CNTN2 (contactin 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: CNTN2 (contactin 2) Homo sapiens
Analyze
Symbol: CNTN2
Name: contactin 2
RGD ID: 734311
HGNC Page HGNC:2172
Description: Predicted to enable cell-cell adhesion mediator activity. Involved in presynaptic membrane organization. Is active in postsynaptic membrane. Implicated in familial adult myoclonic epilepsy 5. Biomarker of high grade glioma and lung disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: axonal glycoprotein TAG-1; axonin-1 cell adhesion molecule; AXT; contactin 2 (axonal); contactin 2 (transiently expressed); contactin-2; DKFZp781D102; EPEO5; FAME5; FLJ37193; FLJ42746; MGC157722; TAG-1; TAX; TAX-1; TAX1; transient axonal glycoprotein 1; transiently-expressed axonal glycoprotein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381205,042,949 - 205,078,289 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1205,042,937 - 205,078,289 (+)EnsemblGRCh38hg38GRCh38
GRCh371205,012,077 - 205,047,417 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361203,278,963 - 203,313,761 (+)NCBINCBI36Build 36hg18NCBI36
Build 341201,743,996 - 201,778,793NCBI
Celera1178,147,407 - 178,182,200 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1176,177,847 - 176,212,673 (+)NCBIHuRef
CHM1_11206,435,687 - 206,470,502 (+)NCBICHM1_1
T2T-CHM13v2.01204,307,317 - 204,342,659 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (ISO)
alpha-amanitin  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (ISO)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
decabromodiphenyl ether  (EXP)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (EXP)
glyphosate  (ISO)
lead(0)  (EXP)
Licochalcone B  (EXP)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sevoflurane  (ISO)
sodium arsenite  (ISO)
Tetrachlorobisphenol A  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
triazines  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Increased expression of HBZ and Foxp3 mRNA in bronchoalveolar lavage cells taken from human T-lymphotropic virus type 1-associated lung disorder patients. Nakayama Y, etal., Intern Med. 2013;52(23):2599-609. doi: 10.2169/internalmedicine.52.0845.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. The gene for the axonal cell adhesion molecule TAX-1 is amplified and aberrantly expressed in malignant gliomas. Rickman DS, etal., Cancer Res 2001 Mar 1;61(5):2162-8.
8. Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. Yoshihara Y, etal., J Neurobiol 1995 Sep;28(1):51-69.
Additional References at PubMed
PMID:1720120   PMID:1838307   PMID:3272160   PMID:8242070   PMID:8307567   PMID:8344273   PMID:8425542   PMID:8586412   PMID:8663515   PMID:9403076   PMID:9837910   PMID:10830169  
PMID:12139915   PMID:12477932   PMID:12779347   PMID:12963709   PMID:12975355   PMID:14702039   PMID:15107832   PMID:15146197   PMID:15340161   PMID:16335952   PMID:16344560   PMID:16611882  
PMID:16710414   PMID:16767081   PMID:17766378   PMID:19064727   PMID:19086053   PMID:19416878   PMID:19451620   PMID:19776380   PMID:20029029   PMID:21696500   PMID:21873635   PMID:22003931  
PMID:22462668   PMID:23518707   PMID:24026423   PMID:24405708   PMID:26217189   PMID:26718491   PMID:27420286   PMID:27621318   PMID:28533267   PMID:29684683   PMID:29859129   PMID:31623079  
PMID:32806791   PMID:32814053   PMID:33362245   PMID:33961781   PMID:34461288   PMID:36734072   PMID:37565279   PMID:38460076  


Genomics

Comparative Map Data
CNTN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381205,042,949 - 205,078,289 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1205,042,937 - 205,078,289 (+)EnsemblGRCh38hg38GRCh38
GRCh371205,012,077 - 205,047,417 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361203,278,963 - 203,313,761 (+)NCBINCBI36Build 36hg18NCBI36
Build 341201,743,996 - 201,778,793NCBI
Celera1178,147,407 - 178,182,200 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1176,177,847 - 176,212,673 (+)NCBIHuRef
CHM1_11206,435,687 - 206,470,502 (+)NCBICHM1_1
T2T-CHM13v2.01204,307,317 - 204,342,659 (+)NCBIT2T-CHM13v2.0
Cntn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391132,437,163 - 132,470,989 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1132,437,165 - 132,470,994 (-)EnsemblGRCm39 Ensembl
GRCm381132,509,425 - 132,543,251 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1132,509,427 - 132,543,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv371134,406,002 - 134,439,517 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361134,336,973 - 134,370,462 (-)NCBIMGSCv36mm8
Celera1135,118,092 - 135,152,003 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map157.42NCBI
Cntn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81346,497,269 - 46,528,112 (-)NCBIGRCr8
mRatBN7.21343,942,868 - 43,975,973 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1343,947,265 - 43,975,887 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1346,554,249 - 46,582,887 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01347,842,379 - 47,871,008 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01345,103,086 - 45,131,717 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01349,280,913 - 49,314,061 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1349,285,310 - 49,313,940 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01354,356,315 - 54,389,667 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41345,399,915 - 45,428,789 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11345,413,957 - 45,442,832 (-)NCBI
Celera1344,281,845 - 44,310,387 (-)NCBICelera
Cytogenetic Map13q13NCBI
Cntn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540640,831,850 - 40,858,569 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540640,831,897 - 40,862,445 (+)NCBIChiLan1.0ChiLan1.0
CNTN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2144,298,727 - 44,333,562 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1144,264,002 - 44,298,806 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01180,645,259 - 180,680,081 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11184,931,902 - 184,966,482 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,931,497 - 184,966,482 (+)Ensemblpanpan1.1panPan2
CNTN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1381,570,598 - 1,600,524 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl381,576,898 - 1,596,621 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha381,661,917 - 1,694,727 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0381,564,191 - 1,597,016 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl381,563,948 - 1,596,983 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1381,560,461 - 1,593,270 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0381,951,695 - 1,980,625 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0382,151,770 - 2,184,597 (+)NCBIUU_Cfam_GSD_1.0
Cntn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934470,057,146 - 70,080,384 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365577,297,422 - 7,320,846 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365577,297,429 - 7,320,666 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNTN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl965,736,740 - 65,776,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1965,737,488 - 65,776,412 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CNTN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12524,262,092 - 24,296,740 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2524,261,651 - 24,296,850 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605525,018,404 - 25,053,686 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cntn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248076,056,339 - 6,073,588 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248076,052,591 - 6,080,421 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNTN2
770 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005076.5(CNTN2):c.536C>T (p.Thr179Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000529120]|not specified [RCV004024283] Chr1:205059132 [GRCh38]
Chr1:205028260 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2193G>C (p.Trp731Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001809471]|not provided [RCV000520929] Chr1:205069558 [GRCh38]
Chr1:205038686 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1309C>G (p.Leu437Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000553876]|not provided [RCV004714062] Chr1:205064390 [GRCh38]
Chr1:205033518 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000554744] Chr1:205064672 [GRCh38]
Chr1:205033800 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.63C>T (p.Ser21=) single nucleotide variant CNTN2-related disorder [RCV003952855]|Epilepsy, familial adult myoclonic, 5 [RCV000546283] Chr1:205053248 [GRCh38]
Chr1:205022376 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000543663] Chr1:205059677 [GRCh38]
Chr1:205028805 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2583G>A (p.Ala861=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000527937]|not provided [RCV004714066] Chr1:205071985 [GRCh38]
Chr1:205041113 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.105C>T (p.Phe35=) single nucleotide variant CNTN2-related disorder [RCV003952854]|Epilepsy, familial adult myoclonic, 5 [RCV000547406] Chr1:205057955 [GRCh38]
Chr1:205027083 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000543164]|not specified [RCV004024282] Chr1:205065879 [GRCh38]
Chr1:205035007 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.504del (p.Trp168fs) deletion Epilepsy, familial adult myoclonic, 5 [RCV000054805] Chr1:205059099 [GRCh38]
Chr1:205028227 [GRCh37]
Chr1:1q32.1		 pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2		 pathogenic
NM_005076.3(CNTN2):c.2566G>A (p.Asp856Asn) single nucleotide variant Malignant melanoma [RCV000064478] Chr1:205071968 [GRCh38]
Chr1:205041096 [GRCh37]
Chr1:203307719 [NCBI36]
Chr1:1q32.1		 not provided
NM_005076.5(CNTN2):c.2464A>C (p.Lys822Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001348780]|not specified [RCV004036565] Chr1:205070458 [GRCh38]
Chr1:205039586 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) single nucleotide variant CNTN2-related disorder [RCV003925694]|Epilepsy, familial adult myoclonic, 5 [RCV000542723] Chr1:205064636 [GRCh38]
Chr1:205033764 [GRCh37]
Chr1:1q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005076.5(CNTN2):c.1516C>A (p.Arg506=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000543525]|not provided [RCV004714063] Chr1:205064747 [GRCh38]
Chr1:205033875 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1241-1G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001809470]|not provided [RCV000519113] Chr1:205064321 [GRCh38]
Chr1:205033449 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000625909] Chr1:205061966 [GRCh38]
Chr1:205031094 [GRCh37]
Chr1:1q32.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005076.5(CNTN2):c.1896C>T (p.Phe632=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000548519]|not provided [RCV004714065] Chr1:205066520 [GRCh38]
Chr1:205035648 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1392-6C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000530132] Chr1:205064617 [GRCh38]
Chr1:205033745 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg) single nucleotide variant CNTN2-related disorder [RCV003945308]|Epilepsy, familial adult myoclonic, 5 [RCV000526508]|not provided [RCV004711180]|not specified [RCV005056164] Chr1:205069520 [GRCh38]
Chr1:205038648 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000549877] Chr1:205069497 [GRCh38]
Chr1:205038625 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2469G>A (p.Gly823=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000551782] Chr1:205070463 [GRCh38]
Chr1:205039591 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.514G>A (p.Glu172Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000553556]|not specified [RCV004897653] Chr1:205059110 [GRCh38]
Chr1:205028238 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001079625]|not provided [RCV000549061] Chr1:205061394 [GRCh38]
Chr1:205030522 [GRCh37]
Chr1:1q32.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000530556] Chr1:205065827 [GRCh38]
Chr1:205034955 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.423C>T (p.Asp141=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000532901] Chr1:205058599 [GRCh38]
Chr1:205027727 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.358G>A (p.Val120Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000552208] Chr1:205058323 [GRCh38]
Chr1:205027451 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000539092] Chr1:205069970 [GRCh38]
Chr1:205039098 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000560621]|not provided [RCV000996111] Chr1:205065262 [GRCh38]
Chr1:205034390 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1241-3T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000540688] Chr1:205064319 [GRCh38]
Chr1:205033447 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.689C>T (p.Ala230Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000558842]|not specified [RCV004024284] Chr1:205059285 [GRCh38]
Chr1:205028413 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000536448] Chr1:205058036 [GRCh38]
Chr1:205027164 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q32.1(chr1:204907784-205052260)x3 copy number gain See cases [RCV000447209] Chr1:204907784..205052260 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1(chr1:204974667-205046024)x3 copy number gain See cases [RCV000447340] Chr1:204974667..205046024 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1q32.1(chr1:204907784-205027918)x3 copy number gain See cases [RCV000446666] Chr1:204907784..205027918 [GRCh37]
Chr1:1q32.1		 conflicting data from submitters
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) single nucleotide variant CNTN2-related disorder [RCV003942678]|Epilepsy, familial adult myoclonic, 5 [RCV001079956]|not provided [RCV000514817] Chr1:205059101 [GRCh38]
Chr1:205028229 [GRCh37]
Chr1:1q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005076.5(CNTN2):c.2657T>A (p.Val886Glu) single nucleotide variant not provided [RCV000433695] Chr1:205072059 [GRCh38]
Chr1:205041187 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000530898]|not provided [RCV001584332] Chr1:205064691 [GRCh38]
Chr1:205033819 [GRCh37]
Chr1:1q32.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q32.1(chr1:205012520-205046083)x3 copy number gain See cases [RCV000448577] Chr1:205012520..205046083 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2273_2274delinsAT (p.Trp758Tyr) indel Epilepsy, familial adult myoclonic, 5 [RCV001045450]|not provided [RCV000479336] Chr1:205069903..205069904 [GRCh38]
Chr1:205039031..205039032 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1229T>C (p.Leu410Pro) single nucleotide variant not provided [RCV000479416] Chr1:205062558 [GRCh38]
Chr1:205031686 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1666C>G (p.Pro556Ala) single nucleotide variant not provided [RCV000483451] Chr1:205065233 [GRCh38]
Chr1:205034361 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001420657]|not provided [RCV000480895] Chr1:205061378 [GRCh38]
Chr1:205030506 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1501G>A (p.Gly501Arg) single nucleotide variant not provided [RCV000485045] Chr1:205064732 [GRCh38]
Chr1:205033860 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu) single nucleotide variant CNTN2-related disorder [RCV003942596]|Epilepsy, familial adult myoclonic, 5 [RCV001082154]|not provided [RCV000486057] Chr1:205065223 [GRCh38]
Chr1:205034351 [GRCh37]
Chr1:1q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000528101] Chr1:205062444 [GRCh38]
Chr1:205031572 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000560739] Chr1:205061267 [GRCh38]
Chr1:205030395 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2662G>A (p.Val888Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000539945] Chr1:205072064 [GRCh38]
Chr1:205041192 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3		 pathogenic
NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000537239] Chr1:205067157 [GRCh38]
Chr1:205036285 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.297C>T (p.Asn99=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000541289]|not provided [RCV001541294] Chr1:205058262 [GRCh38]
Chr1:205027390 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000560279]|not provided [RCV004714064] Chr1:205058028 [GRCh38]
Chr1:205027156 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.787G>A (p.Ala263Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581911]|not specified [RCV004323015] Chr1:205059672 [GRCh38]
Chr1:205028800 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.821G>A (p.Arg274His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000536992]|not specified [RCV004024286] Chr1:205061268 [GRCh38]
Chr1:205030396 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651694] Chr1:205059182 [GRCh38]
Chr1:205028310 [GRCh37]
Chr1:1q32.1		 pathogenic|uncertain significance
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651695] Chr1:205072010 [GRCh38]
Chr1:205041138 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.215+6G>C single nucleotide variant CNTN2-related disorder [RCV003928122]|Epilepsy, familial adult myoclonic, 5 [RCV000651696] Chr1:205058071 [GRCh38]
Chr1:205027199 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651697] Chr1:205064642 [GRCh38]
Chr1:205033770 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651698]|not specified [RCV004609468] Chr1:205072079 [GRCh38]
Chr1:205041207 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651699] Chr1:205062554 [GRCh38]
Chr1:205031682 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651700] Chr1:205064425 [GRCh38]
Chr1:205033553 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651701] Chr1:205069528 [GRCh38]
Chr1:205038656 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2964G>A (p.Gly988=) single nucleotide variant CNTN2-related disorder [RCV003918066]|Epilepsy, familial adult myoclonic, 5 [RCV000651702] Chr1:205073187 [GRCh38]
Chr1:205042315 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651703] Chr1:205066593 [GRCh38]
Chr1:205035721 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651704] Chr1:205059148 [GRCh38]
Chr1:205028276 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651705]|not provided [RCV004711274] Chr1:205059109 [GRCh38]
Chr1:205028237 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.609C>T (p.Gly203=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000651706] Chr1:205059205 [GRCh38]
Chr1:205028333 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000533264]|not provided [RCV004714068] Chr1:205073145 [GRCh38]
Chr1:205042273 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000556501]|not provided [RCV004597827] Chr1:205066599 [GRCh38]
Chr1:205035727 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000535014]|not specified [RCV004024285] Chr1:205059589 [GRCh38]
Chr1:205028717 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2886C>T (p.His962=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000552586]|not provided [RCV004714067] Chr1:205073109 [GRCh38]
Chr1:205042237 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000701266]|not specified [RCV004026548] Chr1:205064448 [GRCh38]
Chr1:205033576 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000687508] Chr1:205058200 [GRCh38]
Chr1:205027328 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000684972]|not specified [RCV004026178] Chr1:205073680 [GRCh38]
Chr1:205042808 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000700754] Chr1:205073708 [GRCh38]
Chr1:205042836 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000689704] Chr1:205066539 [GRCh38]
Chr1:205035667 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000693483]|not specified [RCV004609490] Chr1:205072088 [GRCh38]
