [RCV000585164] Chr2:165176300 [GRCh38]
Chr2:166032810 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5441_5442del (p.Leu1813_Ser1814insTer) microsatellite not provided [RCV000627394] Chr2:165090711..165090712 [GRCh38]
Chr2:165947221..165947222 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000625714]|Inborn genetic diseases [RCV000622981] Chr2:165090847 [GRCh38]
Chr2:165947357 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV000625708]|not provided [RCV000819557] Chr2:165155865 [GRCh38]
Chr2:166012375 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV000625709] Chr2:165131366 [GRCh38]
Chr2:165987876 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=) single nucleotide variant not provided [RCV000596274] Chr2:165112984 [GRCh38]
Chr2:165969494 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 copy number loss not provided [RCV000585557] Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
NM_006922.4(SCN3A):c.4924C>T (p.Arg1642Cys) single nucleotide variant Inborn genetic diseases [RCV000624839] Chr2:165091229 [GRCh38]
Chr2:165947739 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=) single nucleotide variant not provided [RCV000713081] Chr2:165139597 [GRCh38]
Chr2:165996107 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val) single nucleotide variant not provided [RCV000660371] Chr2:165139551 [GRCh38]
Chr2:165996061 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg) single nucleotide variant not provided [RCV000660452] Chr2:165127637 [GRCh38]
Chr2:165984147 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) single nucleotide variant not provided [RCV000713084] Chr2:165176351 [GRCh38]
Chr2:166032861 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg) single nucleotide variant not provided [RCV000713086] Chr2:165090953 [GRCh38]
Chr2:165947463 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165984121)_(166246354_?)dup duplication Seizures, benign familial infantile, 3 [RCV000708264] Chr2:165127611..165389844 [GRCh38]
Chr2:165984121..166246354 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165946660)_(166246334_?)dup duplication Seizures, benign familial infantile, 3 [RCV000708501] Chr2:165090150..165389824 [GRCh38]
Chr2:165946660..166246334 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.602+9C>T single nucleotide variant not provided [RCV000713089] Chr2:165164383 [GRCh38]
Chr2:166020893 [GRCh37]
Chr2:2q24.3
benign
Single allele deletion not provided [RCV000768457] Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
NM_006922.4(SCN3A):c.603-3_603-2del deletion not provided [RCV001052477] Chr2:165163711..165163712 [GRCh38]
Chr2:166020221..166020222 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
GRCh37/hg19 2q24.3(chr2:166002351-166016247)x3 copy number gain not provided [RCV000740663] Chr2:166002351..166016247 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.3(chr2:166003479-166020295)x3 copy number gain not provided [RCV000740664] Chr2:166003479..166020295 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.3(chr2:166015189-166020295)x3 copy number gain not provided [RCV000740665] Chr2:166015189..166020295 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.1920A>G (p.Ala640=) single nucleotide variant not provided [RCV000862285] Chr2:165140750 [GRCh38]
Chr2:165997260 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2602C>T (p.Leu868=) single nucleotide variant not provided [RCV000862076] Chr2:165130260 [GRCh38]
Chr2:165986770 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2181G>A (p.Pro727=) single nucleotide variant not provided [RCV000872774] Chr2:165138089 [GRCh38]
Chr2:165994599 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2637G>C (p.Val879=) single nucleotide variant not provided [RCV000862819] Chr2:165130225 [GRCh38]
Chr2:165986735 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4719T>C (p.Phe1573=) single nucleotide variant not provided [RCV000862863] Chr2:165092342 [GRCh38]
Chr2:165948852 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5433T>G (p.Ser1811=) single nucleotide variant not provided [RCV000941759] Chr2:165090720 [GRCh38]
Chr2:165947230 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3581A>G (p.Asn1194Ser) single nucleotide variant not provided [RCV000762286] Chr2:165113904 [GRCh38]
Chr2:165970414 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1970T>C (p.Val657Ala) single nucleotide variant not provided [RCV000762287] Chr2:165140700 [GRCh38]
Chr2:165997210 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4472A>G (p.Lys1491Arg) single nucleotide variant not provided [RCV001061016] Chr2:165094438 [GRCh38]
Chr2:165950948 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) single nucleotide variant not provided [RCV000997251] Chr2:165095539 [GRCh38]
Chr2:165952049 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_006922.4(SCN3A):c.3320T>C (p.Val1107Ala) single nucleotide variant not provided [RCV000900513] Chr2:165127704 [GRCh38]
Chr2:165984214 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2250A>G (p.Lys750=) single nucleotide variant not provided [RCV000866149] Chr2:165138020 [GRCh38]
Chr2:165994530 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4983G>A (p.Leu1661=) single nucleotide variant not provided [RCV000902834] Chr2:165091170 [GRCh38]
Chr2:165947680 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3300C>T (p.Thr1100=) single nucleotide variant not provided [RCV000866299] Chr2:165127724 [GRCh38]
Chr2:165984234 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.429A>T (p.Val143=) single nucleotide variant not provided [RCV000865280] Chr2:165168780 [GRCh38]
Chr2:166025290 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4047T>C (p.Phe1349=) single nucleotide variant not provided [RCV000863344] Chr2:165097444 [GRCh38]
Chr2:165953954 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1425A>C (p.Ile475=) single nucleotide variant not provided [RCV000941980] Chr2:165146985 [GRCh38]
Chr2:166003495 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3844-4G>T single nucleotide variant not provided [RCV000950086] Chr2:165100428 [GRCh38]
Chr2:165956938 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3844-9C>T single nucleotide variant not provided [RCV000950087] Chr2:165100433 [GRCh38]
Chr2:165956943 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3844-10C>T single nucleotide variant not provided [RCV000950088] Chr2:165100434 [GRCh38]
Chr2:165956944 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5628C>T (p.Asp1876=) single nucleotide variant not provided [RCV000926903] Chr2:165090525 [GRCh38]
Chr2:165947035 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2994C>A (p.Asp998Glu) single nucleotide variant not provided [RCV000867211] Chr2:165128030 [GRCh38]
Chr2:165984540 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3600C>T (p.Tyr1200=) single nucleotide variant not provided [RCV000942337] Chr2:165113885 [GRCh38]
Chr2:165970395 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1926G>C (p.Gly642=) single nucleotide variant not provided [RCV000902763] Chr2:165140744 [GRCh38]
Chr2:165997254 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3336T>C (p.Phe1112=) single nucleotide variant not provided [RCV000927675] Chr2:165127688 [GRCh38]
Chr2:165984198 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2153-10_2153-9insACTACTCT insertion not provided [RCV000867383] Chr2:165138126..165138127 [GRCh38]
Chr2:165994636..165994637 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2862C>T (p.Val954=) single nucleotide variant not provided [RCV000870711] Chr2:165130000 [GRCh38]
Chr2:165986510 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1559G>C (p.Arg520Thr) single nucleotide variant not provided [RCV000867698] Chr2:165146851 [GRCh38]
Chr2:166003361 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2445T>C (p.Asp815=) single nucleotide variant not provided [RCV000928966] Chr2:165131364 [GRCh38]
Chr2:165987874 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.75C>T (p.Ile25=) single nucleotide variant not provided [RCV000946232] Chr2:165176320 [GRCh38]
Chr2:166032830 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.633T>C (p.Asn211=) single nucleotide variant not provided [RCV000970575] Chr2:165163679 [GRCh38]
Chr2:166020189 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.63T>G (p.Ser21=) single nucleotide variant not provided [RCV000920992] Chr2:165176332 [GRCh38]
Chr2:166032842 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.867C>T (p.Thr289=) single nucleotide variant not provided [RCV000893360] Chr2:165162656 [GRCh38]
Chr2:166019166 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.999C>T (p.Asp333=) single nucleotide variant not provided [RCV000865823] Chr2:165162340 [GRCh38]
Chr2:166018850 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5037T>C (p.Tyr1679=) single nucleotide variant not provided [RCV000867218] Chr2:165091116 [GRCh38]
Chr2:165947626 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.774G>A (p.Leu258=) single nucleotide variant not provided [RCV000920189] Chr2:165162749 [GRCh38]
Chr2:166019259 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5502T>C (p.Leu1834=) single nucleotide variant not provided [RCV000869011] Chr2:165090651 [GRCh38]
Chr2:165947161 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.1602A>C (p.Arg534Ser) single nucleotide variant not provided [RCV000898861] Chr2:165146808 [GRCh38]
Chr2:166003318 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.956T>C (p.Ile319Thr) single nucleotide variant not provided [RCV000866288] Chr2:165162567 [GRCh38]
Chr2:166019077 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2291T>A (p.Leu764His) single nucleotide variant not provided [RCV001062684] Chr2:165137979 [GRCh38]
Chr2:165994489 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3689T>C (p.Ile1230Thr) single nucleotide variant not provided [RCV001044649] Chr2:165113039 [GRCh38]
Chr2:165969549 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3335T>C (p.Phe1112Ser) single nucleotide variant not provided [RCV001044671] Chr2:165127689 [GRCh38]
Chr2:165984199 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1902G>T (p.Met634Ile) single nucleotide variant not provided [RCV001064029] Chr2:165140768 [GRCh38]
Chr2:165997278 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His) single nucleotide variant not provided [RCV001041224] Chr2:165140958 [GRCh38]
Chr2:165997468 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1688G>A (p.Arg563His) single nucleotide variant not provided [RCV001065511] Chr2:165140982 [GRCh38]
Chr2:165997492 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) single nucleotide variant not provided [RCV001066002] Chr2:165097255 [GRCh38]
Chr2:165953765 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.12:g.(?_165090130)_(165344931_?)del deletion Seizures, benign familial infantile, 3 [RCV001381178]|not provided [RCV001031929] Chr2:165946640..166201441 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_006922.4(SCN3A):c.5614del (p.Ile1872fs) deletion not provided [RCV001034807] Chr2:165090539 [GRCh38]
Chr2:165947049 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr) single nucleotide variant not provided [RCV001070532] Chr2:165115470 [GRCh38]
Chr2:165971980 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5956C>A (p.Pro1986Thr) single nucleotide variant not provided [RCV001070884] Chr2:165090197 [GRCh38]
Chr2:165946707 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2420T>C (p.Met807Thr) single nucleotide variant not provided [RCV001043483] Chr2:165131389 [GRCh38]
