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:10590
Description: Predicted to enable voltage-gated sodium channel activity. Predicted to be involved in cardiac muscle cell action potential involved in contraction and sodium ion transmembrane transport. Predicted to be located in axon; plasma membrane; and sarcoplasm. Predicted to be part of voltage-gated sodium channel complex. Implicated in developmental and epileptic encephalopathy 62 and familial focal epilepsy with variable foci 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh382165,087,526 - 165,204,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2165,087,526 - 165,204,050 (-)EnsemblGRCh38hg38GRCh38
GRCh372165,944,036 - 166,060,560 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362165,652,276 - 165,768,823 (-)NCBINCBI36Build 36hg18NCBI36
Build 342165,769,546 - 165,886,060NCBI
Celera2159,554,632 - 159,671,179 (-)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2157,826,522 - 157,942,999 (-)NCBIHuRef
CHM1_12165,949,962 - 166,066,539 (-)NCBICHM1_1
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBIT2T-CHM13v2.0
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 cerebral white matter morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral perisylvian polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Childhood onset  (IAGP)
Clonic seizure  (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)
Focal impaired awareness seizure  (IAGP)
Focal-onset seizure  (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)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, borderline  (IAGP)
Involuntary movements  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonus  (IAGP)
Neonatal onset  (IAGP)
Nephronophthisis  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Polymicrogyria  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Simple febrile seizure  (IAGP)
Small face  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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:33895391   PMID:34081427   PMID:35801810   PMID:37935051  


Genomics

Comparative Map Data
SCN3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382165,087,526 - 165,204,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2165,087,526 - 165,204,050 (-)EnsemblGRCh38hg38GRCh38
GRCh372165,944,036 - 166,060,560 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362165,652,276 - 165,768,823 (-)NCBINCBI36Build 36hg18NCBI36
Build 342165,769,546 - 165,886,060NCBI
Celera2159,554,632 - 159,671,179 (-)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2157,826,522 - 157,942,999 (-)NCBIHuRef
CHM1_12165,949,962 - 166,066,539 (-)NCBICHM1_1
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBIT2T-CHM13v2.0
Scn3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39265,287,462 - 65,397,935 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl265,288,607 - 65,397,971 (-)EnsemblGRCm39 Ensembl
GRCm38265,457,118 - 65,567,591 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl265,457,118 - 65,567,627 (-)EnsemblGRCm38mm10GRCm38
MGSCv37265,295,175 - 65,405,549 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36265,260,704 - 65,368,333 (-)NCBIMGSCv36mm8
Celera267,134,509 - 67,244,961 (-)NCBICelera
Cytogenetic Map2C1.3NCBI
cM Map238.55NCBI
Scn3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8370,554,496 - 70,666,198 (-)NCBIGRCr8
mRatBN7.2350,146,411 - 50,258,119 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl350,148,139 - 50,258,119 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx353,491,661 - 53,601,660 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0362,075,268 - 62,185,269 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0359,858,870 - 59,968,781 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0351,530,897 - 51,643,140 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl351,532,627 - 51,643,140 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0358,165,763 - 58,277,870 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4347,501,895 - 47,512,863NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v21367,748,846 - 67,865,733 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B67,763,601 - 67,880,709 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B52,363,020 - 52,479,818 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B169,722,134 - 169,838,590 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B169,722,134 - 169,838,590 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03610,431,868 - 10,536,904 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3610,431,875 - 10,536,895 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13610,504,943 - 10,609,699 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03610,485,818 - 10,590,745 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03610,598,953 - 10,703,719 (-)NCBIUU_Cfam_GSD_1.0
Scn3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303127,437,094 - 127,545,534 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646914,101,868 - 14,179,998 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1050,563,568 - 50,637,179 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040148,830,543 - 148,945,804 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scn3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624732251,860 - 328,917 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624732222,657 - 330,959 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCN3A
1570 total Variants

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 Developmental and epileptic encephalopathy, 62 [RCV001807026]|Epilepsy, familial focal, with variable foci 4 [RCV001807025]|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 Developmental and epileptic encephalopathy, 62 [RCV001807028]|Epilepsy, familial focal, with variable foci 4 [RCV001807027]|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.5873C>G (p.Thr1958Arg) single nucleotide variant not provided [RCV002287995] Chr2:165090280 [GRCh38]
Chr2:165946790 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002492743]|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 Developmental and epileptic encephalopathy, 62 [RCV002500497]|SCN3A-related condition [RCV003907593]|not provided [RCV000713080]|not specified [RCV000177265] Chr2:165176224 [GRCh38]
Chr2:166032734 [GRCh37]
Chr2:2q24.3		 benign|likely 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 Inborn genetic diseases [RCV002517674]|SCN3A-related condition [RCV003937564]|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 Developmental and epileptic encephalopathy, 62 [RCV000764275]|Inborn genetic diseases [RCV003372633]|not provided [RCV000724702] Chr2:165140667 [GRCh38]
Chr2:165997177 [GRCh37]
Chr2:2q24.3		 likely benign|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 Developmental and 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 Developmental and epileptic encephalopathy, 62 [RCV001807102]|Epilepsy, familial focal, with variable foci 4 [RCV001807101]|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 SCN3A-related condition [RCV003965270]|not provided [RCV000176310] Chr2:165100335 [GRCh38]
Chr2:165956845 [GRCh37]
Chr2:2q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) single nucleotide variant Inborn genetic diseases [RCV002517725]|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|likely 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 SCN3A-related condition [RCV003929982]|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 Developmental and 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 SCN3A-related condition [RCV003977676]|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 SCN3A-related condition [RCV003977675]|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|likely benign|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 Inborn genetic diseases [RCV002518079]|not provided [RCV000387103] Chr2:165090328 [GRCh38]
Chr2:165946838 [GRCh37]
Chr2:2q24.3		 likely benign|conflicting interpretations of pathogenicity|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 SCN3A-related condition [RCV003967710]|not provided [RCV000316187] Chr2:165147033 [GRCh38]
Chr2:166003543 [GRCh37]
Chr2:2q24.3		 likely benign|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 Inborn genetic diseases [RCV003169877]|not provided [RCV001368356] Chr2:165090427 [GRCh38]
Chr2:165946937 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.62C>A (p.Ser21Tyr) single nucleotide variant not provided [RCV003312494] Chr2:165176333 [GRCh38]
Chr2:166032843 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3712A>G (p.Thr1238Ala) single nucleotide variant Inborn genetic diseases [RCV003267433] Chr2:165113016 [GRCh38]
Chr2:165969526 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2902A>C (p.Met968Leu) single nucleotide variant not provided [RCV003239248] Chr2:165129960 [GRCh38]
Chr2:165986470 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1451G>C (p.Ser484Thr) single nucleotide variant not provided [RCV003224060] Chr2:165146959 [GRCh38]
Chr2:166003469 [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.2368A>T (p.Ser790Cys) single nucleotide variant not provided [RCV002284958] Chr2:165137902 [GRCh38]
Chr2:165994412 [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		 conflicting interpretations of pathogenicity|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 Developmental and epileptic encephalopathy, 62 [RCV002250643]|atypical cerebral palsy [RCV000655959]|not provided [RCV001856998] 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 SCN3A-related condition [RCV003935599]|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 Developmental and epileptic encephalopathy, 62 [RCV000625712]|Early infantile epileptic encephalopathy with suppression bursts [RCV003243119]|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		 conflicting interpretations of pathogenicity|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 Developmental and epileptic encephalopathy, 62 [RCV000625713]|not provided [RCV000420271] Chr2:165097493 [GRCh38]
Chr2:165954003 [GRCh37]
Chr2:2q24.3		 pathogenic|likely pathogenic
NM_006922.4(SCN3A):c.5425G>A (p.Glu1809Lys) single nucleotide variant Inborn genetic diseases [RCV003298459]|not provided [RCV000462410] Chr2:165090728 [GRCh38]
Chr2:165947238 [GRCh37]
Chr2:2q24.3		 likely benign|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]|not specified [RCV001729604] Chr2:165090495 [GRCh38]
Chr2:165947005 [GRCh37]
Chr2:2q24.3		 benign|likely benign
NM_006922.4(SCN3A):c.3989G>A (p.Gly1330Glu) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV003392265]|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] 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		 likely benign|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] Chr2:165113919 [GRCh38]
Chr2:165970429 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) single nucleotide variant SCN3A-related condition [RCV003972764]|not provided [RCV000713088] Chr2:165090483 [GRCh38]
Chr2:165946993 [GRCh37]
Chr2:2q24.3		 benign|likely benign
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002506137]|not provided [RCV000473983] Chr2:165090921 [GRCh38]
Chr2:165947431 [GRCh37]
Chr2:2q24.3		 benign|likely 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 SCN3A-related condition [RCV003972763]|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] 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		 likely benign|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] Chr2:165090570 [GRCh38]
Chr2:165947080 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003147463]|Epilepsy, familial focal, with variable foci 4 [RCV003147462]|not provided [RCV001372053] 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		 likely benign|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		 conflicting interpretations of pathogenicity|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 Congenital bilateral perisylvian syndrome [RCV003446092]|Developmental and epileptic encephalopathy, 62 [RCV001799670]|not provided [RCV000498016] Chr2:165091291 [GRCh38]
Chr2:165947801 [GRCh37]
Chr2:2q24.3		 pathogenic|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 Epilepsy, familial focal, with variable foci 4 [RCV002466521]|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]|Neuropathy, hereditary sensory and autonomic, type 2A [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]|not provided [RCV003332212] Chr2:165176243 [GRCh38]
Chr2:166032753 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2381T>C (p.Val794Ala) single nucleotide variant Inborn genetic diseases [RCV003282597] Chr2:165137889 [GRCh38]
Chr2:165994399 [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 Developmental and 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]|See cases [RCV002252180]|not provided [RCV001855321] Chr2:165131366 [GRCh38]
Chr2:165987876 [GRCh37]
Chr2:2q24.3		 pathogenic|uncertain significance
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		 conflicting interpretations of pathogenicity|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 Developmental and epileptic encephalopathy, 62 [RCV001807318]|Epilepsy, familial focal, with variable foci 4 [RCV001807317]|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 SCN3A-related condition [RCV003980290]|not provided [RCV000660371] Chr2:165139551 [GRCh38]
Chr2:165996061 [GRCh37]
Chr2:2q24.3		 likely benign|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		 conflicting interpretations of pathogenicity|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 Developmental and epileptic encephalopathy, 62 [RCV002485794]|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]|not provided [RCV003106026] Chr2:165090150..165389824 [GRCh38]
Chr2:165946660..166246334 [GRCh37]
Chr2:2q24.3		 uncertain significance|no classifications from unflagged records
NM_006922.4(SCN3A):c.602+9C>T single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001807320]|Epilepsy, familial focal, with variable foci 4 [RCV001807319]|not provided [RCV000713089] Chr2:165164383 [GRCh38]
Chr2:166020893 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.5696A>T (p.Gln1899Leu) single nucleotide variant not provided [RCV001574353] Chr2:165090457 [GRCh38]
Chr2:165946967 [GRCh37]
Chr2:2q24.3		 uncertain significance
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 Developmental and epileptic encephalopathy, 62 [RCV002479323]|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
NM_006922.4(SCN3A):c.967+76G>T single nucleotide variant not provided [RCV001537395] Chr2:165162480 [GRCh38]
Chr2:166018990 [GRCh37]
Chr2:2q24.3		 benign
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.4848C>G (p.Ser1616=) single nucleotide variant not provided [RCV001531925] Chr2:165091305 [GRCh38]
Chr2:165947815 [GRCh37]
Chr2:2q24.3		 likely 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.1031+191T>C single nucleotide variant not provided [RCV001665938] Chr2:165162117 [GRCh38]
Chr2:166018627 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.3843+202A>G single nucleotide variant not provided [RCV001690272] Chr2:165112683 [GRCh38]
Chr2:165969193 [GRCh37]
Chr2:2q24.3		 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|likely benign
NM_006922.4(SCN3A):c.1381-34G>A single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001807459]|Epilepsy, familial focal, with variable foci 4 [RCV001807458]|not provided [RCV001647733] Chr2:165147063 [GRCh38]
Chr2:166003573 [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.4431+125T>C single nucleotide variant not provided [RCV001611981] Chr2:165095386 [GRCh38]
Chr2:165951896 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1381-157A>G single nucleotide variant not provided [RCV001708512] Chr2:165147186 [GRCh38]
Chr2:166003696 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2020-92T>C single nucleotide variant not provided [RCV001681843] Chr2:165139700 [GRCh38]
Chr2:165996210 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.5741_5743delinsTTT (p.Tyr1914_Leu1915delinsPhePhe) indel not provided [RCV003312492] Chr2:165090410..165090412 [GRCh38]
Chr2:165946920..165946922 [GRCh37]
Chr2:2q24.3		 uncertain significance
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 Developmental and epileptic encephalopathy, 62 [RCV003458514]|Epilepsy, familial focal, with variable foci 4 [RCV003886434]|not provided [RCV000762287] Chr2:165140700 [GRCh38]
Chr2:165997210 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1682G>A (p.Ser561Asn) single nucleotide variant not provided [RCV003239136] Chr2:165140988 [GRCh38]
Chr2:165997498 [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.4239+180A>G single nucleotide variant not provided [RCV001649280] Chr2:165097072 [GRCh38]
Chr2:165953582 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2260A>G (p.Asn754Asp) single nucleotide variant not provided [RCV003239071] Chr2:165138010 [GRCh38]
Chr2:165994520 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001799715]|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 SCN3A-related condition [RCV003895488]|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 SCN3A-related condition [RCV003925864]|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 SCN3A-related condition [RCV003975413]|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 SCN3A-related condition [RCV003968217]|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 Inborn genetic diseases [RCV002536294]|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.1861C>T (p.Arg621Cys) single nucleotide variant not provided [RCV001571163] Chr2:165140809 [GRCh38]
Chr2:165997319 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3689T>C (p.Ile1230Thr) single nucleotide variant Inborn genetic diseases [RCV002552561]|not provided [RCV001044649] Chr2:165113039 [GRCh38]
Chr2:165969549 [GRCh37]
Chr2:2q24.3		 likely benign|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		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His) single nucleotide variant Inborn genetic diseases [RCV002551489]|not provided [RCV001041224] Chr2:165140958 [GRCh38]
Chr2:165997468 [GRCh37]
Chr2:2q24.3		 likely benign|conflicting interpretations of pathogenicity|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		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003224520]|not provided [RCV001066002] Chr2:165097255 [GRCh38]
Chr2:165953765 [GRCh37]
Chr2:2q24.3		 conflicting interpretations of pathogenicity|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|no classifications from unflagged records
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 Developmental and epileptic encephalopathy, 62 [RCV003333132]|Epilepsy, familial focal, with variable foci 4 [RCV003333131]|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.655A>G (p.Arg219Gly) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003311611] Chr2:165163657 [GRCh38]
Chr2:166020167 [GRCh37]
Chr2:2q24.3		 uncertain significance
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		 conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV003169047]|SCN3A-related condition [RCV003948009]|not provided [RCV000823078] Chr2:165146887 [GRCh38]
Chr2:166003397 [GRCh37]
Chr2:2q24.3		 likely benign|conflicting interpretations of pathogenicity|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 Epilepsy, focal, SCN3A related [RCV001824891]|not provided [RCV000819328] Chr2:165113896 [GRCh38]
Chr2:165970406 [GRCh37]
Chr2:2q24.3		 uncertain significance|not provided
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 See cases [RCV002252243]|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 Inborn genetic diseases [RCV002535847]|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 Developmental and epileptic encephalopathy, 62 [RCV002487660]|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		 likely benign|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]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003117597]|Seizures, benign familial infantile, 3 [RCV003106069]|not provided [RCV003106068] Chr2:165090130..166311776 [GRCh38]
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3		 pathogenic|uncertain significance|no classifications from unflagged records
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		 likely benign|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 Inborn genetic diseases [RCV002535508]|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		 conflicting interpretations of pathogenicity|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 Developmental and 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		 likely benign|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		 likely benign|conflicting interpretations of pathogenicity|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		 likely benign|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 SCN3A-related neurodevelopmental disorder [RCV001796979]|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 See cases [RCV002252250]|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 Developmental and epileptic encephalopathy, 62 [RCV002495108]|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]|Neuropathy, hereditary sensory and autonomic, type 2A [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		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) microsatellite Developmental and 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		 likely benign|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 Developmental and 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 Inborn genetic diseases [RCV002563969]|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		 likely benign|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 Inborn genetic diseases [RCV003307792]|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		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.603-115G>A single nucleotide variant not provided [RCV003312493] Chr2:165163824 [GRCh38]
Chr2:166020334 [GRCh37]
Chr2:2q24.3		 likely benign
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.1234T>C (p.Ser412Pro) single nucleotide variant not provided [RCV003234279] Chr2:165154598 [GRCh38]
Chr2:166011108 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1556A>G (p.Glu519Gly) single nucleotide variant not provided [RCV003234386] Chr2:165146854 [GRCh38]
Chr2:166003364 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3593C>A (p.Thr1198Asn) single nucleotide variant not provided [RCV003127159] Chr2:165113892 [GRCh38]
Chr2:165970402 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(166894662_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003105605] Chr2:165946660..166894662 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.265-129A>T single nucleotide variant not provided [RCV001694962] Chr2:165170677 [GRCh38]
Chr2:166027187 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2020-221A>C single nucleotide variant not provided [RCV001655130] Chr2:165139829 [GRCh38]
Chr2:165996339 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1380+183C>A single nucleotide variant not provided [RCV001612065] Chr2:165154269 [GRCh38]
Chr2:166010779 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.4293+141T>C single nucleotide variant not provided [RCV001639275] Chr2:165096326 [GRCh38]
Chr2:165952836 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.85G>A (p.Ala29Thr) single nucleotide variant not provided [RCV001556982] Chr2:165176310 [GRCh38]
Chr2:166032820 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5576G>A (p.Arg1859His) single nucleotide variant not provided [RCV001551642] Chr2:165090577 [GRCh38]
Chr2:165947087 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1389G>A (p.Ala463=) single nucleotide variant SCN3A-related condition [RCV003948145]|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 Developmental and epileptic encephalopathy, 62 [RCV002501216]|not provided [RCV000862723] Chr2:165131426 [GRCh38]
Chr2:165987936 [GRCh37]
Chr2:2q24.3		 benign|likely 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]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001324549]|Seizures, benign familial infantile, 3 [RCV001365121]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3		 uncertain significance|no classifications from unflagged records
NM_006922.4(SCN3A):c.3525A>C (p.Lys1175Asn) single nucleotide variant SCN3A-related condition [RCV003414018]|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		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.5483A>G (p.Lys1828Arg) single nucleotide variant Inborn genetic diseases [RCV003163730]|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 Developmental and epileptic encephalopathy, 62 [RCV002265960]|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 Seizure [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 Inborn genetic diseases [RCV002563693]|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 Developmental and epileptic encephalopathy, 62 [RCV000986848] Chr2:165137920 [GRCh38]
Chr2:165994430 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1031+115A>G single nucleotide variant not provided [RCV001649335] Chr2:165162193 [GRCh38]
Chr2:166018703 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1563C>G (p.Asp521Glu) single nucleotide variant not provided [RCV003234383] Chr2:165146847 [GRCh38]
Chr2:166003357 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2255T>C (p.Leu752Pro) single nucleotide variant not provided [RCV001552926] Chr2:165138015 [GRCh38]
Chr2:165994525 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4792A>T (p.Ile1598Phe) single nucleotide variant not provided [RCV003237017] Chr2:165092269 [GRCh38]
Chr2:165948779 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3239T>C (p.Val1080Ala) single nucleotide variant not provided [RCV002464695] Chr2:165127785 [GRCh38]
Chr2:165984295 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002465081] Chr2:165140653 [GRCh38]