Chr1:205041216 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000693541] Chr1:205066587 [GRCh38]
Chr1:205035715 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000693800]|not specified [RCV004025168] Chr1:205072492 [GRCh38]
Chr1:205041620 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.635A>T (p.His212Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000703025] Chr1:205059231 [GRCh38]
Chr1:205028359 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000692587] Chr1:205058034 [GRCh38]
Chr1:205027162 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1295G>A (p.Arg432His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000693153] Chr1:205064376 [GRCh38]
Chr1:205033504 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000695471] Chr1:205064726 [GRCh38]
Chr1:205033854 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.223A>G (p.Met75Val) single nucleotide variant CNTN2-related disorder [RCV003953246]|Epilepsy, familial adult myoclonic, 5 [RCV000704725]|not provided [RCV003420259] Chr1:205058188 [GRCh38]
Chr1:205027316 [GRCh37]
Chr1:1q32.1		 benign|likely benign|uncertain significance
NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000695839] Chr1:205058600 [GRCh38]
Chr1:205027728 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000691235] Chr1:205066444 [GRCh38]
Chr1:205035572 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000691304] Chr1:205073102 [GRCh38]
Chr1:205042230 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000689549] Chr1:205059630 [GRCh38]
Chr1:205028758 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001404273] Chr1:205073157 [GRCh38]
Chr1:205042285 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2196+42C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001588053]|not provided [RCV004715528] Chr1:205069603 [GRCh38]
Chr1:205038731 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1122G>A (p.Glu374=) single nucleotide variant not provided [RCV000966135] Chr1:205062451 [GRCh38]
Chr1:205031579 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1545C>G (p.Pro515=) single nucleotide variant not provided [RCV000904218] Chr1:205065112 [GRCh38]
Chr1:205034240 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1980T>C (p.Pro660=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002068670] Chr1:205067105 [GRCh38]
Chr1:205036233 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=) single nucleotide variant CNTN2-related disorder [RCV003960630]|Epilepsy, familial adult myoclonic, 5 [RCV000951461] Chr1:205070508 [GRCh38]
Chr1:205039636 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp) single nucleotide variant CNTN2-related disorder [RCV003903224]|Epilepsy, familial adult myoclonic, 5 [RCV000951496]|not specified [RCV004029823] Chr1:205058064 [GRCh38]
Chr1:205027192 [GRCh37]
Chr1:1q32.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005076.5(CNTN2):c.2545-9C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000924937] Chr1:205071938 [GRCh38]
Chr1:205041066 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.765G>A (p.Gln255=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000924940] Chr1:205059650 [GRCh38]
Chr1:205028778 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000964591] Chr1:205073711 [GRCh38]
Chr1:205042839 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1224C>T (p.Ala408=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000966600] Chr1:205062553 [GRCh38]
Chr1:205031681 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1114C>T (p.Arg372Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002065677] Chr1:205062443 [GRCh38]
Chr1:205031571 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.39G>A (p.Leu13=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001422483] Chr1:205053224 [GRCh38]
Chr1:205022352 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1221C>T (p.Ser407=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002065686] Chr1:205062550 [GRCh38]
Chr1:205031678 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1602C>T (p.His534=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000967154] Chr1:205065169 [GRCh38]
Chr1:205034297 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.967G>A (p.Val323Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001055435] Chr1:205061414 [GRCh38]
Chr1:205030542 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1289C>T (p.Ala430Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001062219] Chr1:205064370 [GRCh38]
Chr1:205033498 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001061499]|not specified [RCV004031961] Chr1:205067162 [GRCh38]
Chr1:205036290 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2380C>T (p.Arg794Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001061638]|not specified [RCV004030430] Chr1:205070010 [GRCh38]
Chr1:205039138 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.305A>C (p.Lys102Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001058626]|not specified [RCV004031850] Chr1:205058270 [GRCh38]
Chr1:205027398 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1888C>T (p.Arg630Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001051511] Chr1:205066512 [GRCh38]
Chr1:205035640 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1141C>T (p.Arg381Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001038007] Chr1:205062470 [GRCh38]
Chr1:205031598 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.215+6G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001052421] Chr1:205058071 [GRCh38]
Chr1:205027199 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001070677]|not specified [RCV004030760] Chr1:205073224 [GRCh38]
Chr1:205042352 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1277G>A (p.Arg426His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001060892] Chr1:205064358 [GRCh38]
Chr1:205033486 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3013+6G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000804295] Chr1:205073242 [GRCh38]
Chr1:205042370 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2544+3G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000815855] Chr1:205070541 [GRCh38]
Chr1:205039669 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1296C>T (p.Arg432=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001499738] Chr1:205064377 [GRCh38]
Chr1:205033505 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000922420] Chr1:205069495 [GRCh38]
Chr1:205038623 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1359C>T (p.Ser453=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001457893] Chr1:205064440 [GRCh38]
Chr1:205033568 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001494818] Chr1:205073103 [GRCh38]
Chr1:205042231 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2019G>T (p.Leu673=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001432770] Chr1:205067144 [GRCh38]
Chr1:205036272 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.318C>T (p.Ala106=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000945729] Chr1:205058283 [GRCh38]
Chr1:205027411 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001415803] Chr1:205072114 [GRCh38]
Chr1:205041242 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1125G>A (p.Val375=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000904475] Chr1:205062454 [GRCh38]
Chr1:205031582 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000877783] Chr1:205064368 [GRCh38]
Chr1:205033496 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_005076.5(CNTN2):c.1914C>T (p.Ile638=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000917281] Chr1:205066538 [GRCh38]
Chr1:205035666 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1696-8G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001397933] Chr1:205065781 [GRCh38]
Chr1:205034909 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000936332] Chr1:205064738 [GRCh38]
Chr1:205033866 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1q32.1(chr1:204954317-205346803)x1 copy number loss not provided [RCV001005168] Chr1:204954317..205346803 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2506G>A (p.Val836Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000797815]|not specified [RCV004027933] Chr1:205070500 [GRCh38]
Chr1:205039628 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000799386] Chr1:205065122 [GRCh38]
Chr1:205034250 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1034G>A (p.Arg345His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000794065]|not specified [RCV004027470] Chr1:205061925 [GRCh38]
Chr1:205031053 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000814333]|not specified [RCV004028814] Chr1:205061360 [GRCh38]
Chr1:205030488 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000819768] Chr1:205073692 [GRCh38]
Chr1:205042820 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1986C>A (p.Asn662Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000803408]|not specified [RCV004028142] Chr1:205067111 [GRCh38]
Chr1:205036239 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2002G>A (p.Glu668Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000794712]|not specified [RCV004027499] Chr1:205067127 [GRCh38]
Chr1:205036255 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000803941] Chr1:205064670 [GRCh38]
Chr1:205033798 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000817078]|not provided [RCV001766722] Chr1:205064747 [GRCh38]
Chr1:205033875 [GRCh37]
Chr1:1q32.1		 pathogenic|uncertain significance
NM_005076.5(CNTN2):c.1519+10G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000893155] Chr1:205064760 [GRCh38]
Chr1:205033888 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000802381]|not specified [RCV004028104] Chr1:205072031 [GRCh38]
Chr1:205041159 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.158C>T (p.Thr53Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000800493]|not specified [RCV004028026] Chr1:205058008 [GRCh38]
Chr1:205027136 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000800592] Chr1:205064371 [GRCh38]
Chr1:205033499 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2514G>C (p.Gln838His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000823455] Chr1:205070508 [GRCh38]
Chr1:205039636 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3092T>C (p.Met1031Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000809872] Chr1:205073734 [GRCh38]
Chr1:205042862 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000810035] Chr1:205064669 [GRCh38]
Chr1:205033797 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000805245]|not specified [RCV004028212] Chr1:205067229 [GRCh38]
Chr1:205036357 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2483A>G (p.Glu828Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000822248] Chr1:205070477 [GRCh38]
Chr1:205039605 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2026A>G (p.Thr676Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000792524] Chr1:205067151 [GRCh38]
Chr1:205036279 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000820163] Chr1:205062500 [GRCh38]
Chr1:205031628 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.949G>A (p.Val317Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000823616]|not specified [RCV004029147] Chr1:205061396 [GRCh38]
Chr1:205030524 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.850T>C (p.Trp284Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001045386] Chr1:205061297 [GRCh38]
Chr1:205030425 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_005076.5(CNTN2):c.3090G>A (p.Ala1030=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001422881] Chr1:205073732 [GRCh38]
Chr1:205042860 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1517G>A (p.Arg506Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001231101] Chr1:205064748 [GRCh38]
Chr1:205033876 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1861G>A (p.Asp621Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001236896]|not specified [RCV004033326] Chr1:205066485 [GRCh38]
Chr1:205035613 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.415G>A (p.Glu139Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001220867] Chr1:205058591 [GRCh38]
Chr1:205027719 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2196+5G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001205265]|not provided [RCV001773459] Chr1:205069566 [GRCh38]
Chr1:205038694 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NM_005076.5(CNTN2):c.2688T>A (p.Thr896=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001223746] Chr1:205072090 [GRCh38]
Chr1:205041218 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2549G>A (p.Arg850His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001214866] Chr1:205071951 [GRCh38]
Chr1:205041079 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.973+5A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001204034] Chr1:205061425 [GRCh38]
Chr1:205030553 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1706T>C (p.Ile569Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001226087] Chr1:205065799 [GRCh38]
Chr1:205034927 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.845C>T (p.Pro282Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001247174] Chr1:205061292 [GRCh38]
Chr1:205030420 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2513A>C (p.Gln838Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001230236] Chr1:205070507 [GRCh38]
Chr1:205039635 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000986507]|not provided [RCV004714172] Chr1:205061988 [GRCh38]
Chr1:205031116 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.2432-2A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741242]|not provided [RCV000996112] Chr1:205070424 [GRCh38]
Chr1:205039552 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.2711A>G (p.Asn904Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001210986]|not provided [RCV000996113] Chr1:205072113 [GRCh38]
Chr1:205041241 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1653C>T (p.Ile551=) single nucleotide variant CNTN2-related disorder [RCV003977949]|Epilepsy, familial adult myoclonic, 5 [RCV000908326] Chr1:205065220 [GRCh38]
Chr1:205034348 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001460447] Chr1:205065208 [GRCh38]
Chr1:205034336 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.159G>A (p.Thr53=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001459151] Chr1:205058009 [GRCh38]
Chr1:205027137 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001441343] Chr1:205073223 [GRCh38]
Chr1:205042351 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.537G>C (p.Thr179=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000896714] Chr1:205059133 [GRCh38]
Chr1:205028261 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.846G>A (p.Pro282=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000910711] Chr1:205061293 [GRCh38]
Chr1:205030421 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1860C>T (p.Gly620=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000928831] Chr1:205066484 [GRCh38]
Chr1:205035612 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV000951960] Chr1:205073208 [GRCh38]
Chr1:205042336 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.797+7G>A single nucleotide variant not provided [RCV000940685] Chr1:205059689 [GRCh38]
Chr1:205028817 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.886G>A (p.Val296Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001212294]|not specified [RCV004033850] Chr1:205061333 [GRCh38]
Chr1:205030461 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.383G>A (p.Arg128His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001049209] Chr1:205058348 [GRCh38]
Chr1:205027476 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.541G>A (p.Gly181Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001218731] Chr1:205059137 [GRCh38]
Chr1:205028265 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2162G>A (p.Gly721Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001035471] Chr1:205069527 [GRCh38]
Chr1:205038655 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1970G>A (p.Arg657Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001051027]|not specified [RCV004031581] Chr1:205066594 [GRCh38]
Chr1:205035722 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.256T>C (p.Ser86Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001241362] Chr1:205058221 [GRCh38]
Chr1:205027349 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3089C>T (p.Ala1030Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001241410] Chr1:205073731 [GRCh38]
Chr1:205042859 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.488-5C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001468433] Chr1:205059079 [GRCh38]
Chr1:205028207 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.854C>T (p.Thr285Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001071269] Chr1:205061301 [GRCh38]
Chr1:205030429 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_005076.5(CNTN2):c.2886C>G (p.His962Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001038398] Chr1:205073109 [GRCh38]
Chr1:205042237 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001217695] Chr1:205073146 [GRCh38]
Chr1:205042274 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.731G>A (p.Arg244Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001052845]|not specified [RCV004031661] Chr1:205059616 [GRCh38]
Chr1:205028744 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.545G>A (p.Arg182His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001060698] Chr1:205059141 [GRCh38]
Chr1:205028269 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1028A>G (p.Asn343Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001061087] Chr1:205061919 [GRCh38]
Chr1:205031047 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001061200] Chr1:205073764 [GRCh38]
Chr1:205042892 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1414A>T (p.Thr472Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001212766] Chr1:205064645 [GRCh38]
Chr1:205033773 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2893G>A (p.Gly965Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001208657]|not specified [RCV004033737] Chr1:205073116 [GRCh38]
Chr1:205042244 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1425A>G (p.Ile475Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001228657] Chr1:205064656 [GRCh38]
Chr1:205033784 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1507C>G (p.Leu503Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001038209] Chr1:205064738 [GRCh38]
Chr1:205033866 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1739G>A (p.Arg580His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001059812] Chr1:205065832 [GRCh38]
Chr1:205034960 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2050C>T (p.Arg684Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001212924] Chr1:205067175 [GRCh38]
Chr1:205036303 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001871613]|not specified [RCV001280640] Chr1:205061387 [GRCh38]
Chr1:205030515 [GRCh37]
Chr1:1q32.1		 pathogenic|uncertain significance
NM_005076.5(CNTN2):c.1297G>T (p.Gly433Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV004799593] Chr1:205064378 [GRCh38]
Chr1:205033506 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.476C>T (p.Ala159Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001295187] Chr1:205058652 [GRCh38]
Chr1:205027780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2678G>A (p.Arg893Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001301367]|not specified [RCV004036201] Chr1:205072080 [GRCh38]
Chr1:205041208 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2365C>T (p.Arg789Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001309885] Chr1:205069995 [GRCh38]
Chr1:205039123 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3085G>A (p.Val1029Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001327009]|not provided [RCV004711571] Chr1:205073727 [GRCh38]