Chr2:165987899 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV000809800] Chr2:165176390 [GRCh38]
Chr2:166032900 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.512T>C (p.Ile171Thr) single nucleotide variant not provided [RCV000806181] Chr2:165164482 [GRCh38]
Chr2:166020992 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3672C>T (p.Ala1224=) single nucleotide variant not provided [RCV000867055] Chr2:165113056 [GRCh38]
Chr2:165969566 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2676C>T (p.Ile892=) single nucleotide variant not provided [RCV000868721] Chr2:165130186 [GRCh38]
Chr2:165986696 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2153-10G>T single nucleotide variant not provided [RCV000867384] Chr2:165138127 [GRCh38]
Chr2:165994637 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4212C>T (p.Gly1404=) single nucleotide variant not provided [RCV000872174] Chr2:165097279 [GRCh38]
Chr2:165953789 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2781C>T (p.Asn927=) single nucleotide variant not provided [RCV000926866] Chr2:165130081 [GRCh38]
Chr2:165986591 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4764C>G (p.Gly1588=) single nucleotide variant not provided [RCV000864326] Chr2:165092297 [GRCh38]
Chr2:165948807 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.1170G>A (p.Gln390=) single nucleotide variant not provided [RCV000960768] Chr2:165155765 [GRCh38]
Chr2:166012275 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4614C>T (p.Leu1538=) single nucleotide variant not provided [RCV000861548] Chr2:165092447 [GRCh38]
Chr2:165948957 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.967+10A>G single nucleotide variant not provided [RCV000977962] Chr2:165162546 [GRCh38]
Chr2:166019056 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5997A>C (p.Gln1999His) single nucleotide variant not provided [RCV000983955] Chr2:165090156 [GRCh38]
Chr2:165946666 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.366C>A (p.Ile122=) single nucleotide variant not provided [RCV000867819] Chr2:165170447 [GRCh38]
Chr2:166026957 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4074T>C (p.Ala1358=) single nucleotide variant not provided [RCV000867913] Chr2:165097417 [GRCh38]
Chr2:165953927 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5526C>G (p.Val1842=) single nucleotide variant not provided [RCV000937317] Chr2:165090627 [GRCh38]
Chr2:165947137 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1992G>A (p.Thr664=) single nucleotide variant not provided [RCV000861007] Chr2:165140678 [GRCh38]
Chr2:165997188 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4185C>T (p.Asn1395=) single nucleotide variant not provided [RCV000862594] Chr2:165097306 [GRCh38]
Chr2:165953816 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4953C>T (p.Ser1651=) single nucleotide variant not provided [RCV000960695] Chr2:165091200 [GRCh38]
Chr2:165947710 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1692C>T (p.Gly564=) single nucleotide variant not provided [RCV000938947] Chr2:165140978 [GRCh38]
Chr2:165997488 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2934C>G (p.Leu978=) single nucleotide variant not provided [RCV000975635] Chr2:165128090 [GRCh38]
Chr2:165984600 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5638G>A (p.Ala1880Thr) single nucleotide variant not provided [RCV000799200] Chr2:165090515 [GRCh38]
Chr2:165947025 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val) single nucleotide variant not provided [RCV000800894] Chr2:165097370 [GRCh38]
Chr2:165953880 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1640C>G (p.Thr547Ser) single nucleotide variant not provided [RCV000796709] Chr2:165146770 [GRCh38]
Chr2:166003280 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg) single nucleotide variant not provided [RCV000823078] Chr2:165146887 [GRCh38]
Chr2:166003397 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4699G>C (p.Val1567Leu) single nucleotide variant not provided [RCV000823274] Chr2:165092362 [GRCh38]
Chr2:165948872 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3589A>G (p.Lys1197Glu) single nucleotide variant not provided [RCV000819328] Chr2:165113896 [GRCh38]
Chr2:165970406 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1858C>T (p.Arg620Ter) single nucleotide variant not provided [RCV000804768] Chr2:165140812 [GRCh38]
Chr2:165997322 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.121C>G (p.Gln41Glu) single nucleotide variant not provided [RCV000821238] Chr2:165176274 [GRCh38]
Chr2:166032784 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4174C>T (p.Arg1392Trp) single nucleotide variant not provided [RCV000813670] Chr2:165097317 [GRCh38]
Chr2:165953827 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.68C>T (p.Ala23Val) single nucleotide variant not provided [RCV000799746] Chr2:165176327 [GRCh38]
Chr2:166032837 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_006922.4(SCN3A):c.5230C>T (p.Pro1744Ser) single nucleotide variant not provided [RCV000817794] Chr2:165090923 [GRCh38]
Chr2:165947433 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3871G>A (p.Ala1291Thr) single nucleotide variant not provided [RCV000807786] Chr2:165100397 [GRCh38]
Chr2:165956907 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.132T>G (p.Asp44Glu) single nucleotide variant not provided [RCV000818173] Chr2:165176263 [GRCh38]
Chr2:166032773 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1124C>G (p.Ser375Cys) single nucleotide variant not provided [RCV000811714] Chr2:165155811 [GRCh38]
Chr2:166012321 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.850G>A (p.Asp284Asn) single nucleotide variant not provided [RCV000791678] Chr2:165162673 [GRCh38]
Chr2:166019183 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_006922.4(SCN3A):c.1991C>T (p.Thr664Met) single nucleotide variant not provided [RCV000808257] Chr2:165140679 [GRCh38]
Chr2:165997189 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala) single nucleotide variant not provided [RCV000794606] Chr2:165176258 [GRCh38]
Chr2:166032768 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3470C>A (p.Thr1157Asn) single nucleotide variant not provided [RCV000798453] Chr2:165115499 [GRCh38]
Chr2:165972009 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4641G>A (p.Thr1547=) single nucleotide variant not provided [RCV000818260] Chr2:165092420 [GRCh38]
Chr2:165948930 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1831C>T (p.Leu611=) single nucleotide variant not provided [RCV000869899] Chr2:165140839 [GRCh38]
Chr2:165997349 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5841C>T (p.Asp1947=) single nucleotide variant not provided [RCV000871490] Chr2:165090312 [GRCh38]
Chr2:165946822 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2370T>G (p.Ser790Arg) single nucleotide variant not provided [RCV000800228] Chr2:165137900 [GRCh38]
Chr2:165994410 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3268T>C (p.Tyr1090His) single nucleotide variant not provided [RCV000800249] Chr2:165127756 [GRCh38]
Chr2:165984266 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2252A>G (p.His751Arg) single nucleotide variant not provided [RCV000800250] Chr2:165138018 [GRCh38]
Chr2:165994528 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1385T>A (p.Val462Asp) single nucleotide variant not provided [RCV000818433] Chr2:165147025 [GRCh38]
Chr2:166003535 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5074_5090dup (p.Ser1698fs) duplication not provided [RCV000803717] Chr2:165091062..165091063 [GRCh38]
Chr2:165947572..165947573 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2031_2032delinsTA (p.Glu678Lys) indel not provided [RCV000805477] Chr2:165139596..165139597 [GRCh38]
Chr2:165996106..165996107 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4792A>G (p.Ile1598Val) single nucleotide variant not provided [RCV000805514] Chr2:165092269 [GRCh38]
Chr2:165948779 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5627A>G (p.Asp1876Gly) single nucleotide variant not provided [RCV000791707] Chr2:165090526 [GRCh38]
Chr2:165947036 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1315G>A (p.Glu439Lys) single nucleotide variant not provided [RCV000805616] Chr2:165154517 [GRCh38]
Chr2:166011027 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2350A>C (p.Met784Leu) single nucleotide variant not provided [RCV000795359] Chr2:165137920 [GRCh38]
Chr2:165994430 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.12:g.(?_165090130)_(166311776_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000807258] Chr2:165090130..166311776 [GRCh38]
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.122A>G (p.Gln41Arg) single nucleotide variant not provided [RCV000820412] Chr2:165176273 [GRCh38]
Chr2:166032783 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5774G>A (p.Ser1925Asn) single nucleotide variant not provided [RCV000820448] Chr2:165090379 [GRCh38]
Chr2:165946889 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3449G>A (p.Arg1150Gln) single nucleotide variant not provided [RCV000805658] Chr2:165115520 [GRCh38]
Chr2:165972030 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4148_4151del (p.Asp1383fs) deletion not provided [RCV000815426] Chr2:165097340..165097343 [GRCh38]
Chr2:165953850..165953853 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5699A>G (p.Glu1900Gly) single nucleotide variant not provided [RCV000992886] Chr2:165090454 [GRCh38]
Chr2:165946964 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5713G>A (p.Ala1905Thr) single nucleotide variant not provided [RCV000819518] Chr2:165090440 [GRCh38]
Chr2:165946950 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu) single nucleotide variant not provided [RCV000810077] Chr2:165162595 [GRCh38]
Chr2:166019105 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2204A>G (p.Asn735Ser) single nucleotide variant not provided [RCV000796266] Chr2:165138066 [GRCh38]
Chr2:165994576 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.535T>C (p.Cys179Arg) single nucleotide variant not provided [RCV000800163] Chr2:165164459 [GRCh38]
Chr2:166020969 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV001262488]|not provided [RCV000823038] Chr2:165090570 [GRCh38]
Chr2:165947080 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.165492423_165973543dup duplication Epilepsy [RCV000787424] Chr2:165492423..165973543 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4678C>T (p.Arg1560Trp) single nucleotide variant not provided [RCV000800960] Chr2:165092383 [GRCh38]
Chr2:165948893 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3548G>A (p.Ser1183Asn) single nucleotide variant not provided [RCV000804830] Chr2:165113937 [GRCh38]
Chr2:165970447 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3911G>A (p.Arg1304Gln) single nucleotide variant not provided [RCV000824145] Chr2:165100357 [GRCh38]
Chr2:165956867 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.559C>T (p.Arg187Cys) single nucleotide variant not provided [RCV000824449] Chr2:165164435 [GRCh38]
Chr2:166020945 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.922G>A (p.Val308Ile) single nucleotide variant not provided [RCV000808948] Chr2:165162601 [GRCh38]
Chr2:166019111 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4925G>A (p.Arg1642His) single nucleotide variant not provided [RCV000818948] Chr2:165091228 [GRCh38]
Chr2:165947738 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.805T>C (p.Phe269Leu) single nucleotide variant not provided [RCV000805674] Chr2:165162718 [GRCh38]