Chr2:165997163 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.5423T>C (p.Ile1808Thr) single nucleotide variant not provided [RCV001556260] Chr2:165090730 [GRCh38]
Chr2:165947240 [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.1000C>G (p.Pro334Ala) single nucleotide variant not provided [RCV001531926] Chr2:165162339 [GRCh38]
Chr2:166018849 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.384-82C>T single nucleotide variant not provided [RCV001596774] Chr2:165168907 [GRCh38]
Chr2:166025417 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.264+36del deletion not provided [RCV001688884] Chr2:165176095 [GRCh38]
Chr2:166032605 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.695-46A>G single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001807431]|Epilepsy, familial focal, with variable foci 4 [RCV001807430]|not provided [RCV001597642] Chr2:165162874 [GRCh38]
Chr2:166019384 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV001028015]|not provided [RCV001799721] Chr2:165127759 [GRCh38]
Chr2:165984269 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2020-164T>A single nucleotide variant not provided [RCV001656367] Chr2:165139772 [GRCh38]
Chr2:165996282 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.265-118T>C single nucleotide variant not provided [RCV001714218] Chr2:165170666 [GRCh38]
Chr2:166027176 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1031+44dup duplication not provided [RCV001686264] Chr2:165162254..165162255 [GRCh38]
Chr2:166018764..166018765 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.474-218C>A single nucleotide variant not provided [RCV001673510] Chr2:165164738 [GRCh38]
Chr2:166021248 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.3515-132A>T single nucleotide variant not provided [RCV001650725] Chr2:165114102 [GRCh38]
Chr2:165970612 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1380+107del deletion not provided [RCV001673909] Chr2:165154345 [GRCh38]
Chr2:166010855 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.968-52A>G single nucleotide variant not provided [RCV001618792] Chr2:165162423 [GRCh38]
Chr2:166018933 [GRCh37]
Chr2:2q24.3		 benign
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|no classifications from unflagged records
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.383+81C>T single nucleotide variant not provided [RCV001646071] Chr2:165170349 [GRCh38]
Chr2:166026859 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2020-209A>G single nucleotide variant not provided [RCV001648044] Chr2:165139817 [GRCh38]
Chr2:165996327 [GRCh37]
Chr2:2q24.3		 benign
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.383+236C>T single nucleotide variant not provided [RCV001611712] Chr2:165170194 [GRCh38]
Chr2:166026704 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1031+182A>T single nucleotide variant not provided [RCV001670800] Chr2:165162126 [GRCh38]
Chr2:166018636 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2020-163T>A single nucleotide variant not provided [RCV001692994] Chr2:165139771 [GRCh38]
Chr2:165996281 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1032-218C>T single nucleotide variant not provided [RCV001649620] Chr2:165156121 [GRCh38]
Chr2:166012631 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1201A>G (p.Met401Val) single nucleotide variant not provided [RCV001567437] Chr2:165154631 [GRCh38]
Chr2:166011141 [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		 likely benign|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		 conflicting interpretations of pathogenicity|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		 likely benign|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		 likely benign|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 SCN3A-related condition [RCV003963124]|not provided [RCV001206247] Chr2:165097278 [GRCh38]
Chr2:165953788 [GRCh37]
Chr2:2q24.3		 likely benign|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		 likely benign|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		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) single nucleotide variant Neurodevelopmental disorder [RCV002471038]|not provided [RCV001092001] Chr2:165091150 [GRCh38]
Chr2:165947660 [GRCh37]
Chr2:2q24.3		 likely pathogenic|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		 likely benign|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.4754T>A (p.Phe1585Tyr) single nucleotide variant not provided [RCV002284921] Chr2:165092307 [GRCh38]
Chr2:165948817 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1032-7C>T single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001262487] Chr2:165155910 [GRCh38]
Chr2:166012420 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5627A>T (p.Asp1876Val) single nucleotide variant not provided [RCV002284702] Chr2:165090526 [GRCh38]
Chr2:165947036 [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		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) single nucleotide variant Developmental and 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.473+72C>T single nucleotide variant not provided [RCV001527732] Chr2:165168664 [GRCh38]
Chr2:166025174 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.4535C>A (p.Ala1512Glu) single nucleotide variant Inborn genetic diseases [RCV001267521]|not provided [RCV001773580] Chr2:165094375 [GRCh38]
Chr2:165950885 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5165C>G (p.Ala1722Gly) single nucleotide variant SCN3A-related condition [RCV003416161]|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|no classifications from unflagged records
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		 conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.207T>A (p.Pro69=) single nucleotide variant SCN3A-related condition [RCV003928837]|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 Epilepsy, familial focal, with variable foci 4 [RCV003387995]|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]|not provided [RCV003770433] 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 Inborn genetic diseases [RCV003169617]|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 Developmental and epileptic encephalopathy, 62 [RCV003147626]|Epilepsy, familial focal, with variable foci 4 [RCV003147625]|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		 conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV002543603]|SCN3A-related condition [RCV003908520]|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		 likely benign|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 Inborn genetic diseases [RCV002547538]|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 Inborn genetic diseases [RCV002541880]|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]|Jeune thoracic dystrophy [RCV001871956]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387893]|Seizures, benign familial infantile, 3 [RCV001381177]|not provided [RCV001362895] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3		 pathogenic|uncertain significance|no classifications from unflagged records
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		 likely benign|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 Developmental and epileptic encephalopathy, 62 [RCV002291224]|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		 likely benign|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		 likely benign|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.913T>A (p.Phe305Ile) single nucleotide variant not provided [RCV001870713] Chr2:165162610 [GRCh38]
Chr2:166019120 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4631T>C (p.Met1544Thr) single nucleotide variant SCN3A-related condition [RCV003399142]|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 Developmental and epileptic encephalopathy, 62 [RCV001374437]|SCN3A-related condition [RCV003399189] Chr2:165097278 [GRCh38]
Chr2:165953788 [GRCh37]
Chr2:2q24.3		 benign|uncertain significance
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]|not provided [RCV001880219] Chr2:165162828 [GRCh38]
Chr2:166019338 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4825A>G (p.Met1609Val) single nucleotide variant not provided [RCV001810707] 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 Developmental and epileptic encephalopathy, 62 [RCV001807413]|Epilepsy, familial focal, with variable foci 4 [RCV001807412]|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 SCN3A-related condition [RCV003940882]|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.2182C>T (p.Pro728Ser) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002250952] Chr2:165138088 [GRCh38]
Chr2:165994598 [GRCh37]
Chr2:2q24.3		 uncertain significance
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 SCN3A-related condition [RCV003946065]|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.603-76G>A single nucleotide variant not provided [RCV001708963] Chr2:165163785 [GRCh38]
Chr2:166020295 [GRCh37]
Chr2:2q24.3		 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.3514+208dup duplication not provided [RCV001725447] Chr2:165115236..165115237 [GRCh38]
Chr2:165971746..165971747 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.474-171G>A single nucleotide variant not provided [RCV001693016] Chr2:165164691 [GRCh38]
Chr2:166021201 [GRCh37]
Chr2:2q24.3		 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.1173+69G>A single nucleotide variant not provided [RCV001713226] Chr2:165155693 [GRCh38]
Chr2:166012203 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1031+181A>C single nucleotide variant not provided [RCV001681922] Chr2:165162127 [GRCh38]
Chr2:166018637 [GRCh37]
Chr2:2q24.3		 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.1031+75T>C single nucleotide variant not provided [RCV001618876] Chr2:165162233 [GRCh38]
Chr2:166018743 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2392-95G>T single nucleotide variant not provided [RCV001710466] Chr2:165131512 [GRCh38]
Chr2:165988022 [GRCh37]
Chr2:2q24.3		 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
NM_006922.4(SCN3A):c.3255C>T (p.Ile1085=) single nucleotide variant not provided [RCV003104947] Chr2:165127769 [GRCh38]
Chr2:165984279 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1361A>G (p.Lys454Arg) single nucleotide variant not provided [RCV003108650] Chr2:165154471 [GRCh38]
Chr2:166010981 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2996A>G (p.Asn999Ser) single nucleotide variant not provided [RCV001757001] Chr2:165128028 [GRCh38]
Chr2:165984538 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5254G>A (p.Val1752Ile) single nucleotide variant not provided [RCV001755034] Chr2:165090899 [GRCh38]
Chr2:165947409 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3350C>A (p.Thr1117Asn) single nucleotide variant not provided [RCV001754850] Chr2:165127674 [GRCh38]
Chr2:165984184 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4362del (p.Phe1454fs) deletion not provided [RCV001761324] Chr2:165095580 [GRCh38]
Chr2:165952090 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 copy number loss 2q24 microdeletion syndrome [RCV002271993] Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
NM_006922.4(SCN3A):c.3268T>G (p.Tyr1090Asp) single nucleotide variant not provided [RCV001763167] Chr2:165127756 [GRCh38]
Chr2:165984266 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002272905] Chr2:165091342 [GRCh38]
Chr2:165947852 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1066G>C (p.Gly356Arg) single nucleotide variant not provided [RCV001758585] Chr2:165155869 [GRCh38]
Chr2:166012379 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.217G>A (p.Val73Met) single nucleotide variant SCN3A-related condition [RCV003407784]|not provided [RCV001762764] Chr2:165176178 [GRCh38]
Chr2:166032688 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2656A>C (p.Thr886Pro) single nucleotide variant not provided [RCV001771544] Chr2:165130206 [GRCh38]
Chr2:165986716 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1094G>A (p.Ser365Asn) single nucleotide variant not provided [RCV001754662] Chr2:165155841 [GRCh38]
Chr2:166012351 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1436G>C (p.Gly479Ala) single nucleotide variant not provided [RCV001772525] Chr2:165146974 [GRCh38]
Chr2:166003484 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3724T>C (p.Tyr1242His) single nucleotide variant not provided [RCV001772528] Chr2:165113004 [GRCh38]
Chr2:165969514 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1859G>A (p.Arg620Gln) single nucleotide variant not provided [RCV001751953] Chr2:165140811 [GRCh38]
Chr2:165997321 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5621T>G (p.Met1874Arg) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001775229] Chr2:165090532 [GRCh38]
Chr2:165947042 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.1084G>A (p.Gly362Ser) single nucleotide variant not provided [RCV001764859] Chr2:165155851 [GRCh38]
Chr2:166012361 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.694+1G>T single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001775385]|not provided [RCV002541045] Chr2:165163617 [GRCh38]
Chr2:166020127 [GRCh37]
Chr2:2q24.3		 likely pathogenic|uncertain significance
NM_006922.4(SCN3A):c.3420A>C (p.Glu1140Asp) single nucleotide variant not provided [RCV001773095] Chr2:165115549 [GRCh38]
Chr2:165972059 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2702T>A (p.Met901Lys) single nucleotide variant not provided [RCV001767423] Chr2:165130160 [GRCh38]
Chr2:165986670 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2032G>A (p.Glu678Lys) single nucleotide variant not provided [RCV001767450] Chr2:165139596 [GRCh38]
Chr2:165996106 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4616A>G (p.Asn1539Ser) single nucleotide variant not provided [RCV001773313] Chr2:165092445 [GRCh38]
Chr2:165948955 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3986T>G (p.Val1329Gly) single nucleotide variant not provided [RCV001765405] Chr2:165097505 [GRCh38]
Chr2:165954015 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1756G>T (p.Asp586Tyr) single nucleotide variant not provided [RCV001762759] Chr2:165140914 [GRCh38]
Chr2:165997424 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.347C>A (p.Pro116His) single nucleotide variant not provided [RCV001767595] Chr2:165170466 [GRCh38]
Chr2:166026976 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2329A>G (p.Met777Val) single nucleotide variant not provided [RCV001752861] Chr2:165137941 [GRCh38]
Chr2:165994451 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001800244] Chr2:165091216 [GRCh38]
Chr2:165947726 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.1155G>A (p.Trp385Ter) single nucleotide variant not provided [RCV001768770] Chr2:165155780 [GRCh38]
Chr2:166012290 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3920G>C (p.Arg1307Thr) single nucleotide variant not provided [RCV001764900] Chr2:165100348 [GRCh38]
Chr2:165956858 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001800242]|not provided [RCV001869442] Chr2:165094453 [GRCh38]
Chr2:165950963 [GRCh37]
Chr2:2q24.3		 pathogenic|likely pathogenic
NM_006922.4(SCN3A):c.2791C>T (p.His931Tyr) single nucleotide variant not provided [RCV001752274] Chr2:165130071 [GRCh38]
Chr2:165986581 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2606A>G (p.Asn869Ser) single nucleotide variant not provided [RCV001765188] Chr2:165130256 [GRCh38]
Chr2:165986766 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001800241] Chr2:165130209 [GRCh38]
Chr2:165986719 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.1207T>G (p.Phe403Val) single nucleotide variant not provided [RCV001765648] Chr2:165154625 [GRCh38]
Chr2:166011135 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2351T>C (p.Met784Thr) single nucleotide variant not provided [RCV001770972] Chr2:165137919 [GRCh38]
Chr2:165994429 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5834T>C (p.Ile1945Thr) single nucleotide variant not provided [RCV001760822] Chr2:165090319 [GRCh38]
Chr2:165946829 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001800240] Chr2:165131245 [GRCh38]
Chr2:165987755 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs) deletion Developmental and epileptic encephalopathy, 62 [RCV001800243] Chr2:165094392 [GRCh38]
Chr2:165950902 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001800245] Chr2:165091147 [GRCh38]
Chr2:165947657 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.5302G>A (p.Ala1768Thr) single nucleotide variant not provided [RCV001763702] Chr2:165090851 [GRCh38]
Chr2:165947361 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001733640]|not provided [RCV003136130] Chr2:165140704 [GRCh38]
Chr2:165997214 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001800246]|Epilepsy, familial focal, with variable foci 4 [RCV002246515] Chr2:165090858 [GRCh38]
Chr2:165947368 [GRCh37]
Chr2:2q24.3		 pathogenic|likely pathogenic
NM_006922.4(SCN3A):c.4742G>A (p.Arg1581Lys) single nucleotide variant not provided [RCV001797209] Chr2:165092319 [GRCh38]
Chr2:165948829 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.809T>C (p.Met270Thr) single nucleotide variant not provided [RCV001758122] Chr2:165162714 [GRCh38]
Chr2:166019224 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.781T>A (p.Phe261Ile) single nucleotide variant not provided [RCV001758016] Chr2:165162742 [GRCh38]
Chr2:166019252 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3892G>C (p.Gly1298Arg) single nucleotide variant not provided [RCV001797518] Chr2:165100376 [GRCh38]
Chr2:165956886 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1485T>G (p.Ser495Arg) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 7 [RCV001808936] Chr2:165146925 [GRCh38]
Chr2:166003435 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2657C>T (p.Thr886Ile) single nucleotide variant not provided [RCV001816267] Chr2:165130205 [GRCh38]
Chr2:165986715 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5813T>C (p.Leu1938Ser) single nucleotide variant not provided [RCV001806642] Chr2:165090340 [GRCh38]
Chr2:165946850 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5983G>A (p.Val1995Ile) single nucleotide variant not provided [RCV001806561] Chr2:165090170 [GRCh38]
Chr2:165946680 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4448T>G (p.Ile1483Ser) single nucleotide variant not provided [RCV001806984] Chr2:165094462 [GRCh38]
Chr2:165950972 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.2794T>C (p.Ser932Pro) single nucleotide variant not provided [RCV002042491] Chr2:165130068 [GRCh38]
Chr2:165986578 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003339870]|not provided [RCV002008503] Chr2:165140830 [GRCh38]
Chr2:165997340 [GRCh37]
Chr2:2q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006922.4(SCN3A):c.448C>T (p.Pro150Ser) single nucleotide variant not provided [RCV001950213] Chr2:165168761 [GRCh38]
Chr2:166025271 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3219T>C (p.Gly1073=) single nucleotide variant not provided [RCV001985754] Chr2:165127805 [GRCh38]
Chr2:165984315 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.603-17G>C single nucleotide variant not provided [RCV001968743] Chr2:165163726 [GRCh38]
Chr2:166020236 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5600T>C (p.Met1867Thr) single nucleotide variant not provided [RCV001987724] Chr2:165090553 [GRCh38]
Chr2:165947063 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.585_586del (p.Phe195fs) deletion not provided [RCV001929945] Chr2:165164408..165164409 [GRCh38]
Chr2:166020918..166020919 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.4239+6T>C single nucleotide variant not provided [RCV001949015] Chr2:165097246 [GRCh38]
Chr2:165953756 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3750A>G (p.Ile1250Met) single nucleotide variant not provided [RCV001964513] Chr2:165112978 [GRCh38]
Chr2:165969488 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2760G>A (p.Thr920=) single nucleotide variant not provided [RCV001949671] Chr2:165130102 [GRCh38]
Chr2:165986612 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.83G>A (p.Arg28His) single nucleotide variant not provided [RCV001988185] Chr2:165176312 [GRCh38]
Chr2:166032822 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.173G>A (p.Gly58Glu) single nucleotide variant not provided [RCV002044146] Chr2:165176222 [GRCh38]
Chr2:166032732 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2922+4T>A single nucleotide variant not provided [RCV002044164] Chr2:165129936 [GRCh38]
Chr2:165986446 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3065T>A (p.Met1022Lys) single nucleotide variant not provided [RCV002041776] Chr2:165127959 [GRCh38]
Chr2:165984469 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1950C>A (p.Cys650Ter) single nucleotide variant not provided [RCV002005373] Chr2:165140720 [GRCh38]
Chr2:165997230 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296) copy number gain not specified [RCV002053259] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:165428510-166888012) copy number loss not specified [RCV002053261] Chr2:165428510..166888012 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.2050A>G (p.Arg684Gly) single nucleotide variant not provided [RCV001926496] Chr2:165139578 [GRCh38]
Chr2:165996088 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5257A>G (p.Ser1753Gly) single nucleotide variant not provided [RCV001912524] Chr2:165090896 [GRCh38]
Chr2:165947406 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3483A>C (p.Glu1161Asp) single nucleotide variant not provided [RCV001983300] Chr2:165115486 [GRCh38]
Chr2:165971996 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1972G>C (p.Gly658Arg) single nucleotide variant not provided [RCV002003081] Chr2:165140698 [GRCh38]
Chr2:165997208 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5929G>C (p.Asp1977His) single nucleotide variant not provided [RCV001891655] Chr2:165090224 [GRCh38]
Chr2:165946734 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001839115] Chr2:165146747 [GRCh38]
Chr2:166003257 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5630G>A (p.Arg1877Lys) single nucleotide variant not provided [RCV002004666] Chr2:165090523 [GRCh38]
Chr2:165947033 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5707T>A (p.Ser1903Thr) single nucleotide variant not provided [RCV001927117] Chr2:165090446 [GRCh38]
Chr2:165946956 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.686T>C (p.Val229Ala) single nucleotide variant not provided [RCV001928432] Chr2:165163626 [GRCh38]
Chr2:166020136 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(165947605_?)del deletion not provided [RCV001984678] Chr2:165946660..165947605 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.577C>T (p.Leu193=) single nucleotide variant not provided [RCV002021465] Chr2:165164417 [GRCh38]
Chr2:166020927 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.5213A>G (p.Lys1738Arg) single nucleotide variant not provided [RCV001910010] Chr2:165090940 [GRCh38]
Chr2:165947450 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1613T>C (p.Leu538Pro) single nucleotide variant not provided [RCV002041252] Chr2:165146797 [GRCh38]
Chr2:166003307 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.980T>C (p.Val327Ala) single nucleotide variant not provided [RCV001870743] Chr2:165162359 [GRCh38]
Chr2:166018869 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4100T>C (p.Met1367Thr) single nucleotide variant not provided [RCV001894132] Chr2:165097391 [GRCh38]
Chr2:165953901 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2328T>A (p.Phe776Leu) single nucleotide variant not provided [RCV001895366] Chr2:165137942 [GRCh38]
Chr2:165994452 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2153-9T>A single nucleotide variant not provided [RCV001946371] Chr2:165138126 [GRCh38]
Chr2:165994636 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5809G>T (p.Asp1937Tyr) single nucleotide variant not provided [RCV001889931] Chr2:165090344 [GRCh38]
Chr2:165946854 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3632T>C (p.Phe1211Ser) single nucleotide variant not provided [RCV001893430] Chr2:165113853 [GRCh38]
Chr2:165970363 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1447G>C (p.Glu483Gln) single nucleotide variant not provided [RCV001945768] Chr2:165146963 [GRCh38]
Chr2:166003473 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3328T>G (p.Ser1110Ala) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001823491] Chr2:165127696 [GRCh38]
Chr2:165984206 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5170C>G (p.Pro1724Ala) single nucleotide variant not provided [RCV002006972] Chr2:165090983 [GRCh38]
Chr2:165947493 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4824_4825delinsAC (p.Met1609Leu) indel not provided [RCV002044156] Chr2:165091328..165091329 [GRCh38]
Chr2:165947838..165947839 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3670-3T>C single nucleotide variant not provided [RCV001895534] Chr2:165113061 [GRCh38]
Chr2:165969571 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV001823594]|Epilepsy, familial focal, with variable foci 1 [RCV003339757]|not provided [RCV002545195] Chr2:165090206 [GRCh38]
Chr2:165946716 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2036C>T (p.Thr679Met) single nucleotide variant not provided [RCV001946023] Chr2:165139592 [GRCh38]
Chr2:165996102 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790) copy number loss not specified [RCV002053257] Chr2:161551326..167762790 [GRCh37]
Chr2:2q24.2-24.3		 pathogenic
NM_006922.4(SCN3A):c.5198C>G (p.Pro1733Arg) single nucleotide variant not provided [RCV002021336] Chr2:165090955 [GRCh38]
Chr2:165947465 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3161G>T (p.Gly1054Val) single nucleotide variant not provided [RCV001872505] Chr2:165127863 [GRCh38]