Chr1:205042855 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.3011G>A (p.Gly1004Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001325250] Chr1:205073234 [GRCh38]
Chr1:205042362 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1837G>A (p.Gly613Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001314358] Chr1:205066461 [GRCh38]
Chr1:205035589 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001330010] Chr1:205073206 [GRCh38]
Chr1:205042334 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.271G>A (p.Val91Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001325588] Chr1:205058236 [GRCh38]
Chr1:205027364 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2178G>C (p.Glu726Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001296285] Chr1:205069543 [GRCh38]
Chr1:205038671 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3013+5T>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001305825] Chr1:205073241 [GRCh38]
Chr1:205042369 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1071A>G (p.Thr357=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001317269] Chr1:205061962 [GRCh38]
Chr1:205031090 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1297G>A (p.Gly433Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001327351]|not specified [RCV004035238] Chr1:205064378 [GRCh38]
Chr1:205033506 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1708G>T (p.Gly570Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001316643] Chr1:205065801 [GRCh38]
Chr1:205034929 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3117G>C (p.Glu1039Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001359850] Chr1:205073759 [GRCh38]
Chr1:205042887 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1739G>T (p.Arg580Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001360361] Chr1:205065832 [GRCh38]
Chr1:205034960 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_005076.5(CNTN2):c.1695+7C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001392723] Chr1:205065269 [GRCh38]
Chr1:205034397 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.419G>A (p.Arg140Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001362118] Chr1:205058595 [GRCh38]
Chr1:205027723 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2119G>C (p.Glu707Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001325284] Chr1:205067244 [GRCh38]
Chr1:205036372 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2966C>T (p.Pro989Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001365031] Chr1:205073189 [GRCh38]
Chr1:205042317 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1142G>A (p.Arg381Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001365049] Chr1:205062471 [GRCh38]
Chr1:205031599 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.587G>A (p.Arg196Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001297276] Chr1:205059183 [GRCh38]
Chr1:205028311 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2668G>A (p.Ala890Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001370513] Chr1:205072070 [GRCh38]
Chr1:205041198 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2685C>T (p.Gly895=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001301921] Chr1:205072087 [GRCh38]
Chr1:205041215 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1033C>T (p.Arg345Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001368751]|not specified [RCV004037055] Chr1:205061924 [GRCh38]
Chr1:205031052 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.185G>A (p.Arg62His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001325706]|not specified [RCV004035175] Chr1:205058035 [GRCh38]
Chr1:205027163 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1856T>C (p.Ile619Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001302039] Chr1:205066480 [GRCh38]
Chr1:205035608 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1294C>T (p.Arg432Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001324877]|not specified [RCV004035141] Chr1:205064375 [GRCh38]
Chr1:205033503 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1676A>G (p.His559Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001346225] Chr1:205065243 [GRCh38]
Chr1:205034371 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2731+6T>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001347450] Chr1:205072139 [GRCh38]
Chr1:205041267 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3047G>A (p.Arg1016His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001307985]|not specified [RCV004034152] Chr1:205073689 [GRCh38]
Chr1:205042817 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1415C>A (p.Thr472Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001304379] Chr1:205064646 [GRCh38]
Chr1:205033774 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1315C>G (p.Pro439Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001345600] Chr1:205064396 [GRCh38]
Chr1:205033524 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1572C>A (p.Asp524Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001364502]|not specified [RCV004897679] Chr1:205065139 [GRCh38]
Chr1:205034267 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1238A>G (p.Gln413Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001306292] Chr1:205062567 [GRCh38]
Chr1:205031695 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2431+5G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001330009] Chr1:205070066 [GRCh38]
Chr1:205039194 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001336782] Chr1:205067236 [GRCh38]
Chr1:205036364 [GRCh37]
Chr1:1q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005076.5(CNTN2):c.2228G>C (p.Gly743Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001295636] Chr1:205069858 [GRCh38]
Chr1:205038986 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2713G>A (p.Ala905Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001305783] Chr1:205072115 [GRCh38]
Chr1:205041243 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1405C>T (p.Pro469Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001370419] Chr1:205064636 [GRCh38]
Chr1:205033764 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.786C>T (p.Phe262=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001499312] Chr1:205059671 [GRCh38]
Chr1:205028799 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.594T>C (p.Asn198=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001461018] Chr1:205059190 [GRCh38]
Chr1:205028318 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.486A>C (p.Pro162=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001522539]|not provided [RCV004714250] Chr1:205058662 [GRCh38]
Chr1:205027790 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.468C>T (p.Asn156=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001496104] Chr1:205058644 [GRCh38]
Chr1:205027772 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1758G>A (p.Thr586=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001490957] Chr1:205065851 [GRCh38]
Chr1:205034979 [GRCh37]
Chr1:1q32.1		 likely benign
NC_000001.10:g.(?_205034083)_205035624del deletion Epilepsy, familial adult myoclonic, 5 [RCV001378463]   likely pathogenic
NM_005076.5(CNTN2):c.912C>T (p.Tyr304=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001428391] Chr1:205061359 [GRCh38]
Chr1:205030487 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001402865]|not provided [RCV004711587] Chr1:205065848 [GRCh38]
Chr1:205034976 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1293C>T (p.Ala431=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001488616] Chr1:205064374 [GRCh38]
Chr1:205033502 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.867C>T (p.Pro289=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001506632] Chr1:205061314 [GRCh38]
Chr1:205030442 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2736G>A (p.Pro912=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001500731] Chr1:205072487 [GRCh38]
Chr1:205041615 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.576G>A (p.Leu192=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001493649] Chr1:205059172 [GRCh38]
Chr1:205028300 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.216-9C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001418392] Chr1:205058172 [GRCh38]
Chr1:205027300 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2154C>T (p.Ser718=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001399371] Chr1:205069519 [GRCh38]
Chr1:205038647 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1677C>T (p.His559=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001441011] Chr1:205065244 [GRCh38]
Chr1:205034372 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1728C>T (p.Asn576=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001443552] Chr1:205065821 [GRCh38]
Chr1:205034949 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.394C>T (p.Leu132=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001426279] Chr1:205058570 [GRCh38]
Chr1:205027698 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1053C>T (p.Ala351=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001423622] Chr1:205061944 [GRCh38]
Chr1:205031072 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.51G>A (p.Val17=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001410094] Chr1:205053236 [GRCh38]
Chr1:205022364 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1240+8G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001435994] Chr1:205062577 [GRCh38]
Chr1:205031705 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.318C>G (p.Ala106=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001417253] Chr1:205058283 [GRCh38]
Chr1:205027411 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001449283] Chr1:205070511 [GRCh38]
Chr1:205039639 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2280C>T (p.Thr760=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001436089] Chr1:205069910 [GRCh38]
Chr1:205039038 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3114G>A (p.Leu1038=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001407897] Chr1:205073756 [GRCh38]
Chr1:205042884 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001381853] Chr1:205071989 [GRCh38]
Chr1:205041117 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001406668] Chr1:205065121 [GRCh38]
Chr1:205034249 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1215C>T (p.Tyr405=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001411715] Chr1:205062544 [GRCh38]
Chr1:205031672 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3084C>T (p.Ser1028=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001427575] Chr1:205073726 [GRCh38]
Chr1:205042854 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001419976] Chr1:205067126 [GRCh38]
Chr1:205036254 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1368G>A (p.Thr456=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001495897] Chr1:205064449 [GRCh38]
Chr1:205033577 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3070G>A (p.Val1024Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001515783]|not provided [RCV004715451] Chr1:205073712 [GRCh38]
Chr1:205042840 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1111-4A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001458934] Chr1:205062436 [GRCh38]
Chr1:205031564 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.283C>T (p.Leu95=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001496429] Chr1:205058248 [GRCh38]
Chr1:205027376 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001497696] Chr1:205073741 [GRCh38]
Chr1:205042869 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2845-5C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001504811] Chr1:205073063 [GRCh38]
Chr1:205042191 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001464452] Chr1:205065145 [GRCh38]
Chr1:205034273 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=) single nucleotide variant CNTN2-related disorder [RCV003980390]|Epilepsy, familial adult myoclonic, 5 [RCV001471058] Chr1:205072586 [GRCh38]
Chr1:205041714 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001465975] Chr1:205073232 [GRCh38]
Chr1:205042360 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.657C>T (p.Ser219=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001456062] Chr1:205059253 [GRCh38]
Chr1:205028381 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2025C>A (p.Leu675=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001424080] Chr1:205067150 [GRCh38]
Chr1:205036278 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001432918] Chr1:205062502 [GRCh38]
Chr1:205031630 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.433G>A (p.Ala145Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001522165]|not provided [RCV004715470] Chr1:205058609 [GRCh38]
Chr1:205058609..205058610 [GRCh38]
Chr1:205027737 [GRCh37]
Chr1:205027737..205027738 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.2731+1G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001379477] Chr1:205072134 [GRCh38]
Chr1:205041262 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.2760C>T (p.Ser920=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001437328] Chr1:205072511 [GRCh38]
Chr1:205041639 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2628C>T (p.Ser876=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001518260]|not provided [RCV001796544] Chr1:205072030 [GRCh38]
Chr1:205072030..205072031 [GRCh38]
Chr1:205041158 [GRCh37]
Chr1:205041158..205041159 [GRCh37]
Chr1:1q32.1		 benign|uncertain significance
NM_005076.5(CNTN2):c.1288G>A (p.Ala430Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002001894] Chr1:205064369 [GRCh38]
Chr1:205033497 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.669G>C (p.Lys223Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001896699] Chr1:205059265 [GRCh38]
Chr1:205028393 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.478C>A (p.His160Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001914846] Chr1:205058654 [GRCh38]
Chr1:205027782 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2108T>A (p.Ile703Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001967776] Chr1:205067233 [GRCh38]
Chr1:205036361 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2449A>G (p.Thr817Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001873889] Chr1:205070443 [GRCh38]
Chr1:205039571 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.325T>G (p.Tyr109Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001927218] Chr1:205058290 [GRCh38]
Chr1:205027418 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.169G>A (p.Val57Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001929447]|not specified [RCV004044323] Chr1:205058019 [GRCh38]
Chr1:205027147 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2201T>C (p.Met734Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001929448]|not specified [RCV004044324] Chr1:205069831 [GRCh38]
Chr1:205038959 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2861A>G (p.Asp954Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001928107] Chr1:205073084 [GRCh38]
Chr1:205042212 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.885C>T (p.Ser295=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001873877] Chr1:205061332 [GRCh38]
Chr1:205030460 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1129G>T (p.Ala377Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001928547] Chr1:205062458 [GRCh38]
Chr1:205031586 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002052268] Chr1:205065792 [GRCh38]
Chr1:205034920 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.974-12G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001950496] Chr1:205061853 [GRCh38]
Chr1:205030981 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.298C>T (p.Pro100Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002041773] Chr1:205058263 [GRCh38]
Chr1:205027391 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1695+2T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001968931] Chr1:205065264 [GRCh38]
Chr1:205034392 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.49G>A (p.Val17Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001983433] Chr1:205053234 [GRCh38]
Chr1:205022362 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1481T>C (p.Met494Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001965629] Chr1:205064712 [GRCh38]
Chr1:205033840 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.835T>A (p.Ser279Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001985333] Chr1:205061282 [GRCh38]
Chr1:205030410 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1138C>G (p.Leu380Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002006708] Chr1:205062467 [GRCh38]
Chr1:205031595 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1050C>T (p.Ala350=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001982982] Chr1:205061941 [GRCh38]
Chr1:205031069 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2564G>A (p.Gly855Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001891834]|not specified [RCV004041141] Chr1:205071966 [GRCh38]
Chr1:205041094 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2902T>C (p.Trp968Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002021478] Chr1:205073125 [GRCh38]
Chr1:205042253 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3013+4C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001891960] Chr1:205073240 [GRCh38]
Chr1:205042368 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.208A>T (p.Thr70Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001967368] Chr1:205058058 [GRCh38]
Chr1:205027186 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2614A>C (p.Ser872Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001911332] Chr1:205072016 [GRCh38]
Chr1:205041144 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1240+1G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002005773] Chr1:205062570 [GRCh38]
Chr1:205031698 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.1647C>A (p.Phe549Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002007842] Chr1:205065214 [GRCh38]
Chr1:205034342 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1743T>G (p.His581Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001914340] Chr1:205065836 [GRCh38]
Chr1:205034964 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1076G>A (p.Arg359His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001984948] Chr1:205061967 [GRCh38]
Chr1:205031095 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.992A>T (p.Lys331Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002024084] Chr1:205061883 [GRCh38]
Chr1:205031011 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3013+6_3013+8del microsatellite Epilepsy, familial adult myoclonic, 5 [RCV001986166] Chr1:205073238..205073240 [GRCh38]
Chr1:205042366..205042368 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1642G>A (p.Asp548Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001927946] Chr1:205065209 [GRCh38]
Chr1:205034337 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2775C>G (p.Ser925Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001969650] Chr1:205072526 [GRCh38]
Chr1:205041654 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.134G>A (p.Ser45Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002020904] Chr1:205057984 [GRCh38]
Chr1:205027112 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs) duplication Epilepsy, familial adult myoclonic, 5 [RCV001946852] Chr1:205072097..205072098 [GRCh38]
Chr1:205041225..205041226 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.191G>A (p.Arg64Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001969738] Chr1:205058041 [GRCh38]
Chr1:205027169 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.859G>A (p.Ala287Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002024567] Chr1:205061306 [GRCh38]