Chr2:166019228 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1748G>A (p.Arg583Gln) single nucleotide variant not provided [RCV000798898] Chr2:165140922 [GRCh38]
Chr2:165997432 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4712G>C (p.Gly1571Ala) single nucleotide variant not provided [RCV000794247] Chr2:165092349 [GRCh38]
Chr2:165948859 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln) single nucleotide variant not provided [RCV000812431] Chr2:165146905 [GRCh38]
Chr2:166003415 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3487C>T (p.Leu1163Phe) single nucleotide variant not provided [RCV000791545] Chr2:165115482 [GRCh38]
Chr2:165971992 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1528G>A (p.Glu510Lys) single nucleotide variant not provided [RCV001052846] Chr2:165146882 [GRCh38]
Chr2:166003392 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2936T>C (p.Phe979Ser) single nucleotide variant not provided [RCV000792357] Chr2:165128088 [GRCh38]
Chr2:165984598 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.497C>T (p.Thr166Ile) single nucleotide variant not provided [RCV000798456] Chr2:165164497 [GRCh38]
Chr2:166021007 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5062G>A (p.Asp1688Asn) single nucleotide variant not provided [RCV000805006] Chr2:165091091 [GRCh38]
Chr2:165947601 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1924G>T (p.Gly642Trp) single nucleotide variant not provided [RCV000812326] Chr2:165140746 [GRCh38]
Chr2:165997256 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4893C>T (p.Ile1631=) single nucleotide variant not provided [RCV000876837] Chr2:165091260 [GRCh38]
Chr2:165947770 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2698G>A (p.Gly900Ser) single nucleotide variant not provided [RCV000818803] Chr2:165130164 [GRCh38]
Chr2:165986674 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5220C>T (p.Asp1740=) single nucleotide variant not provided [RCV000860915] Chr2:165090933 [GRCh38]
Chr2:165947443 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.3494C>T (p.Pro1165Leu) single nucleotide variant not provided [RCV000799451] Chr2:165115475 [GRCh38]
Chr2:165971985 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1732T>C (p.Phe578Leu) single nucleotide variant not provided [RCV000807631] Chr2:165140938 [GRCh38]
Chr2:165997448 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5690G>A (p.Arg1897His) single nucleotide variant not provided [RCV000810855] Chr2:165090463 [GRCh38]
Chr2:165946973 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.916G>C (p.Val306Leu) single nucleotide variant not provided [RCV000815979] Chr2:165162607 [GRCh38]
Chr2:166019117 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) single nucleotide variant not provided [RCV000808387] Chr2:165097305 [GRCh38]
Chr2:165953815 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1520G>A (p.Arg507Lys) single nucleotide variant not provided [RCV000861516] Chr2:165146890 [GRCh38]
Chr2:166003400 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5725C>T (p.Arg1909Cys) single nucleotide variant not provided [RCV000808580] Chr2:165090428 [GRCh38]
Chr2:165946938 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1233C>A (p.Gly411=) single nucleotide variant not provided [RCV000980458] Chr2:165154599 [GRCh38]
Chr2:166011109 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.862G>A (p.Glu288Lys) single nucleotide variant not provided [RCV000817158] Chr2:165162661 [GRCh38]
Chr2:166019171 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.198A>C (p.Gly66=) single nucleotide variant not provided [RCV000980578] Chr2:165176197 [GRCh38]
Chr2:166032707 [GRCh37]
Chr2:2q24.3
likely benign
NC_000002.12:g.(?_165090130)_(166286643_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Hereditary sensory and autonomic neuropathy type IIA [RCV001387894] Chr2:165090130..166286643 [GRCh38]
Chr2:165946640..167143153 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.5998A>G (p.Lys2000Glu) single nucleotide variant not provided [RCV000823853] Chr2:165090155 [GRCh38]
Chr2:165946665 [GRCh37]
Chr2:2q24.3
uncertain significance
Single allele deletion Epilepsy [RCV000787426] Chr2:166050817..166679227 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.3251T>C (p.Val1084Ala) single nucleotide variant not provided [RCV000804643] Chr2:165127773 [GRCh38]
Chr2:165984283 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1109G>A (p.Ser370Asn) single nucleotide variant not provided [RCV001058451] Chr2:165155826 [GRCh38]
Chr2:166012336 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2815G>A (p.Val939Met) single nucleotide variant not provided [RCV001054629] Chr2:165130047 [GRCh38]
Chr2:165986557 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1952A>G (p.Asn651Ser) single nucleotide variant not provided [RCV001056759] Chr2:165140718 [GRCh38]
Chr2:165997228 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2358G>A (p.Glu786=) single nucleotide variant not provided [RCV000937109] Chr2:165137912 [GRCh38]
Chr2:165994422 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.729G>A (p.Ser243=) single nucleotide variant not provided [RCV000870628] Chr2:165162794 [GRCh38]
Chr2:166019304 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.872C>T (p.Thr291Ile) single nucleotide variant not provided [RCV000992887] Chr2:165162651 [GRCh38]
Chr2:166019161 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1862G>A (p.Arg621His) single nucleotide variant not provided [RCV001061417] Chr2:165140808 [GRCh38]
Chr2:165997318 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) microsatellite Early infantile epileptic encephalopathy 62 [RCV000986847] Chr2:165128072..165128074 [GRCh38]
Chr2:165984582..165984584 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_006922.4(SCN3A):c.695-6C>G single nucleotide variant not provided [RCV000870422] Chr2:165162834 [GRCh38]
Chr2:166019344 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1521A>C (p.Arg507Ser) single nucleotide variant not provided [RCV001056728] Chr2:165146889 [GRCh38]
Chr2:166003399 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3134T>C (p.Ile1045Thr) single nucleotide variant not provided [RCV001056864] Chr2:165127890 [GRCh38]
Chr2:165984400 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3218G>C (p.Gly1073Ala) single nucleotide variant not provided [RCV001245965] Chr2:165127806 [GRCh38]
Chr2:165984316 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_006922.4(SCN3A):c.3778G>C (p.Val1260Leu) single nucleotide variant not provided [RCV001171709] Chr2:165112950 [GRCh38]
Chr2:165969460 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1027G>T (p.Ala343Ser) single nucleotide variant not provided [RCV001226317] Chr2:165162312 [GRCh38]
Chr2:166018822 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5768T>C (p.Ile1923Thr) single nucleotide variant not provided [RCV001222429] Chr2:165090385 [GRCh38]
Chr2:165946895 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3015G>T (p.Gln1005His) single nucleotide variant not provided [RCV001219835] Chr2:165128009 [GRCh38]
Chr2:165984519 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV001291649]|Epilepsy, familial focal, with variable foci 4 [RCV001291650]|not provided [RCV001203348] Chr2:165092421 [GRCh38]
Chr2:165948931 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1582T>G (p.Ser528Ala) single nucleotide variant not provided [RCV001222618] Chr2:165146828 [GRCh38]
Chr2:166003338 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.849C>G (p.Ser283Arg) single nucleotide variant not provided [RCV001208886] Chr2:165162674 [GRCh38]
Chr2:166019184 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1561G>A (p.Asp521Asn) single nucleotide variant not provided [RCV001220622] Chr2:165146849 [GRCh38]
Chr2:166003359 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4526C>G (p.Pro1509Arg) single nucleotide variant not provided [RCV001220742] Chr2:165094384 [GRCh38]
Chr2:165950894 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1400C>T (p.Ala467Val) single nucleotide variant not provided [RCV001240191] Chr2:165147010 [GRCh38]
Chr2:166003520 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_006922.4(SCN3A):c.2078T>C (p.Met693Thr) single nucleotide variant not provided [RCV001214665] Chr2:165139550 [GRCh38]
Chr2:165996060 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV001335497]|not provided [RCV001214666] Chr2:165113046 [GRCh38]
Chr2:165969556 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3570G>T (p.Lys1190Asn) single nucleotide variant not provided [RCV001239726] Chr2:165113915 [GRCh38]
Chr2:165970425 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5147C>T (p.Ala1716Val) single nucleotide variant not provided [RCV001218408] Chr2:165091006 [GRCh38]
Chr2:165947516 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.397C>T (p.Leu133Phe) single nucleotide variant not provided [RCV001223374] Chr2:165168812 [GRCh38]
Chr2:166025322 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.551C>T (p.Thr184Met) single nucleotide variant not provided [RCV000997252] Chr2:165164443 [GRCh38]
Chr2:166020953 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1380+6G>T single nucleotide variant not provided [RCV001225556] Chr2:165154446 [GRCh38]
Chr2:166010956 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1595T>A (p.Val532Asp) single nucleotide variant not provided [RCV001230270] Chr2:165146815 [GRCh38]
Chr2:166003325 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys) single nucleotide variant not provided [RCV001219188] Chr2:165140857 [GRCh38]
Chr2:165997367 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2176T>C (p.Cys726Arg) single nucleotide variant not provided [RCV001246169] Chr2:165138094 [GRCh38]
Chr2:165994604 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2019+6A>G single nucleotide variant not provided [RCV001247878] Chr2:165140645 [GRCh38]
Chr2:165997155 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1389G>A (p.Ala463=) single nucleotide variant not provided [RCV000868501] Chr2:165147021 [GRCh38]
Chr2:166003531 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3366T>C (p.Ser1122=) single nucleotide variant not provided [RCV000894812] Chr2:165127658 [GRCh38]
Chr2:165984168 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3249C>T (p.Tyr1083=) single nucleotide variant not provided [RCV000862315] Chr2:165127775 [GRCh38]
Chr2:165984285 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5592T>C (p.Ser1864=) single nucleotide variant not provided [RCV000870039] Chr2:165090561 [GRCh38]
Chr2:165947071 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3849T>C (p.Ser1283=) single nucleotide variant not provided [RCV000929758] Chr2:165100419 [GRCh38]
Chr2:165956929 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3393+10C>T single nucleotide variant not provided [RCV000929797] Chr2:165127621 [GRCh38]
Chr2:165984131 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.234G>A (p.Glu78=) single nucleotide variant not provided [RCV000909858] Chr2:165176161 [GRCh38]
Chr2:166032671 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.183T>C (p.Leu61=) single nucleotide variant not provided [RCV000909885] Chr2:165176212 [GRCh38]
Chr2:166032722 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1032-10T>G single nucleotide variant not provided [RCV000862100] Chr2:165155913 [GRCh38]
Chr2:166012423 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4752C>T (p.Tyr1584=) single nucleotide variant not provided [RCV000938501] Chr2:165092309 [GRCh38]
Chr2:165948819 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3477C>T (p.Pro1159=) single nucleotide variant not provided [RCV000938948] Chr2:165115492 [GRCh38]