Chr2:165984373 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2180C>T (p.Pro727Leu) single nucleotide variant not provided [RCV001894607] Chr2:165138090 [GRCh38]
Chr2:165994600 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5021T>A (p.Met1674Lys) single nucleotide variant not provided [RCV001889301] Chr2:165091132 [GRCh38]
Chr2:165947642 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4332G>T (p.Met1444Ile) single nucleotide variant not provided [RCV001927133] Chr2:165095610 [GRCh38]
Chr2:165952120 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3393+3A>G single nucleotide variant not provided [RCV001986252] Chr2:165127628 [GRCh38]
Chr2:165984138 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.89C>T (p.Ala30Val) single nucleotide variant not provided [RCV001889941] Chr2:165176306 [GRCh38]
Chr2:166032816 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.3(chr2:165794558-166633875) copy number gain not specified [RCV002053262] Chr2:165794558..166633875 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.3544G>T (p.Val1182Leu) single nucleotide variant not provided [RCV001983593] Chr2:165113941 [GRCh38]
Chr2:165970451 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002226557]|not provided [RCV001984993] Chr2:165131257 [GRCh38]
Chr2:165987767 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1093A>G (p.Ser365Gly) single nucleotide variant not provided [RCV002039379] Chr2:165155842 [GRCh38]
Chr2:166012352 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5531G>T (p.Gly1844Val) single nucleotide variant not provided [RCV002003411] Chr2:165090622 [GRCh38]
Chr2:165947132 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3063G>T (p.Lys1021Asn) single nucleotide variant not provided [RCV001983857] Chr2:165127961 [GRCh38]
Chr2:165984471 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5228A>G (p.Asn1743Ser) single nucleotide variant not provided [RCV001931039] Chr2:165090925 [GRCh38]
Chr2:165947435 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2678T>C (p.Val893Ala) single nucleotide variant not provided [RCV002048094] Chr2:165130184 [GRCh38]
Chr2:165986694 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4807+8C>G single nucleotide variant not provided [RCV001963339] Chr2:165092246 [GRCh38]
Chr2:165948756 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4784T>G (p.Val1595Gly) single nucleotide variant not provided [RCV001961458] Chr2:165092277 [GRCh38]
Chr2:165948787 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5755A>G (p.Arg1919Gly) single nucleotide variant not provided [RCV001907499] Chr2:165090398 [GRCh38]
Chr2:165946908 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3892G>A (p.Gly1298Ser) single nucleotide variant not provided [RCV001916707] Chr2:165100376 [GRCh38]
Chr2:165956886 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2232T>G (p.Asp744Glu) single nucleotide variant not provided [RCV001998801] Chr2:165138038 [GRCh38]
Chr2:165994548 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5588A>C (p.Glu1863Ala) single nucleotide variant not provided [RCV001885764] Chr2:165090565 [GRCh38]
Chr2:165947075 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5218G>A (p.Asp1740Asn) single nucleotide variant not provided [RCV001963377] Chr2:165090935 [GRCh38]
Chr2:165947445 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3967-14G>A single nucleotide variant not provided [RCV001944835] Chr2:165097538 [GRCh38]
Chr2:165954048 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4751A>T (p.Tyr1584Phe) single nucleotide variant not provided [RCV001994002] Chr2:165092310 [GRCh38]
Chr2:165948820 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(166153665_?)del deletion Seizures, benign familial infantile, 3 [RCV001939426] Chr2:165946660..166153665 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.929T>C (p.Met310Thr) single nucleotide variant not provided [RCV001961931] Chr2:165162594 [GRCh38]
Chr2:166019104 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5548C>A (p.Leu1850Ile) single nucleotide variant not provided [RCV002001431] Chr2:165090605 [GRCh38]
Chr2:165947115 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.919A>C (p.Asn307His) single nucleotide variant Inborn genetic diseases [RCV002555676]|not provided [RCV001916036] Chr2:165162604 [GRCh38]
Chr2:166019114 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2155C>T (p.Leu719Phe) single nucleotide variant not provided [RCV001902881] Chr2:165138115 [GRCh38]
Chr2:165994625 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1373A>G (p.Glu458Gly) single nucleotide variant not provided [RCV001923526] Chr2:165154459 [GRCh38]
Chr2:166010969 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5612G>A (p.Arg1871Gln) single nucleotide variant not provided [RCV002010138] Chr2:165090541 [GRCh38]
Chr2:165947051 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1448A>C (p.Glu483Ala) single nucleotide variant not provided [RCV001902462] Chr2:165146962 [GRCh38]
Chr2:166003472 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.4576C>G (p.Gln1526Glu) single nucleotide variant not provided [RCV002026982] Chr2:165092485 [GRCh38]
Chr2:165948995 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1196C>T (p.Thr399Ile) single nucleotide variant not provided [RCV001899272] Chr2:165154636 [GRCh38]
Chr2:166011146 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.604T>A (p.Tyr202Asn) single nucleotide variant not provided [RCV001992727] Chr2:165163708 [GRCh38]
Chr2:166020218 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3125G>T (p.Gly1042Val) single nucleotide variant not provided [RCV002032149] Chr2:165127899 [GRCh38]
Chr2:165984409 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.532T>C (p.Phe178Leu) single nucleotide variant not provided [RCV001973079] Chr2:165164462 [GRCh38]
Chr2:166020972 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3851T>C (p.Leu1284Ser) single nucleotide variant not provided [RCV001932854] Chr2:165100417 [GRCh38]
Chr2:165956927 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1205T>C (p.Ile402Thr) single nucleotide variant Inborn genetic diseases [RCV003167430]|not provided [RCV001978752] Chr2:165154627 [GRCh38]
Chr2:166011137 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.3071A>C (p.Glu1024Ala) single nucleotide variant not provided [RCV001931544] Chr2:165127953 [GRCh38]
Chr2:165984463 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5726G>T (p.Arg1909Leu) single nucleotide variant not provided [RCV001867705] Chr2:165090427 [GRCh38]
Chr2:165946937 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.492C>G (p.Ile164Met) single nucleotide variant not provided [RCV002028719] Chr2:165164502 [GRCh38]
Chr2:166021012 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1358A>G (p.Lys453Arg) single nucleotide variant not provided [RCV002015228] Chr2:165154474 [GRCh38]
Chr2:166010984 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2070G>C (p.Gln690His) single nucleotide variant not provided [RCV001937252] Chr2:165139558 [GRCh38]
Chr2:165996068 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.601G>A (p.Ala201Thr) single nucleotide variant not provided [RCV001897123] Chr2:165164393 [GRCh38]
Chr2:166020903 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3127A>G (p.Asn1043Asp) single nucleotide variant not provided [RCV002011041] Chr2:165127897 [GRCh38]
Chr2:165984407 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.239T>G (p.Leu80Arg) single nucleotide variant not provided [RCV001875404] Chr2:165176156 [GRCh38]
Chr2:166032666 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.44G>T (p.Arg15Leu) single nucleotide variant not provided [RCV001878244] Chr2:165176351 [GRCh38]
Chr2:166032861 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5831T>C (p.Met1944Thr) single nucleotide variant not provided [RCV001902321] Chr2:165090322 [GRCh38]
Chr2:165946832 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.849C>T (p.Ser283=) single nucleotide variant not provided [RCV001877164] Chr2:165162674 [GRCh38]
Chr2:166019184 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.55A>G (p.Arg19Gly) single nucleotide variant Inborn genetic diseases [RCV003348600]|not provided [RCV001901324] Chr2:165176340 [GRCh38]
Chr2:166032850 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3555A>C (p.Glu1185Asp) single nucleotide variant not provided [RCV001990755] Chr2:165113930 [GRCh38]
Chr2:165970440 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2263T>A (p.Leu755Ile) single nucleotide variant not provided [RCV001989573] Chr2:165138007 [GRCh38]
Chr2:165994517 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(166898954_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001916374] Chr2:165946660..166898954 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2681T>C (p.Phe894Ser) single nucleotide variant not provided [RCV002046606] Chr2:165130181 [GRCh38]
Chr2:165986691 [GRCh37]
Chr2:2q24.3		 likely pathogenic|uncertain significance
NM_006922.4(SCN3A):c.4681A>G (p.Ile1561Val) single nucleotide variant not provided [RCV001998771] Chr2:165092380 [GRCh38]
Chr2:165948890 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5155C>A (p.Leu1719Ile) single nucleotide variant not provided [RCV001880308] Chr2:165090998 [GRCh38]
Chr2:165947508 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1579G>A (p.Glu527Lys) single nucleotide variant not provided [RCV001899263] Chr2:165146831 [GRCh38]
Chr2:166003341 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.3536T>C (p.Phe1179Ser) single nucleotide variant not provided [RCV001916651] Chr2:165113949 [GRCh38]
Chr2:165970459 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3494C>A (p.Pro1165Gln) single nucleotide variant not provided [RCV001989913] Chr2:165115475 [GRCh38]
Chr2:165971985 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2089G>A (p.Glu697Lys) single nucleotide variant not provided [RCV002010528] Chr2:165139539 [GRCh38]
Chr2:165996049 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5993A>G (p.Asn1998Ser) single nucleotide variant not provided [RCV002030992] Chr2:165090160 [GRCh38]
Chr2:165946670 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4274C>A (p.Ala1425Glu) single nucleotide variant not provided [RCV001981846] Chr2:165096486 [GRCh38]
Chr2:165952996 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3188A>T (p.Tyr1063Phe) single nucleotide variant not provided [RCV001886371] Chr2:165127836 [GRCh38]
Chr2:165984346 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4764C>T (p.Gly1588=) single nucleotide variant not provided [RCV001920773] Chr2:165092297 [GRCh38]
Chr2:165948807 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.5536C>T (p.Arg1846Trp) single nucleotide variant not provided [RCV001921690] Chr2:165090617 [GRCh38]
Chr2:165947127 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3941C>G (p.Ala1314Gly) single nucleotide variant not provided [RCV001939856] Chr2:165100327 [GRCh38]
Chr2:165956837 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1594G>A (p.Val532Ile) single nucleotide variant not provided [RCV002033143] Chr2:165146816 [GRCh38]
Chr2:166003326 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.180C>A (p.Asn60Lys) single nucleotide variant not provided [RCV001961063] Chr2:165176215 [GRCh38]
Chr2:166032725 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5689C>T (p.Arg1897Cys) single nucleotide variant not provided [RCV001996631] Chr2:165090464 [GRCh38]
Chr2:165946974 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.527G>C (p.Arg176Thr) single nucleotide variant not provided [RCV001883443] Chr2:165164467 [GRCh38]
Chr2:166020977 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3327G>C (p.Glu1109Asp) single nucleotide variant not provided [RCV002009572] Chr2:165127697 [GRCh38]
Chr2:165984207 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3798A>G (p.Thr1266=) single nucleotide variant not provided [RCV001991612] Chr2:165112930 [GRCh38]
Chr2:165969440 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.1516AGA[1] (p.Arg507del) microsatellite not provided [RCV001952414] Chr2:165146889..165146891 [GRCh38]
Chr2:166003399..166003401 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4288C>T (p.Arg1430Ter) single nucleotide variant not provided [RCV001977207] Chr2:165096472 [GRCh38]
Chr2:165952982 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2425C>T (p.Leu809Phe) single nucleotide variant not provided [RCV001923561] Chr2:165131384 [GRCh38]
Chr2:165987894 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1985C>T (p.Ala662Val) single nucleotide variant not provided [RCV001989130] Chr2:165140685 [GRCh38]
Chr2:165997195 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(167168266_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001940047] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5385G>A (p.Glu1795=) single nucleotide variant not provided [RCV001935781] Chr2:165090768 [GRCh38]
Chr2:165947278 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2768G>A (p.Arg923Gln) single nucleotide variant not provided [RCV002019793] Chr2:165130094 [GRCh38]
Chr2:165986604 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2116G>A (p.Val706Met) single nucleotide variant not provided [RCV001930891] Chr2:165139512 [GRCh38]
Chr2:165996022 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1373A>C (p.Glu458Ala) single nucleotide variant not provided [RCV001905133] Chr2:165154459 [GRCh38]
Chr2:166010969 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5987G>C (p.Arg1996Thr) single nucleotide variant not provided [RCV001939107] Chr2:165090166 [GRCh38]
Chr2:165946676 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3970G>T (p.Val1324Phe) single nucleotide variant not provided [RCV002034059] Chr2:165097521 [GRCh38]
Chr2:165954031 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.145C>T (p.Pro49Ser) single nucleotide variant not provided [RCV001998795] Chr2:165176250 [GRCh38]
Chr2:166032760 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1198T>C (p.Tyr400His) single nucleotide variant not provided [RCV001980313] Chr2:165154634 [GRCh38]
Chr2:166011144 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3950G>A (p.Arg1317Gln) single nucleotide variant not provided [RCV001884711] Chr2:165100318 [GRCh38]
Chr2:165956828 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.962A>T (p.Asp321Val) single nucleotide variant not provided [RCV001905694] Chr2:165162561 [GRCh38]
Chr2:166019071 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4042_4043del (p.Ile1348fs) deletion not provided [RCV001884806] Chr2:165097448..165097449 [GRCh38]
Chr2:165953958..165953959 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5989_5990del (p.Glu1997fs) microsatellite not provided [RCV001974613] Chr2:165090163..165090164 [GRCh38]
Chr2:165946673..165946674 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2846G>C (p.Trp949Ser) single nucleotide variant not provided [RCV002036075] Chr2:165130016 [GRCh38]
Chr2:165986526 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4G>A (p.Ala2Thr) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003224590]|not provided [RCV001919401] Chr2:165176391 [GRCh38]
Chr2:166032901 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.407G>A (p.Cys136Tyr) single nucleotide variant not provided [RCV002031706] Chr2:165168802 [GRCh38]
Chr2:166025312 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2138C>T (p.Thr713Ile) single nucleotide variant not provided [RCV001977627] Chr2:165139490 [GRCh38]
Chr2:165996000 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5888C>T (p.Ser1963Phe) single nucleotide variant not provided [RCV001973232] Chr2:165090265 [GRCh38]
Chr2:165946775 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.602C>T (p.Ala201Val) single nucleotide variant not provided [RCV001878423] Chr2:165164392 [GRCh38]
Chr2:166020902 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.22C>T (p.Pro8Ser) single nucleotide variant SCN3A-related condition [RCV003911054]|not provided [RCV001866360] Chr2:165176373 [GRCh38]
Chr2:166032883 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4523T>C (p.Ile1508Thr) single nucleotide variant not provided [RCV001975822] Chr2:165094387 [GRCh38]
Chr2:165950897 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2108A>G (p.Gln703Arg) single nucleotide variant not provided [RCV002046406] Chr2:165139520 [GRCh38]
Chr2:165996030 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5789A>G (p.Glu1930Gly) single nucleotide variant not provided [RCV001898714] Chr2:165090364 [GRCh38]
Chr2:165946874 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2759C>T (p.Thr920Met) single nucleotide variant not provided [RCV001917189] Chr2:165130103 [GRCh38]
Chr2:165986613 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5755A>T (p.Arg1919Trp) single nucleotide variant not provided [RCV001923277] Chr2:165090398 [GRCh38]
Chr2:165946908 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4017G>T (p.Leu1339=) single nucleotide variant not provided [RCV002091949] Chr2:165097474 [GRCh38]
Chr2:165953984 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4293+13C>T single nucleotide variant not provided [RCV002205840] Chr2:165096454 [GRCh38]
Chr2:165952964 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3231A>C (p.Gly1077=) single nucleotide variant not provided [RCV002168202] Chr2:165127793 [GRCh38]
Chr2:165984303 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.651A>G (p.Thr217=) single nucleotide variant not provided [RCV002110251] Chr2:165163661 [GRCh38]
Chr2:166020171 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.265-17C>T single nucleotide variant not provided [RCV002075872] Chr2:165170565 [GRCh38]
Chr2:166027075 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.4644T>C (p.Asp1548=) single nucleotide variant not provided [RCV002090661] Chr2:165092417 [GRCh38]
Chr2:165948927 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.602+11T>C single nucleotide variant not provided [RCV002207530] Chr2:165164381 [GRCh38]
Chr2:166020891 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1174-15C>T single nucleotide variant not provided [RCV002205061] Chr2:165154673 [GRCh38]
Chr2:166011183 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2923-10T>C single nucleotide variant not provided [RCV002111044] Chr2:165128111 [GRCh38]
Chr2:165984621 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1020C>A (p.Gly340=) single nucleotide variant not provided [RCV002109706] Chr2:165162319 [GRCh38]
Chr2:166018829 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1380+8G>A single nucleotide variant not provided [RCV002075182] Chr2:165154444 [GRCh38]
Chr2:166010954 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4808-17T>C single nucleotide variant not provided [RCV002088034] Chr2:165091362 [GRCh38]
Chr2:165947872 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.882C>T (p.Tyr294=) single nucleotide variant not provided [RCV002092693] Chr2:165162641 [GRCh38]
Chr2:166019151 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4464A>G (p.Glu1488=) single nucleotide variant not provided [RCV002092124] Chr2:165094446 [GRCh38]
Chr2:165950956 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2766A>G (p.Pro922=) single nucleotide variant not provided [RCV002111417] Chr2:165130096 [GRCh38]
Chr2:165986606 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4272T>C (p.Tyr1424=) single nucleotide variant not provided [RCV002144866] Chr2:165096488 [GRCh38]
Chr2:165952998 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3515-14T>C single nucleotide variant not provided [RCV002192488] Chr2:165113984 [GRCh38]
Chr2:165970494 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4537-9A>G single nucleotide variant not provided [RCV002188991] Chr2:165092533 [GRCh38]
Chr2:165949043 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002208777] Chr2:165090419 [GRCh38]
Chr2:165946929 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.264+7A>G single nucleotide variant not provided [RCV002071798] Chr2:165176124 [GRCh38]
Chr2:166032634 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2160A>C (p.Glu720Asp) single nucleotide variant not provided [RCV002165560] Chr2:165138110 [GRCh38]
Chr2:165994620 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4248T>C (p.Phe1416=) single nucleotide variant not provided [RCV002145856] Chr2:165096512 [GRCh38]
Chr2:165953022 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.-50-2312T>C single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002227648] Chr2:165178756 [GRCh38]
Chr2:166035266 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4293+12_4293+13del deletion not provided [RCV002191847] Chr2:165096454..165096455 [GRCh38]
Chr2:165952964..165952965 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3053T>C (p.Val1018Ala) single nucleotide variant not provided [RCV002074526] Chr2:165127971 [GRCh38]
Chr2:165984481 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4929G>A (p.Thr1643=) single nucleotide variant not provided [RCV002209872] Chr2:165091224 [GRCh38]
Chr2:165947734 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2922+19T>A single nucleotide variant not provided [RCV002130043] Chr2:165129921 [GRCh38]
Chr2:165986431 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.687C>G (p.Val229=) single nucleotide variant not provided [RCV002130054] Chr2:165163625 [GRCh38]
Chr2:166020135 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2152+12G>A single nucleotide variant not provided [RCV002189018] Chr2:165139464 [GRCh38]
Chr2:165995974 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2152+9C>A single nucleotide variant not provided [RCV002210537] Chr2:165139467 [GRCh38]
Chr2:165995977 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1431G>C (p.Gly477=) single nucleotide variant not provided [RCV002075722] Chr2:165146979 [GRCh38]
Chr2:166003489 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1173+17C>A single nucleotide variant not provided [RCV002080698] Chr2:165155745 [GRCh38]
Chr2:166012255 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2367T>C (p.Ser789=) single nucleotide variant not provided [RCV002086553] Chr2:165137903 [GRCh38]
Chr2:165994413 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4098C>T (p.Asn1366=) single nucleotide variant not provided [RCV002193527] Chr2:165097393 [GRCh38]
Chr2:165953903 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1031+7A>G single nucleotide variant not provided [RCV002174258] Chr2:165162301 [GRCh38]
Chr2:166018811 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.820A>C (p.Arg274=) single nucleotide variant not provided [RCV002152985] Chr2:165162703 [GRCh38]
Chr2:166019213 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4432-14T>C single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002494155]|not provided [RCV002087874] Chr2:165094492 [GRCh38]
Chr2:165951002 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.265-16G>A single nucleotide variant not provided [RCV002146068] Chr2:165170564 [GRCh38]
Chr2:166027074 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.602+13G>A single nucleotide variant not provided [RCV002096333] Chr2:165164379 [GRCh38]
Chr2:166020889 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2565+12T>C single nucleotide variant not provided [RCV002175003] Chr2:165131232 [GRCh38]
Chr2:165987742 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2565+13_2565+18del microsatellite not provided [RCV002087089] Chr2:165131226..165131231 [GRCh38]
Chr2:165987736..165987741 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1031+11_1031+12del deletion not provided [RCV002194061] Chr2:165162296..165162297 [GRCh38]
Chr2:166018806..166018807 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3967-19C>A single nucleotide variant not provided [RCV002164874] Chr2:165097543 [GRCh38]
Chr2:165954053 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2019+15C>T single nucleotide variant not provided [RCV002088235] Chr2:165140636 [GRCh38]
Chr2:165997146 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4431+13T>C single nucleotide variant not provided [RCV002078577] Chr2:165095498 [GRCh38]
Chr2:165952008 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.968-11del deletion not provided [RCV002195318] Chr2:165162382 [GRCh38]
Chr2:166018892 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2715T>G (p.Gly905=) single nucleotide variant not provided [RCV002194503] Chr2:165130147 [GRCh38]
Chr2:165986657 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1584T>C (p.Ser528=) single nucleotide variant not provided [RCV002096515] Chr2:165146826 [GRCh38]
Chr2:166003336 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2565+14T>C single nucleotide variant not provided [RCV002134178] Chr2:165131230 [GRCh38]
Chr2:165987740 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1174-17T>A single nucleotide variant not provided [RCV002073679] Chr2:165154675 [GRCh38]
Chr2:166011185 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4239+18G>A single nucleotide variant not provided [RCV002133622] Chr2:165097234 [GRCh38]
Chr2:165953744 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3967-17C>T single nucleotide variant not provided [RCV002115341] Chr2:165097541 [GRCh38]
Chr2:165954051 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2020-17C>A single nucleotide variant not provided [RCV002132510] Chr2:165139625 [GRCh38]
Chr2:165996135 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2391+13G>T single nucleotide variant not provided [RCV002205962] Chr2:165137866 [GRCh38]
Chr2:165994376 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.968-19T>G single nucleotide variant not provided [RCV002114688] Chr2:165162390 [GRCh38]
Chr2:166018900 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.383+16G>A single nucleotide variant not provided [RCV002194153] Chr2:165170414 [GRCh38]