Chr1:205030434 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.959G>A (p.Arg320His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001909390] Chr1:205061406 [GRCh38]
Chr1:205030534 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.619T>C (p.Cys207Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001893205] Chr1:205059215 [GRCh38]
Chr1:205028343 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.31C>G (p.Leu11Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001969516] Chr1:205053216 [GRCh38]
Chr1:205022344 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1519G>A (p.Asp507Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001983488] Chr1:205064750 [GRCh38]
Chr1:205033878 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2954G>A (p.Arg985Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001894489] Chr1:205073177 [GRCh38]
Chr1:205042305 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2149C>T (p.Leu717Phe) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002042021] Chr1:205069514 [GRCh38]
Chr1:205038642 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.215G>A (p.Arg72Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001892319] Chr1:205058065 [GRCh38]
Chr1:205027193 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1292C>G (p.Ala431Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001965569] Chr1:205064373 [GRCh38]
Chr1:205033501 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2773del (p.Ser925fs) deletion Epilepsy, familial adult myoclonic, 5 [RCV001932440] Chr1:205072523 [GRCh38]
Chr1:205041651 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.1787C>T (p.Ala596Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001954512] Chr1:205065880 [GRCh38]
Chr1:205035008 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001900680] Chr1:205071991 [GRCh38]
Chr1:205041119 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2386G>A (p.Asp796Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001944269] Chr1:205070016 [GRCh38]
Chr1:205039144 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1976-7C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002038951] Chr1:205067094 [GRCh38]
Chr1:205036222 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2126-1G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002048432] Chr1:205069490 [GRCh38]
Chr1:205038618 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.736C>A (p.Pro246Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001992783] Chr1:205059621 [GRCh38]
Chr1:205028749 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1949C>T (p.Ala650Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001919597] Chr1:205066573 [GRCh38]
Chr1:205035701 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1814G>A (p.Arg605Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001935522] Chr1:205065907 [GRCh38]
Chr1:205035035 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1567G>A (p.Gly523Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001887816] Chr1:205065134 [GRCh38]
Chr1:205034262 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2044G>C (p.Glu682Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002038248] Chr1:205067169 [GRCh38]
Chr1:205036297 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2731+19G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001888692] Chr1:205072152 [GRCh38]
Chr1:205041280 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2933G>C (p.Gly978Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001884643] Chr1:205073156 [GRCh38]
Chr1:205042284 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3110C>T (p.Ser1037Phe) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001962071] Chr1:205073752 [GRCh38]
Chr1:205042880 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001941523] Chr1:205062545 [GRCh38]
Chr1:205031673 [GRCh37]
Chr1:1q32.1		 likely benign|conflicting interpretations of pathogenicity
NM_005076.5(CNTN2):c.1302A>T (p.Gly434=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002000633] Chr1:205064383 [GRCh38]
Chr1:205033511 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1655A>G (p.Asp552Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001887954]|not specified [RCV004039011] Chr1:205065222 [GRCh38]
Chr1:205034350 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1018A>G (p.Ile340Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001905306] Chr1:205061909 [GRCh38]
Chr1:205031037 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1888C>A (p.Arg630Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001963652] Chr1:205066512 [GRCh38]
Chr1:205035640 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.351G>A (p.Val117=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001954220] Chr1:205058316 [GRCh38]
Chr1:205027444 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1324C>A (p.Pro442Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001898047] Chr1:205064405 [GRCh38]
Chr1:205033533 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.584C>T (p.Ala195Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002032109] Chr1:205059180 [GRCh38]
Chr1:205028308 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3123A>G (p.Ter1041Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001932594] Chr1:205073765 [GRCh38]
Chr1:205042893 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1913T>C (p.Ile638Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001876736] Chr1:205066537 [GRCh38]
Chr1:205035665 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.730C>T (p.Arg244Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001877963]|not provided [RCV004691459] Chr1:205059615 [GRCh38]
Chr1:205028743 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1222G>A (p.Ala408Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001990367] Chr1:205062551 [GRCh38]
Chr1:205031679 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1936C>T (p.Arg646Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001932917]|not specified [RCV004897700] Chr1:205066560 [GRCh38]
Chr1:205035688 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001915884] Chr1:205062509 [GRCh38]
Chr1:205031637 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.2336G>A (p.Arg779Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001936091] Chr1:205069966 [GRCh38]
Chr1:205039094 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2717C>T (p.Thr906Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001902827] Chr1:205072119 [GRCh38]
Chr1:205041247 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1840G>T (p.Val614Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002029049] Chr1:205066464 [GRCh38]
Chr1:205035592 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2735C>T (p.Pro912Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001955404] Chr1:205072486 [GRCh38]
Chr1:205041614 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1241C>T (p.Ala414Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001877166] Chr1:205064322 [GRCh38]
Chr1:205033450 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.723C>G (p.Ile241Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001954224]|not specified [RCV004044462] Chr1:205059608 [GRCh38]
Chr1:205028736 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2752A>G (p.Asn918Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001882182] Chr1:205072503 [GRCh38]
Chr1:205041631 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.337G>C (p.Ala113Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001924474] Chr1:205058302 [GRCh38]
Chr1:205027430 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2140C>T (p.Pro714Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001906324] Chr1:205069505 [GRCh38]
Chr1:205038633 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2356G>T (p.Val786Phe) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002036719] Chr1:205069986 [GRCh38]
Chr1:205039114 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.958C>T (p.Arg320Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001899333]|not specified [RCV004611926] Chr1:205061405 [GRCh38]
Chr1:205030533 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2196G>T (p.Thr732=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001990007] Chr1:205069561 [GRCh38]
Chr1:205038689 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.553G>A (p.Val185Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001940938] Chr1:205059149 [GRCh38]
Chr1:205028277 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1921T>A (p.Tyr641Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002011987] Chr1:205066545 [GRCh38]
Chr1:205035673 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001924037] Chr1:205072491 [GRCh38]
Chr1:205041619 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.2299G>A (p.Asp767Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001884565] Chr1:205069929 [GRCh38]
Chr1:205039057 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2701C>T (p.Pro901Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001992686] Chr1:205072103 [GRCh38]
Chr1:205041231 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2655T>G (p.His885Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001975670] Chr1:205072057 [GRCh38]
Chr1:205041185 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2110C>T (p.Arg704Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002017281] Chr1:205067235 [GRCh38]
Chr1:205036363 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1147T>C (p.Ser383Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001917121] Chr1:205062476 [GRCh38]
Chr1:205031604 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.500G>A (p.Arg167His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001931779] Chr1:205059096 [GRCh38]
Chr1:205028224 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.808C>T (p.Arg270Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002050103] Chr1:205061255 [GRCh38]
Chr1:205030383 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2126C>G (p.Ala709Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001906132] Chr1:205069491 [GRCh38]
Chr1:205038619 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1397C>T (p.Thr466Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001972232] Chr1:205064628 [GRCh38]
Chr1:205033756 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3117G>T (p.Glu1039Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001865178] Chr1:205073759 [GRCh38]
Chr1:205042887 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.427G>T (p.Val143Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002051516] Chr1:205058603 [GRCh38]
Chr1:205027731 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.388G>A (p.Gly130Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001976421]|not specified [RCV004042297] Chr1:205058353 [GRCh38]
Chr1:205027481 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.479A>T (p.His160Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001933558] Chr1:205058655 [GRCh38]
Chr1:205027783 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1790C>T (p.Ser597Phe) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001979575] Chr1:205065883 [GRCh38]
Chr1:205035011 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.654G>C (p.Lys218Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001996420] Chr1:205059250 [GRCh38]
Chr1:205028378 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1331C>T (p.Ala444Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001940308] Chr1:205064412 [GRCh38]
Chr1:205033540 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.923C>T (p.Ala308Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001940781] Chr1:205061370 [GRCh38]
Chr1:205030498 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1316C>A (p.Pro439His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001960003] Chr1:205064397 [GRCh38]
Chr1:205033525 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2474C>T (p.Ser825Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001924672] Chr1:205070468 [GRCh38]
Chr1:205039596 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1523C>G (p.Ala508Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001937138] Chr1:205065090 [GRCh38]
Chr1:205034218 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1174A>G (p.Met392Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001973930] Chr1:205062503 [GRCh38]
Chr1:205031631 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1751A>G (p.Lys584Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001881043] Chr1:205065844 [GRCh38]
Chr1:205034972 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1785C>T (p.Ser595=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001952940] Chr1:205065878 [GRCh38]
Chr1:205035006 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.1937G>A (p.Arg646His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001933185] Chr1:205066561 [GRCh38]
Chr1:205035689 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1192G>C (p.Glu398Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001934286] Chr1:205062521 [GRCh38]
Chr1:205031649 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1007C>T (p.Thr336Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001870571] Chr1:205061898 [GRCh38]
Chr1:205031026 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2944G>A (p.Val982Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001916873] Chr1:205073167 [GRCh38]
Chr1:205042295 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.658G>A (p.Val220Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001990167] Chr1:205059254 [GRCh38]
Chr1:205028382 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1226A>T (p.Glu409Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001880427] Chr1:205062555 [GRCh38]
Chr1:205031683 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.740C>G (p.Ala247Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002026552] Chr1:205059625 [GRCh38]
Chr1:205028753 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1345G>A (p.Val449Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001903283]|not specified [RCV004041616] Chr1:205064426 [GRCh38]
Chr1:205033554 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2431+4G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV001867458] Chr1:205070065 [GRCh38]
Chr1:205039193 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.70+16T>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002071467] Chr1:205053271 [GRCh38]
Chr1:205022399 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.697+20G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002207351] Chr1:205059313 [GRCh38]
Chr1:205028441 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.71-19G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002110465] Chr1:205057902 [GRCh38]
Chr1:205027030 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1233C>T (p.Ala411=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002075660] Chr1:205062562 [GRCh38]
Chr1:205031690 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1608C>T (p.Pro536=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002189519] Chr1:205065175 [GRCh38]
Chr1:205034303 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.215+12G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002110284] Chr1:205058077 [GRCh38]
Chr1:205027205 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3087G>C (p.Val1029=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002075843] Chr1:205073729 [GRCh38]
Chr1:205042857 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1816+15A>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002084877] Chr1:205065924 [GRCh38]
Chr1:205035052 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.703C>T (p.Arg235Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002107537]|not specified [RCV004045854] Chr1:205059588 [GRCh38]
Chr1:205028716 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.974-4A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002089738] Chr1:205061861 [GRCh38]
Chr1:205030989 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2731+16T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002111233] Chr1:205072149 [GRCh38]
Chr1:205041277 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.831C>T (p.Asp277=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002130109] Chr1:205061278 [GRCh38]
Chr1:205030406 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1519+7G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002166403] Chr1:205064757 [GRCh38]
Chr1:205033885 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2431+20C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002129833]|not provided [RCV004715601] Chr1:205070081 [GRCh38]
Chr1:205039209 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1110+19C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002206003] Chr1:205062020 [GRCh38]
Chr1:205031148 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+7C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002207606] Chr1:205064479 [GRCh38]
Chr1:205033607 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2490C>T (p.Asn830=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002106077] Chr1:205070484 [GRCh38]
Chr1:205039612 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.198C>T (p.Ser66=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002188361] Chr1:205058048 [GRCh38]
Chr1:205027176 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002072774] Chr1:205062466 [GRCh38]
Chr1:205031594 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.534G>C (p.Pro178=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002187334] Chr1:205059130 [GRCh38]
Chr1:205028258 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.555G>C (p.Val185=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002191539] Chr1:205059151 [GRCh38]
Chr1:205028279 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.261T>C (p.Arg87=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002169749] Chr1:205058226 [GRCh38]
Chr1:205027354 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002172533] Chr1:205072535 [GRCh38]
Chr1:205041663 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2545-20G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002172562] Chr1:205071927 [GRCh38]
Chr1:205041055 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.392-19C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002209391] Chr1:205058549 [GRCh38]
Chr1:205027677 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.697+18G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002174237]|not provided [RCV004711886] Chr1:205059311 [GRCh38]
Chr1:205028439 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.797+16dup duplication Epilepsy, familial adult myoclonic, 5 [RCV002152469] Chr1:205059695..205059696 [GRCh38]
Chr1:205028823..205028824 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.3013+14C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002192913] Chr1:205073250 [GRCh38]
Chr1:205042378 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2196+7T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002093638] Chr1:205069568 [GRCh38]
Chr1:205038696 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002115001] Chr1:205070042 [GRCh38]
Chr1:205039170 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2661C>T (p.Thr887=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002171008] Chr1:205072063 [GRCh38]
Chr1:205041191 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2544+15G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002171636] Chr1:205070553 [GRCh38]
Chr1:205039681 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3072C>T (p.Val1024=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002166025] Chr1:205073714 [GRCh38]
Chr1:205042842 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2432-8G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002151283] Chr1:205070418 [GRCh38]
Chr1:205039546 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2432-6C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002195795] Chr1:205070420 [GRCh38]