Chr2:165972002 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2392-9A>G single nucleotide variant not provided [RCV000862723] Chr2:165131426 [GRCh38]
Chr2:165987936 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5070C>T (p.Phe1690=) single nucleotide variant not provided [RCV000941981] Chr2:165091083 [GRCh38]
Chr2:165947593 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.507A>G (p.Ser169=) single nucleotide variant not provided [RCV000863549] Chr2:165164487 [GRCh38]
Chr2:166020997 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3861G>A (p.Leu1287=) single nucleotide variant not provided [RCV000945846] Chr2:165100407 [GRCh38]
Chr2:165956917 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3837C>T (p.Ile1279=) single nucleotide variant not provided [RCV000861230] Chr2:165112891 [GRCh38]
Chr2:165969401 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.3102A>G (p.Pro1034=) single nucleotide variant not provided [RCV000964680] Chr2:165127922 [GRCh38]
Chr2:165984432 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5178T>C (p.Cys1726=) single nucleotide variant not provided [RCV000952674] Chr2:165090975 [GRCh38]
Chr2:165947485 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1983A>G (p.Ser661=) single nucleotide variant not provided [RCV000864053] Chr2:165140687 [GRCh38]
Chr2:165997197 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1431G>A (p.Gly477=) single nucleotide variant not provided [RCV000865546] Chr2:165146979 [GRCh38]
Chr2:166003489 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2100T>C (p.Ser700=) single nucleotide variant not provided [RCV000979446] Chr2:165139528 [GRCh38]
Chr2:165996038 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.732A>G (p.Val244=) single nucleotide variant not provided [RCV000930167] Chr2:165162791 [GRCh38]
Chr2:166019301 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3733A>C (p.Lys1245Gln) single nucleotide variant not provided [RCV001244335] Chr2:165112995 [GRCh38]
Chr2:165969505 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.12:g.(?_165090130)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001032318]|Hereditary sensory and autonomic neuropathy type IIA [RCV001324549]|Seizures, benign familial infantile, 3 [RCV001365121]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3525A>C (p.Lys1175Asn) single nucleotide variant not provided [RCV001222204] Chr2:165113960 [GRCh38]
Chr2:165970470 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.890G>A (p.Gly297Asp) single nucleotide variant not provided [RCV001230004] Chr2:165162633 [GRCh38]
Chr2:166019143 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1910G>C (p.Gly637Ala) single nucleotide variant SCN3A-related neurodevelopmental sisorder [RCV001249704]|not provided [RCV001325585] Chr2:165140760 [GRCh38]
Chr2:165997270 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.898G>A (p.Asp300Asn) single nucleotide variant SCN3A-related neurodevelopmental sisorder [RCV001249705] Chr2:165162625 [GRCh38]
Chr2:166019135 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5028C>A (p.Asn1676Lys) single nucleotide variant not provided [RCV001222394] Chr2:165091125 [GRCh38]
Chr2:165947635 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2560A>C (p.Arg854=) single nucleotide variant not provided [RCV001200249] Chr2:165131249 [GRCh38]
Chr2:165987759 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.968-10G>T single nucleotide variant not provided [RCV001222905] Chr2:165162381 [GRCh38]
Chr2:166018891 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5483A>G (p.Lys1828Arg) single nucleotide variant not provided [RCV001223016] Chr2:165090670 [GRCh38]
Chr2:165947180 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4926C>T (p.Arg1642=) single nucleotide variant not provided [RCV001092840] Chr2:165091227 [GRCh38]
Chr2:165947737 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2984C>T (p.Thr995Ile) single nucleotide variant not provided [RCV001227392] Chr2:165128040 [GRCh38]
Chr2:165984550 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1727G>A (p.Ser576Asn) single nucleotide variant not provided [RCV001070989] Chr2:165140943 [GRCh38]
Chr2:165997453 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.101C>G (p.Ala34Gly) single nucleotide variant not provided [RCV001071172] Chr2:165176294 [GRCh38]
Chr2:166032804 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2391+3A>G single nucleotide variant not provided [RCV001206030] Chr2:165137876 [GRCh38]
Chr2:165994386 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.747T>A (p.Asp249Glu) single nucleotide variant not provided [RCV001237339] Chr2:165162776 [GRCh38]
Chr2:166019286 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1945G>A (p.Asp649Asn) single nucleotide variant not provided [RCV001227779] Chr2:165140725 [GRCh38]
Chr2:165997235 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1103C>G (p.Thr368Ser) single nucleotide variant not provided [RCV001237429] Chr2:165155832 [GRCh38]
Chr2:166012342 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5636T>C (p.Met1879Thr) single nucleotide variant not provided [RCV001227880] Chr2:165090517 [GRCh38]
Chr2:165947027 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2293G>A (p.Ala765Thr) single nucleotide variant not provided [RCV001224468] Chr2:165137977 [GRCh38]
Chr2:165994487 [GRCh37]
Chr2:2q24.3
likely pathogenic
NC_000002.12:g.(?_165090130)_(166204484_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001031030] Chr2:165946640..167060994 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.844C>T (p.Pro282Ser) single nucleotide variant not provided [RCV001064482] Chr2:165162679 [GRCh38]
Chr2:166019189 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2329A>T (p.Met777Leu) single nucleotide variant not provided [RCV001221304] Chr2:165137941 [GRCh38]
Chr2:165994451 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.560G>A (p.Arg187His) single nucleotide variant Seizures [RCV001263297]|not provided [RCV001065853] Chr2:165164434 [GRCh38]
Chr2:166020944 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_006922.4(SCN3A):c.1997C>T (p.Pro666Leu) single nucleotide variant not provided [RCV001065870] Chr2:165140673 [GRCh38]
Chr2:165997183 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5360A>G (p.Glu1787Gly) single nucleotide variant not provided [RCV001217914] Chr2:165090793 [GRCh38]
Chr2:165947303 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5621T>C (p.Met1874Thr) single nucleotide variant not provided [RCV001235277] Chr2:165090532 [GRCh38]
Chr2:165947042 [GRCh37]
Chr2:2q24.3
likely pathogenic|uncertain significance
NM_006922.4(SCN3A):c.3256G>A (p.Asp1086Asn) single nucleotide variant not provided [RCV001228024] Chr2:165127768 [GRCh38]
Chr2:165984278 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.642G>C (p.Ala214=) single nucleotide variant not provided [RCV000933615] Chr2:165163670 [GRCh38]
Chr2:166020180 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3288C>T (p.Asn1096=) single nucleotide variant not provided [RCV000934721] Chr2:165127736 [GRCh38]
Chr2:165984246 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.366C>T (p.Ile122=) single nucleotide variant not provided [RCV000933620] Chr2:165170447 [GRCh38]
Chr2:166026957 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV000986848] Chr2:165137920 [GRCh38]
Chr2:165994430 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV001028015] Chr2:165127759 [GRCh38]
Chr2:165984269 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2863G>A (p.Ala955Thr) single nucleotide variant not provided [RCV001070410] Chr2:165129999 [GRCh38]
Chr2:165986509 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3590A>T (p.Lys1197Ile) single nucleotide variant not provided [RCV001061404] Chr2:165113895 [GRCh38]
Chr2:165970405 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3515G>A (p.Gly1172Glu) single nucleotide variant not provided [RCV001055683] Chr2:165113970 [GRCh38]
Chr2:165970480 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.740T>C (p.Leu247Pro) single nucleotide variant not provided [RCV001092842] Chr2:165162783 [GRCh38]
Chr2:166019293 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.2051G>A (p.Arg684Lys) single nucleotide variant not provided [RCV001229048] Chr2:165139577 [GRCh38]
Chr2:165996087 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.12:g.(?_165112865)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033802]|not provided [RCV001346192] Chr2:165969375..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3856A>C (p.Ser1286Arg) single nucleotide variant not provided [RCV001171708] Chr2:165100412 [GRCh38]
Chr2:165956922 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4732G>A (p.Val1578Ile) single nucleotide variant not provided [RCV001058040] Chr2:165092329 [GRCh38]
Chr2:165948839 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3661G>T (p.Gly1221Cys) single nucleotide variant not provided [RCV001212183] Chr2:165113824 [GRCh38]
Chr2:165970334 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2034A>T (p.Glu678Asp) single nucleotide variant not provided [RCV001218454] Chr2:165139594 [GRCh38]
Chr2:165996104 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3593C>G (p.Thr1198Ser) single nucleotide variant not provided [RCV001208250] Chr2:165113892 [GRCh38]
Chr2:165970402 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5537G>A (p.Arg1846Gln) single nucleotide variant not provided [RCV001204690] Chr2:165090616 [GRCh38]
Chr2:165947126 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.893C>T (p.Thr298Ile) single nucleotide variant not provided [RCV001207509] Chr2:165162630 [GRCh38]
Chr2:166019140 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=) single nucleotide variant not provided [RCV001206263] Chr2:165127940 [GRCh38]
Chr2:165984450 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5540T>C (p.Ile1847Thr) single nucleotide variant not provided [RCV001219802] Chr2:165090613 [GRCh38]
Chr2:165947123 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2449T>C (p.Tyr817His) single nucleotide variant not provided [RCV001062423] Chr2:165131360 [GRCh38]
Chr2:165987870 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1388C>T (p.Ala463Val) single nucleotide variant not provided [RCV001048714] Chr2:165147022 [GRCh38]
Chr2:166003532 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.130G>T (p.Asp44Tyr) single nucleotide variant not provided [RCV001050054] Chr2:165176265 [GRCh38]
Chr2:166032775 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3736G>C (p.Val1246Leu) single nucleotide variant not provided [RCV001201986] Chr2:165112992 [GRCh38]
Chr2:165969502 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1133G>A (p.Arg378Gln) single nucleotide variant not provided [RCV001220454] Chr2:165155802 [GRCh38]
Chr2:166012312 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.968-4A>G single nucleotide variant not provided [RCV001072081] Chr2:165162375 [GRCh38]
Chr2:166018885 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1934A>C (p.His645Pro) single nucleotide variant not provided [RCV001044121] Chr2:165140736 [GRCh38]
Chr2:165997246 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5395A>C (p.Lys1799Gln) single nucleotide variant not provided [RCV001234139] Chr2:165090758 [GRCh38]
Chr2:165947268 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1647C>G (p.Asp549Glu) single nucleotide variant not provided [RCV001215037] Chr2:165146763 [GRCh38]
Chr2:166003273 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4690G>C (p.Val1564Leu) single nucleotide variant not provided [RCV001217239] Chr2:165092371 [GRCh38]