Chr2:166026924 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4432-5T>G single nucleotide variant not provided [RCV002095977] Chr2:165094483 [GRCh38]
Chr2:165950993 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1263T>C (p.Ala421=) single nucleotide variant not provided [RCV002076181] Chr2:165154569 [GRCh38]
Chr2:166011079 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2565+19C>G single nucleotide variant not provided [RCV002215281] Chr2:165131225 [GRCh38]
Chr2:165987735 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5800G>A (p.Gly1934Arg) single nucleotide variant not provided [RCV002214169] Chr2:165090353 [GRCh38]
Chr2:165946863 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1215C>T (p.Val405=) single nucleotide variant not provided [RCV002214170] Chr2:165154617 [GRCh38]
Chr2:166011127 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1174-15C>A single nucleotide variant not provided [RCV002212642] Chr2:165154673 [GRCh38]
Chr2:166011183 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.238C>T (p.Leu80=) single nucleotide variant not provided [RCV002213319] Chr2:165176157 [GRCh38]
Chr2:166032667 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1174-7C>T single nucleotide variant not provided [RCV002095519] Chr2:165154665 [GRCh38]
Chr2:166011175 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4239+10T>C single nucleotide variant not provided [RCV002171851] Chr2:165097242 [GRCh38]
Chr2:165953752 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1380+12T>C single nucleotide variant not provided [RCV002194846] Chr2:165154440 [GRCh38]
Chr2:166010950 [GRCh37]
Chr2:2q24.3		 benign|likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006922.4(SCN3A):c.4029C>G (p.Leu1343=) single nucleotide variant not provided [RCV002153444] Chr2:165097462 [GRCh38]
Chr2:165953972 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2520T>C (p.Gly840=) single nucleotide variant SCN3A-related condition [RCV003913521]|not provided [RCV002166995] Chr2:165131289 [GRCh38]
Chr2:165987799 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1593C>T (p.Ser531=) single nucleotide variant not provided [RCV002138878] Chr2:165146817 [GRCh38]
Chr2:166003327 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5631G>A (p.Arg1877=) single nucleotide variant not provided [RCV002203231] Chr2:165090522 [GRCh38]
Chr2:165947032 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.694+15A>G single nucleotide variant not provided [RCV002099734] Chr2:165163603 [GRCh38]
Chr2:166020113 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4294-13C>T single nucleotide variant not provided [RCV002197990] Chr2:165095661 [GRCh38]
Chr2:165952171 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1434A>G (p.Leu478=) single nucleotide variant not provided [RCV002119599] Chr2:165146976 [GRCh38]
Chr2:166003486 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4807+11C>T single nucleotide variant not provided [RCV002216798] Chr2:165092243 [GRCh38]
Chr2:165948753 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3669+13C>T single nucleotide variant not provided [RCV002118017] Chr2:165113803 [GRCh38]
Chr2:165970313 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.3672C>A (p.Ala1224=) single nucleotide variant not provided [RCV002100214] Chr2:165113056 [GRCh38]
Chr2:165969566 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4215T>C (p.Ala1405=) single nucleotide variant not provided [RCV002082042] Chr2:165097276 [GRCh38]
Chr2:165953786 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2565+19C>T single nucleotide variant not provided [RCV002158722] Chr2:165131225 [GRCh38]
Chr2:165987735 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4432-12C>G single nucleotide variant not provided [RCV002161034] Chr2:165094490 [GRCh38]
Chr2:165951000 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3586C>A (p.Arg1196=) single nucleotide variant not provided [RCV002084500] Chr2:165113899 [GRCh38]
Chr2:165970409 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3670-16T>C single nucleotide variant not provided [RCV002177267] Chr2:165113074 [GRCh38]
Chr2:165969584 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2622C>A (p.Ile874=) single nucleotide variant SCN3A-related condition [RCV003895997]|not provided [RCV002154205] Chr2:165130240 [GRCh38]
Chr2:165986750 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.694+9T>C single nucleotide variant not provided [RCV002141745] Chr2:165163609 [GRCh38]
Chr2:166020119 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4431+17T>G single nucleotide variant not provided [RCV002154772] Chr2:165095494 [GRCh38]
Chr2:165952004 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2163A>G (p.Glu721=) single nucleotide variant not provided [RCV002122316] Chr2:165138107 [GRCh38]
Chr2:165994617 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3669+14A>G single nucleotide variant not provided [RCV002138398] Chr2:165113802 [GRCh38]
Chr2:165970312 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3456T>G (p.Gly1152=) single nucleotide variant not provided [RCV002102926] Chr2:165115513 [GRCh38]
Chr2:165972023 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3844-11del deletion not provided [RCV002201115] Chr2:165100435 [GRCh38]
Chr2:165956945 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1122G>T (p.Leu374=) single nucleotide variant not provided [RCV002155610] Chr2:165155813 [GRCh38]
Chr2:166012323 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.694+12G>C single nucleotide variant not provided [RCV002162693] Chr2:165163606 [GRCh38]
Chr2:166020116 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5940G>A (p.Lys1980=) single nucleotide variant not provided [RCV002218259] Chr2:165090213 [GRCh38]
Chr2:165946723 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.967+17T>A single nucleotide variant not provided [RCV002144046] Chr2:165162539 [GRCh38]
Chr2:166019049 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4239+17C>T single nucleotide variant not provided [RCV002097793] Chr2:165097235 [GRCh38]
Chr2:165953745 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5301C>T (p.Ile1767=) single nucleotide variant not provided [RCV002157606] Chr2:165090852 [GRCh38]
Chr2:165947362 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4341C>T (p.Tyr1447=) single nucleotide variant not provided [RCV002201645] Chr2:165095601 [GRCh38]
Chr2:165952111 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3967-15C>T single nucleotide variant not provided [RCV002122930] Chr2:165097539 [GRCh38]
Chr2:165954049 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.968-11dup duplication not provided [RCV002177519] Chr2:165162381..165162382 [GRCh38]
Chr2:166018891..166018892 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.3514+20A>T single nucleotide variant not provided [RCV002200190] Chr2:165115435 [GRCh38]
Chr2:165971945 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5100C>A (p.Ile1700=) single nucleotide variant not provided [RCV002184732] Chr2:165091053 [GRCh38]
Chr2:165947563 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2392-20T>C single nucleotide variant not provided [RCV002140964] Chr2:165131437 [GRCh38]
Chr2:165987947 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.695-4G>A single nucleotide variant SCN3A-related condition [RCV003913702]|not provided [RCV002120096] Chr2:165162832 [GRCh38]
Chr2:166019342 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4294-7C>T single nucleotide variant not provided [RCV002183042] Chr2:165095655 [GRCh38]
Chr2:165952165 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1257C>A (p.Ile419=) single nucleotide variant not provided [RCV002200608] Chr2:165154575 [GRCh38]
Chr2:166011085 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2724C>T (p.Tyr908=) single nucleotide variant not provided [RCV002217420] Chr2:165130138 [GRCh38]
Chr2:165986648 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3966+8G>C single nucleotide variant not provided [RCV002139884] Chr2:165100294 [GRCh38]
Chr2:165956804 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1432T>C (p.Leu478=) single nucleotide variant not provided [RCV002157458] Chr2:165146978 [GRCh38]
Chr2:166003488 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.967+14C>T single nucleotide variant not provided [RCV002137067] Chr2:165162542 [GRCh38]
Chr2:166019052 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1326G>A (p.Glu442=) single nucleotide variant not provided [RCV002177039] Chr2:165154506 [GRCh38]
Chr2:166011016 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3495G>T (p.Pro1165=) single nucleotide variant not provided [RCV002097904] Chr2:165115474 [GRCh38]
Chr2:165971984 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2481T>C (p.Phe827=) single nucleotide variant not provided [RCV002177162] Chr2:165131328 [GRCh38]
Chr2:165987838 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4294-7C>G single nucleotide variant not provided [RCV002100086] Chr2:165095655 [GRCh38]
Chr2:165952165 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.906T>C (p.Asn302=) single nucleotide variant not provided [RCV002203676] Chr2:165162617 [GRCh38]
Chr2:166019127 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3966+20T>C single nucleotide variant not provided [RCV002179624] Chr2:165100282 [GRCh38]
Chr2:165956792 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4808-20G>A single nucleotide variant not provided [RCV002220995] Chr2:165091365 [GRCh38]
Chr2:165947875 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3327G>A (p.Glu1109=) single nucleotide variant not provided [RCV002103928] Chr2:165127697 [GRCh38]
Chr2:165984207 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5415C>A (p.Thr1805=) single nucleotide variant not provided [RCV002220986] Chr2:165090738 [GRCh38]
Chr2:165947248 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.807C>T (p.Phe269=) single nucleotide variant not provided [RCV002098799] Chr2:165162716 [GRCh38]
Chr2:166019226 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1173+19T>A single nucleotide variant not provided [RCV002181496] Chr2:165155743 [GRCh38]
Chr2:166012253 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3844-20A>T single nucleotide variant not provided [RCV002154916] Chr2:165100444 [GRCh38]
Chr2:165956954 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5004C>A (p.Ile1668=) single nucleotide variant not provided [RCV002160638] Chr2:165091149 [GRCh38]
Chr2:165947659 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1572C>T (p.Pro524=) single nucleotide variant not provided [RCV002159109] Chr2:165146838 [GRCh38]
Chr2:166003348 [GRCh37]
Chr2:2q24.3		 likely benign
NC_000002.11:g.(?_166018798)_(166246334_?)dup duplication not provided [RCV003109592] Chr2:166018798..166246334 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165984121)_(166246334_?)dup duplication not provided [RCV003109593] Chr2:165984121..166246334 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5989G>T (p.Glu1997Ter) single nucleotide variant not provided [RCV003110112] Chr2:165090164 [GRCh38]
Chr2:165946674 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4972A>G (p.Ile1658Val) single nucleotide variant not provided [RCV003112422] Chr2:165091181 [GRCh38]
Chr2:165947691 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(167108415_?)del deletion Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113168] Chr2:165946660..167108415 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.2290C>T (p.Leu764Phe) single nucleotide variant not provided [RCV003117260] Chr2:165137980 [GRCh38]
Chr2:165994490 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4962G>A (p.Ala1654=) single nucleotide variant not provided [RCV003115039] Chr2:165091191 [GRCh38]
Chr2:165947701 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2747A>G (p.Asn916Ser) single nucleotide variant not provided [RCV003129363] Chr2:165130115 [GRCh38]
Chr2:165986625 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5606C>T (p.Ala1869Val) single nucleotide variant not provided [RCV002260819] Chr2:165090547 [GRCh38]
Chr2:165947057 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3586C>T (p.Arg1196Ter) single nucleotide variant not provided [RCV002263221] Chr2:165113899 [GRCh38]
Chr2:165970409 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.603-153G>A single nucleotide variant not provided [RCV002293024] Chr2:165163862 [GRCh38]
Chr2:166020372 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.1637T>G (p.Leu546Arg) single nucleotide variant not provided [RCV002288171] Chr2:165146773 [GRCh38]
Chr2:166003283 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2264T>C (p.Leu755Ser) single nucleotide variant Seizure [RCV002275922] Chr2:165138006 [GRCh38]
Chr2:165994516 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4331T>C (p.Met1444Thr) single nucleotide variant not provided [RCV002265283] Chr2:165095611 [GRCh38]
Chr2:165952121 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4318G>A (p.Glu1440Lys) single nucleotide variant Seizure [RCV002276348] Chr2:165095624 [GRCh38]
Chr2:165952134 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5508C>T (p.Ala1836=) single nucleotide variant not provided [RCV002269719] Chr2:165090645 [GRCh38]
Chr2:165947155 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1664C>T (p.Pro555Leu) single nucleotide variant not provided [RCV002283059] Chr2:165146746 [GRCh38]
Chr2:166003256 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1560A>T (p.Arg520Ser) single nucleotide variant not provided [RCV002293777] Chr2:165146850 [GRCh38]
Chr2:166003360 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3507T>A (p.Phe1169Leu) single nucleotide variant not provided [RCV002285949] Chr2:165115462 [GRCh38]
Chr2:165971972 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.125A>G (p.Asp42Gly) single nucleotide variant not provided [RCV002292163] Chr2:165176270 [GRCh38]
Chr2:166032780 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2713G>C (p.Gly905Arg) single nucleotide variant not provided [RCV003236057] Chr2:165130149 [GRCh38]
Chr2:165986659 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1 copy number loss Epilepsy of infancy with migrating focal seizures [RCV002286319] Chr2:165155128..166062451 [GRCh38]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.2780A>G (p.Asn927Ser) single nucleotide variant not provided [RCV002288084] Chr2:165130082 [GRCh38]
Chr2:165986592 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3197A>G (p.Asp1066Gly) single nucleotide variant not provided [RCV002291833] Chr2:165127827 [GRCh38]
Chr2:165984337 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5027A>T (p.Asn1676Ile) single nucleotide variant not provided [RCV003237162] Chr2:165091126 [GRCh38]
Chr2:165947636 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1298C>T (p.Ala433Val) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002291142] Chr2:165154534 [GRCh38]
Chr2:166011044 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2754C>G (p.Asp918Glu) single nucleotide variant not provided [RCV002273605] Chr2:165130108 [GRCh38]
Chr2:165986618 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5563G>C (p.Ala1855Pro) single nucleotide variant not provided [RCV002283187] Chr2:165090590 [GRCh38]
Chr2:165947100 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5684T>C (p.Leu1895Ser) single nucleotide variant not provided [RCV003236081] Chr2:165090469 [GRCh38]
Chr2:165946979 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.603-119C>T single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV002287865] Chr2:165163828 [GRCh38]
Chr2:166020338 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5465C>T (p.Pro1822Leu) single nucleotide variant not provided [RCV002297675] Chr2:165090688 [GRCh38]
Chr2:165947198 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3107_3112del (p.Val1036_Ile1037del) deletion not provided [RCV002283228] Chr2:165127912..165127917 [GRCh38]
Chr2:165984422..165984427 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4345_4346dup (p.Ile1450fs) duplication not provided [RCV003152149] Chr2:165095595..165095596 [GRCh38]
Chr2:165952105..165952106 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4431+10C>A single nucleotide variant not provided [RCV002837492] Chr2:165095501 [GRCh38]
Chr2:165952011 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1827del (p.Ser610fs) deletion not provided [RCV002469772] Chr2:165140843 [GRCh38]
Chr2:165997353 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5792C>T (p.Ala1931Val) single nucleotide variant not provided [RCV002474153] Chr2:165090361 [GRCh38]
Chr2:165946871 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1336C>A (p.Gln446Lys) single nucleotide variant not provided [RCV002474203] Chr2:165154496 [GRCh38]
Chr2:166011006 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2186G>A (p.Cys729Tyr) single nucleotide variant not provided [RCV002464938] Chr2:165138084 [GRCh38]
Chr2:165994594 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3368A>G (p.Glu1123Gly) single nucleotide variant not provided [RCV002303665] Chr2:165127656 [GRCh38]
Chr2:165984166 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4847C>G (p.Ser1616Cys) single nucleotide variant not provided [RCV002303726] Chr2:165091306 [GRCh38]
Chr2:165947816 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3773A>G (p.Lys1258Arg) single nucleotide variant not provided [RCV002303820] Chr2:165112955 [GRCh38]
Chr2:165969465 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4484C>T (p.Ala1495Val) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV002470629] Chr2:165094426 [GRCh38]
Chr2:165950936 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2024C>A (p.Thr675Asn) single nucleotide variant not provided [RCV003129258] Chr2:165139604 [GRCh38]
Chr2:165996114 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1136T>C (p.Leu379Pro) single nucleotide variant not provided [RCV002474143] Chr2:165155799 [GRCh38]
Chr2:166012309 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.595G>A (p.Val199Met) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV002466817] Chr2:165164399 [GRCh38]
Chr2:166020909 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4596C>G (p.Ile1532Met) single nucleotide variant not provided [RCV002304091] Chr2:165092465 [GRCh38]
Chr2:165948975 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2384G>A (p.Gly795Glu) single nucleotide variant not provided [RCV002304111] Chr2:165137886 [GRCh38]
Chr2:165994396 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5631G>T (p.Arg1877Ser) single nucleotide variant not provided [RCV002298298] Chr2:165090522 [GRCh38]
Chr2:165947032 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5065A>G (p.Met1689Val) single nucleotide variant not provided [RCV002304458] Chr2:165091088 [GRCh38]
Chr2:165947598 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3401A>C (p.Asn1134Thr) single nucleotide variant not provided [RCV002304615] Chr2:165115568 [GRCh38]
Chr2:165972078 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3041G>A (p.Gly1014Glu) single nucleotide variant not provided [RCV002298384] Chr2:165127983 [GRCh38]
Chr2:165984493 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.967A>G (p.Ser323Gly) single nucleotide variant not provided [RCV002304964] Chr2:165162556 [GRCh38]
Chr2:166019066 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3863T>C (p.Val1288Ala) single nucleotide variant not provided [RCV002303710] Chr2:165100405 [GRCh38]
Chr2:165956915 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2816T>A (p.Val939Glu) single nucleotide variant not provided [RCV002300297] Chr2:165130046 [GRCh38]
Chr2:165986556 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5097G>T (p.Met1699Ile) single nucleotide variant not provided [RCV002300842] Chr2:165091056 [GRCh38]
Chr2:165947566 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4178G>A (p.Trp1393Ter) single nucleotide variant not provided [RCV002300863] Chr2:165097313 [GRCh38]
Chr2:165953823 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1681A>G (p.Ser561Gly) single nucleotide variant not provided [RCV002300351] Chr2:165140989 [GRCh38]
Chr2:165997499 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3377T>C (p.Leu1126Pro) single nucleotide variant not provided [RCV002306176] Chr2:165127647 [GRCh38]
Chr2:165984157 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5647C>A (p.Pro1883Thr) single nucleotide variant not provided [RCV002299510] Chr2:165090506 [GRCh38]
Chr2:165947016 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.446A>G (p.Asn149Ser) single nucleotide variant not provided [RCV002296442] Chr2:165168763 [GRCh38]
Chr2:166025273 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.487G>A (p.Gly163Arg) single nucleotide variant not provided [RCV002299630] Chr2:165164507 [GRCh38]
Chr2:166021017 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3158C>T (p.Thr1053Ile) single nucleotide variant not provided [RCV002296520] Chr2:165127866 [GRCh38]
Chr2:165984376 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5975G>T (p.Gly1992Val) single nucleotide variant not provided [RCV002298268] Chr2:165090178 [GRCh38]
Chr2:165946688 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5489A>G (p.Asn1830Ser) single nucleotide variant not provided [RCV002299742] Chr2:165090664 [GRCh38]
Chr2:165947174 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3763A>G (p.Met1255Val) single nucleotide variant not provided [RCV002299901] Chr2:165112965 [GRCh38]
Chr2:165969475 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3577T>C (p.Trp1193Arg) single nucleotide variant not provided [RCV002296372] Chr2:165113908 [GRCh38]
Chr2:165970418 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1886G>T (p.Ser629Ile) single nucleotide variant not provided [RCV002299974] Chr2:165140784 [GRCh38]
Chr2:165997294 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4486A>G (p.Met1496Val) single nucleotide variant not provided [RCV002308971] Chr2:165094424 [GRCh38]
Chr2:165950934 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3346A>T (p.Asn1116Tyr) single nucleotide variant not provided [RCV002301892] Chr2:165127678 [GRCh38]
Chr2:165984188 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3841G>A (p.Asp1281Asn) single nucleotide variant not provided [RCV002302952] Chr2:165112887 [GRCh38]
Chr2:165969397 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5984T>A (p.Val1995Asp) single nucleotide variant not provided [RCV002300033] Chr2:165090169 [GRCh38]
Chr2:165946679 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3043A>G (p.Ile1015Val) single nucleotide variant not provided [RCV002294765] Chr2:165127981 [GRCh38]
Chr2:165984491 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5449G>C (p.Ala1817Pro) single nucleotide variant not provided [RCV002301320] Chr2:165090704 [GRCh38]
Chr2:165947214 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1709G>T (p.Arg570Ile) single nucleotide variant not provided [RCV002295831] Chr2:165140961 [GRCh38]
Chr2:165997471 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1754A>G (p.Lys585Arg) single nucleotide variant not provided [RCV002296829] Chr2:165140916 [GRCh38]
Chr2:165997426 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.739C>A (p.Leu247Ile) single nucleotide variant not provided [RCV002880353] Chr2:165162784 [GRCh38]
Chr2:166019294 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1260G>C (p.Leu420=) single nucleotide variant not provided [RCV002861475] Chr2:165154572 [GRCh38]
Chr2:166011082 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3301G>A (p.Val1101Ile) single nucleotide variant not provided [RCV002904639] Chr2:165127723 [GRCh38]
Chr2:165984233 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV002510664] Chr2:165091106 [GRCh38]
Chr2:165947616 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1632C>G (p.Asn544Lys) single nucleotide variant not provided [RCV002462748] Chr2:165146778 [GRCh38]
Chr2:166003288 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4240-15A>G single nucleotide variant not provided [RCV002731581] Chr2:165096535 [GRCh38]
Chr2:165953045 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4564T>A (p.Phe1522Ile) single nucleotide variant not provided [RCV002511304] Chr2:165092497 [GRCh38]
Chr2:165949007 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3103A>C (p.Lys1035Gln) single nucleotide variant Inborn genetic diseases [RCV002840586] Chr2:165127921 [GRCh38]
Chr2:165984431 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3683T>C (p.Ile1228Thr) single nucleotide variant Epilepsy, familial focal, with variable foci 4 [RCV002510694]|not provided [RCV003561059] Chr2:165113045 [GRCh38]
Chr2:165969555 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4537-17C>T single nucleotide variant not provided [RCV002971165] Chr2:165092541 [GRCh38]
Chr2:165949051 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5935G>A (p.Glu1979Lys) single nucleotide variant not provided [RCV003014301] Chr2:165090218 [GRCh38]
Chr2:165946728 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.20T>C (p.Val7Ala) single nucleotide variant not provided [RCV002755064] Chr2:165176375 [GRCh38]
Chr2:166032885 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2391+15A>G single nucleotide variant not provided [RCV003033624] Chr2:165137864 [GRCh38]
Chr2:165994374 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5678C>A (p.Thr1893Asn) single nucleotide variant Inborn genetic diseases [RCV002902265] Chr2:165090475 [GRCh38]
Chr2:165946985 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5499G>C (p.Gln1833His) single nucleotide variant Inborn genetic diseases [RCV003167779]|not provided [RCV002771478] Chr2:165090654 [GRCh38]
Chr2:165947164 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2551C>T (p.Arg851Ter) single nucleotide variant not provided [RCV002775461] Chr2:165131258 [GRCh38]