Chr1:205039548 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.974-12G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002193142] Chr1:205061853 [GRCh38]
Chr1:205030981 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2649G>A (p.Lys883=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002128189] Chr1:205072051 [GRCh38]
Chr1:205041179 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.690T>C (p.Ala230=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002080804] Chr1:205059286 [GRCh38]
Chr1:205028414 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.391+13G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002206915] Chr1:205058369 [GRCh38]
Chr1:205027497 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1773G>A (p.Thr591=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002111963] Chr1:205065866 [GRCh38]
Chr1:205034994 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1071A>T (p.Thr357=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002150544] Chr1:205061962 [GRCh38]
Chr1:205031090 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.238A>G (p.Met80Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002216321] Chr1:205058203 [GRCh38]
Chr1:205027331 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+14C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002173179] Chr1:205064486 [GRCh38]
Chr1:205033614 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-11C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002080624] Chr1:205062429 [GRCh38]
Chr1:205031557 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1788G>A (p.Ala596=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002149152] Chr1:205065881 [GRCh38]
Chr1:205035009 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1738C>T (p.Arg580Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002089892] Chr1:205065831 [GRCh38]
Chr1:205034959 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002196677] Chr1:205065109 [GRCh38]
Chr1:205034237 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.528C>T (p.Phe176=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002105613] Chr1:205059124 [GRCh38]
Chr1:205028252 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1976-14C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002170609] Chr1:205067087 [GRCh38]
Chr1:205036215 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1975+10A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002213376] Chr1:205066609 [GRCh38]
Chr1:205035737 [GRCh37]
Chr1:1q32.1		 likely benign|conflicting interpretations of pathogenicity
NM_005076.5(CNTN2):c.2431+12C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002130949] Chr1:205070073 [GRCh38]
Chr1:205039201 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1002G>A (p.Ser334=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002115435] Chr1:205061893 [GRCh38]
Chr1:205031021 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002173215] Chr1:205067204 [GRCh38]
Chr1:205036332 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002149726] Chr1:205066496 [GRCh38]
Chr1:205035624 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.71-7C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002189433] Chr1:205057914 [GRCh38]
Chr1:205027042 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002115087] Chr1:205066589 [GRCh38]
Chr1:205035717 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+13C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002114398] Chr1:205064485 [GRCh38]
Chr1:205033613 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2844+11A>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002117462] Chr1:205072606 [GRCh38]
Chr1:205041734 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002197859] Chr1:205065163 [GRCh38]
Chr1:205034291 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1976-15C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002159817] Chr1:205067086 [GRCh38]
Chr1:205036214 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1035T>C (p.Arg345=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002119688] Chr1:205061926 [GRCh38]
Chr1:205031054 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.487+20C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002123842] Chr1:205058683 [GRCh38]
Chr1:205027811 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.123C>T (p.Asp41=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002138323] Chr1:205057973 [GRCh38]
Chr1:205027101 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2545-12C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002122408] Chr1:205071935 [GRCh38]
Chr1:205041063 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.488-17A>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002099109] Chr1:205059067 [GRCh38]
Chr1:205028195 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2545-20G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002120759] Chr1:205071927 [GRCh38]
Chr1:205041055 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2125+10C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002138548] Chr1:205067260 [GRCh38]
Chr1:205036388 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1520-14G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002118811] Chr1:205065073 [GRCh38]
Chr1:205034201 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.391+11C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002178317] Chr1:205058367 [GRCh38]
Chr1:205027495 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+15C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002158908] Chr1:205064487 [GRCh38]
Chr1:205033615 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2232C>T (p.Phe744=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002144403] Chr1:205069862 [GRCh38]
Chr1:205038990 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2126-16C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002144474] Chr1:205069475 [GRCh38]
Chr1:205038603 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.973+13G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002199776] Chr1:205061433 [GRCh38]
Chr1:205030561 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2845-12T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002100065]|not provided [RCV004715592] Chr1:205073056 [GRCh38]
Chr1:205042184 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.2126-16C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002216922] Chr1:205069475 [GRCh38]
Chr1:205038603 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.697+18G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002137695]|not provided [RCV004715610] Chr1:205059311 [GRCh38]
Chr1:205028439 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.216-15T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002118265] Chr1:205058166 [GRCh38]
Chr1:205027294 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-11C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002120433] Chr1:205062429 [GRCh38]
Chr1:205031557 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.543G>C (p.Gly181=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002142287] Chr1:205059139 [GRCh38]
Chr1:205028267 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.948C>A (p.Thr316=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002142375] Chr1:205061395 [GRCh38]
Chr1:205030523 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.391+9C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002160742] Chr1:205058365 [GRCh38]
Chr1:205027493 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1347G>A (p.Val449=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002162694] Chr1:205064428 [GRCh38]
Chr1:205033556 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1975+7G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002099802] Chr1:205066606 [GRCh38]
Chr1:205035734 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002201776] Chr1:205066502 [GRCh38]
Chr1:205035630 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.534G>A (p.Pro178=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002140896] Chr1:205059130 [GRCh38]
Chr1:205028258 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.762G>C (p.Gly254=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002184720] Chr1:205059647 [GRCh38]
Chr1:205028775 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.392-14G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002123436] Chr1:205058554 [GRCh38]
Chr1:205027682 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.618C>G (p.Ser206=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002154760] Chr1:205059214 [GRCh38]
Chr1:205028342 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002161776] Chr1:205066550 [GRCh38]
Chr1:205035678 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.699T>C (p.Asp233=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002161991] Chr1:205059584 [GRCh38]
Chr1:205028712 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2505C>T (p.Pro835=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002101087] Chr1:205070499 [GRCh38]
Chr1:205039627 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2545-16C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002183526] Chr1:205071931 [GRCh38]
Chr1:205041059 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2432-12A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002162324] Chr1:205070414 [GRCh38]
Chr1:205039542 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2125+8T>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002136762] Chr1:205067258 [GRCh38]
Chr1:205036386 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1240+18G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002099990] Chr1:205062587 [GRCh38]
Chr1:205031715 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.71-19G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002159567] Chr1:205057902 [GRCh38]
Chr1:205027030 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1110+10A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002217701] Chr1:205062011 [GRCh38]
Chr1:205031139 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1520-17C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002181582] Chr1:205065070 [GRCh38]
Chr1:205034198 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.843C>T (p.Ser281=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002180184] Chr1:205061290 [GRCh38]
Chr1:205030418 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.71-6C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002204646] Chr1:205057915 [GRCh38]
Chr1:205027043 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.391+12G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002163255]|not provided [RCV004714383] Chr1:205058368 [GRCh38]
Chr1:205027496 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NC_000001.10:g.(?_205022314)_(205042893_?)del deletion Epilepsy, familial adult myoclonic, 5 [RCV003116305] Chr1:205022314..205042893 [GRCh37]
Chr1:1q32.1		 pathogenic
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.855C>A (p.Thr285=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003115389] Chr1:205061302 [GRCh38]
Chr1:205030430 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.974-13C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003112017] Chr1:205061852 [GRCh38]
Chr1:205030980 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003113186]|not specified [RCV004245946] Chr1:205061892 [GRCh38]
Chr1:205031020 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.798C>T (p.Asn266=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003112036] Chr1:205061245 [GRCh38]
Chr1:205030373 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1519+5G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003112670] Chr1:205064755 [GRCh38]
Chr1:205033883 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
NM_005076.5(CNTN2):c.1748_1749delinsC (p.Gly583fs) indel not provided [RCV003325338] Chr1:205065841..205065842 [GRCh38]
Chr1:205034969..205034970 [GRCh37]
Chr1:1q32.1		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_005076.5(CNTN2):c.240G>A (p.Met80Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002302909] Chr1:205058205 [GRCh38]
Chr1:205027333 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3039G>A (p.Met1013Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002304681] Chr1:205073681 [GRCh38]
Chr1:205042809 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1359C>G (p.Ser453Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002302893] Chr1:205064440 [GRCh38]
Chr1:205033568 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.967G>C (p.Val323Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002301271] Chr1:205061414 [GRCh38]
Chr1:205030542 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002838785] Chr1:205069979 [GRCh38]
Chr1:205039107 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2136G>A (p.Val712=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002971168] Chr1:205069501 [GRCh38]
Chr1:205038629 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.70+8G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002861838] Chr1:205053263 [GRCh38]
Chr1:205022391 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1526C>T (p.Thr509Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002881152] Chr1:205065093 [GRCh38]
Chr1:205034221 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1724T>A (p.Leu575Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003012261] Chr1:205065817 [GRCh38]
Chr1:205034945 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2125+12G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002819096] Chr1:205067262 [GRCh38]
Chr1:205036390 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1286C>T (p.Pro429Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003017244] Chr1:205064367 [GRCh38]
Chr1:205033495 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2302G>C (p.Ala768Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002996491] Chr1:205069932 [GRCh38]
Chr1:205039060 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.487+12C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002882333] Chr1:205058675 [GRCh38]
Chr1:205027803 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.862G>A (p.Glu288Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003034632] Chr1:205061309 [GRCh38]
Chr1:205030437 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1964A>G (p.Gln655Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002780139] Chr1:205066588 [GRCh38]
Chr1:205035716 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2509C>A (p.Gln837Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003012472] Chr1:205070503 [GRCh38]
Chr1:205039631 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.216-18C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002947232] Chr1:205058163 [GRCh38]
Chr1:205027291 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_005076.5(CNTN2):c.2548C>T (p.Arg850Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002615046] Chr1:205071950 [GRCh38]
Chr1:205041078 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.274G>C (p.Gly92Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002904012] Chr1:205058239 [GRCh38]
Chr1:205027367 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002615431] Chr1:205064350 [GRCh38]
Chr1:205033478 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.215+6G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003074702] Chr1:205058071 [GRCh38]
Chr1:205027199 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1241-14C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003034197] Chr1:205064308 [GRCh38]
Chr1:205033436 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002819610] Chr1:205067177 [GRCh38]
Chr1:205036305 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2660C>T (p.Thr887Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003013624] Chr1:205072062 [GRCh38]
Chr1:205041190 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1111-14G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002996744] Chr1:205062426 [GRCh38]
Chr1:205031554 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1063C>T (p.Arg355Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002731251] Chr1:205061954 [GRCh38]
Chr1:205031082 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1693G>A (p.Val565Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002996059] Chr1:205065260 [GRCh38]
Chr1:205034388 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.487+20C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003075484] Chr1:205058683 [GRCh38]
Chr1:205027811 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-14del deletion Epilepsy, familial adult myoclonic, 5 [RCV002755222] Chr1:205062424 [GRCh38]
Chr1:205031552 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2185G>A (p.Val729Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002639842] Chr1:205069550 [GRCh38]
Chr1:205038678 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003053558] Chr1:205072586 [GRCh38]
Chr1:205041714 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2274G>T (p.Trp758Cys) single nucleotide variant not specified [RCV004187930] Chr1:205069904 [GRCh38]
Chr1:205039032 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.306G>A (p.Lys102=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002889784] Chr1:205058271 [GRCh38]
Chr1:205027399 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2491G>A (p.Val831Met) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002927571] Chr1:205070485 [GRCh38]
Chr1:205039613 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.832G>A (p.Gly278Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002636963]|not specified [RCV004614379] Chr1:205061279 [GRCh38]
Chr1:205030407 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.85C>G (p.Leu29Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002570901] Chr1:205057935 [GRCh38]
Chr1:205027063 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1629C>G (p.Thr543=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002927810] Chr1:205065196 [GRCh38]
Chr1:205034324 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1746G>C (p.Gly582=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002658614] Chr1:205065839 [GRCh38]
Chr1:205034967 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002785794] Chr1:205073684 [GRCh38]
Chr1:205042812 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.886G>C (p.Val296Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003002999] Chr1:205061333 [GRCh38]
Chr1:205030461 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1942C>G (p.Pro648Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002695967] Chr1:205066566 [GRCh38]
Chr1:205035694 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.698-13C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002914100] Chr1:205059570 [GRCh38]
Chr1:205028698 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2040C>G (p.Asp680Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002976237] Chr1:205067165 [GRCh38]
Chr1:205036293 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3094C>G (p.Leu1032Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002796282] Chr1:205073736 [GRCh38]
Chr1:205042864 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1816+13C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002867884] Chr1:205065922 [GRCh38]
Chr1:205035050 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.135T>C (p.Ser45=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002866808] Chr1:205057985 [GRCh38]
Chr1:205027113 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.8C>A (p.Thr3Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002923785] Chr1:205053193 [GRCh38]
Chr1:205022321 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1975+15C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002949181] Chr1:205066614 [GRCh38]
Chr1:205035742 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.317C>G (p.Ala106Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002923515] Chr1:205058282 [GRCh38]