Chr2:165948881 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2359C>A (p.Gln787Lys) single nucleotide variant not provided [RCV001207931] Chr2:165137911 [GRCh38]
Chr2:165994421 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.129T>G (p.Asn43Lys) single nucleotide variant not provided [RCV001045046] Chr2:165176266 [GRCh38]
Chr2:166032776 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4213G>A (p.Ala1405Thr) single nucleotide variant not provided [RCV001206247] Chr2:165097278 [GRCh38]
Chr2:165953788 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.262A>G (p.Lys88Glu) single nucleotide variant not provided [RCV001045596] Chr2:165176133 [GRCh38]
Chr2:166032643 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1559_1562del (p.Arg520fs) microsatellite not provided [RCV001216420] Chr2:165146848..165146851 [GRCh38]
Chr2:166003358..166003361 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5437C>G (p.Leu1813Val) single nucleotide variant not provided [RCV001232808] Chr2:165090716 [GRCh38]
Chr2:165947226 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.190A>G (p.Ile64Val) single nucleotide variant not provided [RCV001037952] Chr2:165176205 [GRCh38]
Chr2:166032715 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.641C>T (p.Ala214Val) single nucleotide variant not provided [RCV001234135] Chr2:165163671 [GRCh38]
Chr2:166020181 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5863C>T (p.Pro1955Ser) single nucleotide variant not provided [RCV001205906] Chr2:165090290 [GRCh38]
Chr2:165946800 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1971G>A (p.Val657=) single nucleotide variant not provided [RCV001219654] Chr2:165140699 [GRCh38]
Chr2:165997209 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2866G>A (p.Gly956Ser) single nucleotide variant not provided [RCV001047340] Chr2:165129996 [GRCh38]
Chr2:165986506 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1454C>T (p.Ser485Phe) single nucleotide variant not provided [RCV001203431] Chr2:165146956 [GRCh38]
Chr2:166003466 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4163G>C (p.Gly1388Ala) single nucleotide variant not provided [RCV001092841] Chr2:165097328 [GRCh38]
Chr2:165953838 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166055469-166219950)x1 copy number loss not provided [RCV001005352] Chr2:166055469..166219950 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.2916C>A (p.Asn972Lys) single nucleotide variant not provided [RCV001068797] Chr2:165129946 [GRCh38]
Chr2:165986456 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2532G>A (p.Val844=) single nucleotide variant not provided [RCV001038174] Chr2:165131277 [GRCh38]
Chr2:165987787 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4982T>C (p.Leu1661Pro) single nucleotide variant not provided [RCV001202054] Chr2:165091171 [GRCh38]
Chr2:165947681 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1065_1066dup (p.Gly356fs) duplication not provided [RCV001072087] Chr2:165155868..165155869 [GRCh38]
Chr2:166012378..166012379 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4129G>A (p.Asp1377Asn) single nucleotide variant not provided [RCV001216314] Chr2:165097362 [GRCh38]
Chr2:165953872 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) single nucleotide variant not provided [RCV001092001] Chr2:165091150 [GRCh38]
Chr2:165947660 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4591A>G (p.Ser1531Gly) single nucleotide variant not provided [RCV001040873] Chr2:165092470 [GRCh38]
Chr2:165948980 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3068G>A (p.Arg1023Gln) single nucleotide variant not provided [RCV001232514] Chr2:165127956 [GRCh38]
Chr2:165984466 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.519C>G (p.Ile173Met) single nucleotide variant not provided [RCV001066951] Chr2:165164475 [GRCh38]
Chr2:166020985 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3587G>A (p.Arg1196Gln) single nucleotide variant not provided [RCV001211076] Chr2:165113898 [GRCh38]
Chr2:165970408 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV001253135] Chr2:165127932 [GRCh38]
Chr2:165984442 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1 copy number loss Complex neurodevelopmental disorder [RCV001265130] Chr2:166060478..166349787 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.1032-7C>T single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV001262487] Chr2:165155910 [GRCh38]
Chr2:166012420 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3070G>A (p.Glu1024Lys) single nucleotide variant not provided [RCV001349355] Chr2:165127954 [GRCh38]
Chr2:165984464 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1348G>A (p.Glu450Lys) single nucleotide variant Inborn genetic diseases [RCV001266595]|not provided [RCV001352417] Chr2:165154484 [GRCh38]
Chr2:166010994 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1648A>G (p.Lys550Glu) single nucleotide variant not provided [RCV001313038] Chr2:165146762 [GRCh38]
Chr2:166003272 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV001262489] Chr2:165164513 [GRCh38]
Chr2:166021023 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5090A>G (p.Asn1697Ser) single nucleotide variant Neurodevelopmental abnormality [RCV001264635] Chr2:165091063 [GRCh38]
Chr2:165947573 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4535C>A (p.Ala1512Glu) single nucleotide variant Inborn genetic diseases [RCV001267521] Chr2:165094375 [GRCh38]
Chr2:165950885 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5165C>G (p.Ala1722Gly) single nucleotide variant not provided [RCV001295313] Chr2:165090988 [GRCh38]
Chr2:165947498 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2728G>A (p.Glu910Lys) single nucleotide variant not provided [RCV001324765] Chr2:165130134 [GRCh38]
Chr2:165986644 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3178G>C (p.Glu1060Gln) single nucleotide variant not provided [RCV001295274] Chr2:165127846 [GRCh38]
Chr2:165984356 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165984121)_(166246354_?)dup duplication Seizures, benign familial infantile, 3 [RCV000708264]|not provided [RCV001314509] Chr2:165984121..166246354 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.286G>A (p.Gly96Arg) single nucleotide variant not provided [RCV001298641] Chr2:165170527 [GRCh38]
Chr2:166027037 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2019+8T>C single nucleotide variant not provided [RCV001311930] Chr2:165140643 [GRCh38]
Chr2:165997153 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.207T>A (p.Pro69=) single nucleotide variant not provided [RCV001311932] Chr2:165176188 [GRCh38]
Chr2:166032698 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_006922.4(SCN3A):c.3184A>G (p.Asn1062Asp) single nucleotide variant not provided [RCV001319973] Chr2:165127840 [GRCh38]
Chr2:165984350 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4525C>T (p.Pro1509Ser) single nucleotide variant not provided [RCV001342017] Chr2:165094385 [GRCh38]
Chr2:165950895 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2858A>G (p.Glu953Gly) single nucleotide variant not provided [RCV001295678] Chr2:165130004 [GRCh38]
Chr2:165986514 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1680G>C (p.Leu560Phe) single nucleotide variant not provided [RCV001319300] Chr2:165140990 [GRCh38]
Chr2:165997500 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.694+3G>T single nucleotide variant not provided [RCV001319336] Chr2:165163615 [GRCh38]
Chr2:166020125 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4992G>A (p.Leu1664=) single nucleotide variant not provided [RCV001307801] Chr2:165091161 [GRCh38]
Chr2:165947671 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5882G>A (p.Ser1961Asn) single nucleotide variant not provided [RCV001300912] Chr2:165090271 [GRCh38]
Chr2:165946781 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4207G>A (p.Val1403Ile) single nucleotide variant not provided [RCV001350964] Chr2:165097284 [GRCh38]
Chr2:165953794 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3678A>C (p.Glu1226Asp) single nucleotide variant not provided [RCV001325885] Chr2:165113050 [GRCh38]
Chr2:165969560 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5773A>G (p.Ser1925Gly) single nucleotide variant not provided [RCV001298549] Chr2:165090380 [GRCh38]
Chr2:165946890 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.997G>T (p.Asp333Tyr) single nucleotide variant Intellectual disability [RCV001281549] Chr2:165162342 [GRCh38]
Chr2:166018852 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3125G>C (p.Gly1042Ala) single nucleotide variant not provided [RCV001320294] Chr2:165127899 [GRCh38]
Chr2:165984409 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165946640)_(167168286_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001308306]|Hereditary sensory and autonomic neuropathy type IIA [RCV001324549]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3153T>G (p.Asn1051Lys) single nucleotide variant not provided [RCV001318638] Chr2:165127871 [GRCh38]
Chr2:165984381 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1901T>G (p.Met634Arg) single nucleotide variant not provided [RCV001311931] Chr2:165140769 [GRCh38]
Chr2:165997279 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2876T>A (p.Met959Lys) single nucleotide variant not provided [RCV001296563] Chr2:165129986 [GRCh38]
Chr2:165986496 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1726A>G (p.Ser576Gly) single nucleotide variant not provided [RCV001343498] Chr2:165140944 [GRCh38]
Chr2:165997454 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5639C>T (p.Ala1880Val) single nucleotide variant not provided [RCV001296959] Chr2:165090514 [GRCh38]
Chr2:165947024 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3116T>A (p.Ile1039Asn) single nucleotide variant not provided [RCV001296960] Chr2:165127908 [GRCh38]
Chr2:165984418 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV001328555]|not provided [RCV001305904] Chr2:165127891 [GRCh38]
Chr2:165984401 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4594A>G (p.Ile1532Val) single nucleotide variant not provided [RCV001306290] Chr2:165092467 [GRCh38]
Chr2:165948977 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3435T>G (p.Asp1145Glu) single nucleotide variant not provided [RCV001340737] Chr2:165115534 [GRCh38]
Chr2:165972044 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5060A>G (p.Asp1687Gly) single nucleotide variant not provided [RCV001318722] Chr2:165091093 [GRCh38]
Chr2:165947603 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1711C>T (p.Arg571Cys) single nucleotide variant not provided [RCV001363101] Chr2:165140959 [GRCh38]
Chr2:165997469 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3426C>T (p.Ser1142=) single nucleotide variant not provided [RCV001391758] Chr2:165115543 [GRCh38]
Chr2:165972053 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1580A>C (p.Glu527Ala) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV001335496] Chr2:165146830 [GRCh38]
Chr2:166003340 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.778G>A (p.Val260Met) single nucleotide variant not provided [RCV001352423] Chr2:165162745 [GRCh38]
Chr2:166019255 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.47T>C (p.Leu16Pro) single nucleotide variant not provided [RCV001361552] Chr2:165176348 [GRCh38]
Chr2:166032858 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile) single nucleotide variant not provided [RCV001372492] Chr2:165113856 [GRCh38]