Chr2:165987768 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4808-14T>C single nucleotide variant not provided [RCV003076695] Chr2:165091359 [GRCh38]
Chr2:165947869 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2539T>C (p.Leu847=) single nucleotide variant not provided [RCV002686031] Chr2:165131270 [GRCh38]
Chr2:165987780 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4698T>C (p.Ile1566=) single nucleotide variant not provided [RCV003074750] Chr2:165092363 [GRCh38]
Chr2:165948873 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.483C>T (p.Phe161=) single nucleotide variant not provided [RCV002882283] Chr2:165164511 [GRCh38]
Chr2:166021021 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5589G>A (p.Glu1863=) single nucleotide variant not provided [RCV002858333] Chr2:165090564 [GRCh38]
Chr2:165947074 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5241G>A (p.Gly1747=) single nucleotide variant not provided [RCV002858605] Chr2:165090912 [GRCh38]
Chr2:165947422 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1758T>C (p.Asp586=) single nucleotide variant not provided [RCV003034865] Chr2:165140912 [GRCh38]
Chr2:165997422 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2250A>T (p.Lys750Asn) single nucleotide variant not provided [RCV002819258] Chr2:165138020 [GRCh38]
Chr2:165994530 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3543A>G (p.Gln1181=) single nucleotide variant not provided [RCV002615012] Chr2:165113942 [GRCh38]
Chr2:165970452 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1562A>G (p.Asp521Gly) single nucleotide variant not provided [RCV002819687] Chr2:165146848 [GRCh38]
Chr2:166003358 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5911G>C (p.Asp1971His) single nucleotide variant not provided [RCV003076412] Chr2:165090242 [GRCh38]
Chr2:165946752 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1713C>A (p.Arg571=) single nucleotide variant not provided [RCV002614847] Chr2:165140957 [GRCh38]
Chr2:165997467 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2861T>C (p.Val954Ala) single nucleotide variant not provided [RCV002771475] Chr2:165130001 [GRCh38]
Chr2:165986511 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1672-6C>T single nucleotide variant not provided [RCV002971915] Chr2:165141004 [GRCh38]
Chr2:165997514 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5183C>T (p.Pro1728Leu) single nucleotide variant not provided [RCV002882068] Chr2:165090970 [GRCh38]
Chr2:165947480 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.109C>T (p.Pro37Ser) single nucleotide variant not provided [RCV002995966] Chr2:165176286 [GRCh38]
Chr2:166032796 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3344T>C (p.Leu1115Ser) single nucleotide variant not provided [RCV003073821] Chr2:165127680 [GRCh38]
Chr2:165984190 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1452T>C (p.Ser484=) single nucleotide variant not provided [RCV003074271] Chr2:165146958 [GRCh38]
Chr2:166003468 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4054A>G (p.Met1352Val) single nucleotide variant not provided [RCV002511988] Chr2:165097437 [GRCh38]
Chr2:165953947 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5000T>G (p.Phe1667Cys) single nucleotide variant not provided [RCV002816468] Chr2:165091153 [GRCh38]
Chr2:165947663 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2152+11G>A single nucleotide variant not provided [RCV002775647] Chr2:165139465 [GRCh38]
Chr2:165995975 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4593C>T (p.Ser1531=) single nucleotide variant not provided [RCV002995839] Chr2:165092468 [GRCh38]
Chr2:165948978 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1381-18G>A single nucleotide variant not provided [RCV002996083] Chr2:165147047 [GRCh38]
Chr2:166003557 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1627G>A (p.Gly543Arg) single nucleotide variant not provided [RCV002776189] Chr2:165146783 [GRCh38]
Chr2:166003293 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2463A>G (p.Gln821=) single nucleotide variant not provided [RCV003017055] Chr2:165131346 [GRCh38]
Chr2:165987856 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3342C>T (p.Asn1114=) single nucleotide variant not provided [RCV002731570] Chr2:165127682 [GRCh38]
Chr2:165984192 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4883T>C (p.Ile1628Thr) single nucleotide variant not provided [RCV002462557] Chr2:165091270 [GRCh38]
Chr2:165947780 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1381-19T>C single nucleotide variant not provided [RCV002863770] Chr2:165147048 [GRCh38]
Chr2:166003558 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5303C>T (p.Ala1768Val) single nucleotide variant not provided [RCV002461677] Chr2:165090850 [GRCh38]
Chr2:165947360 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2565+19C>A single nucleotide variant not provided [RCV002974829] Chr2:165131225 [GRCh38]
Chr2:165987735 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4106C>T (p.Thr1369Met) single nucleotide variant not provided [RCV002862762] Chr2:165097385 [GRCh38]
Chr2:165953895 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.277A>G (p.Met93Val) single nucleotide variant Inborn genetic diseases [RCV002794540] Chr2:165170536 [GRCh38]
Chr2:166027046 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5614A>G (p.Ile1872Val) single nucleotide variant not provided [RCV002994403] Chr2:165090539 [GRCh38]
Chr2:165947049 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1597A>G (p.Lys533Glu) single nucleotide variant not provided [RCV002816078] Chr2:165146813 [GRCh38]
Chr2:166003323 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3199G>A (p.Gly1067Arg) single nucleotide variant not provided [RCV002972441] Chr2:165127825 [GRCh38]
Chr2:165984335 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2153-5T>C single nucleotide variant not provided [RCV003016679] Chr2:165138122 [GRCh38]
Chr2:165994632 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1858C>A (p.Arg620=) single nucleotide variant not provided [RCV002774938] Chr2:165140812 [GRCh38]
Chr2:165997322 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1493A>G (p.Glu498Gly) single nucleotide variant not provided [RCV002461610] Chr2:165146917 [GRCh38]
Chr2:166003427 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5970C>G (p.Ser1990Arg) single nucleotide variant not provided [RCV003156450] Chr2:165090183 [GRCh38]
Chr2:165946693 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.603-104C>T single nucleotide variant Inborn genetic diseases [RCV002707669] Chr2:165163813 [GRCh38]
Chr2:166020323 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.695-5T>C single nucleotide variant not provided [RCV003018813] Chr2:165162833 [GRCh38]
Chr2:166019343 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2391+8C>G single nucleotide variant not provided [RCV003081681] Chr2:165137871 [GRCh38]
Chr2:165994381 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2233G>A (p.Ala745Thr) single nucleotide variant not provided [RCV002927889] Chr2:165138037 [GRCh38]
Chr2:165994547 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2392-15A>C single nucleotide variant not provided [RCV002889482] Chr2:165131432 [GRCh38]
Chr2:165987942 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2031A>G (p.Thr677=) single nucleotide variant not provided [RCV003055585] Chr2:165139597 [GRCh38]
Chr2:165996107 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5701G>A (p.Glu1901Lys) single nucleotide variant not provided [RCV002889342] Chr2:165090452 [GRCh38]
Chr2:165946962 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1380+5T>A single nucleotide variant not provided [RCV002889347] Chr2:165154447 [GRCh38]
Chr2:166010957 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.264+8T>C single nucleotide variant not provided [RCV002913855] Chr2:165176123 [GRCh38]
Chr2:166032633 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4239+14G>A single nucleotide variant not provided [RCV002640125] Chr2:165097238 [GRCh38]
Chr2:165953748 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1810A>G (p.Ser604Gly) single nucleotide variant Inborn genetic diseases [RCV002849203] Chr2:165140860 [GRCh38]
Chr2:165997370 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4761A>G (p.Ile1587Met) single nucleotide variant not provided [RCV003002836] Chr2:165092300 [GRCh38]
Chr2:165948810 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.129T>A (p.Asn43Lys) single nucleotide variant not provided [RCV003081591] Chr2:165176266 [GRCh38]
Chr2:166032776 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2767C>T (p.Arg923Trp) single nucleotide variant not provided [RCV003081784] Chr2:165130095 [GRCh38]
Chr2:165986605 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5926C>T (p.Pro1976Ser) single nucleotide variant not provided [RCV003003316] Chr2:165090227 [GRCh38]
Chr2:165946737 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.819G>A (p.Leu273=) single nucleotide variant not provided [RCV003079610] Chr2:165162704 [GRCh38]
Chr2:166019214 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.147A>G (p.Pro49=) single nucleotide variant not provided [RCV003003000] Chr2:165176248 [GRCh38]
Chr2:166032758 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1799C>T (p.Thr600Ile) single nucleotide variant Inborn genetic diseases [RCV002708242]|not provided [RCV003730268] Chr2:165140871 [GRCh38]
Chr2:165997381 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5007T>C (p.Tyr1669=) single nucleotide variant not provided [RCV002923738] Chr2:165091146 [GRCh38]
Chr2:165947656 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.265-17C>G single nucleotide variant not provided [RCV002796792] Chr2:165170565 [GRCh38]
Chr2:166027075 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.912A>G (p.Thr304=) single nucleotide variant not provided [RCV002591017] Chr2:165162611 [GRCh38]
Chr2:166019121 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5867A>G (p.Glu1956Gly) single nucleotide variant not provided [RCV002591727] Chr2:165090286 [GRCh38]
Chr2:165946796 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4808-3T>C single nucleotide variant not provided [RCV002735530] Chr2:165091348 [GRCh38]
Chr2:165947858 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5479G>A (p.Ala1827Thr) single nucleotide variant not provided [RCV003035540] Chr2:165090674 [GRCh38]
Chr2:165947184 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2995A>G (p.Asn999Asp) single nucleotide variant not provided [RCV002998912] Chr2:165128029 [GRCh38]
Chr2:165984539 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2661G>C (p.Leu887Phe) single nucleotide variant not provided [RCV002795476] Chr2:165130201 [GRCh38]
Chr2:165986711 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1032-6T>G single nucleotide variant not provided [RCV002638588] Chr2:165155909 [GRCh38]
Chr2:166012419 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5335G>A (p.Glu1779Lys) single nucleotide variant not provided [RCV003079689] Chr2:165090818 [GRCh38]
Chr2:165947328 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4912G>A (p.Ala1638Thr) single nucleotide variant not provided [RCV003037083] Chr2:165091241 [GRCh38]
Chr2:165947751 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3743C>G (p.Thr1248Ser) single nucleotide variant not provided [RCV002976536] Chr2:165112985 [GRCh38]
Chr2:165969495 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1835_1838del (p.Phe612fs) deletion not provided [RCV003054033] Chr2:165140832..165140835 [GRCh38]
Chr2:165997342..165997345 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5968A>G (p.Ser1990Gly) single nucleotide variant not provided [RCV002736662] Chr2:165090185 [GRCh38]
Chr2:165946695 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1701T>C (p.Phe567=) single nucleotide variant not provided [RCV002867460] Chr2:165140969 [GRCh38]
Chr2:165997479 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1617C>T (p.Phe539=) single nucleotide variant not provided [RCV002979396] Chr2:165146793 [GRCh38]
Chr2:166003303 [GRCh37]
Chr2:2q24.3		 benign|likely benign
NM_006922.4(SCN3A):c.1685T>A (p.Ile562Asn) single nucleotide variant not provided [RCV003035680] Chr2:165140985 [GRCh38]
Chr2:165997495 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5778C>G (p.Asn1926Lys) single nucleotide variant not provided [RCV002658820] Chr2:165090375 [GRCh38]
Chr2:165946885 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1032-17A>G single nucleotide variant not provided [RCV003038813] Chr2:165155920 [GRCh38]
Chr2:166012430 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3891C>T (p.Leu1297=) single nucleotide variant not provided [RCV002638409] Chr2:165100377 [GRCh38]
Chr2:165956887 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2883T>C (p.Leu961=) single nucleotide variant not provided [RCV003079599] Chr2:165129979 [GRCh38]
Chr2:165986489 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1030G>A (p.Gly344Ser) single nucleotide variant not provided [RCV003038096] Chr2:165162309 [GRCh38]
Chr2:166018819 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2418A>T (p.Glu806Asp) single nucleotide variant not provided [RCV002999160] Chr2:165131391 [GRCh38]
Chr2:165987901 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4807+6A>G single nucleotide variant not provided [RCV002871109] Chr2:165092248 [GRCh38]
Chr2:165948758 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.708T>C (p.Ile236=) single nucleotide variant not provided [RCV002847676] Chr2:165162815 [GRCh38]
Chr2:166019325 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5596G>C (p.Glu1866Gln) single nucleotide variant not provided [RCV003036372] Chr2:165090557 [GRCh38]
Chr2:165947067 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5965G>A (p.Glu1989Lys) single nucleotide variant not provided [RCV003078454] Chr2:165090188 [GRCh38]
Chr2:165946698 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3649C>T (p.Leu1217Phe) single nucleotide variant not provided [RCV002909222] Chr2:165113836 [GRCh38]
Chr2:165970346 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4578A>G (p.Gln1526=) single nucleotide variant not provided [RCV002867473] Chr2:165092483 [GRCh38]
Chr2:165948993 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5998A>C (p.Lys2000Gln) single nucleotide variant not provided [RCV002711828] Chr2:165090155 [GRCh38]
Chr2:165946665 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3843+15T>G single nucleotide variant not provided [RCV003059126] Chr2:165112870 [GRCh38]
Chr2:165969380 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2142C>T (p.Asn714=) single nucleotide variant not provided [RCV002957899] Chr2:165139486 [GRCh38]
Chr2:165995996 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5916T>C (p.Ser1972=) single nucleotide variant not provided [RCV002894926] Chr2:165090237 [GRCh38]
Chr2:165946747 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1173+15A>G single nucleotide variant not provided [RCV002801876] Chr2:165155747 [GRCh38]
Chr2:166012257 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.636C>A (p.Val212=) single nucleotide variant not provided [RCV002643555] Chr2:165163676 [GRCh38]
Chr2:166020186 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.765G>T (p.Val255=) single nucleotide variant not provided [RCV003082149] Chr2:165162758 [GRCh38]
Chr2:166019268 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5320T>G (p.Phe1774Val) single nucleotide variant not provided [RCV003024061] Chr2:165090833 [GRCh38]
Chr2:165947343 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4276G>A (p.Ala1426Thr) single nucleotide variant not provided [RCV002931923] Chr2:165096484 [GRCh38]
Chr2:165952994 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1380+9T>A single nucleotide variant not provided [RCV002642765] Chr2:165154443 [GRCh38]
Chr2:166010953 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5797A>T (p.Lys1933Ter) single nucleotide variant not provided [RCV002914923] Chr2:165090356 [GRCh38]
Chr2:165946866 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5517G>A (p.Leu1839=) single nucleotide variant not provided [RCV003023903] Chr2:165090636 [GRCh38]
Chr2:165947146 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4398CAT[1] (p.Ile1468del) microsatellite not provided [RCV003057611] Chr2:165095539..165095541 [GRCh38]
Chr2:165952049..165952051 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.586A>G (p.Ser196Gly) single nucleotide variant Inborn genetic diseases [RCV002891598] Chr2:165164408 [GRCh38]
Chr2:166020918 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3628A>T (p.Thr1210Ser) single nucleotide variant not provided [RCV002508396] Chr2:165113857 [GRCh38]
Chr2:165970367 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3908T>G (p.Leu1303Ter) single nucleotide variant not provided [RCV002801354] Chr2:165100360 [GRCh38]
Chr2:165956870 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5662T>C (p.Tyr1888His) single nucleotide variant not provided [RCV002623336] Chr2:165090491 [GRCh38]
Chr2:165947001 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2285T>C (p.Val762Ala) single nucleotide variant not provided [RCV002954157] Chr2:165137985 [GRCh38]
Chr2:165994495 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5173G>A (p.Asp1725Asn) single nucleotide variant not provided [RCV002917592] Chr2:165090980 [GRCh38]
Chr2:165947490 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3666A>G (p.Ala1222=) single nucleotide variant not provided [RCV002711903] Chr2:165113819 [GRCh38]
Chr2:165970329 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.663C>A (p.Leu221=) single nucleotide variant not provided [RCV002876542] Chr2:165163649 [GRCh38]
Chr2:166020159 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2152+17G>A single nucleotide variant not provided [RCV002741615] Chr2:165139459 [GRCh38]
Chr2:165995969 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.968-21_968-20delinsTT indel not provided [RCV003006309] Chr2:165162391..165162392 [GRCh38]
Chr2:166018901..166018902 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2022C>T (p.Gly674=) single nucleotide variant not provided [RCV002741419] Chr2:165139606 [GRCh38]
Chr2:165996116 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.695-12C>G single nucleotide variant not provided [RCV003007977] Chr2:165162840 [GRCh38]
Chr2:166019350 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2496C>T (p.Val832=) single nucleotide variant not provided [RCV002894066] Chr2:165131313 [GRCh38]
Chr2:165987823 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3060T>C (p.Asn1020=) single nucleotide variant not provided [RCV002894802] Chr2:165127964 [GRCh38]
Chr2:165984474 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4588A>G (p.Ile1530Val) single nucleotide variant not provided [RCV002985304] Chr2:165092473 [GRCh38]
Chr2:165948983 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.81A>T (p.Lys27Asn) single nucleotide variant not provided [RCV003024807] Chr2:165176314 [GRCh38]
Chr2:166032824 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.968-12T>C single nucleotide variant not provided [RCV002701502] Chr2:165162383 [GRCh38]
Chr2:166018893 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3393+17A>T single nucleotide variant not provided [RCV002919200] Chr2:165127614 [GRCh38]
Chr2:165984124 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4869C>T (p.Ile1623=) single nucleotide variant not provided [RCV002711507] Chr2:165091284 [GRCh38]
Chr2:165947794 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4085A>G (p.Tyr1362Cys) single nucleotide variant not provided [RCV002851665] Chr2:165097406 [GRCh38]
Chr2:165953916 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3734A>C (p.Lys1245Thr) single nucleotide variant Inborn genetic diseases [RCV002712582]|not provided [RCV003229108] Chr2:165112994 [GRCh38]
Chr2:165969504 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1578C>T (p.Ser526=) single nucleotide variant not provided [RCV002893884] Chr2:165146832 [GRCh38]
Chr2:166003342 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3218G>T (p.Gly1073Val) single nucleotide variant not provided [RCV003025833] Chr2:165127806 [GRCh38]
Chr2:165984316 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2133T>G (p.Ile711Met) single nucleotide variant not provided [RCV003083668] Chr2:165139495 [GRCh38]
Chr2:165996005 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.146C>T (p.Pro49Leu) single nucleotide variant not provided [RCV003025240] Chr2:165176249 [GRCh38]
Chr2:166032759 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2551C>A (p.Arg851=) single nucleotide variant not provided [RCV002894019] Chr2:165131258 [GRCh38]
Chr2:165987768 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4808-20GT[4] microsatellite not provided [RCV003055948] Chr2:165091361..165091362 [GRCh38]
Chr2:165947871..165947872 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3804C>T (p.Phe1268=) single nucleotide variant not provided [RCV002918614] Chr2:165112924 [GRCh38]
Chr2:165969434 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4846del (p.Ser1616fs) deletion not provided [RCV003040393] Chr2:165091307 [GRCh38]
Chr2:165947817 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1546A>T (p.Asn516Tyr) single nucleotide variant not provided [RCV003042362] Chr2:165146864 [GRCh38]
Chr2:166003374 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.930G>A (p.Met310Ile) single nucleotide variant not provided [RCV002917732] Chr2:165162593 [GRCh38]
Chr2:166019103 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.105G>A (p.Lys35=) single nucleotide variant not provided [RCV003041004] Chr2:165176290 [GRCh38]
Chr2:166032800 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5476A>G (p.Ile1826Val) single nucleotide variant not provided [RCV002829601] Chr2:165090677 [GRCh38]
Chr2:165947187 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2164T>C (p.Ser722Pro) single nucleotide variant not provided [RCV002851447] Chr2:165138106 [GRCh38]
Chr2:165994616 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4041G>A (p.Leu1347=) single nucleotide variant not provided [RCV002626095] Chr2:165097450 [GRCh38]
Chr2:165953960 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.4857G>A (p.Leu1619=) single nucleotide variant not provided [RCV002875549] Chr2:165091296 [GRCh38]
Chr2:165947806 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1826A>T (p.Asp609Val) single nucleotide variant not provided [RCV002828462] Chr2:165140844 [GRCh38]
Chr2:165997354 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3839T>C (p.Val1280Ala) single nucleotide variant not provided [RCV002828913] Chr2:165112889 [GRCh38]
Chr2:165969399 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2415A>G (p.Ala805=) single nucleotide variant not provided [RCV002876200] Chr2:165131394 [GRCh38]
Chr2:165987904 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.764T>C (p.Val255Ala) single nucleotide variant not provided [RCV002917421] Chr2:165162759 [GRCh38]
Chr2:166019269 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1381-8T>C single nucleotide variant not provided [RCV003005960] Chr2:165147037 [GRCh38]
Chr2:166003547 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.479C>T (p.Thr160Ile) single nucleotide variant not provided [RCV002802192] Chr2:165164515 [GRCh38]
Chr2:166021025 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3448C>T (p.Arg1150Ter) single nucleotide variant not provided [RCV002852577] Chr2:165115521 [GRCh38]
Chr2:165972031 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1577C>A (p.Ser526Tyr) single nucleotide variant not provided [RCV002700414] Chr2:165146833 [GRCh38]
Chr2:166003343 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1851T>C (p.His617=) single nucleotide variant not provided [RCV002938295] Chr2:165140819 [GRCh38]
Chr2:165997329 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4827G>A (p.Met1609Ile) single nucleotide variant not provided [RCV002631813] Chr2:165091326 [GRCh38]
Chr2:165947836 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4044C>A (p.Ile1348=) single nucleotide variant not provided [RCV003048747] Chr2:165097447 [GRCh38]
Chr2:165953957 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3690dup (p.Glu1231Ter) duplication not provided [RCV003047317] Chr2:165113037..165113038 [GRCh38]
Chr2:165969547..165969548 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1526G>C (p.Arg509Thr) single nucleotide variant not provided [RCV002810810] Chr2:165146884 [GRCh38]
Chr2:166003394 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5575C>T (p.Arg1859Cys) single nucleotide variant not provided [RCV003030678] Chr2:165090578 [GRCh38]
Chr2:165947088 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.135T>G (p.Asp45Glu) single nucleotide variant not provided [RCV002720657] Chr2:165176260 [GRCh38]
Chr2:166032770 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1122G>A (p.Leu374=) single nucleotide variant not provided [RCV003091835] Chr2:165155813 [GRCh38]
Chr2:166012323 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3188A>C (p.Tyr1063Ser) single nucleotide variant not provided [RCV002810156] Chr2:165127836 [GRCh38]
Chr2:165984346 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5551G>A (p.Asp1851Asn) single nucleotide variant not provided [RCV003026725] Chr2:165090602 [GRCh38]
Chr2:165947112 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2019+16C>G single nucleotide variant not provided [RCV002937898] Chr2:165140635 [GRCh38]
Chr2:165997145 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2110A>G (p.Arg704Gly) single nucleotide variant not provided [RCV002834960] Chr2:165139518 [GRCh38]