Chr1:205027410 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2577A>G (p.Ala859=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002637967]|not provided [RCV003886601] Chr1:205071979 [GRCh38]
Chr1:205041107 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1919A>C (p.Lys640Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002796027] Chr1:205066543 [GRCh38]
Chr1:205035671 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.533C>T (p.Pro178Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002592724] Chr1:205059129 [GRCh38]
Chr1:205028257 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2926G>A (p.Asp976Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002976306]|not specified [RCV004065055] Chr1:205073149 [GRCh38]
Chr1:205042277 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1494C>G (p.Asn498Lys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003021553] Chr1:205064725 [GRCh38]
Chr1:205033853 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2207G>A (p.Arg736Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002933531]|not specified [RCV004067179] Chr1:205069837 [GRCh38]
Chr1:205038965 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1735C>G (p.Leu579Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002843935] Chr1:205065828 [GRCh38]
Chr1:205034956 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1268C>T (p.Pro423Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002569653] Chr1:205064349 [GRCh38]
Chr1:205033477 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3014-17G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003078199] Chr1:205073639 [GRCh38]
Chr1:205042767 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.537G>A (p.Thr179=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003080147] Chr1:205059133 [GRCh38]
Chr1:205028261 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2431+18_2431+19insA insertion Epilepsy, familial adult myoclonic, 5 [RCV002867266] Chr1:205070079..205070080 [GRCh38]
Chr1:205039207..205039208 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2721C>T (p.Thr907=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003018259] Chr1:205072123 [GRCh38]
Chr1:205041251 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.797+18G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003053370] Chr1:205059700 [GRCh38]
Chr1:205028828 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.57T>C (p.Leu19=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002781489] Chr1:205053242 [GRCh38]
Chr1:205022370 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3081C>T (p.His1027=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002638589] Chr1:205073723 [GRCh38]
Chr1:205042851 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.69A>G (p.Ser23=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002690560] Chr1:205053254 [GRCh38]
Chr1:205022382 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.540C>T (p.Asp180=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003079321] Chr1:205059136 [GRCh38]
Chr1:205028264 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2540A>G (p.Tyr847Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002828778] Chr1:205070534 [GRCh38]
Chr1:205039662 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.190C>T (p.Arg64Trp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002791498] Chr1:205058040 [GRCh38]
Chr1:205027168 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.391+18C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002876180] Chr1:205058374 [GRCh38]
Chr1:205027502 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1682G>A (p.Arg561Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002597224] Chr1:205065249 [GRCh38]
Chr1:205034377 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002667041] Chr1:205058594 [GRCh38]
Chr1:205027722 [GRCh37]
Chr1:1q32.1		 pathogenic|conflicting interpretations of pathogenicity
NM_005076.5(CNTN2):c.1291G>A (p.Ala431Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003084235] Chr1:205064372 [GRCh38]
Chr1:205033500 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.797+14G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002830175] Chr1:205059696 [GRCh38]
Chr1:205028824 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.934A>G (p.Lys312Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003040648] Chr1:205061381 [GRCh38]
Chr1:205030509 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.849G>C (p.Gln283His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003056866]|not specified [RCV004070244] Chr1:205061296 [GRCh38]
Chr1:205030424 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1829C>T (p.Pro610Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003026138] Chr1:205066453 [GRCh38]
Chr1:205035581 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1377G>A (p.Leu459=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003023280] Chr1:205064458 [GRCh38]
Chr1:205033586 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-5C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003056925] Chr1:205062435 [GRCh38]
Chr1:205031563 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.215G>C (p.Arg72Pro) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002765777] Chr1:205058065 [GRCh38]
Chr1:205027193 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1299G>C (p.Gly433=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002914902] Chr1:205064380 [GRCh38]
Chr1:205033508 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.260G>A (p.Arg87His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002872802]|not specified [RCV004065972] Chr1:205058225 [GRCh38]
Chr1:205027353 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3013+17A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003083688] Chr1:205073253 [GRCh38]
Chr1:205042381 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1072G>T (p.Val358Leu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002851321] Chr1:205061963 [GRCh38]
Chr1:205031091 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.187G>A (p.Ala63Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003082238] Chr1:205058037 [GRCh38]
Chr1:205027165 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003083030] Chr1:205064689 [GRCh38]
Chr1:205033817 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1817-14A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002894613] Chr1:205066427 [GRCh38]
Chr1:205035555 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1516C>G (p.Arg506Gly) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003007259] Chr1:205064747 [GRCh38]
Chr1:205033875 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1613T>C (p.Met538Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002932629] Chr1:205065180 [GRCh38]
Chr1:205034308 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1907G>A (p.Ser636Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002851390] Chr1:205066531 [GRCh38]
Chr1:205035659 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2737C>T (p.Arg913Trp) single nucleotide variant not specified [RCV004099648] Chr1:205072488 [GRCh38]
Chr1:205041616 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1680C>T (p.Tyr560=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002741571] Chr1:205065247 [GRCh38]
Chr1:205034375 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2197-2A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003006021] Chr1:205069825 [GRCh38]
Chr1:205038953 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.1575C>T (p.Asn525=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003039793] Chr1:205065142 [GRCh38]
Chr1:205034270 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_005076.5(CNTN2):c.2285G>A (p.Arg762Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002918005] Chr1:205069915 [GRCh38]
Chr1:205039043 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002575016] Chr1:205072529 [GRCh38]
Chr1:205041657 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003007453] Chr1:205064389 [GRCh38]
Chr1:205033517 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2750G>C (p.Gly917Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003023922] Chr1:205072501 [GRCh38]
Chr1:205041629 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1519+3G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002766673] Chr1:205064753 [GRCh38]
Chr1:205033881 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.188C>A (p.Ala63Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003006197] Chr1:205058038 [GRCh38]
Chr1:205027166 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.797+15G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002745339] Chr1:205059697 [GRCh38]
Chr1:205028825 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.954G>C (p.Gln318His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002957740] Chr1:205061401 [GRCh38]
Chr1:205030529 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.744G>A (p.Glu248=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002623645] Chr1:205059629 [GRCh38]
Chr1:205028757 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+5C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002853150] Chr1:205064477 [GRCh38]
Chr1:205033605 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1798G>A (p.Ala600Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003084148] Chr1:205065891 [GRCh38]
Chr1:205035019 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2515G>A (p.Asp839Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002894323] Chr1:205070509 [GRCh38]
Chr1:205039637 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1392-5C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003042861] Chr1:205064618 [GRCh38]
Chr1:205033746 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.172T>C (p.Leu58=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003041088] Chr1:205058022 [GRCh38]
Chr1:205027150 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3014-13G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003084798] Chr1:205073643 [GRCh38]
Chr1:205042771 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2905A>G (p.Ile969Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003030656] Chr1:205073128 [GRCh38]
Chr1:205042256 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2696C>A (p.Ala899Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002602630] Chr1:205072098 [GRCh38]
Chr1:205041226 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1848G>A (p.Val616=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002811511] Chr1:205066472 [GRCh38]
Chr1:205035600 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1987A>G (p.Ile663Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003061938] Chr1:205067112 [GRCh38]
Chr1:205036240 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1203C>T (p.His401=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002582003] Chr1:205062532 [GRCh38]
Chr1:205031660 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2645C>T (p.Thr882Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002811824] Chr1:205072047 [GRCh38]
Chr1:205041175 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1294C>A (p.Arg432Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002651257] Chr1:205064375 [GRCh38]
Chr1:205033503 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2544+1G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003047684] Chr1:205070539 [GRCh38]
Chr1:205039667 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.2445C>G (p.Ala815=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002835151] Chr1:205070439 [GRCh38]
Chr1:205039567 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1609A>G (p.Thr537Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003090527] Chr1:205065176 [GRCh38]
Chr1:205034304 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2032T>G (p.Trp678Gly) single nucleotide variant not specified [RCV004166985] Chr1:205067157 [GRCh38]
Chr1:205036285 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002937974] Chr1:205069549 [GRCh38]
Chr1:205038677 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2845-3C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002628593] Chr1:205073065 [GRCh38]
Chr1:205042193 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1392-20C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003044755] Chr1:205064603 [GRCh38]
Chr1:205033731 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.885C>A (p.Ser295Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002833553] Chr1:205061332 [GRCh38]
Chr1:205030460 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1976A>T (p.Asn659Ile) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003063406] Chr1:205067101 [GRCh38]
Chr1:205036229 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.3013+1G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002898696] Chr1:205073237 [GRCh38]
Chr1:205042365 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.809G>A (p.Arg270Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002629874] Chr1:205061256 [GRCh38]
Chr1:205030384 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1989C>A (p.Ile663=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002857776] Chr1:205067114 [GRCh38]
Chr1:205036242 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1870A>G (p.Ile624Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003027978] Chr1:205066494 [GRCh38]
Chr1:205035622 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002832957] Chr1:205067189 [GRCh38]
Chr1:205036317 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2281G>A (p.Ala761Thr) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002717236] Chr1:205069911 [GRCh38]
Chr1:205039039 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002628117] Chr1:205069558 [GRCh38]
Chr1:205038686 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.910T>C (p.Tyr304His) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003028933] Chr1:205061357 [GRCh38]
Chr1:205030485 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1420A>G (p.Ile474Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002629711]|not specified [RCV004072085] Chr1:205064651 [GRCh38]
Chr1:205033779 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.835T>C (p.Ser279Pro) single nucleotide variant not specified [RCV004137632] Chr1:205061282 [GRCh38]
Chr1:205030410 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1064G>A (p.Arg355Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003065361] Chr1:205061955 [GRCh38]
Chr1:205031083 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1638G>A (p.Leu546=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002810582] Chr1:205065205 [GRCh38]
Chr1:205034333 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.179C>T (p.Ala60Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003044874] Chr1:205058029 [GRCh38]
Chr1:205027157 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1519+15G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002810162] Chr1:205064765 [GRCh38]
Chr1:205033893 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.308C>T (p.Ala103Val) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002792151] Chr1:205058273 [GRCh38]
Chr1:205027401 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003045952] Chr1:205061298 [GRCh38]
Chr1:205030426 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.1083G>A (p.Leu361=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002605299] Chr1:205061974 [GRCh38]
Chr1:205031102 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.591C>A (p.Thr197=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003067624] Chr1:205059187 [GRCh38]
Chr1:205028315 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2834C>A (p.Thr945Asn) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002654730] Chr1:205072585 [GRCh38]
Chr1:205041713 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.697+11G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003072802] Chr1:205059304 [GRCh38]
Chr1:205028432 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2131T>G (p.Ser711Ala) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003051947] Chr1:205069496 [GRCh38]
Chr1:205038624 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003052541] Chr1:205065112 [GRCh38]
Chr1:205034240 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3046C>T (p.Arg1016Cys) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003073227] Chr1:205073688 [GRCh38]
Chr1:205042816 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002583869] Chr1:205073115 [GRCh38]
Chr1:205042243 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2673C>T (p.Tyr891=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003050046] Chr1:205072075 [GRCh38]
Chr1:205041203 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.488-4C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV002603577] Chr1:205059080 [GRCh38]
Chr1:205028208 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1483G>A (p.Gly495Ser) single nucleotide variant not specified [RCV004267849] Chr1:205064714 [GRCh38]
Chr1:205033842 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1327C>T (p.Arg443Trp) single nucleotide variant not specified [RCV004268188] Chr1:205064408 [GRCh38]
Chr1:205033536 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1802C>T (p.Thr601Ile) single nucleotide variant not specified [RCV004350647] Chr1:205065895 [GRCh38]
Chr1:205035023 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.900T>C (p.Asp300=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003875579] Chr1:205061347 [GRCh38]
Chr1:205030475 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003873972] Chr1:205064692 [GRCh38]
Chr1:205033820 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003827156] Chr1:205073750 [GRCh38]
Chr1:205042878 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003878840] Chr1:205073211 [GRCh38]
Chr1:205042339 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-6G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742531] Chr1:205062434 [GRCh38]
Chr1:205031562 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1695+8C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741588] Chr1:205065270 [GRCh38]
Chr1:205034398 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2544+14T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742521] Chr1:205070552 [GRCh38]
Chr1:205039680 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1519+14T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581509] Chr1:205064764 [GRCh38]
Chr1:205033892 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581523] Chr1:205062499 [GRCh38]
Chr1:205031627 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582773] Chr1:205073202 [GRCh38]
Chr1:205042330 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs) deletion Epilepsy, familial adult myoclonic, 5 [RCV003741683] Chr1:205067206..205067224 [GRCh38]
Chr1:205036334..205036352 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.71-6C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741721] Chr1:205057915 [GRCh38]
Chr1:205027043 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741697] Chr1:205057974 [GRCh38]
Chr1:205027102 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.391+8C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741783] Chr1:205058364 [GRCh38]
Chr1:205027492 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.698-12C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005062112] Chr1:205059571 [GRCh38]
Chr1:205028699 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs) duplication Epilepsy, familial adult myoclonic, 5 [RCV003583131] Chr1:205064404..205064405 [GRCh38]
Chr1:205033532..205033533 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740691] Chr1:205073223 [GRCh38]
Chr1:205042351 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2732-12C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740727] Chr1:205072471 [GRCh38]
Chr1:205041599 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.636C>T (p.His212=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740731] Chr1:205059232 [GRCh38]