Chr2:165970366 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=) single nucleotide variant not provided [RCV001288734] Chr2:165091170 [GRCh38]
Chr2:165947680 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4897C>T (p.Arg1633Cys) single nucleotide variant not provided [RCV001374296] Chr2:165091256 [GRCh38]
Chr2:165947766 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4175G>A (p.Arg1392Gln) single nucleotide variant not provided [RCV001350889] Chr2:165097316 [GRCh38]
Chr2:165953826 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4437A>G (p.Gly1479=) single nucleotide variant not provided [RCV001395130] Chr2:165094473 [GRCh38]
Chr2:165950983 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4855T>C (p.Leu1619=) single nucleotide variant not provided [RCV001433102] Chr2:165091298 [GRCh38]
Chr2:165947808 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.849C>A (p.Ser283Arg) single nucleotide variant not provided [RCV001368331] Chr2:165162674 [GRCh38]
Chr2:166019184 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4846T>C (p.Ser1616Pro) single nucleotide variant not provided [RCV001370797] Chr2:165091307 [GRCh38]
Chr2:165947817 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4780T>C (p.Phe1594Leu) single nucleotide variant not provided [RCV001360147] Chr2:165092281 [GRCh38]
Chr2:165948791 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1032-5T>C single nucleotide variant not provided [RCV001421753] Chr2:165155908 [GRCh38]
Chr2:166012418 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.847A>G (p.Ser283Gly) single nucleotide variant not provided [RCV001312529] Chr2:165162676 [GRCh38]
Chr2:166019186 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2082G>T (p.Glu694Asp) single nucleotide variant not provided [RCV001312605] Chr2:165139546 [GRCh38]
Chr2:165996056 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2528A>G (p.Asn843Ser) single nucleotide variant not provided [RCV001303602] Chr2:165131281 [GRCh38]
Chr2:165987791 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.349G>A (p.Val117Ile) single nucleotide variant not provided [RCV001371424] Chr2:165170464 [GRCh38]
Chr2:166026974 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3404C>T (p.Ala1135Val) single nucleotide variant not provided [RCV001373471] Chr2:165115565 [GRCh38]
Chr2:165972075 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.240G>A (p.Leu80=) single nucleotide variant not provided [RCV001433984] Chr2:165176155 [GRCh38]
Chr2:166032665 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4660A>G (p.Met1554Val) single nucleotide variant not provided [RCV001371626] Chr2:165092401 [GRCh38]
Chr2:165948911 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1450A>G (p.Ser484Gly) single nucleotide variant not provided [RCV001371654] Chr2:165146960 [GRCh38]
Chr2:166003470 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1484G>T (p.Ser495Ile) single nucleotide variant not provided [RCV001349931] Chr2:165146926 [GRCh38]
Chr2:166003436 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2058A>G (p.Leu686=) single nucleotide variant not provided [RCV001434009] Chr2:165139570 [GRCh38]
Chr2:165996080 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2977G>T (p.Ala993Ser) single nucleotide variant not provided [RCV001362038] Chr2:165128047 [GRCh38]
Chr2:165984557 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2867G>T (p.Gly956Val) single nucleotide variant not provided [RCV001304182] Chr2:165129995 [GRCh38]
Chr2:165986505 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.427G>A (p.Val143Ile) single nucleotide variant not provided [RCV001349712] Chr2:165168782 [GRCh38]
Chr2:166025292 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3089T>G (p.Phe1030Cys) single nucleotide variant not provided [RCV001373175] Chr2:165127935 [GRCh38]
Chr2:165984445 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3631T>C (p.Phe1211Leu) single nucleotide variant not provided [RCV001373518] Chr2:165113854 [GRCh38]
Chr2:165970364 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5947A>G (p.Lys1983Glu) single nucleotide variant not provided [RCV001373608] Chr2:165090206 [GRCh38]
Chr2:165946716 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.694+5G>C single nucleotide variant not provided [RCV001364042] Chr2:165163613 [GRCh38]
Chr2:166020123 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5589G>C (p.Glu1863Asp) single nucleotide variant not provided [RCV001351842] Chr2:165090564 [GRCh38]
Chr2:165947074 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.76G>A (p.Glu26Lys) single nucleotide variant not provided [RCV001299000] Chr2:165176319 [GRCh38]
Chr2:166032829 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4137C>G (p.Asn1379Lys) single nucleotide variant not provided [RCV001321619] Chr2:165097354 [GRCh38]
Chr2:165953864 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1828T>C (p.Ser610Pro) single nucleotide variant not provided [RCV001343669] Chr2:165140842 [GRCh38]
Chr2:165997352 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2728_2730del (p.Glu910del) deletion not provided [RCV001323964] Chr2:165130132..165130134 [GRCh38]
Chr2:165986642..165986644 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165946660)_(167168266_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001390921]|Hereditary sensory and autonomic neuropathy type IIA [RCV001387893]|Seizures, benign familial infantile, 3 [RCV001381177]|not provided [RCV001362895] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_006922.4(SCN3A):c.2626G>A (p.Gly876Ser) single nucleotide variant not provided [RCV001356686] Chr2:165130236 [GRCh38]
Chr2:165986746 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.70G>A (p.Ala24Thr) single nucleotide variant not provided [RCV001323009] Chr2:165176325 [GRCh38]
Chr2:166032835 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4529G>A (p.Arg1510His) single nucleotide variant not provided [RCV001371679] Chr2:165094381 [GRCh38]
Chr2:165950891 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.774G>C (p.Leu258=) single nucleotide variant not provided [RCV001357404] Chr2:165162749 [GRCh38]
Chr2:166019259 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4679G>A (p.Arg1560Gln) single nucleotide variant not provided [RCV001296080] Chr2:165092382 [GRCh38]
Chr2:165948892 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.501T>G (p.Phe167Leu) single nucleotide variant not provided [RCV001372015] Chr2:165164493 [GRCh38]
Chr2:166021003 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1019G>A (p.Gly340Asp) single nucleotide variant not provided [RCV001294487] Chr2:165162320 [GRCh38]
Chr2:166018830 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5182C>T (p.Pro1728Ser) single nucleotide variant not provided [RCV001349562] Chr2:165090971 [GRCh38]
Chr2:165947481 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.880T>C (p.Tyr294His) single nucleotide variant not provided [RCV001345048] Chr2:165162643 [GRCh38]
Chr2:166019153 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1226T>C (p.Phe409Ser) single nucleotide variant not provided [RCV001346027] Chr2:165154606 [GRCh38]
Chr2:166011116 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5791G>A (p.Ala1931Thr) single nucleotide variant not provided [RCV001338880] Chr2:165090362 [GRCh38]
Chr2:165946872 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3110T>C (p.Ile1037Thr) single nucleotide variant not provided [RCV001318985] Chr2:165127914 [GRCh38]
Chr2:165984424 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1173+6G>A single nucleotide variant not provided [RCV001295466] Chr2:165155756 [GRCh38]
Chr2:166012266 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1900A>T (p.Met634Leu) single nucleotide variant not provided [RCV001324408] Chr2:165140770 [GRCh38]
Chr2:165997280 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4204A>G (p.Asn1402Asp) single nucleotide variant not provided [RCV001297493] Chr2:165097287 [GRCh38]
Chr2:165953797 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3127A>C (p.Asn1043His) single nucleotide variant not provided [RCV001347646] Chr2:165127897 [GRCh38]
Chr2:165984407 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3823C>T (p.Leu1275=) single nucleotide variant not provided [RCV001311929] Chr2:165112905 [GRCh38]
Chr2:165969415 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3065T>C (p.Met1022Thr) single nucleotide variant not provided [RCV001319315] Chr2:165127959 [GRCh38]
Chr2:165984469 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5784C>A (p.Asn1928Lys) single nucleotide variant not provided [RCV001323431] Chr2:165090369 [GRCh38]
Chr2:165946879 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1537G>C (p.Glu513Gln) single nucleotide variant not provided [RCV001347670] Chr2:165146873 [GRCh38]
Chr2:166003383 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1174-7C>A single nucleotide variant not provided [RCV001319396] Chr2:165154665 [GRCh38]
Chr2:166011175 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1670A>T (p.Gln557Leu) single nucleotide variant not provided [RCV001341453] Chr2:165146740 [GRCh38]
Chr2:166003250 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1566C>G (p.Ser522Arg) single nucleotide variant not provided [RCV001342993] Chr2:165146844 [GRCh38]
Chr2:166003354 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.82C>T (p.Arg28Cys) single nucleotide variant not provided [RCV001321054] Chr2:165176313 [GRCh38]
Chr2:166032823 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4634T>G (p.Val1545Gly) single nucleotide variant not provided [RCV001322491] Chr2:165092427 [GRCh38]
Chr2:165948937 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3862G>A (p.Val1288Ile) single nucleotide variant not provided [RCV001347936] Chr2:165100406 [GRCh38]
Chr2:165956916 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1925G>C (p.Gly642Ala) single nucleotide variant not provided [RCV001363664] Chr2:165140745 [GRCh38]
Chr2:165997255 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2614A>C (p.Ile872Leu) single nucleotide variant not provided [RCV001359689] Chr2:165130248 [GRCh38]
Chr2:165986758 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3985G>A (p.Val1329Ile) single nucleotide variant not provided [RCV001339373] Chr2:165097506 [GRCh38]
Chr2:165954016 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3393G>A (p.Glu1131=) single nucleotide variant not provided [RCV001317317] Chr2:165127631 [GRCh38]
Chr2:165984141 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2848G>C (p.Asp950His) single nucleotide variant not provided [RCV001323614] Chr2:165130014 [GRCh38]
Chr2:165986524 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4631T>C (p.Met1544Thr) single nucleotide variant not provided [RCV001350623] Chr2:165092430 [GRCh38]
Chr2:165948940 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3260A>G (p.Glu1087Gly) single nucleotide variant not provided [RCV001351561] Chr2:165127764 [GRCh38]
Chr2:165984274 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2610G>T (p.Met870Ile) single nucleotide variant not provided [RCV001339424] Chr2:165130252 [GRCh38]
Chr2:165986762 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5066T>C (p.Met1689Thr) single nucleotide variant not provided [RCV001308336] Chr2:165091087 [GRCh38]
Chr2:165947597 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.989G>A (p.Gly330Glu) single nucleotide variant not provided [RCV001323659] Chr2:165162350 [GRCh38]
Chr2:166018860 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4388T>A (p.Phe1463Tyr) single nucleotide variant not provided [RCV001362357] Chr2:165095554 [GRCh38]