Chr2:165996028 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3325G>T (p.Glu1109Ter) single nucleotide variant not provided [RCV003048593] Chr2:165127699 [GRCh38]
Chr2:165984209 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4312T>C (p.Tyr1438His) single nucleotide variant not provided [RCV002895752] Chr2:165095630 [GRCh38]
Chr2:165952140 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4894C>T (p.Leu1632=) single nucleotide variant not provided [RCV003065562] Chr2:165091259 [GRCh38]
Chr2:165947769 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1880A>G (p.Gln627Arg) single nucleotide variant not provided [RCV002650570] Chr2:165140790 [GRCh38]
Chr2:165997300 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3969G>A (p.Val1323=) single nucleotide variant not provided [RCV002770626] Chr2:165097522 [GRCh38]
Chr2:165954032 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.1173+18A>T single nucleotide variant not provided [RCV002833137] Chr2:165155744 [GRCh38]
Chr2:166012254 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1008C>A (p.Leu336=) single nucleotide variant not provided [RCV002833349] Chr2:165162331 [GRCh38]
Chr2:166018841 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.329T>C (p.Ile110Thr) single nucleotide variant not provided [RCV002832935] Chr2:165170484 [GRCh38]
Chr2:166026994 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1220T>C (p.Val407Ala) single nucleotide variant not provided [RCV003059956] Chr2:165154612 [GRCh38]
Chr2:166011122 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2983A>G (p.Thr995Ala) single nucleotide variant not provided [RCV002632001] Chr2:165128041 [GRCh38]
Chr2:165984551 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1032-5T>A single nucleotide variant not provided [RCV002811958] Chr2:165155908 [GRCh38]
Chr2:166012418 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4808-5C>T single nucleotide variant not provided [RCV002598781] Chr2:165091350 [GRCh38]
Chr2:165947860 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1458A>G (p.Ser486=) single nucleotide variant not provided [RCV003010090] Chr2:165146952 [GRCh38]
Chr2:166003462 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1866C>T (p.Asn622=) single nucleotide variant not provided [RCV002578253] Chr2:165140804 [GRCh38]
Chr2:165997314 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4536+19C>T single nucleotide variant not provided [RCV003086058] Chr2:165094355 [GRCh38]
Chr2:165950865 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.878C>A (p.Ser293Tyr) single nucleotide variant not provided [RCV002922033] Chr2:165162645 [GRCh38]
Chr2:166019155 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.968-11T>G single nucleotide variant not provided [RCV003030267] Chr2:165162382 [GRCh38]
Chr2:166018892 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1221C>A (p.Val407=) single nucleotide variant not provided [RCV002811603] Chr2:165154611 [GRCh38]
Chr2:166011121 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5027A>C (p.Asn1676Thr) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003483909]|not provided [RCV003060728] Chr2:165091126 [GRCh38]
Chr2:165947636 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3471T>C (p.Thr1157=) single nucleotide variant not provided [RCV003029967] Chr2:165115498 [GRCh38]
Chr2:165972008 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1621A>G (p.Met541Val) single nucleotide variant not provided [RCV003047878] Chr2:165146789 [GRCh38]
Chr2:166003299 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3580A>C (p.Asn1194His) single nucleotide variant not provided [RCV003029188] Chr2:165113905 [GRCh38]
Chr2:165970415 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1031+15A>C single nucleotide variant not provided [RCV002651116] Chr2:165162293 [GRCh38]
Chr2:166018803 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3853G>C (p.Val1285Leu) single nucleotide variant not provided [RCV002814775] Chr2:165100415 [GRCh38]
Chr2:165956925 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2607T>C (p.Asn869=) single nucleotide variant not provided [RCV002653500] Chr2:165130255 [GRCh38]
Chr2:165986765 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1000C>A (p.Pro334Thr) single nucleotide variant not provided [RCV002676752] Chr2:165162339 [GRCh38]
Chr2:166018849 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2391+6T>C single nucleotide variant not provided [RCV002635797] Chr2:165137873 [GRCh38]
Chr2:165994383 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.602+14A>C single nucleotide variant not provided [RCV002725303] Chr2:165164378 [GRCh38]
Chr2:166020888 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5143C>T (p.Leu1715=) single nucleotide variant not provided [RCV003069861] Chr2:165091010 [GRCh38]
Chr2:165947520 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2973C>T (p.Asn991=) single nucleotide variant not provided [RCV003069929] Chr2:165128051 [GRCh38]
Chr2:165984561 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1376C>A (p.Ala459Asp) single nucleotide variant Inborn genetic diseases [RCV003269396]|not provided [RCV003050374] Chr2:165154456 [GRCh38]
Chr2:166010966 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1859G>C (p.Arg620Pro) single nucleotide variant not provided [RCV002654277] Chr2:165140811 [GRCh38]
Chr2:165997321 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3881A>G (p.Tyr1294Cys) single nucleotide variant not provided [RCV002943216] Chr2:165100387 [GRCh38]
Chr2:165956897 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1820G>T (p.Arg607Met) single nucleotide variant not provided [RCV003052043] Chr2:165140850 [GRCh38]
Chr2:165997360 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.208C>G (p.Pro70Ala) single nucleotide variant not provided [RCV002676751] Chr2:165176187 [GRCh38]
Chr2:166032697 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3605T>C (p.Ile1202Thr) single nucleotide variant not provided [RCV002635157] Chr2:165113880 [GRCh38]
Chr2:165970390 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1857G>A (p.Glu619=) single nucleotide variant not provided [RCV002658303] Chr2:165140813 [GRCh38]
Chr2:165997323 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4837T>C (p.Tyr1613His) single nucleotide variant not provided [RCV002607362] Chr2:165091316 [GRCh38]
Chr2:165947826 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5427G>A (p.Glu1809=) single nucleotide variant not provided [RCV002584878] Chr2:165090726 [GRCh38]
Chr2:165947236 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.270T>C (p.Phe90=) single nucleotide variant not provided [RCV003070237] Chr2:165170543 [GRCh38]
Chr2:166027053 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.582T>C (p.Asp194=) single nucleotide variant not provided [RCV003071682] Chr2:165164412 [GRCh38]
Chr2:166020922 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3670-8A>T single nucleotide variant not provided [RCV002608589] Chr2:165113066 [GRCh38]
Chr2:165969576 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2641G>A (p.Ala881Thr) single nucleotide variant Inborn genetic diseases [RCV002678782] Chr2:165130221 [GRCh38]
Chr2:165986731 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.553T>C (p.Phe185Leu) single nucleotide variant not provided [RCV002610047] Chr2:165164441 [GRCh38]
Chr2:166020951 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5526C>T (p.Val1842=) single nucleotide variant not provided [RCV003049941] Chr2:165090627 [GRCh38]
Chr2:165947137 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4536+10A>G single nucleotide variant not provided [RCV003049965] Chr2:165094364 [GRCh38]
Chr2:165950874 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5242A>G (p.Ile1748Val) single nucleotide variant not provided [RCV003051913] Chr2:165090911 [GRCh38]
Chr2:165947421 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.602+13G>C single nucleotide variant not provided [RCV002610380] Chr2:165164379 [GRCh38]
Chr2:166020889 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5781T>C (p.Tyr1927=) single nucleotide variant not provided [RCV002607109] Chr2:165090372 [GRCh38]
Chr2:165946882 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2037G>C (p.Thr679=) single nucleotide variant not provided [RCV002676763] Chr2:165139591 [GRCh38]
Chr2:165996101 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5818A>G (p.Ile1940Val) single nucleotide variant not provided [RCV003066814] Chr2:165090335 [GRCh38]
Chr2:165946845 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3669+9A>G single nucleotide variant not provided [RCV003071270] Chr2:165113807 [GRCh38]
Chr2:165970317 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.324G>C (p.Leu108Phe) single nucleotide variant not provided [RCV002721562] Chr2:165170489 [GRCh38]
Chr2:166026999 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3534A>G (p.Pro1178=) single nucleotide variant not provided [RCV002607240] Chr2:165113951 [GRCh38]
Chr2:165970461 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3468A>G (p.Glu1156=) single nucleotide variant not provided [RCV003066444] Chr2:165115501 [GRCh38]
Chr2:165972011 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3256G>T (p.Asp1086Tyr) single nucleotide variant not provided [RCV002588504] Chr2:165127768 [GRCh38]
Chr2:165984278 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3475C>A (p.Pro1159Thr) single nucleotide variant not provided [RCV002653057] Chr2:165115494 [GRCh38]
Chr2:165972004 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.159T>C (p.Ser53=) single nucleotide variant not provided [RCV002583677] Chr2:165176236 [GRCh38]
Chr2:166032746 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.968G>A (p.Ser323Asn) single nucleotide variant not provided [RCV002609463] Chr2:165162371 [GRCh38]
Chr2:166018881 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.364A>G (p.Ile122Val) single nucleotide variant SCN3A-related condition [RCV003420377]|not provided [RCV002607826] Chr2:165170449 [GRCh38]
Chr2:166026959 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.694+14del deletion not provided [RCV002589024] Chr2:165163604 [GRCh38]
Chr2:166020114 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.968-20del deletion not provided [RCV003067045] Chr2:165162391 [GRCh38]
Chr2:166018901 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.594T>C (p.Ile198=) single nucleotide variant not provided [RCV003072419] Chr2:165164400 [GRCh38]
Chr2:166020910 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.383+13T>C single nucleotide variant not provided [RCV002606657] Chr2:165170417 [GRCh38]
Chr2:166026927 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3514+11T>A single nucleotide variant not provided [RCV002943207] Chr2:165115444 [GRCh38]
Chr2:165971954 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4537-8C>T single nucleotide variant not provided [RCV002635722] Chr2:165092532 [GRCh38]
Chr2:165949042 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5453C>A (p.Ala1818Asp) single nucleotide variant not provided [RCV002612316] Chr2:165090700 [GRCh38]
Chr2:165947210 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.593T>C (p.Ile198Thr) single nucleotide variant not provided [RCV003154502] Chr2:165164401 [GRCh38]
Chr2:166020911 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3979G>C (p.Ala1327Pro) single nucleotide variant not provided [RCV003223800] Chr2:165097512 [GRCh38]
Chr2:165954022 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4768A>G (p.Asn1590Asp) single nucleotide variant not provided [RCV003227185] Chr2:165092293 [GRCh38]
Chr2:165948803 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3287A>C (p.Asn1096Thr) single nucleotide variant not provided [RCV003218880] Chr2:165127737 [GRCh38]
Chr2:165984247 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3365G>A (p.Ser1122Asn) single nucleotide variant not provided [RCV003227300] Chr2:165127659 [GRCh38]
Chr2:165984169 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1372G>A (p.Glu458Lys) single nucleotide variant not provided [RCV003229470] Chr2:165154460 [GRCh38]
Chr2:166010970 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4939G>A (p.Ala1647Thr) single nucleotide variant not provided [RCV003228373] Chr2:165091214 [GRCh38]
Chr2:165947724 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3001_3002delinsCA (p.Met1001Gln) indel not provided [RCV003159475] Chr2:165128022..165128023 [GRCh38]
Chr2:165984532..165984533 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.920A>T (p.Asn307Ile) single nucleotide variant not provided [RCV003136443] Chr2:165162603 [GRCh38]
Chr2:166019113 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2748TGA[1] (p.Asp918del) microsatellite not provided [RCV003136444] Chr2:165130109..165130111 [GRCh38]
Chr2:165986619..165986621 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1267G>A (p.Val423Met) single nucleotide variant not provided [RCV003136445] Chr2:165154565 [GRCh38]
Chr2:166011075 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.138G>T (p.Glu46Asp) single nucleotide variant not provided [RCV003136447] Chr2:165176257 [GRCh38]
Chr2:166032767 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5152A>T (p.Ile1718Phe) single nucleotide variant not provided [RCV003136448] Chr2:165091001 [GRCh38]
Chr2:165947511 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5878G>A (p.Gly1960Arg) single nucleotide variant not provided [RCV003136449] Chr2:165090275 [GRCh38]
Chr2:165946785 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4438G>A (p.Gly1480Ser) single nucleotide variant not provided [RCV003136450] Chr2:165094472 [GRCh38]
Chr2:165950982 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2410A>G (p.Thr804Ala) single nucleotide variant not provided [RCV003136451] Chr2:165131399 [GRCh38]
Chr2:165987909 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3860T>C (p.Leu1287Pro) single nucleotide variant not provided [RCV003136452] Chr2:165100408 [GRCh38]
Chr2:165956918 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.478A>G (p.Thr160Ala) single nucleotide variant not provided [RCV003136453] Chr2:165164516 [GRCh38]
Chr2:166021026 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2027C>T (p.Thr676Ile) single nucleotide variant not provided [RCV003136454] Chr2:165139601 [GRCh38]
Chr2:165996111 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.43C>T (p.Arg15Cys) single nucleotide variant SCN3A-related condition [RCV003410274]|not provided [RCV003136446] Chr2:165176352 [GRCh38]
Chr2:166032862 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4802T>C (p.Ile1601Thr) single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003140465] Chr2:165092259 [GRCh38]
Chr2:165948769 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2213T>C (p.Leu738Ser) single nucleotide variant not provided [RCV003223806] Chr2:165138057 [GRCh38]
Chr2:165994567 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1843C>A (p.His615Asn) single nucleotide variant not provided [RCV003223856] Chr2:165140827 [GRCh38]
Chr2:165997337 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1642A>G (p.Ser548Gly) single nucleotide variant Inborn genetic diseases [RCV003213617]|not provided [RCV003679178] Chr2:165146768 [GRCh38]
Chr2:166003278 [GRCh37]
Chr2:2q24.3		 likely benign|uncertain significance
NM_006922.4(SCN3A):c.4239+6T>A single nucleotide variant not provided [RCV003218918] Chr2:165097246 [GRCh38]
Chr2:165953756 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1625A>G (p.Asp542Gly) single nucleotide variant not provided [RCV003229269] Chr2:165146785 [GRCh38]
Chr2:166003295 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3678A>T (p.Glu1226Asp) single nucleotide variant not provided [RCV003227229] Chr2:165113050 [GRCh38]
Chr2:165969560 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3559G>C (p.Gly1187Arg) single nucleotide variant not provided [RCV003319861] Chr2:165113926 [GRCh38]
Chr2:165970436 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1258C>T (p.Leu420=) single nucleotide variant not provided [RCV003568949] Chr2:165154574 [GRCh38]
Chr2:166011084 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1661C>T (p.Ser554Phe) single nucleotide variant not provided [RCV003323019] Chr2:165146749 [GRCh38]
Chr2:166003259 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2321C>A (p.Thr774Asn) single nucleotide variant not provided [RCV003329981] Chr2:165137949 [GRCh38]
Chr2:165994459 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3412T>G (p.Ser1138Ala) single nucleotide variant not provided [RCV003329759] Chr2:165115557 [GRCh38]
Chr2:165972067 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2066A>C (p.Tyr689Ser) single nucleotide variant not provided [RCV003329803] Chr2:165139562 [GRCh38]
Chr2:165996072 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5852G>A (p.Gly1951Glu) single nucleotide variant not provided [RCV003329982] Chr2:165090301 [GRCh38]
Chr2:165946811 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.301C>T (p.Arg101Ter) single nucleotide variant SCN3A-related condition [RCV003397468] Chr2:165170512 [GRCh38]
Chr2:166027022 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1737T>A (p.Ser579Arg) single nucleotide variant SCN3A-related condition [RCV003397574] Chr2:165140933 [GRCh38]
Chr2:165997443 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4289G>A (p.Arg1430Gln) single nucleotide variant not provided [RCV003328752] Chr2:165096471 [GRCh38]
Chr2:165952981 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3384A>C (p.Glu1128Asp) single nucleotide variant not provided [RCV003332581] Chr2:165127640 [GRCh38]
Chr2:165984150 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3706A>G (p.Ile1236Val) single nucleotide variant Inborn genetic diseases [RCV003383483] Chr2:165113022 [GRCh38]
Chr2:165969532 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.123A>C (p.Gln41His) single nucleotide variant Inborn genetic diseases [RCV003365060] Chr2:165176272 [GRCh38]
Chr2:166032782 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1026T>C (p.Asp342=) single nucleotide variant not provided [RCV003569850] Chr2:165162313 [GRCh38]
Chr2:166018823 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4293+11C>T single nucleotide variant not provided [RCV003571903] Chr2:165096456 [GRCh38]
Chr2:165952966 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.264+10G>T single nucleotide variant not provided [RCV003569534] Chr2:165176121 [GRCh38]
Chr2:166032631 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5316G>A (p.Glu1772=) single nucleotide variant not provided [RCV003874365] Chr2:165090837 [GRCh38]
Chr2:165947347 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4447A>C (p.Ile1483Leu) single nucleotide variant not provided [RCV003543450] Chr2:165094463 [GRCh38]
Chr2:165950973 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4294-16_4294-14del deletion not provided [RCV003543269] Chr2:165095662..165095664 [GRCh38]
Chr2:165952172..165952174 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2177G>T (p.Cys726Phe) single nucleotide variant not provided [RCV003570254] Chr2:165138093 [GRCh38]
Chr2:165994603 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3601A>T (p.Ser1201Cys) single nucleotide variant not provided [RCV003543778] Chr2:165113884 [GRCh38]
Chr2:165970394 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.404T>C (p.Met135Thr) single nucleotide variant not provided [RCV003543843] Chr2:165168805 [GRCh38]
Chr2:166025315 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.72T>C (p.Ala24=) single nucleotide variant not provided [RCV003686203] Chr2:165176323 [GRCh38]
Chr2:166032833 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5001T>C (p.Phe1667=) single nucleotide variant not provided [RCV003543866] Chr2:165091152 [GRCh38]
Chr2:165947662 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3415T>A (p.Ser1139Thr) single nucleotide variant not provided [RCV003569932] Chr2:165115554 [GRCh38]
Chr2:165972064 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.726G>T (p.Gln242His) single nucleotide variant not provided [RCV003443662] Chr2:165162797 [GRCh38]
Chr2:166019307 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5073C>A (p.Asn1691Lys) single nucleotide variant not provided [RCV003436219] Chr2:165091080 [GRCh38]
Chr2:165947590 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4571C>A (p.Thr1524Asn) single nucleotide variant not provided [RCV003436220] Chr2:165092490 [GRCh38]
Chr2:165949000 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1470G>A (p.Lys490=) single nucleotide variant not provided [RCV003436221] Chr2:165146940 [GRCh38]
Chr2:166003450 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5491A>G (p.Lys1831Glu) single nucleotide variant not provided [RCV003441476] Chr2:165090662 [GRCh38]
Chr2:165947172 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5189C>A (p.Thr1730Lys) single nucleotide variant SCN3A-related condition [RCV003397685] Chr2:165090964 [GRCh38]
Chr2:165947474 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3017T>C (p.Ile1006Thr) single nucleotide variant not provided [RCV003443457] Chr2:165128007 [GRCh38]
Chr2:165984517 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5191_5192delinsGA (p.Ile1731Asp) indel SCN3A-related condition [RCV003406055] Chr2:165090961..165090962 [GRCh38]
Chr2:165947471..165947472 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4168C>G (p.Gln1390Glu) single nucleotide variant not provided [RCV003429338] Chr2:165097323 [GRCh38]
Chr2:165953833 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2746A>C (p.Asn916His) single nucleotide variant SCN3A-related condition [RCV003420801] Chr2:165130116 [GRCh38]
Chr2:165986626 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.603-102G>A single nucleotide variant SCN3A-related condition [RCV003412323] Chr2:165163811 [GRCh38]
Chr2:166020321 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3417T>C (p.Ser1139=) single nucleotide variant not provided [RCV003429339] Chr2:165115552 [GRCh38]
Chr2:165972062 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4799C>T (p.Ser1600Phe) single nucleotide variant not provided [RCV003443802] Chr2:165092262 [GRCh38]
Chr2:165948772 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3023T>C (p.Val1008Ala) single nucleotide variant not provided [RCV003442234] Chr2:165128001 [GRCh38]
Chr2:165984511 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5034C>T (p.Ala1678=) single nucleotide variant not provided [RCV003429337] Chr2:165091119 [GRCh38]
Chr2:165947629 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.967+1G>A single nucleotide variant not provided [RCV003442269] Chr2:165162555 [GRCh38]
Chr2:166019065 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3424A>C (p.Ser1142Arg) single nucleotide variant not provided [RCV003442580] Chr2:165115545 [GRCh38]
Chr2:165972055 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4679G>C (p.Arg1560Pro) single nucleotide variant SCN3A-related condition [RCV003402974] Chr2:165092382 [GRCh38]
Chr2:165948892 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1933C>T (p.His645Tyr) single nucleotide variant not provided [RCV003544225] Chr2:165140737 [GRCh38]
Chr2:165997247 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2687T>A (p.Phe896Tyr) single nucleotide variant not provided [RCV003576851] Chr2:165130175 [GRCh38]
Chr2:165986685 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5357G>A (p.Ser1786Asn) single nucleotide variant not provided [RCV003661379] Chr2:165090796 [GRCh38]
Chr2:165947306 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4959T>A (p.Pro1653=) single nucleotide variant not provided [RCV003579138] Chr2:165091194 [GRCh38]
Chr2:165947704 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2152+19A>G single nucleotide variant not provided [RCV003573739] Chr2:165139457 [GRCh38]
Chr2:165995967 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.978T>A (p.Tyr326Ter) single nucleotide variant not provided [RCV003693302] Chr2:165162361 [GRCh38]
Chr2:166018871 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2080G>C (p.Glu694Gln) single nucleotide variant not provided [RCV003579523] Chr2:165139548 [GRCh38]
Chr2:165996058 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.264+19C>T single nucleotide variant not provided [RCV003692259] Chr2:165176112 [GRCh38]
Chr2:166032622 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3966+14A>G single nucleotide variant not provided [RCV003578591] Chr2:165100288 [GRCh38]
Chr2:165956798 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.991C>A (p.Gln331Lys) single nucleotide variant not provided [RCV003491435] Chr2:165162348 [GRCh38]
Chr2:166018858 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2273T>C (p.Met758Thr) single nucleotide variant not provided [RCV003577365] Chr2:165137997 [GRCh38]
Chr2:165994507 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1325A>G (p.Glu442Gly) single nucleotide variant not provided [RCV003579558] Chr2:165154507 [GRCh38]
Chr2:166011017 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.978T>C (p.Tyr326=) single nucleotide variant not provided [RCV003827514] Chr2:165162361 [GRCh38]
Chr2:166018871 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.64C>T (p.Leu22Phe) single nucleotide variant not provided [RCV003579355] Chr2:165176331 [GRCh38]
Chr2:166032841 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1745G>C (p.Gly582Ala) single nucleotide variant not provided [RCV003576699] Chr2:165140925 [GRCh38]
Chr2:165997435 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.723C>T (p.Ile241=) single nucleotide variant not provided [RCV003738821] Chr2:165162800 [GRCh38]
Chr2:166019310 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.762T>A (p.Thr254=) single nucleotide variant not provided [RCV003694008] Chr2:165162761 [GRCh38]
Chr2:166019271 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5679C>G (p.Thr1893=) single nucleotide variant not provided [RCV003825101] Chr2:165090474 [GRCh38]