Chr1:205028360 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1240+15G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740702] Chr1:205062584 [GRCh38]
Chr1:205031712 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2126-12G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742072] Chr1:205069479 [GRCh38]
Chr1:205038607 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2683G>A (p.Gly895Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742051] Chr1:205072085 [GRCh38]
Chr1:205041213 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582388] Chr1:205072562 [GRCh38]
Chr1:205041690 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1647C>T (p.Phe549=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581122] Chr1:205065214 [GRCh38]
Chr1:205034342 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1975+13C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741044] Chr1:205066612 [GRCh38]
Chr1:205035740 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1392-14T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740947] Chr1:205064609 [GRCh38]
Chr1:205033737 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-7T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741014] Chr1:205062433 [GRCh38]
Chr1:205031561 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1696-9C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742370] Chr1:205065780 [GRCh38]
Chr1:205034908 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.792T>C (p.Phe264=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742455] Chr1:205059677 [GRCh38]
Chr1:205028805 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2197-9G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741055] Chr1:205069818 [GRCh38]
Chr1:205038946 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.216-19C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742416] Chr1:205058162 [GRCh38]
Chr1:205027290 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1197T>C (p.Asn399=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582634] Chr1:205062526 [GRCh38]
Chr1:205031654 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2715C>T (p.Ala905=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741404] Chr1:205072117 [GRCh38]
Chr1:205041245 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2545-11G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581198] Chr1:205071936 [GRCh38]
Chr1:205041064 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742563] Chr1:205073190 [GRCh38]
Chr1:205042318 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter) indel Epilepsy, familial adult myoclonic, 5 [RCV003742581] Chr1:205058009..205058010 [GRCh38]
Chr1:205027137..205027138 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.387C>T (p.Phe129=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581364] Chr1:205058352 [GRCh38]
Chr1:205027480 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582390] Chr1:205069934 [GRCh38]
Chr1:205039062 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.141A>C (p.Leu47=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741103] Chr1:205057991 [GRCh38]
Chr1:205027119 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741900] Chr1:205059651 [GRCh38]
Chr1:205028779 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.2544+20T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742394] Chr1:205070558 [GRCh38]
Chr1:205039686 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581991] Chr1:205070490 [GRCh38]
Chr1:205039618 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.816G>A (p.Lys272=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742536] Chr1:205061263 [GRCh38]
Chr1:205030391 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.215+11T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003840093] Chr1:205058076 [GRCh38]
Chr1:205027204 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2448T>C (p.Pro816=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741408] Chr1:205070442 [GRCh38]
Chr1:205039570 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.99C>T (p.Thr33=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741421] Chr1:205057949 [GRCh38]
Chr1:205027077 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742021] Chr1:205069871 [GRCh38]
Chr1:205038999 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.777G>A (p.Leu259=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742586] Chr1:205059662 [GRCh38]
Chr1:205028790 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+20C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582722] Chr1:205064492 [GRCh38]
Chr1:205033620 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.756G>A (p.Leu252=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740841] Chr1:205059641 [GRCh38]
Chr1:205028769 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.273G>C (p.Val91=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740889] Chr1:205058238 [GRCh38]
Chr1:205027366 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740917] Chr1:205061956 [GRCh38]
Chr1:205031084 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.391+7C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741642] Chr1:205058363 [GRCh38]
Chr1:205027491 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1617C>T (p.Asp539=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582779] Chr1:205065184 [GRCh38]
Chr1:205034312 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2718G>A (p.Thr906=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003832071] Chr1:205072120 [GRCh38]
Chr1:205041248 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2718G>T (p.Thr906=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582020] Chr1:205072120 [GRCh38]
Chr1:205041248 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-6G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003838876] Chr1:205062434 [GRCh38]
Chr1:205031562 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.948C>T (p.Thr316=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742410] Chr1:205061395 [GRCh38]
Chr1:205030523 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1695+3G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581219] Chr1:205065265 [GRCh38]
Chr1:205034393 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.102C>T (p.Thr34=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741465] Chr1:205057952 [GRCh38]
Chr1:205027080 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741560] Chr1:205066586 [GRCh38]
Chr1:205035714 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.698-14C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742562] Chr1:205059569 [GRCh38]
Chr1:205028697 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003583017] Chr1:205064434 [GRCh38]
Chr1:205033562 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3013+15C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741752] Chr1:205073251 [GRCh38]
Chr1:205042379 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.222G>A (p.Lys74=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741778] Chr1:205058187 [GRCh38]
Chr1:205027315 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.798-6T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741371] Chr1:205061239 [GRCh38]
Chr1:205030367 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1800C>A (p.Ala600=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003837654] Chr1:205065893 [GRCh38]
Chr1:205035021 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1696-10C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003583000] Chr1:205065779 [GRCh38]
Chr1:205034907 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2676C>T (p.Asn892=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581150] Chr1:205072078 [GRCh38]
Chr1:205041206 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.215+20T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741111] Chr1:205058085 [GRCh38]
Chr1:205027213 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1695+20C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742421] Chr1:205065282 [GRCh38]
Chr1:205034410 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs) deletion Epilepsy, familial adult myoclonic, 5 [RCV003741903] Chr1:205067191..205067192 [GRCh38]
Chr1:205036319..205036320 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.1391+18C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741961] Chr1:205064490 [GRCh38]
Chr1:205033618 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.234C>T (p.Thr78=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581296] Chr1:205058199 [GRCh38]
Chr1:205027327 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.273G>T (p.Val91=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740661] Chr1:205058238 [GRCh38]
Chr1:205027366 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2051G>A (p.Arg684Gln) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003740787] Chr1:205067176 [GRCh38]
Chr1:205036304 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581433] Chr1:205070024 [GRCh38]
Chr1:205039152 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.487+18del deletion Epilepsy, familial adult myoclonic, 5 [RCV003741489] Chr1:205058678 [GRCh38]
Chr1:205027806 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.1519+18G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003581390] Chr1:205064768 [GRCh38]
Chr1:205033896 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.615C>T (p.Tyr205=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742207] Chr1:205059211 [GRCh38]
Chr1:205028339 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2550C>G (p.Arg850=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742304] Chr1:205071952 [GRCh38]
Chr1:205041080 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+13C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003855313] Chr1:205064485 [GRCh38]
Chr1:205033613 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.342C>T (p.Ser114=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582671] Chr1:205058307 [GRCh38]
Chr1:205027435 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3013+19C>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003741390] Chr1:205073255 [GRCh38]
Chr1:205042383 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2545-10C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742508] Chr1:205071937 [GRCh38]
Chr1:205041065 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1696-2A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582188] Chr1:205065787 [GRCh38]
Chr1:205034915 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.2544+9C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003742575] Chr1:205070547 [GRCh38]
Chr1:205039675 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1816+8G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003582005] Chr1:205065917 [GRCh38]
Chr1:205035045 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1989C>T (p.Ile663=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003845449] Chr1:205067114 [GRCh38]
Chr1:205036242 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2197-7C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003844934] Chr1:205069820 [GRCh38]
Chr1:205038948 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.369G>A (p.Arg123=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003856949] Chr1:205058334 [GRCh38]
Chr1:205027462 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1392-12T>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003841981] Chr1:205064611 [GRCh38]
Chr1:205033739 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2173G>A (p.Gly725Arg) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003840795] Chr1:205069538 [GRCh38]
Chr1:205038666 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1696-15T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003861525] Chr1:205065774 [GRCh38]
Chr1:205034902 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2432-19A>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV003862375] Chr1:205070407 [GRCh38]
Chr1:205039535 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1300G>A (p.Gly434Arg) single nucleotide variant not specified [RCV004442100] Chr1:205064381 [GRCh38]
Chr1:205033509 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.62C>T (p.Ser21Phe) single nucleotide variant not specified [RCV004442103] Chr1:205053247 [GRCh38]
Chr1:205022375 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2117G>A (p.Arg706Lys) single nucleotide variant not specified [RCV004442102] Chr1:205067242 [GRCh38]
Chr1:205036370 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.673G>A (p.Ala225Thr) single nucleotide variant not specified [RCV004442104] Chr1:205059269 [GRCh38]
Chr1:205028397 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1422C>T (p.Ile474=) single nucleotide variant CNTN2-related disorder [RCV003981595] Chr1:205064653 [GRCh38]
Chr1:205033781 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs) deletion Epilepsy, familial adult myoclonic, 5 [RCV004525817] Chr1:205073096..205073097 [GRCh38]
Chr1:205042224..205042225 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5:c.1699G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV004525818]   pathogenic
NM_005076.5(CNTN2):c.757G>A (p.Val253Met) single nucleotide variant not specified [RCV004615558] Chr1:205059642 [GRCh38]
Chr1:205028770 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NC_000001.10:g.(?_205022314)_(205042893_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV004584115] Chr1:205022314..205042893 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_205034083)_(205035624_?)del deletion Epilepsy, familial adult myoclonic, 5 [RCV004584116] Chr1:205034083..205035624 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.1673G>A (p.Gly558Glu) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005067141] Chr1:205065240 [GRCh38]
Chr1:205034368 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1506C>T (p.Ile502=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005147778] Chr1:205064737 [GRCh38]
Chr1:205033865 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1520-6T>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005085922] Chr1:205065081 [GRCh38]
Chr1:205034209 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.798-8C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005088033] Chr1:205061237 [GRCh38]
Chr1:205030365 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2220C>T (p.Asn740=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005146121] Chr1:205069850 [GRCh38]
Chr1:205038978 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.750T>C (p.Tyr250=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005175404] Chr1:205059635 [GRCh38]
Chr1:205028763 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.333C>T (p.Cys111=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005085032] Chr1:205058298 [GRCh38]
Chr1:205027426 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.361G>C (p.Val121Leu) single nucleotide variant not specified [RCV004905118] Chr1:205058326 [GRCh38]
Chr1:205027454 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.1552G>A (p.Ala518Thr) single nucleotide variant not specified [RCV004905119] Chr1:205065119 [GRCh38]
Chr1:205034247 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2872A>T (p.Thr958Ser) single nucleotide variant not specified [RCV004905120] Chr1:205073095 [GRCh38]
Chr1:205042223 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.775C>G (p.Leu259Val) single nucleotide variant not specified [RCV004905121] Chr1:205059660 [GRCh38]
Chr1:205028788 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2197-4_2197-3dup duplication Epilepsy, familial adult myoclonic, 5 [RCV005122752] Chr1:205069821..205069822 [GRCh38]
Chr1:205038949..205038950 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2385G>A (p.Gly795=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005162105] Chr1:205070015 [GRCh38]
Chr1:205039143 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3096G>A (p.Leu1032=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005135792] Chr1:205073738 [GRCh38]
Chr1:205042866 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.392-7C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005076075] Chr1:205058561 [GRCh38]
Chr1:205027689 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.924G>A (p.Ala308=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005073345] Chr1:205061371 [GRCh38]
Chr1:205030499 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.488-12C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005153114] Chr1:205059072 [GRCh38]
Chr1:205028200 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.114C>G (p.Val38=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005198657] Chr1:205057964 [GRCh38]
Chr1:205027092 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1111-6G>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005128298] Chr1:205062434 [GRCh38]
Chr1:205031562 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.797+19G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005186744] Chr1:205059701 [GRCh38]
Chr1:205028829 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.192G>A (p.Arg64=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005118813] Chr1:205058042 [GRCh38]
Chr1:205027170 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3014-20_3014-19del deletion Epilepsy, familial adult myoclonic, 5 [RCV005143325] Chr1:205073635..205073636 [GRCh38]
Chr1:205042763..205042764 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1572C>T (p.Asp524=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005143405] Chr1:205065139 [GRCh38]
Chr1:205034267 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2001C>G (p.Ala667=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005143392] Chr1:205067126 [GRCh38]
Chr1:205036254 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2484G>A (p.Glu828=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005077730] Chr1:205070478 [GRCh38]
Chr1:205039606 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.450G>A (p.Gly150=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005166486] Chr1:205058626 [GRCh38]
Chr1:205027754 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1909C>T (p.Pro637Ser) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005084262] Chr1:205066533 [GRCh38]
Chr1:205035661 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.698-20G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005185955] Chr1:205059563 [GRCh38]
Chr1:205028691 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2731+15C>T single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005178221] Chr1:205072148 [GRCh38]
Chr1:205041276 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.798-2A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005201494] Chr1:205061243 [GRCh38]
Chr1:205030371 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_005076.5(CNTN2):c.1350G>A (p.Val450=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005128813] Chr1:205064431 [GRCh38]
Chr1:205033559 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2802T>C (p.Pro934=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005204059] Chr1:205072553 [GRCh38]
Chr1:205041681 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.974-18T>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005206302] Chr1:205061847 [GRCh38]
Chr1:205030975 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1696A>T (p.Lys566Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005135387] Chr1:205065789 [GRCh38]
Chr1:205034917 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.1029C>T (p.Asn343=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005164492] Chr1:205061920 [GRCh38]
Chr1:205031048 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.391+15G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005166719] Chr1:205058371 [GRCh38]
Chr1:205027499 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1695+17G>C single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005134765] Chr1:205065279 [GRCh38]