Chr2:165952064 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1696C>G (p.Leu566Val) single nucleotide variant not provided [RCV001324442] Chr2:165140974 [GRCh38]
Chr2:165997484 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser) single nucleotide variant Early infantile epileptic encephalopathy 62 [RCV001374437] Chr2:165097278 [GRCh38]
Chr2:165953788 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2749G>A (p.Asp917Asn) single nucleotide variant not provided [RCV001304860] Chr2:165130113 [GRCh38]
Chr2:165986623 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1380+4del deletion not provided [RCV001371156] Chr2:165154448 [GRCh38]
Chr2:166010958 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.2012C>T (p.Pro671Leu) single nucleotide variant not provided [RCV001371250] Chr2:165140658 [GRCh38]
Chr2:165997168 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1700T>G (p.Phe567Cys) single nucleotide variant not provided [RCV001366592] Chr2:165140970 [GRCh38]
Chr2:165997480 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.695G>A (p.Gly232Asp) single nucleotide variant SCN3A-related neurodevelopmental disorder [RCV001270744] Chr2:165162828 [GRCh38]
Chr2:166019338 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4825A>G (p.Met1609Val) single nucleotide variant none provided [RCV001289874] Chr2:165091328 [GRCh38]
Chr2:165947838 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1100A>C (p.Asp367Ala) single nucleotide variant not provided [RCV001307317] Chr2:165155835 [GRCh38]
Chr2:166012345 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5412G>A (p.Ala1804=) single nucleotide variant not provided [RCV001414173] Chr2:165090741 [GRCh38]
Chr2:165947251 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4975G>A (p.Gly1659Ser) single nucleotide variant not provided [RCV001367873] Chr2:165091178 [GRCh38]
Chr2:165947688 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1453T>G (p.Ser485Ala) single nucleotide variant not provided [RCV001316519] Chr2:165146957 [GRCh38]
Chr2:166003467 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3095G>C (p.Arg1032Thr) single nucleotide variant not provided [RCV001318979] Chr2:165127929 [GRCh38]
Chr2:165984439 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.4871G>A (p.Arg1624His) single nucleotide variant not provided [RCV001369022] Chr2:165091282 [GRCh38]
Chr2:165947792 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.16T>C (p.Leu6=) single nucleotide variant not provided [RCV001395692] Chr2:165176379 [GRCh38]
Chr2:166032889 [GRCh37]
Chr2:2q24.3
likely benign
GRCh37/hg19 2q24.3(chr2:165903672-166666206) copy number gain Corpus callosum, agenesis of [RCV001291959] Chr2:165903672..166666206 [GRCh37]
Chr2:2q24.3
pathogenic
NM_006922.4(SCN3A):c.965A>T (p.Asp322Val) single nucleotide variant not provided [RCV001307786] Chr2:165162558 [GRCh38]
Chr2:166019068 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1555G>C (p.Glu519Gln) single nucleotide variant not provided [RCV001369401] Chr2:165146855 [GRCh38]
Chr2:166003365 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.3142T>C (p.Cys1048Arg) single nucleotide variant not provided [RCV001365679] Chr2:165127882 [GRCh38]
Chr2:165984392 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.1381-3C>T single nucleotide variant not provided [RCV001315847] Chr2:165147032 [GRCh38]
Chr2:166003542 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5424A>G (p.Ile1808Met) single nucleotide variant not provided [RCV001294536] Chr2:165090729 [GRCh38]
Chr2:165947239 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_006922.4(SCN3A):c.5461G>C (p.Asp1821His) single nucleotide variant not provided [RCV001486625] Chr2:165090692 [GRCh38]
Chr2:165947202 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4387T>C (p.Phe1463Leu) single nucleotide variant not provided [RCV001377543] Chr2:165095555 [GRCh38]
Chr2:165952065 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_006922.4(SCN3A):c.4239+10T>A single nucleotide variant not provided [RCV001424840] Chr2:165097242 [GRCh38]
Chr2:165953752 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2020-8G>T single nucleotide variant not provided [RCV001464329] Chr2:165139616 [GRCh38]
Chr2:165996126 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4389C>T (p.Phe1463=) single nucleotide variant not provided [RCV001515701] Chr2:165095553 [GRCh38]
Chr2:165952063 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5880G>A (p.Gly1960=) single nucleotide variant not provided [RCV001481780] Chr2:165090273 [GRCh38]
Chr2:165946783 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4797C>G (p.Leu1599=) single nucleotide variant not provided [RCV001473544] Chr2:165092264 [GRCh38]
Chr2:165948774 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4791G>C (p.Val1597=) single nucleotide variant not provided [RCV001490815] Chr2:165092270 [GRCh38]
Chr2:165948780 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4065T>C (p.Asn1355=) single nucleotide variant not provided [RCV001436112] Chr2:165097426 [GRCh38]
Chr2:165953936 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4782T>C (p.Phe1594=) single nucleotide variant not provided [RCV001492585] Chr2:165092279 [GRCh38]
Chr2:165948789 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.968-20G>T single nucleotide variant not provided [RCV001520807] Chr2:165162391 [GRCh38]
Chr2:166018901 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.5760A>G (p.Leu1920=) single nucleotide variant not provided [RCV001455672] Chr2:165090393 [GRCh38]
Chr2:165946903 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4723C>T (p.Leu1575=) single nucleotide variant not provided [RCV001475514] Chr2:165092338 [GRCh38]
Chr2:165948848 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4432-10_4432-9del deletion not provided [RCV001462922] Chr2:165094487..165094488 [GRCh38]
Chr2:165950997..165950998 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5845C>T (p.Leu1949=) single nucleotide variant not provided [RCV001466179] Chr2:165090308 [GRCh38]
Chr2:165946818 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5199T>C (p.Pro1733=) single nucleotide variant not provided [RCV001405459] Chr2:165090954 [GRCh38]
Chr2:165947464 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2958A>G (p.Ser986=) single nucleotide variant not provided [RCV001492838] Chr2:165128066 [GRCh38]
Chr2:165984576 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5104T>C (p.Leu1702=) single nucleotide variant not provided [RCV001452380] Chr2:165091049 [GRCh38]
Chr2:165947559 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4155G>A (p.Gln1385=) single nucleotide variant not provided [RCV001497359] Chr2:165097336 [GRCh38]
Chr2:165953846 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4842T>C (p.Phe1614=) single nucleotide variant not provided [RCV001497147] Chr2:165091311 [GRCh38]
Chr2:165947821 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4029C>A (p.Leu1343=) single nucleotide variant not provided [RCV001479538] Chr2:165097462 [GRCh38]
Chr2:165953972 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4974C>T (p.Ile1658=) single nucleotide variant not provided [RCV001471927] Chr2:165091179 [GRCh38]
Chr2:165947689 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2823T>C (p.Cys941=) single nucleotide variant not provided [RCV001442482] Chr2:165130039 [GRCh38]
Chr2:165986549 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2923-14dup duplication not provided [RCV001455934] Chr2:165128108..165128109 [GRCh38]
Chr2:165984618..165984619 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1467A>C (p.Ser489=) single nucleotide variant not provided [RCV001466056] Chr2:165146943 [GRCh38]
Chr2:166003453 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.771T>C (p.Cys257=) single nucleotide variant not provided [RCV001489441] Chr2:165162752 [GRCh38]
Chr2:166019262 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.520T>C (p.Leu174=) single nucleotide variant not provided [RCV001456227] Chr2:165164474 [GRCh38]
Chr2:166020984 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1174-4C>T single nucleotide variant not provided [RCV001488291] Chr2:165154662 [GRCh38]
Chr2:166011172 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3859C>T (p.Leu1287=) single nucleotide variant not provided [RCV001429523] Chr2:165100409 [GRCh38]
Chr2:165956919 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4482T>C (p.Asn1494=) single nucleotide variant not provided [RCV001416260] Chr2:165094428 [GRCh38]
Chr2:165950938 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2373G>A (p.Val791=) single nucleotide variant not provided [RCV001489861] Chr2:165137897 [GRCh38]
Chr2:165994407 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4818G>C (p.Leu1606=) single nucleotide variant not provided [RCV001474779] Chr2:165091335 [GRCh38]
Chr2:165947845 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1662C>T (p.Ser554=) single nucleotide variant not provided [RCV001506552] Chr2:165146748 [GRCh38]
Chr2:166003258 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5169A>T (p.Pro1723=) single nucleotide variant not provided [RCV001469149] Chr2:165090984 [GRCh38]
Chr2:165947494 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1329C>T (p.Ala443=) single nucleotide variant not provided [RCV001523709] Chr2:165154503 [GRCh38]
Chr2:166011013 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2115C>A (p.Ala705=) single nucleotide variant not provided [RCV001402221] Chr2:165139513 [GRCh38]
Chr2:165996023 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.567A>G (p.Pro189=) single nucleotide variant not provided [RCV001432595] Chr2:165164427 [GRCh38]
Chr2:166020937 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2025C>T (p.Thr675=) single nucleotide variant not provided [RCV001427664] Chr2:165139603 [GRCh38]
Chr2:165996113 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4536+9T>G single nucleotide variant not provided [RCV001412089] Chr2:165094365 [GRCh38]
Chr2:165950875 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5532T>C (p.Gly1844=) single nucleotide variant not provided [RCV001426316] Chr2:165090621 [GRCh38]
Chr2:165947131 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4692G>A (p.Val1564=) single nucleotide variant not provided [RCV001428835] Chr2:165092369 [GRCh38]
Chr2:165948879 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1380+10G>C single nucleotide variant not provided [RCV001446620] Chr2:165154442 [GRCh38]
Chr2:166010952 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3201G>A (p.Gly1067=) single nucleotide variant not provided [RCV001410086] Chr2:165127823 [GRCh38]
Chr2:165984333 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3213C>G (p.Thr1071=) single nucleotide variant not provided [RCV001404980] Chr2:165127811 [GRCh38]
Chr2:165984321 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2697C>T (p.Val899=) single nucleotide variant not provided [RCV001430646] Chr2:165130165 [GRCh38]
Chr2:165986675 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3670-9G>T single nucleotide variant not provided [RCV001400330] Chr2:165113067 [GRCh38]
Chr2:165969577 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3966+8del deletion not provided [RCV001430881] Chr2:165100294 [GRCh38]
Chr2:165956804 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4866G>C (p.Val1622=) single nucleotide variant not provided [RCV001407602] Chr2:165091287 [GRCh38]
Chr2:165947797 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1017T>C (p.Asn339=) single nucleotide variant not provided [RCV001449509] Chr2:165162322 [GRCh38]