Chr2:165946984 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2153-16G>C single nucleotide variant not provided [RCV003576387] Chr2:165138133 [GRCh38]
Chr2:165994643 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1605C>T (p.Ser535=) single nucleotide variant not provided [RCV003577622] Chr2:165146805 [GRCh38]
Chr2:166003315 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.694+4A>G single nucleotide variant not provided [RCV003714379] Chr2:165163614 [GRCh38]
Chr2:166020124 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3484G>C (p.Asp1162His) single nucleotide variant not provided [RCV003576559] Chr2:165115485 [GRCh38]
Chr2:165971995 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2391+17T>G single nucleotide variant not provided [RCV003686772] Chr2:165137862 [GRCh38]
Chr2:165994372 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1031+8A>T single nucleotide variant not provided [RCV003544873] Chr2:165162300 [GRCh38]
Chr2:166018810 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2805T>C (p.Ile935=) single nucleotide variant not provided [RCV003576580] Chr2:165130057 [GRCh38]
Chr2:165986567 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1380+11A>G single nucleotide variant not provided [RCV003573595] Chr2:165154441 [GRCh38]
Chr2:166010951 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.680T>A (p.Ile227Asn) single nucleotide variant not provided [RCV003547109] Chr2:165163632 [GRCh38]
Chr2:166020142 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3571A>G (p.Ile1191Val) single nucleotide variant not provided [RCV003692568] Chr2:165113914 [GRCh38]
Chr2:165970424 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2530G>A (p.Val844Met) single nucleotide variant not provided [RCV003573743] Chr2:165131279 [GRCh38]
Chr2:165987789 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2413G>T (p.Ala805Ser) single nucleotide variant not provided [RCV003547138] Chr2:165131396 [GRCh38]
Chr2:165987906 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2566-10T>C single nucleotide variant not provided [RCV003826851] Chr2:165130306 [GRCh38]
Chr2:165986816 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3844-14T>G single nucleotide variant not provided [RCV003573103] Chr2:165100438 [GRCh38]
Chr2:165956948 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3152A>G (p.Asn1051Ser) single nucleotide variant not provided [RCV003689131] Chr2:165127872 [GRCh38]
Chr2:165984382 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5407G>T (p.Asp1803Tyr) single nucleotide variant not provided [RCV003659986] Chr2:165090746 [GRCh38]
Chr2:165947256 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2131A>T (p.Ile711Phe) single nucleotide variant not provided [RCV003692140] Chr2:165139497 [GRCh38]
Chr2:165996007 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3662G>A (p.Gly1221Asp) single nucleotide variant not provided [RCV003713371] Chr2:165113823 [GRCh38]
Chr2:165970333 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5862T>C (p.Thr1954=) single nucleotide variant not provided [RCV003574062] Chr2:165090291 [GRCh38]
Chr2:165946801 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5837T>C (p.Ile1946Thr) single nucleotide variant not provided [RCV003573364] Chr2:165090316 [GRCh38]
Chr2:165946826 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5264T>C (p.Ile1755Thr) single nucleotide variant not provided [RCV003686480] Chr2:165090889 [GRCh38]
Chr2:165947399 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.116del (p.Lys39fs) deletion not provided [RCV003686657] Chr2:165176279 [GRCh38]
Chr2:166032789 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5652C>T (p.Ser1884=) single nucleotide variant not provided [RCV003661824] Chr2:165090501 [GRCh38]
Chr2:165947011 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2094T>C (p.Asp698=) single nucleotide variant not provided [RCV003689897] Chr2:165139534 [GRCh38]
Chr2:165996044 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1424T>A (p.Ile475Lys) single nucleotide variant not provided [RCV003713304] Chr2:165146986 [GRCh38]
Chr2:166003496 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5058T>C (p.Ile1686=) single nucleotide variant not provided [RCV003576608] Chr2:165091095 [GRCh38]
Chr2:165947605 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.264+4A>G single nucleotide variant not provided [RCV003577959] Chr2:165176127 [GRCh38]
Chr2:166032637 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3843+11T>C single nucleotide variant not provided [RCV003576763] Chr2:165112874 [GRCh38]
Chr2:165969384 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2347C>G (p.Pro783Ala) single nucleotide variant not provided [RCV003690970] Chr2:165137923 [GRCh38]
Chr2:165994433 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5304G>A (p.Ala1768=) single nucleotide variant not provided [RCV003880249] Chr2:165090849 [GRCh38]
Chr2:165947359 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2955T>C (p.Ser985=) single nucleotide variant not provided [RCV003878092] Chr2:165128069 [GRCh38]
Chr2:165984579 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5702A>G (p.Glu1901Gly) single nucleotide variant not provided [RCV003716179] Chr2:165090451 [GRCh38]
Chr2:165946961 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4869C>A (p.Ile1623=) single nucleotide variant not provided [RCV003825911] Chr2:165091284 [GRCh38]
Chr2:165947794 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3986T>C (p.Val1329Ala) single nucleotide variant not provided [RCV003577251] Chr2:165097505 [GRCh38]
Chr2:165954015 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1712G>T (p.Arg571Leu) single nucleotide variant not provided [RCV003660392] Chr2:165140958 [GRCh38]
Chr2:165997468 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.713G>C (p.Gly238Ala) single nucleotide variant not provided [RCV003695652] Chr2:165162810 [GRCh38]
Chr2:166019320 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.4808-3T>A single nucleotide variant not provided [RCV003824790] Chr2:165091348 [GRCh38]
Chr2:165947858 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.167A>C (p.Glu56Ala) single nucleotide variant not provided [RCV003572063] Chr2:165176228 [GRCh38]
Chr2:166032738 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5711C>T (p.Ala1904Val) single nucleotide variant not provided [RCV003824822] Chr2:165090442 [GRCh38]
Chr2:165946952 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2923-3T>C single nucleotide variant not provided [RCV003739326] Chr2:165128104 [GRCh38]
Chr2:165984614 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4658A>G (p.Tyr1553Cys) single nucleotide variant not provided [RCV003578572] Chr2:165092403 [GRCh38]
Chr2:165948913 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4536+10_4536+13del deletion not provided [RCV003687554] Chr2:165094361..165094364 [GRCh38]
Chr2:165950871..165950874 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4536+17T>C single nucleotide variant not provided [RCV003715980] Chr2:165094357 [GRCh38]
Chr2:165950867 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1031+11T>C single nucleotide variant not provided [RCV003879775] Chr2:165162297 [GRCh38]
Chr2:166018807 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4729C>T (p.Leu1577Phe) single nucleotide variant not provided [RCV003689762] Chr2:165092332 [GRCh38]
Chr2:165948842 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.695-2A>C single nucleotide variant not provided [RCV003573894] Chr2:165162830 [GRCh38]
Chr2:166019340 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5305G>C (p.Val1769Leu) single nucleotide variant not provided [RCV003713485] Chr2:165090848 [GRCh38]
Chr2:165947358 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1174-12C>T single nucleotide variant not provided [RCV003689242] Chr2:165154670 [GRCh38]
Chr2:166011180 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1174-9T>C single nucleotide variant not provided [RCV003573885] Chr2:165154667 [GRCh38]
Chr2:166011177 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3838G>A (p.Val1280Ile) single nucleotide variant not provided [RCV003547801] Chr2:165112890 [GRCh38]
Chr2:165969400 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3002T>A (p.Met1001Lys) single nucleotide variant not provided [RCV003713998] Chr2:165128022 [GRCh38]
Chr2:165984532 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5199T>G (p.Pro1733=) single nucleotide variant not provided [RCV003573113] Chr2:165090954 [GRCh38]
Chr2:165947464 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4127G>C (p.Ser1376Thr) single nucleotide variant not provided [RCV003491434] Chr2:165097364 [GRCh38]
Chr2:165953874 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4380G>C (p.Leu1460=) single nucleotide variant not provided [RCV003491436] Chr2:165095562 [GRCh38]
Chr2:165952072 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.110_113delinsTTTT (p.Pro37_Lys38delinsLeuLeu) indel not provided [RCV003686658] Chr2:165176282..165176285 [GRCh38]
Chr2:166032792..166032795 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4191A>C (p.Lys1397Asn) single nucleotide variant not provided [RCV003688678] Chr2:165097300 [GRCh38]
Chr2:165953810 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3354A>G (p.Glu1118=) single nucleotide variant not provided [RCV003878868] Chr2:165127670 [GRCh38]
Chr2:165984180 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2343C>T (p.His781=) single nucleotide variant not provided [RCV003714151] Chr2:165137927 [GRCh38]
Chr2:165994437 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2964C>G (p.Ser988Arg) single nucleotide variant not provided [RCV003689590] Chr2:165128060 [GRCh38]
Chr2:165984570 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1578C>A (p.Ser526=) single nucleotide variant not provided [RCV003661105] Chr2:165146832 [GRCh38]
Chr2:166003342 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1287G>A (p.Glu429=) single nucleotide variant not provided [RCV003716861] Chr2:165154545 [GRCh38]
Chr2:166011055 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5231C>A (p.Pro1744Gln) single nucleotide variant not provided [RCV003548108] Chr2:165090922 [GRCh38]
Chr2:165947432 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3864A>G (p.Val1288=) single nucleotide variant not provided [RCV003580754] Chr2:165100404 [GRCh38]
Chr2:165956914 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3394-15G>A single nucleotide variant not provided [RCV003663707] Chr2:165115590 [GRCh38]
Chr2:165972100 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1833G>A (p.Leu611=) single nucleotide variant not provided [RCV003666017] Chr2:165140837 [GRCh38]
Chr2:165997347 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1023A>C (p.Ser341=) single nucleotide variant not provided [RCV003849935] Chr2:165162316 [GRCh38]
Chr2:166018826 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3150C>T (p.Ser1050=) single nucleotide variant not provided [RCV003548605] Chr2:165127874 [GRCh38]
Chr2:165984384 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3141C>T (p.Ser1047=) single nucleotide variant not provided [RCV003665027] Chr2:165127883 [GRCh38]
Chr2:165984393 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5406C>T (p.Pro1802=) single nucleotide variant SCN3A-related condition [RCV003956492]|not provided [RCV003724377] Chr2:165090747 [GRCh38]
Chr2:165947257 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1492G>A (p.Glu498Lys) single nucleotide variant not provided [RCV003697270] Chr2:165146918 [GRCh38]
Chr2:166003428 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3459A>G (p.Glu1153=) single nucleotide variant not provided [RCV003703646] Chr2:165115510 [GRCh38]
Chr2:165972020 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.38G>T (p.Ser13Ile) single nucleotide variant not provided [RCV003559807] Chr2:165176357 [GRCh38]
Chr2:166032867 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5528G>A (p.Ser1843Asn) single nucleotide variant not provided [RCV003663610] Chr2:165090625 [GRCh38]
Chr2:165947135 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2379T>C (p.Thr793=) single nucleotide variant not provided [RCV003832166] Chr2:165137891 [GRCh38]
Chr2:165994401 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4356C>A (p.Ile1452=) single nucleotide variant not provided [RCV003548543] Chr2:165095586 [GRCh38]
Chr2:165952096 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4293+13C>A single nucleotide variant not provided [RCV003700096] Chr2:165096454 [GRCh38]
Chr2:165952964 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1729A>G (p.Ile577Val) single nucleotide variant not provided [RCV003659613] Chr2:165140941 [GRCh38]
Chr2:165997451 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5490C>T (p.Asn1830=) single nucleotide variant not provided [RCV003717698] Chr2:165090663 [GRCh38]
Chr2:165947173 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3394-14G>A single nucleotide variant not provided [RCV003674303] Chr2:165115589 [GRCh38]
Chr2:165972099 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.967+14C>A single nucleotide variant not provided [RCV003856689] Chr2:165162542 [GRCh38]
Chr2:166019052 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.383+19T>A single nucleotide variant not provided [RCV003699620] Chr2:165170411 [GRCh38]
Chr2:166026921 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1057G>A (p.Val353Met) single nucleotide variant not provided [RCV003817460] Chr2:165155878 [GRCh38]
Chr2:166012388 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4911A>G (p.Gly1637=) single nucleotide variant not provided [RCV003726295] Chr2:165091242 [GRCh38]
Chr2:165947752 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5925dup (p.Pro1976fs) duplication not provided [RCV003659104] Chr2:165090227..165090228 [GRCh38]
Chr2:165946737..165946738 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1526G>A (p.Arg509Lys) single nucleotide variant not provided [RCV003664681] Chr2:165146884 [GRCh38]
Chr2:166003394 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4836G>A (p.Lys1612=) single nucleotide variant not provided [RCV003726296] Chr2:165091317 [GRCh38]
Chr2:165947827 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4833A>G (p.Glu1611=) single nucleotide variant not provided [RCV003726297] Chr2:165091320 [GRCh38]
Chr2:165947830 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.473+14A>C single nucleotide variant not provided [RCV003557950] Chr2:165168722 [GRCh38]
Chr2:166025232 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5739T>C (p.Cys1913=) single nucleotide variant not provided [RCV003548458] Chr2:165090414 [GRCh38]
Chr2:165946924 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5181C>T (p.Asp1727=) single nucleotide variant not provided [RCV003669074] Chr2:165090972 [GRCh38]
Chr2:165947482 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1173+14G>A single nucleotide variant not provided [RCV003839317] Chr2:165155748 [GRCh38]
Chr2:166012258 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4888C>T (p.Arg1630Ter) single nucleotide variant not provided [RCV003671954] Chr2:165091265 [GRCh38]
Chr2:165947775 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2796C>T (p.Ser932=) single nucleotide variant not provided [RCV003671977] Chr2:165130066 [GRCh38]
Chr2:165986576 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.602+11_602+12del deletion not provided [RCV003839544] Chr2:165164380..165164381 [GRCh38]
Chr2:166020890..166020891 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4695C>T (p.Phe1565=) single nucleotide variant not provided [RCV003668065] Chr2:165092366 [GRCh38]
Chr2:165948876 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2566-13C>A single nucleotide variant not provided [RCV003670980] Chr2:165130309 [GRCh38]
Chr2:165986819 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1494A>G (p.Glu498=) single nucleotide variant not provided [RCV003837977] Chr2:165146916 [GRCh38]
Chr2:166003426 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.664C>T (p.Arg222Ter) single nucleotide variant not provided [RCV003852249] Chr2:165163648 [GRCh38]
Chr2:166020158 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1356T>C (p.Leu452=) single nucleotide variant not provided [RCV003817456] Chr2:165154476 [GRCh38]
Chr2:166010986 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.636C>T (p.Val212=) single nucleotide variant not provided [RCV003726298] Chr2:165163676 [GRCh38]
Chr2:166020186 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4887C>A (p.Gly1629=) single nucleotide variant not provided [RCV003671272] Chr2:165091266 [GRCh38]
Chr2:165947776 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1311A>G (p.Glu437=) single nucleotide variant not provided [RCV003724559] Chr2:165154521 [GRCh38]
Chr2:166011031 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3050A>G (p.Tyr1017Cys) single nucleotide variant not provided [RCV003667277] Chr2:165127974 [GRCh38]
Chr2:165984484 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1963T>C (p.Ser655Pro) single nucleotide variant not provided [RCV003839058] Chr2:165140707 [GRCh38]
Chr2:165997217 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.258T>G (p.Asn86Lys) single nucleotide variant not provided [RCV003580135] Chr2:165176137 [GRCh38]
Chr2:166032647 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3483A>G (p.Glu1161=) single nucleotide variant not provided [RCV003725030] Chr2:165115486 [GRCh38]
Chr2:165971996 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4403T>C (p.Ile1468Thr) single nucleotide variant not provided [RCV003672152] Chr2:165095539 [GRCh38]
Chr2:165952049 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.1504C>T (p.Arg502Ter) single nucleotide variant not provided [RCV003549680] Chr2:165146906 [GRCh38]
Chr2:166003416 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3515-13A>G single nucleotide variant not provided [RCV003560677] Chr2:165113983 [GRCh38]
Chr2:165970493 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2084T>C (p.Met695Thr) single nucleotide variant not provided [RCV003672503] Chr2:165139544 [GRCh38]
Chr2:165996054 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3844-20A>C single nucleotide variant not provided [RCV003698689] Chr2:165100444 [GRCh38]
Chr2:165956954 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1215C>A (p.Val405=) single nucleotide variant not provided [RCV003700645] Chr2:165154617 [GRCh38]
Chr2:166011127 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1181G>A (p.Arg394His) single nucleotide variant not provided [RCV003700739] Chr2:165154651 [GRCh38]
Chr2:166011161 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3844-12_3844-11del deletion not provided [RCV003725267] Chr2:165100435..165100436 [GRCh38]
Chr2:165956945..165956946 [GRCh37]
Chr2:2q24.3		 benign
NM_006922.4(SCN3A):c.2247A>G (p.Val749=) single nucleotide variant not provided [RCV003724336] Chr2:165138023 [GRCh38]
Chr2:165994533 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1836T>C (p.Phe612=) single nucleotide variant not provided [RCV003725320] Chr2:165140834 [GRCh38]
Chr2:165997344 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5811C>T (p.Asp1937=) single nucleotide variant not provided [RCV003697569] Chr2:165090342 [GRCh38]
Chr2:165946852 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3393+17A>G single nucleotide variant not provided [RCV003558093] Chr2:165127614 [GRCh38]
Chr2:165984124 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3514+11T>C single nucleotide variant not provided [RCV003672456] Chr2:165115444 [GRCh38]
Chr2:165971954 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4469A>G (p.Lys1490Arg) single nucleotide variant not provided [RCV003566533] Chr2:165094441 [GRCh38]
Chr2:165950951 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5331T>C (p.Ala1777=) single nucleotide variant not provided [RCV003840601] Chr2:165090822 [GRCh38]
Chr2:165947332 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5681C>T (p.Thr1894Ile) single nucleotide variant not provided [RCV003552943] Chr2:165090472 [GRCh38]
Chr2:165946982 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2394C>G (p.Val798=) single nucleotide variant not provided [RCV003731758] Chr2:165131415 [GRCh38]
Chr2:165987925 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.169G>A (p.Ala57Thr) single nucleotide variant not provided [RCV003563772] Chr2:165176226 [GRCh38]
Chr2:166032736 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.10G>A (p.Ala4Thr) single nucleotide variant not provided [RCV003847615] Chr2:165176385 [GRCh38]
Chr2:166032895 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1444T>C (p.Leu482=) single nucleotide variant not provided [RCV003733698] Chr2:165146966 [GRCh38]
Chr2:166003476 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.888T>C (p.Asn296=) single nucleotide variant not provided [RCV003675641] Chr2:165162635 [GRCh38]
Chr2:166019145 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.695-8C>G single nucleotide variant not provided [RCV003552803] Chr2:165162836 [GRCh38]
Chr2:166019346 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2153-10delinsTACTACTCT indel not provided [RCV003862453] Chr2:165138127 [GRCh38]
Chr2:165994637 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.362C>G (p.Ala121Gly) single nucleotide variant not provided [RCV003679680] Chr2:165170451 [GRCh38]
Chr2:166026961 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1475G>C (p.Ser492Thr) single nucleotide variant not provided [RCV003711349] Chr2:165146935 [GRCh38]
Chr2:166003445 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.59A>C (p.Glu20Ala) single nucleotide variant not provided [RCV003552741] Chr2:165176336 [GRCh38]
Chr2:166032846 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2119A>C (p.Ser707Arg) single nucleotide variant not provided [RCV003567378] Chr2:165139509 [GRCh38]
Chr2:165996019 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5320T>C (p.Phe1774Leu) single nucleotide variant not provided [RCV003706529] Chr2:165090833 [GRCh38]
Chr2:165947343 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3429A>T (p.Thr1143=) single nucleotide variant not provided [RCV003847863] Chr2:165115540 [GRCh38]
Chr2:165972050 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.531G>T (p.Gly177=) single nucleotide variant not provided [RCV003734987] Chr2:165164463 [GRCh38]
Chr2:166020973 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5233T>C (p.Ser1745Pro) single nucleotide variant not provided [RCV003680522] Chr2:165090920 [GRCh38]
Chr2:165947430 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5663A>T (p.Tyr1888Phe) single nucleotide variant not provided [RCV003675578] Chr2:165090490 [GRCh38]
Chr2:165947000 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.227C>G (p.Pro76Arg) single nucleotide variant not provided [RCV003678209] Chr2:165176168 [GRCh38]
Chr2:166032678 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2277T>C (p.Asp759=) single nucleotide variant not provided [RCV003733266] Chr2:165137993 [GRCh38]
Chr2:165994503 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.393C>T (p.Ser131=) single nucleotide variant not provided [RCV003555651] Chr2:165168816 [GRCh38]
Chr2:166025326 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.162C>T (p.Asp54=) single nucleotide variant not provided [RCV003565992] Chr2:165176233 [GRCh38]
Chr2:166032743 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5359G>A (p.Glu1787Lys) single nucleotide variant not provided [RCV003683024] Chr2:165090794 [GRCh38]
Chr2:165947304 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4910G>C (p.Gly1637Ala) single nucleotide variant not provided [RCV003680851] Chr2:165091243 [GRCh38]
Chr2:165947753 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3067C>T (p.Arg1023Trp) single nucleotide variant not provided [RCV003554999] Chr2:165127957 [GRCh38]
Chr2:165984467 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1020C>T (p.Gly340=) single nucleotide variant not provided [RCV003557308] Chr2:165162319 [GRCh38]
Chr2:166018829 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3386G>A (p.Ser1129Asn) single nucleotide variant not provided [RCV003685213] Chr2:165127638 [GRCh38]
Chr2:165984148 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3966+17C>T single nucleotide variant not provided [RCV003555614] Chr2:165100285 [GRCh38]
Chr2:165956795 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5140T>C (p.Leu1714=) single nucleotide variant not provided [RCV003557042] Chr2:165091013 [GRCh38]
Chr2:165947523 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1314A>G (p.Ala438=) single nucleotide variant not provided [RCV003733417] Chr2:165154518 [GRCh38]
Chr2:166011028 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2974C>T (p.Leu992Phe) single nucleotide variant not provided [RCV003568546] Chr2:165128050 [GRCh38]
Chr2:165984560 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1945dup (p.Asp649fs) duplication Developmental and epileptic encephalopathy, 62 [RCV003985946] Chr2:165140724..165140725 [GRCh38]
Chr2:165997234..165997235 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_006922.4(SCN3A):c.1898G>C (p.Arg633Thr) single nucleotide variant not provided [RCV003684381] Chr2:165140772 [GRCh38]
Chr2:165997282 [GRCh37]
Chr2:2q24.3		 likely benign
GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1 copy number loss not specified [RCV003986391] Chr2:165813403..169865235 [GRCh37]
Chr2:2q24.3-31.1		 pathogenic
NM_006922.4(SCN3A):c.6000G>A (p.Lys2000=) single nucleotide variant not provided [RCV003733627] Chr2:165090153 [GRCh38]
Chr2:165946663 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2901C>T (p.Val967=) single nucleotide variant not provided [RCV003704097] Chr2:165129961 [GRCh38]