Chr2:166018832 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4731C>T (p.Leu1577=) single nucleotide variant not provided [RCV001405429] Chr2:165092330 [GRCh38]
Chr2:165948840 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5700G>A (p.Glu1900=) single nucleotide variant not provided [RCV001415922] Chr2:165090453 [GRCh38]
Chr2:165946963 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3393+8T>C single nucleotide variant not provided [RCV001444717] Chr2:165127623 [GRCh38]
Chr2:165984133 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1173+8C>T single nucleotide variant not provided [RCV001410602] Chr2:165155754 [GRCh38]
Chr2:166012264 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.762T>C (p.Thr254=) single nucleotide variant not provided [RCV001444736] Chr2:165162761 [GRCh38]
Chr2:166019271 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1381-6T>C single nucleotide variant not provided [RCV001408093] Chr2:165147035 [GRCh38]
Chr2:166003545 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5949A>G (p.Lys1983=) single nucleotide variant not provided [RCV001436509] Chr2:165090204 [GRCh38]
Chr2:165946714 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5172C>A (p.Pro1724=) single nucleotide variant not provided [RCV001428130] Chr2:165090981 [GRCh38]
Chr2:165947491 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1734C>T (p.Phe578=) single nucleotide variant not provided [RCV001405876] Chr2:165140936 [GRCh38]
Chr2:165997446 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1716T>C (p.Asn572=) single nucleotide variant not provided [RCV001431843] Chr2:165140954 [GRCh38]
Chr2:165997464 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1050C>T (p.Tyr350=) single nucleotide variant not provided [RCV001445273] Chr2:165155885 [GRCh38]
Chr2:166012395 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5458C>T (p.Leu1820=) single nucleotide variant not provided [RCV001411216] Chr2:165090695 [GRCh38]
Chr2:165947205 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4018T>C (p.Leu1340=) single nucleotide variant not provided [RCV001427234] Chr2:165097473 [GRCh38]
Chr2:165953983 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5061T>C (p.Asp1687=) single nucleotide variant not provided [RCV001442568] Chr2:165091092 [GRCh38]
Chr2:165947602 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3564A>G (p.Lys1188=) single nucleotide variant not provided [RCV001445569] Chr2:165113921 [GRCh38]
Chr2:165970431 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.777C>T (p.Ser259=) single nucleotide variant not provided [RCV001409001] Chr2:165162746 [GRCh38]
Chr2:166019256 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4113C>T (p.Asn1371=) single nucleotide variant not provided [RCV001448259] Chr2:165097378 [GRCh38]
Chr2:165953888 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1152C>T (p.Tyr384=) single nucleotide variant not provided [RCV001400396] Chr2:165155783 [GRCh38]
Chr2:166012293 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.519C>A (p.Ile173=) single nucleotide variant not provided [RCV001440641] Chr2:165164475 [GRCh38]
Chr2:166020985 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4153C>G (p.Gln1385Glu) single nucleotide variant not provided [RCV001432215] Chr2:165097338 [GRCh38]
Chr2:165953848 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1371A>G (p.Glu457=) single nucleotide variant not provided [RCV001432223] Chr2:165154461 [GRCh38]
Chr2:166010971 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4039T>C (p.Leu1347=) single nucleotide variant not provided [RCV001404407] Chr2:165097452 [GRCh38]
Chr2:165953962 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.261G>A (p.Lys87=) single nucleotide variant not provided [RCV001478842] Chr2:165176134 [GRCh38]
Chr2:166032644 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5091C>T (p.Asn1697=) single nucleotide variant not provided [RCV001490080] Chr2:165091062 [GRCh38]
Chr2:165947572 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5433T>C (p.Ser1811=) single nucleotide variant not provided [RCV001457930] Chr2:165090720 [GRCh38]
Chr2:165947230 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.480A>T (p.Thr160=) single nucleotide variant not provided [RCV001473946] Chr2:165164514 [GRCh38]
Chr2:166021024 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2652C>T (p.Asn884=) single nucleotide variant not provided [RCV001500122] Chr2:165130210 [GRCh38]
Chr2:165986720 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2037G>A (p.Thr679=) single nucleotide variant not provided [RCV001477211] Chr2:165139591 [GRCh38]
Chr2:165996101 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4737C>T (p.Ser1579=) single nucleotide variant not provided [RCV001453268] Chr2:165092324 [GRCh38]
Chr2:165948834 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3198T>C (p.Asp1066=) single nucleotide variant not provided [RCV001480839] Chr2:165127826 [GRCh38]
Chr2:165984336 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1381-4A>T single nucleotide variant not provided [RCV001450828] Chr2:165147033 [GRCh38]
Chr2:166003543 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.378A>G (p.Val126=) single nucleotide variant not provided [RCV001469592] Chr2:165170435 [GRCh38]
Chr2:166026945 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2947T>C (p.Leu983=) single nucleotide variant not provided [RCV001455320] Chr2:165128077 [GRCh38]
Chr2:165984587 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.4963T>C (p.Leu1655=) single nucleotide variant not provided [RCV001502967] Chr2:165091190 [GRCh38]
Chr2:165947700 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5493A>G (p.Lys1831=) single nucleotide variant not provided [RCV001495634] Chr2:165090660 [GRCh38]
Chr2:165947170 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2814C>T (p.Arg938=) single nucleotide variant not provided [RCV001504800] Chr2:165130048 [GRCh38]
Chr2:165986558 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2646A>T (p.Leu882=) single nucleotide variant not provided [RCV001504835] Chr2:165130216 [GRCh38]
Chr2:165986726 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3477C>G (p.Pro1159=) single nucleotide variant not provided [RCV001498776] Chr2:165115492 [GRCh38]
Chr2:165972002 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3515-7T>C single nucleotide variant not provided [RCV001471450] Chr2:165113977 [GRCh38]
Chr2:165970487 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.1542A>C (p.Gly514=) single nucleotide variant not provided [RCV001458897] Chr2:165146868 [GRCh38]
Chr2:166003378 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2601A>G (p.Thr867=) single nucleotide variant not provided [RCV001453644] Chr2:165130261 [GRCh38]
Chr2:165986771 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5843A>C (p.Lys1948Thr) single nucleotide variant not provided [RCV001483260] Chr2:165090310 [GRCh38]
Chr2:165946820 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2565+11AT[5] microsatellite not provided [RCV001521366] Chr2:165131225..165131226 [GRCh38]
Chr2:165987735..165987736 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.2949G>A (p.Leu983=) single nucleotide variant not provided [RCV001513096] Chr2:165128075 [GRCh38]
Chr2:165984585 [GRCh37]
Chr2:2q24.3
benign
NM_006922.4(SCN3A):c.4293+7A>G single nucleotide variant not provided [RCV001443190] Chr2:165096460 [GRCh38]
Chr2:165952970 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2397T>C (p.Phe799=) single nucleotide variant not provided [RCV001440643] Chr2:165131412 [GRCh38]
Chr2:165987922 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3670-5C>T single nucleotide variant not provided [RCV001423752] Chr2:165113063 [GRCh38]
Chr2:165969573 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.3999C>G (p.Pro1333=) single nucleotide variant not provided [RCV001416168] Chr2:165097492 [GRCh38]
Chr2:165954002 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.885T>C (p.Phe295=) single nucleotide variant not provided [RCV001434881] Chr2:165162638 [GRCh38]
Chr2:166019148 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.165G>A (p.Leu55=) single nucleotide variant not provided [RCV001501046] Chr2:165176230 [GRCh38]
Chr2:166032740 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.5919A>G (p.Val1973=) single nucleotide variant not provided [RCV001416856] Chr2:165090234 [GRCh38]
Chr2:165946744 [GRCh37]
Chr2:2q24.3
likely benign
NM_006922.4(SCN3A):c.2115C>T (p.Ala705=) single nucleotide variant not provided [RCV001495309] Chr2:165139513 [GRCh38]
Chr2:165996023 [GRCh37]
Chr2:2q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10590 AgrOrtholog
COSMIC SCN3A COSMIC
Ensembl Genes ENSG00000153253 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000283254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391569 UniProtKB/TrEMBL
  ENSP00000403348 UniProtKB/TrEMBL
  ENSP00000491552 UniProtKB/TrEMBL
  ENSP00000492251 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492807 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499420 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499598 UniProtKB/TrEMBL
Ensembl Transcript ENST00000283254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409101 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440431 UniProtKB/TrEMBL
  ENST00000453007 UniProtKB/TrEMBL
  ENST00000638473 UniProtKB/TrEMBL
  ENST00000639244 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000640652 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000658209 UniProtKB/TrEMBL
  ENST00000668657 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153253 GTEx
HGNC ID HGNC:10590 ENTREZGENE
Human Proteome Map SCN3A Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_channel_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_chnl_inactivation_gate UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_trans_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_trans_cytopl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VGCC_Ca_Na UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6328 UniProtKB/Swiss-Prot
NCBI Gene 6328 ENTREZGENE
OMIM 182391 OMIM
  617935 OMIM
  617938 OMIM
PANTHER PTHR10037 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_trans_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na_trans_cytopl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35005 PharmGKB, RGD
PRINTS NACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PQ58_HUMAN UniProtKB/TrEMBL
  A0A1W2PRD1_HUMAN UniProtKB/TrEMBL
  A0A1W2PSB2_HUMAN UniProtKB/TrEMBL
  A0A590UJH3_HUMAN UniProtKB/TrEMBL
  A0A590UJW3_HUMAN UniProtKB/TrEMBL
  C9JBM7_HUMAN UniProtKB/TrEMBL
  E7EUE6_HUMAN UniProtKB/TrEMBL
  L8E9G6_HUMAN UniProtKB/TrEMBL
  Q9C007 ENTREZGENE, UniProtKB/TrEMBL
  Q9GZM4_HUMAN UniProtKB/TrEMBL
  Q9NY46 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q16142 UniProtKB/Swiss-Prot
  Q53SX0 UniProtKB/Swiss-Prot
  Q9BZB3 UniProtKB/Swiss-Prot
  Q9C006 UniProtKB/Swiss-Prot
  Q9NYK2 UniProtKB/Swiss-Prot
  Q9P2J1 UniProtKB/Swiss-Prot
  Q9UPD1 UniProtKB/Swiss-Prot
  Q9Y6P4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 SCN3A  sodium voltage-gated channel alpha subunit 3    sodium channel, voltage gated, type III alpha subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCN3A  sodium channel, voltage gated, type III alpha subunit    sodium channel, voltage-gated, type III, alpha subunit  Symbol and/or name change 5135510 APPROVED
2011-08-17 SCN3A  sodium channel, voltage-gated, type III, alpha subunit  SCN3A  sodium channel, voltage-gated, type III, alpha subunit  Symbol and/or name change 5135510 APPROVED