Chr2:165986471 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4431+11T>G single nucleotide variant not provided [RCV003733695] Chr2:165095500 [GRCh38]
Chr2:165952010 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.265-20A>T single nucleotide variant not provided [RCV003871403] Chr2:165170568 [GRCh38]
Chr2:166027078 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5541C>A (p.Ile1847=) single nucleotide variant not provided [RCV003728617] Chr2:165090612 [GRCh38]
Chr2:165947122 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3843+12A>G single nucleotide variant not provided [RCV003677515] Chr2:165112873 [GRCh38]
Chr2:165969383 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4807+14A>C single nucleotide variant not provided [RCV003840994] Chr2:165092240 [GRCh38]
Chr2:165948750 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.881A>G (p.Tyr294Cys) single nucleotide variant not provided [RCV003684834] Chr2:165162642 [GRCh38]
Chr2:166019152 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.336T>C (p.Thr112=) single nucleotide variant not provided [RCV003567249] Chr2:165170477 [GRCh38]
Chr2:166026987 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.14T>G (p.Leu5Arg) single nucleotide variant not provided [RCV003554802] Chr2:165176381 [GRCh38]
Chr2:166032891 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4746C>T (p.His1582=) single nucleotide variant not provided [RCV003681709] Chr2:165092315 [GRCh38]
Chr2:165948825 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1577C>T (p.Ser526Phe) single nucleotide variant not provided [RCV003738013] Chr2:165146833 [GRCh38]
Chr2:166003343 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4240-16T>C single nucleotide variant not provided [RCV003721831] Chr2:165096536 [GRCh38]
Chr2:165953046 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5095A>G (p.Met1699Val) single nucleotide variant not provided [RCV003551416] Chr2:165091058 [GRCh38]
Chr2:165947568 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4537-4C>G single nucleotide variant not provided [RCV003720135] Chr2:165092528 [GRCh38]
Chr2:165949038 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3557_3558delinsGC (p.Glu1186Gly) indel not provided [RCV003718847] Chr2:165113927..165113928 [GRCh38]
Chr2:165970437..165970438 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3178G>A (p.Glu1060Lys) single nucleotide variant not provided [RCV003683775] Chr2:165127846 [GRCh38]
Chr2:165984356 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.928A>G (p.Met310Val) single nucleotide variant not provided [RCV003684684] Chr2:165162595 [GRCh38]
Chr2:166019105 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 copy number loss not specified [RCV003986346] Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
NM_006922.4(SCN3A):c.3486C>A (p.Asp1162Glu) single nucleotide variant not provided [RCV003729347] Chr2:165115483 [GRCh38]
Chr2:165971993 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4732G>C (p.Val1578Leu) single nucleotide variant not provided [RCV003848659] Chr2:165092329 [GRCh38]
Chr2:165948839 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.671T>G (p.Leu224Arg) single nucleotide variant not provided [RCV003686077] Chr2:165163641 [GRCh38]
Chr2:166020151 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1592G>C (p.Ser531Thr) single nucleotide variant not provided [RCV003732944] Chr2:165146818 [GRCh38]
Chr2:166003328 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4704G>A (p.Leu1568=) single nucleotide variant not provided [RCV003867176] Chr2:165092357 [GRCh38]
Chr2:165948867 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3528G>A (p.Lys1176=) single nucleotide variant not provided [RCV003721404] Chr2:165113957 [GRCh38]
Chr2:165970467 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2922+4T>C single nucleotide variant not provided [RCV003685815] Chr2:165129936 [GRCh38]
Chr2:165986446 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5065A>T (p.Met1689Leu) single nucleotide variant not provided [RCV003675695] Chr2:165091088 [GRCh38]
Chr2:165947598 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5856C>T (p.Asn1952=) single nucleotide variant not provided [RCV003871503] Chr2:165090297 [GRCh38]
Chr2:165946807 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5824C>G (p.Gln1942Glu) single nucleotide variant not provided [RCV003722941] Chr2:165090329 [GRCh38]
Chr2:165946839 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4122C>T (p.Asp1374=) single nucleotide variant not provided [RCV003845411] Chr2:165097369 [GRCh38]
Chr2:165953879 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5787A>G (p.Lys1929=) single nucleotide variant not provided [RCV003682810] Chr2:165090366 [GRCh38]
Chr2:165946876 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4494A>G (p.Lys1498=) single nucleotide variant not provided [RCV003565256] Chr2:165094416 [GRCh38]
Chr2:165950926 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3277T>C (p.Phe1093Leu) single nucleotide variant not provided [RCV003712248] Chr2:165127747 [GRCh38]
Chr2:165984257 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1530G>A (p.Glu510=) single nucleotide variant not provided [RCV003552483] Chr2:165146880 [GRCh38]
Chr2:166003390 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4240-22_4240-18del deletion not provided [RCV003712416] Chr2:165096538..165096542 [GRCh38]
Chr2:165953048..165953052 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1548C>A (p.Asn516Lys) single nucleotide variant not provided [RCV003735972] Chr2:165146862 [GRCh38]
Chr2:166003372 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.915T>G (p.Phe305Leu) single nucleotide variant not provided [RCV003684435] Chr2:165162608 [GRCh38]
Chr2:166019118 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3386G>T (p.Ser1129Ile) single nucleotide variant not provided [RCV003870127] Chr2:165127638 [GRCh38]
Chr2:165984148 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1929G>T (p.Lys643Asn) single nucleotide variant not provided [RCV003679371] Chr2:165140741 [GRCh38]
Chr2:165997251 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3210C>T (p.Thr1070=) single nucleotide variant not provided [RCV003722307] Chr2:165127814 [GRCh38]
Chr2:165984324 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4201G>A (p.Asp1401Asn) single nucleotide variant not provided [RCV003562881] Chr2:165097290 [GRCh38]
Chr2:165953800 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4400T>A (p.Ile1467Asn) single nucleotide variant not provided [RCV003556984] Chr2:165095542 [GRCh38]
Chr2:165952052 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5439C>T (p.Leu1813=) single nucleotide variant not provided [RCV003556998] Chr2:165090714 [GRCh38]
Chr2:165947224 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1174-9T>G single nucleotide variant not provided [RCV003675444] Chr2:165154667 [GRCh38]
Chr2:166011177 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.327T>C (p.Tyr109=) single nucleotide variant not provided [RCV003556883] Chr2:165170486 [GRCh38]
Chr2:166026996 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.931A>G (p.Ser311Gly) single nucleotide variant not provided [RCV003563085] Chr2:165162592 [GRCh38]
Chr2:166019102 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5646C>T (p.Asn1882=) single nucleotide variant not provided [RCV003734754] Chr2:165090507 [GRCh38]
Chr2:165947017 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3776G>C (p.Trp1259Ser) single nucleotide variant not provided [RCV003735014] Chr2:165112952 [GRCh38]
Chr2:165969462 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2136G>A (p.Leu712=) single nucleotide variant not provided [RCV003711870] Chr2:165139492 [GRCh38]
Chr2:165996002 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.562G>T (p.Asp188Tyr) single nucleotide variant not provided [RCV003567626] Chr2:165164432 [GRCh38]
Chr2:166020942 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3657T>C (p.Ser1219=) single nucleotide variant not provided [RCV003552601] Chr2:165113828 [GRCh38]
Chr2:165970338 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1902G>A (p.Met634Ile) single nucleotide variant not provided [RCV003563134] Chr2:165140768 [GRCh38]
Chr2:165997278 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.127A>G (p.Asn43Asp) single nucleotide variant not provided [RCV003552857] Chr2:165176268 [GRCh38]
Chr2:166032778 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4528C>T (p.Arg1510Cys) single nucleotide variant not provided [RCV003710407] Chr2:165094382 [GRCh38]
Chr2:165950892 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.2168G>C (p.Arg723Thr) single nucleotide variant not provided [RCV003733845] Chr2:165138102 [GRCh38]
Chr2:165994612 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5538G>T (p.Arg1846=) single nucleotide variant not provided [RCV003679617] Chr2:165090615 [GRCh38]
Chr2:165947125 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.4294G>A (p.Val1432Ile) single nucleotide variant not provided [RCV003552840] Chr2:165095648 [GRCh38]
Chr2:165952158 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1999A>G (p.Thr667Ala) single nucleotide variant not provided [RCV003567470] Chr2:165140671 [GRCh38]
Chr2:165997181 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3373G>T (p.Glu1125Ter) single nucleotide variant not provided [RCV003567433] Chr2:165127651 [GRCh38]
Chr2:165984161 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5313G>A (p.Leu1771=) single nucleotide variant not provided [RCV003709055] Chr2:165090840 [GRCh38]
Chr2:165947350 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2290C>G (p.Leu764Val) single nucleotide variant not provided [RCV003856977] Chr2:165137980 [GRCh38]
Chr2:165994490 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1794C>T (p.His598=) single nucleotide variant not provided [RCV003563342] Chr2:165140876 [GRCh38]
Chr2:165997386 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3544G>A (p.Val1182Ile) single nucleotide variant not provided [RCV003679770] Chr2:165113941 [GRCh38]
Chr2:165970451 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.763G>A (p.Val255Met) single nucleotide variant not provided [RCV003726973] Chr2:165162760 [GRCh38]
Chr2:166019270 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5834T>G (p.Ile1945Ser) single nucleotide variant not provided [RCV003706411] Chr2:165090319 [GRCh38]
Chr2:165946829 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3088T>G (p.Phe1030Val) single nucleotide variant not provided [RCV003550350] Chr2:165127936 [GRCh38]
Chr2:165984446 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4595T>A (p.Ile1532Asn) single nucleotide variant not provided [RCV003677174] Chr2:165092466 [GRCh38]
Chr2:165948976 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.604T>C (p.Tyr202His) single nucleotide variant not provided [RCV003705447] Chr2:165163708 [GRCh38]
Chr2:166020218 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1173+19del deletion not provided [RCV003732795] Chr2:165155743 [GRCh38]
Chr2:166012253 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2486G>T (p.Gly829Val) single nucleotide variant not provided [RCV003706657] Chr2:165131323 [GRCh38]
Chr2:165987833 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.1509G>A (p.Arg503=) single nucleotide variant not provided [RCV003731576] Chr2:165146901 [GRCh38]
Chr2:166003411 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.2488del (p.Ile830fs) deletion not provided [RCV003706655] Chr2:165131321 [GRCh38]
Chr2:165987831 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3660T>C (p.Ser1220=) single nucleotide variant not provided [RCV003678488] Chr2:165113825 [GRCh38]
Chr2:165970335 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3844-4G>A single nucleotide variant not provided [RCV003704287] Chr2:165100428 [GRCh38]
Chr2:165956938 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.3646A>G (p.Ile1216Val) single nucleotide variant not provided [RCV003679240] Chr2:165113839 [GRCh38]
Chr2:165970349 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3051T>C (p.Tyr1017=) single nucleotide variant not provided [RCV003678588] Chr2:165127973 [GRCh38]
Chr2:165984483 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.5001T>G (p.Phe1667Leu) single nucleotide variant not provided [RCV003845139] Chr2:165091152 [GRCh38]
Chr2:165947662 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3211del (p.Thr1071fs) deletion not provided [RCV003541841] Chr2:165127813 [GRCh38]
Chr2:165984323 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.383+6C>G single nucleotide variant not provided [RCV003676276] Chr2:165170424 [GRCh38]
Chr2:166026934 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.500T>C (p.Phe167Ser) single nucleotide variant not provided [RCV003556626] Chr2:165164494 [GRCh38]
Chr2:166021004 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4123A>T (p.Ile1375Phe) single nucleotide variant not provided [RCV003568595] Chr2:165097368 [GRCh38]
Chr2:165953878 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1481A>G (p.Lys494Arg) single nucleotide variant not provided [RCV003564035] Chr2:165146929 [GRCh38]
Chr2:166003439 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.276A>G (p.Val92=) single nucleotide variant not provided [RCV003568656] Chr2:165170537 [GRCh38]
Chr2:166027047 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3300C>G (p.Thr1100=) single nucleotide variant not provided [RCV003728924] Chr2:165127724 [GRCh38]
Chr2:165984234 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.1915C>T (p.Pro639Ser) single nucleotide variant not provided [RCV003731555] Chr2:165140755 [GRCh38]
Chr2:165997265 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.694+2T>G single nucleotide variant Developmental and epileptic encephalopathy, 62 [RCV003988169] Chr2:165163616 [GRCh38]
Chr2:166020126 [GRCh37]
Chr2:2q24.3		 likely pathogenic
NM_006922.4(SCN3A):c.895A>G (p.Met299Val) single nucleotide variant not provided [RCV003887075] Chr2:165162628 [GRCh38]
Chr2:166019138 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.3402T>C (p.Asn1134=) single nucleotide variant SCN3A-related condition [RCV003934590] Chr2:165115567 [GRCh38]
Chr2:165972077 [GRCh37]
Chr2:2q24.3		 likely benign
NM_006922.4(SCN3A):c.603-92G>A single nucleotide variant Inborn genetic diseases [RCV003360138] Chr2:165163801 [GRCh38]
Chr2:166020311 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5476A>T (p.Ile1826Leu) single nucleotide variant Inborn genetic diseases [RCV003343060] Chr2:165090677 [GRCh38]
Chr2:165947187 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.5801G>A (p.Gly1934Glu) single nucleotide variant Inborn genetic diseases [RCV003345980] Chr2:165090352 [GRCh38]
Chr2:165946862 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_006922.4(SCN3A):c.4455G>C (p.Met1485Ile) single nucleotide variant not provided [RCV003332621] Chr2:165094455 [GRCh38]
Chr2:165950965 [GRCh37]
Chr2:2q24.3		 uncertain significance
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.

Markers in Region
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


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
  XM_047445394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343312 (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
  CP068276 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,087,526 - 165,204,050 (-)Ensembl
RefSeq Acc Id: ENST00000360093   ⟹   ENSP00000353206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,087,522 - 165,204,067 (-)Ensembl
RefSeq Acc Id: ENST00000409101   ⟹   ENSP00000386726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,089,718 - 165,203,886 (-)Ensembl
RefSeq Acc Id: ENST00000440431   ⟹   ENSP00000403348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,097,252 - 165,186,554 (-)Ensembl
RefSeq Acc Id: ENST00000453007   ⟹   ENSP00000391569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,164,393 - 165,204,050 (-)Ensembl
RefSeq Acc Id: ENST00000465043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,092,256 - 165,093,828 (-)Ensembl
RefSeq Acc Id: ENST00000471697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,095,511 - 165,097,614 (-)Ensembl
RefSeq Acc Id: ENST00000638473   ⟹   ENSP00000491552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,087,542 - 165,186,747 (-)Ensembl
RefSeq Acc Id: ENST00000639244   ⟹   ENSP00000492251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,087,542 - 165,203,881 (-)Ensembl
RefSeq Acc Id: ENST00000640652   ⟹   ENSP00000492807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,087,530 - 165,186,620 (-)Ensembl
RefSeq Acc Id: ENST00000658209   ⟹   ENSP00000499598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,088,822 - 165,140,818 (-)Ensembl
RefSeq Acc Id: ENST00000668657   ⟹   ENSP00000499420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,121,047 - 165,203,891 (-)Ensembl
RefSeq Acc Id: ENST00000706067   ⟹   ENSP00000516211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,087,542 - 165,203,902 (-)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
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)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
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)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
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511610   ⟹   XP_011509912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511613   ⟹   XP_011509915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,140,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004660   ⟹   XP_016860149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004661   ⟹   XP_016860150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004662   ⟹   XP_016860151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004664   ⟹   XP_016860153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,115,583 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004665   ⟹   XP_016860154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,115,583 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004666   ⟹   XP_016860155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,115,583 - 165,204,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445394   ⟹   XP_047301350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,087,526 - 165,204,050 (-)NCBI
RefSeq Acc Id: XM_047445395   ⟹   XP_047301351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,106,817 - 165,204,050 (-)NCBI
RefSeq Acc Id: XM_054343303   ⟹   XP_054199278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343304   ⟹   XP_054199279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343305   ⟹   XP_054199280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343306   ⟹   XP_054199281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343307   ⟹   XP_054199282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,544,858 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343308   ⟹   XP_054199283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,544,858 - 165,598,326 (-)NCBI
RefSeq Acc Id: XM_054343309   ⟹   XP_054199284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,564,022 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343310   ⟹   XP_054199285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,572,911 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343311   ⟹   XP_054199286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,572,911 - 165,661,382 (-)NCBI
RefSeq Acc Id: XM_054343312   ⟹   XP_054199287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,572,911 - 165,661,382 (-)NCBI
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_016860153 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860154 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860155 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301350 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301351 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199278 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199279 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199280 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199287 (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  
Ensembl Protein ENSP00000283254
  ENSP00000283254.7
  ENSP00000386726
  ENSP00000386726.3
  ENSP00000391569.1
  ENSP00000403348
  ENSP00000403348.1
  ENSP00000491552.1
  ENSP00000492251
  ENSP00000492251.1
  ENSP00000492807
  ENSP00000492807.1
  ENSP00000499420
  ENSP00000499420.1
  ENSP00000499598.1
  ENSP00000516211
  ENSP00000516211.1
GenBank Protein Q9NY46 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001075145   ⟸   NM_001081676
- Peptide Label: isoform 2
- UniProtKB: Q9C007 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_008853   ⟸   NM_006922
- Peptide Label: isoform 1
- UniProtKB: A0A1W2PRD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001075146   ⟸   NM_001081677
- Peptide Label: isoform 3
- UniProtKB: Q9C007 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509912   ⟸   XM_011511610
- Peptide Label: isoform X2
- UniProtKB: A0A1W2PRD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509915   ⟸   XM_011511613
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016860151   ⟸   XM_017004662
- Peptide Label: isoform X5
- UniProtKB: Q9C007 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860150   ⟸   XM_017004661
- Peptide Label: isoform X3
- UniProtKB: A0A1W2PRD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860149   ⟸   XM_017004660
- Peptide Label: isoform X1
- UniProtKB: Q9UPD1 (UniProtKB/Swiss-Prot),   Q9P2J1 (UniProtKB/Swiss-Prot),   Q9NYK2 (UniProtKB/Swiss-Prot),   Q9C006 (UniProtKB/Swiss-Prot),   Q9BZB3 (UniProtKB/Swiss-Prot),   Q53SX0 (UniProtKB/Swiss-Prot),   Q16142 (UniProtKB/Swiss-Prot),   Q9Y6P4 (UniProtKB/Swiss-Prot),   Q9NY46 (UniProtKB/Swiss-Prot),   A0A1W2PRD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860155   ⟸   XM_017004666
- Peptide Label: isoform X10
- UniProtKB: A0A1W2PSB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860154   ⟸   XM_017004665
- Peptide Label: isoform X9
- UniProtKB: A0A590UJH3 (UniProtKB/TrEMBL),   A0A1W2PSB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860153   ⟸   XM_017004664
- Peptide Label: isoform X8
- UniProtKB: A0A1W2PSB2 (UniProtKB/TrEMBL)
- 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
RefSeq Acc Id: XP_047301350   ⟸   XM_047445394
- Peptide Label: isoform X4
- UniProtKB: A0A994J5P2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301351   ⟸   XM_047445395
- Peptide Label: isoform X7
RefSeq Acc Id: ENSP00000516211   ⟸   ENST00000706067
RefSeq Acc Id: XP_054199282   ⟸   XM_054343307
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054199280   ⟸   XM_054343305
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054199281   ⟸   XM_054343306
- Peptide Label: isoform X4
- UniProtKB: A0A994J5P2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199278   ⟸   XM_054343303
- Peptide Label: isoform X1
- UniProtKB: Q9UPD1 (UniProtKB/Swiss-Prot),   Q9P2J1 (UniProtKB/Swiss-Prot),   Q9NYK2 (UniProtKB/Swiss-Prot),   Q9NY46 (UniProtKB/Swiss-Prot),   Q9C006 (UniProtKB/Swiss-Prot),   Q9BZB3 (UniProtKB/Swiss-Prot),   Q53SX0 (UniProtKB/Swiss-Prot),   Q16142 (UniProtKB/Swiss-Prot),   Q9Y6P4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054199279   ⟸   XM_054343304
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199283   ⟸   XM_054343308
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054199284   ⟸   XM_054343309
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054199287   ⟸   XM_054343312
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054199286   ⟸   XM_054343311
- Peptide Label: isoform X9
- UniProtKB: A0A590UJH3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199285   ⟸   XM_054343310
- Peptide Label: isoform X8
Protein Domains
Ion transport   IQ   Sodium ion transport-associated   Voltage-gated Na+ ion channel cytoplasmic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY46-F1-model_v2 AlphaFold Q9NY46 1-2000 view protein structure

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

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 Transcript ENST00000283254 ENTREZGENE
  ENST00000283254.12 UniProtKB/Swiss-Prot
  ENST00000409101 ENTREZGENE
  ENST00000409101.7 UniProtKB/Swiss-Prot
  ENST00000440431 ENTREZGENE
  ENST00000440431.6 UniProtKB/TrEMBL
  ENST00000453007.1 UniProtKB/TrEMBL
  ENST00000638473.1 UniProtKB/TrEMBL
  ENST00000639244 ENTREZGENE
  ENST00000639244.1 UniProtKB/TrEMBL
  ENST00000640652 ENTREZGENE
  ENST00000640652.1 UniProtKB/TrEMBL
  ENST00000658209.1 UniProtKB/TrEMBL
  ENST00000668657 ENTREZGENE
  ENST00000668657.1 UniProtKB/TrEMBL
  ENST00000706067 ENTREZGENE
  ENST00000706067.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  iswi atpase 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
PANTHER PTHR10037 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SODIUM CHANNEL PROTEIN TYPE 3 SUBUNIT ALPHA 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
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PQ58_HUMAN UniProtKB/TrEMBL
  A0A1W2PRD1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PSB2 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJH3 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJW3_HUMAN UniProtKB/TrEMBL
  A0A994J5P2 ENTREZGENE, UniProtKB/TrEMBL
  C9JBM7_HUMAN UniProtKB/TrEMBL
  E7EUE6_HUMAN UniProtKB/TrEMBL
  L8E9G6_HUMAN UniProtKB/TrEMBL
  Q16142 ENTREZGENE
  Q53SX0 ENTREZGENE
  Q9BZB3 ENTREZGENE
  Q9C006 ENTREZGENE
  Q9C007 ENTREZGENE, UniProtKB/TrEMBL
  Q9GZM4_HUMAN UniProtKB/TrEMBL
  Q9NY46 ENTREZGENE
  Q9NYK2 ENTREZGENE
  Q9P2J1 ENTREZGENE
  Q9UPD1 ENTREZGENE
  Q9Y6P4 ENTREZGENE
  SCN3A_HUMAN 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  SCN3A  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  SCN3A  sodium channel, voltage-gated, type III, alpha subunit  Symbol and/or name change 5135510 APPROVED