Chr1:205034407 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.943_944del (p.Asp315fs) microsatellite Epilepsy, familial adult myoclonic, 5 [RCV005204689] Chr1:205061388..205061389 [GRCh38]
Chr1:205030516..205030517 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.2289G>A (p.Val763=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005129859] Chr1:205069919 [GRCh38]
Chr1:205039047 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2845-4A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005207620] Chr1:205073064 [GRCh38]
Chr1:205042192 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1138C>T (p.Leu380=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005155781] Chr1:205062467 [GRCh38]
Chr1:205031595 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1696-9del deletion Epilepsy, familial adult myoclonic, 5 [RCV005208044] Chr1:205065777 [GRCh38]
Chr1:205034905 [GRCh37]
Chr1:1q32.1		 benign
NM_005076.5(CNTN2):c.801T>G (p.Pro267=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005208043] Chr1:205061248 [GRCh38]
Chr1:205030376 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2133G>A (p.Ser711=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005162300] Chr1:205069498 [GRCh38]
Chr1:205038626 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1884G>A (p.Trp628Ter) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005120009] Chr1:205066508 [GRCh38]
Chr1:205035636 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.1218C>G (p.Ala406=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005083737] Chr1:205062547 [GRCh38]
Chr1:205031675 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.747C>T (p.Thr249=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005192680] Chr1:205059632 [GRCh38]
Chr1:205028760 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.278G>A (p.Gly93Asp) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005192712] Chr1:205058243 [GRCh38]
Chr1:205027371 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_005076.5(CNTN2):c.2544+11A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005206579] Chr1:205070549 [GRCh38]
Chr1:205039677 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.697+8_697+10dup duplication Epilepsy, familial adult myoclonic, 5 [RCV005199430] Chr1:205059300..205059301 [GRCh38]
Chr1:205028428..205028429 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.487+15G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005177809] Chr1:205058678 [GRCh38]
Chr1:205027806 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.210C>G (p.Thr70=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005072229] Chr1:205058060 [GRCh38]
Chr1:205027188 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1391+17A>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005123970] Chr1:205064489 [GRCh38]
Chr1:205033617 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2337G>T (p.Arg779=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005127291] Chr1:205069967 [GRCh38]
Chr1:205039095 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1737G>A (p.Leu579=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005154011] Chr1:205065830 [GRCh38]
Chr1:205034958 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1711del (p.Asp571fs) deletion Epilepsy, familial adult myoclonic, 5 [RCV005180422] Chr1:205065801 [GRCh38]
Chr1:205034929 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_005076.5(CNTN2):c.2859T>C (p.Asn953=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005154308] Chr1:205073082 [GRCh38]
Chr1:205042210 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1845G>A (p.Val615=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005200261] Chr1:205066469 [GRCh38]
Chr1:205035597 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.2175A>T (p.Gly725=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005125404] Chr1:205069540 [GRCh38]
Chr1:205038668 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.216-6C>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005155674] Chr1:205058175 [GRCh38]
Chr1:205027303 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.543G>A (p.Gly181=) single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005205569] Chr1:205059139 [GRCh38]
Chr1:205028267 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.3014-15T>G single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005180790] Chr1:205073641 [GRCh38]
Chr1:205042769 [GRCh37]
Chr1:1q32.1		 likely benign
NM_005076.5(CNTN2):c.1817-6G>A single nucleotide variant Epilepsy, familial adult myoclonic, 5 [RCV005180949] Chr1:205066435 [GRCh38]
Chr1:205035563 [GRCh37]
Chr1:1q32.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4178
Count of miRNA genes:1247
Interacting mature miRNAs:1634
Transcripts:ENST00000331830, ENST00000481872, ENST00000525433, ENST00000527340, ENST00000530117, ENST00000530594, ENST00000532366
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597599131GWAS1655991_HHbA1c measurement QTL GWAS1655991 (human)3e-12HbA1c measurementblood hemoglobin A1c level (CMO:0002786)1205055445205055446Human
597167966GWAS1264040_Haspartate aminotransferase measurement QTL GWAS1264040 (human)5e-22aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)1205075211205075212Human
597428763GWAS1524837_Hprotein measurement QTL GWAS1524837 (human)2e-148protein measurement1205061734205061735Human
597407315GWAS1503389_Hcontactin-2 measurement QTL GWAS1503389 (human)8e-150contactin-2 measurement1205043070205043071Human
597477781GWAS1573855_Hblood protein measurement QTL GWAS1573855 (human)6e-136blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1205043070205043071Human
597431573GWAS1527647_Hurate measurement QTL GWAS1527647 (human)3e-11urate measurementblood uric acid level (CMO:0000501)1205062641205062642Human
597072602GWAS1168676_Hschizophrenia QTL GWAS1168676 (human)0.000003schizophrenia1205046156205046157Human
597175956GWAS1272030_Hcontactin-2 measurement QTL GWAS1272030 (human)3e-166contactin-2 measurement1205050098205050099Human
597346580GWAS1442654_HFEV/FVC ratio QTL GWAS1442654 (human)3e-15FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1205054884205054885Human
597407316GWAS1503390_Hcontactin-2 measurement QTL GWAS1503390 (human)1e-90contactin-2 measurement1205060993205060994Human
597123783GWAS1219857_Hblood protein measurement QTL GWAS1219857 (human)5e-79blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1205050098205050099Human
597213705GWAS1309779_Hschizophrenia QTL GWAS1309779 (human)0.0000009schizophrenia1205046156205046157Human
597590031GWAS1646891_Htype 2 diabetes mellitus QTL GWAS1646891 (human)4e-12pancreas integrity trait (VT:0010560)1205055445205055446Human
597507855GWAS1603929_Hcontactin-2 measurement QTL GWAS1603929 (human)1e-76contactin-2 measurement1205058433205058434Human
597318152GWAS1414226_Hsmoking initiation QTL GWAS1414226 (human)7e-10smoking initiation1205075211205075212Human
597214923GWAS1310997_Hrenin measurement QTL GWAS1310997 (human)1e-19renin activity (VT:0005581)1205052821205052822Human
597240973GWAS1337047_HBMI-adjusted waist-hip ratio QTL GWAS1337047 (human)3e-10body size trait (VT:0100005)1205075959205075960Human
597272449GWAS1368523_Hcontactin-2 measurement QTL GWAS1368523 (human)4e-39contactin-2 measurement1205056159205056160Human
597443524GWAS1539598_Htriglyceride:HDL cholesterol ratio QTL GWAS1539598 (human)0.0000002blood triglyceride amount (VT:0002644)1205072414205072415Human
597272448GWAS1368522_Hcontactin-2 measurement QTL GWAS1368522 (human)9e-43contactin-2 measurement1205055445205055446Human
597304323GWAS1400397_Hcontactin-2 measurement QTL GWAS1400397 (human)1e-24contactin-2 measurement1205058609205058610Human
597417026GWAS1513100_Hmathematical ability QTL GWAS1513100 (human)2e-08mathematical ability1205068548205068549Human
597585924GWAS1642784_Htype 2 diabetes mellitus QTL GWAS1642784 (human)3e-10type 2 diabetes mellitus1205042978205042979Human
597524231GWAS1620305_Hcontactin-2 measurement QTL GWAS1620305 (human)9e-615contactin-2 measurement1205043070205043071Human
597585925GWAS1642785_Htype 2 diabetes mellitus QTL GWAS1642785 (human)7e-22type 2 diabetes mellitus1205055445205055446Human
597346497GWAS1442571_Hurate measurement QTL GWAS1442571 (human)2e-10urate measurementblood uric acid level (CMO:0000501)1205075714205075715Human
597086154GWAS1182228_Htype 2 diabetes mellitus QTL GWAS1182228 (human)1e-10type 2 diabetes mellitus1205075211205075212Human
597427394GWAS1523468_Hurate measurement QTL GWAS1523468 (human)3e-15urate measurementblood uric acid level (CMO:0000501)1205075714205075715Human
597108528GWAS1204602_Hmathematical ability QTL GWAS1204602 (human)4e-08mathematical ability1205045802205045803Human
597495354GWAS1591428_Hsoluble transferrin receptor measurement QTL GWAS1591428 (human)6e-11soluble transferrin receptor measurement1205072824205072825Human
597388338GWAS1484412_Herythrocyte count QTL GWAS1484412 (human)2e-12erythrocyte countred blood cell count (CMO:0000025)1205072824205072825Human
597486832GWAS1582906_Hcontactin-2 measurement QTL GWAS1582906 (human)4e-11contactin-2 measurement1205061734205061735Human
597033979GWAS1130053_Hrisk-taking behaviour QTL GWAS1130053 (human)5e-10risk-taking behaviour1205072030205072031Human
597103674GWAS1199748_Haspartate aminotransferase measurement QTL GWAS1199748 (human)1e-17aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)1205075211205075212Human
597392117GWAS1488191_Hschizophrenia QTL GWAS1488191 (human)0.0000005schizophrenia1205066327205066328Human
597330538GWAS1426612_Hurate measurement QTL GWAS1426612 (human)4e-13urate measurementblood uric acid level (CMO:0000501)1205075714205075715Human
597292456GWAS1388530_HBMI-adjusted waist-hip ratio QTL GWAS1388530 (human)8e-10body size trait (VT:0100005)1205075959205075960Human
597418344GWAS1514418_Hmathematical ability QTL GWAS1514418 (human)3e-08mathematical ability1205067698205067699Human
597444968GWAS1541042_Hcontactin-2 measurement QTL GWAS1541042 (human)3e-61contactin-2 measurement1205058433205058434Human
597389871GWAS1485945_Hhigh density lipoprotein cholesterol measurement QTL GWAS1485945 (human)3e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1205072414205072415Human
597027874GWAS1123948_Hblood protein measurement QTL GWAS1123948 (human)1e-67blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1205054884205054885Human
597467812GWAS1563886_Hwaist-hip ratio QTL GWAS1563886 (human)7e-12waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1205072414205072415Human
597252512GWAS1348586_Hcleft lip QTL GWAS1348586 (human)0.000007cleft lip1205047570205047571Human
597444325GWAS1540399_Htriglyceride:HDL cholesterol ratio QTL GWAS1540399 (human)5e-10blood triglyceride amount (VT:0002644)1205072414205072415Human
597340128GWAS1436202_Hhemoglobin measurement QTL GWAS1436202 (human)8e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)1205071815205071816Human
597444967GWAS1541041_Hcontactin-2 measurement QTL GWAS1541041 (human)7e-108contactin-2 measurement1205043070205043071Human
597508065GWAS1604139_Hsmoking initiation QTL GWAS1604139 (human)8e-12smoking initiation1205072824205072825Human

Markers in Region
D1S2773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,017,986 - 205,018,123UniSTSGRCh37
Build 361203,284,609 - 203,284,746RGDNCBI36
Celera1178,153,053 - 178,153,190RGD
Cytogenetic Map1q32.1UniSTS
Marshfield Genetic Map1219.92RGD
Marshfield Genetic Map1219.92UniSTS
Genethon Genetic Map1224.5UniSTS
SHGC-76210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,046,981 - 205,047,121UniSTSGRCh37
Build 361203,313,604 - 203,313,744RGDNCBI36
Celera1178,182,043 - 178,182,183RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,212,483 - 176,212,623UniSTS
TNG Radiation Hybrid Map1100934.0UniSTS
GeneMap99-GB4 RH Map1677.47UniSTS
GeneMap99-GB4 RH Map1677.58UniSTS
Whitehead-RH Map1833.1UniSTS
WI-15551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,043,925 - 205,044,074UniSTSGRCh37
Build 361203,310,548 - 203,310,697RGDNCBI36
Celera1178,178,987 - 178,179,136RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,209,427 - 176,209,576UniSTS
GeneMap99-GB4 RH Map1677.58UniSTS
GeneMap99-GB4 RH Map1678.07UniSTS
Whitehead-RH Map1832.9UniSTS
NCBI RH Map11785.6UniSTS
G59928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,035,242 - 205,035,341UniSTSGRCh37
Build 361203,301,865 - 203,301,964RGDNCBI36
Celera1178,170,309 - 178,170,408RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,200,748 - 176,200,847UniSTS
TNG Radiation Hybrid Map1100975.0UniSTS
SHGC-132335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,017,833 - 205,018,125UniSTSGRCh37
Build 361203,284,456 - 203,284,748RGDNCBI36
Celera1178,152,900 - 178,153,192RGD
Cytogenetic Map1q32.1UniSTS
TNG Radiation Hybrid Map1100960.0UniSTS
RH70875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,043,598 - 205,043,765UniSTSGRCh37
Build 361203,310,221 - 203,310,388RGDNCBI36
Celera1178,178,660 - 178,178,827RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,209,100 - 176,209,267UniSTS
GeneMap99-GB4 RH Map1678.27UniSTS
SHGC-155664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,042,453 - 205,042,730UniSTSGRCh37
Build 361203,309,076 - 203,309,353RGDNCBI36
Celera1178,177,515 - 178,177,792RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,207,955 - 176,208,232UniSTS
TNG Radiation Hybrid Map1100934.0UniSTS
SHGC-76214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,043,303 - 205,043,568UniSTSGRCh37
Build 361203,309,926 - 203,310,191RGDNCBI36
Celera1178,178,365 - 178,178,630RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,208,805 - 176,209,070UniSTS
TNG Radiation Hybrid Map1100934.0UniSTS
GeneMap99-GB4 RH Map1677.86UniSTS
Whitehead-RH Map1833.0UniSTS
NCBI RH Map11785.6UniSTS
CNTN2_7885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,046,756 - 205,047,287UniSTSGRCh37
Build 361203,313,379 - 203,313,910RGDNCBI36
Celera1178,181,818 - 178,182,349RGD
HuRef1176,212,258 - 176,212,789UniSTS
G54651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,035,218 - 205,035,567UniSTSGRCh37
Celera1178,170,285 - 178,170,634UniSTS
Cytogenetic Map1q32.1UniSTS
HuRef1176,200,724 - 176,201,073UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1195 2276 2754 2209 4847 1509 1913 438 1206 277 2188 5997 5662 15 3688 1 639 1590 1371 164 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN289415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA097888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000331830   ⟹   ENSP00000330633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,212 - 205,078,289 (+)Ensembl
Ensembl Acc Id: ENST00000481872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,058,605 - 205,074,956 (+)Ensembl
Ensembl Acc Id: ENST00000525433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,062,448 - 205,074,934 (+)Ensembl
Ensembl Acc Id: ENST00000527340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,061,834 - 205,064,728 (+)Ensembl
Ensembl Acc Id: ENST00000530117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,058,383 - 205,062,335 (+)Ensembl
Ensembl Acc Id: ENST00000530594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,061,265 - 205,066,346 (+)Ensembl
Ensembl Acc Id: ENST00000532366   ⟹   ENSP00000491665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,202 - 205,059,143 (+)Ensembl
Ensembl Acc Id: ENST00000636312   ⟹   ENSP00000489754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,059,127 - 205,077,956 (+)Ensembl
Ensembl Acc Id: ENST00000636641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,065,156 - 205,068,878 (+)Ensembl
Ensembl Acc Id: ENST00000636809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,193 - 205,070,808 (+)Ensembl
Ensembl Acc Id: ENST00000638050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,066,554 - 205,070,666 (+)Ensembl
Ensembl Acc Id: ENST00000638378   ⟹   ENSP00000492617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,042,968 - 205,074,928 (+)Ensembl
Ensembl Acc Id: ENST00000638449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,061,393 - 205,070,451 (+)Ensembl
Ensembl Acc Id: ENST00000638577   ⟹   ENSP00000492457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,065,857 - 205,074,826 (+)Ensembl
Ensembl Acc Id: ENST00000638715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,066,352 - 205,074,944 (+)Ensembl
Ensembl Acc Id: ENST00000638928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,058,431 - 205,060,687 (+)Ensembl
Ensembl Acc Id: ENST00000638980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,061,404 - 205,067,870 (+)Ensembl
Ensembl Acc Id: ENST00000639015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,058,347 - 205,060,520 (+)Ensembl
Ensembl Acc Id: ENST00000639023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,058,486 - 205,074,893 (+)Ensembl
Ensembl Acc Id: ENST00000639122   ⟹   ENSP00000491982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,061,257 - 205,074,946 (+)Ensembl
Ensembl Acc Id: ENST00000639156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,061,536 - 205,063,610 (+)Ensembl
Ensembl Acc Id: ENST00000639302   ⟹   ENSP00000491671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,210 - 205,074,944 (+)Ensembl
Ensembl Acc Id: ENST00000639354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,068,059 - 205,070,856 (+)Ensembl
Ensembl Acc Id: ENST00000639503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,060,776 - 205,064,641 (+)Ensembl
Ensembl Acc Id: ENST00000639788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,066,466 - 205,075,176 (+)Ensembl
Ensembl Acc Id: ENST00000639831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,059,391 - 205,063,583 (+)Ensembl
Ensembl Acc Id: ENST00000639843   ⟹   ENSP00000491680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,064,713 - 205,074,929 (+)Ensembl
Ensembl Acc Id: ENST00000639971   ⟹   ENSP00000491959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,212 - 205,074,929 (+)Ensembl
Ensembl Acc Id: ENST00000640227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,070,004 - 205,074,804 (+)Ensembl
Ensembl Acc Id: ENST00000640326   ⟹   ENSP00000492495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,212 - 205,075,638 (+)Ensembl
Ensembl Acc Id: ENST00000640352   ⟹   ENSP00000491080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,042,937 - 205,073,107 (+)Ensembl
Ensembl Acc Id: ENST00000640428   ⟹   ENSP00000491474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,043,196 - 205,074,944 (+)Ensembl
Ensembl Acc Id: ENST00000640714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1205,072,991 - 205,074,042 (+)Ensembl
RefSeq Acc Id: NM_001346083   ⟹   NP_001333012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,042,949 - 205,078,289 (+)NCBI
T2T-CHM13v2.01204,307,317 - 204,342,659 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005076   ⟹   NP_005067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,043,212 - 205,078,289 (+)NCBI
GRCh371205,012,340 - 205,047,173 (+)NCBI
Build 361203,278,963 - 203,313,761 (+)NCBI Archive
HuRef1176,177,847 - 176,212,673 (+)ENTREZGENE
CHM1_11206,435,687 - 206,470,502 (+)NCBI
T2T-CHM13v2.01204,307,580 - 204,342,659 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144350
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,043,212 - 205,078,289 (+)NCBI
T2T-CHM13v2.01204,307,580 - 204,342,659 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002199   ⟹   XP_016857688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,043,212 - 205,078,289 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429102   ⟹   XP_047285058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,043,212 - 205,078,289 (+)NCBI
RefSeq Acc Id: XM_047429104   ⟹   XP_047285060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,042,949 - 205,078,289 (+)NCBI
RefSeq Acc Id: XM_054338512   ⟹   XP_054194487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01204,307,580 - 204,342,659 (+)NCBI
RefSeq Acc Id: XM_054338513   ⟹   XP_054194488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01204,308,933 - 204,342,659 (+)NCBI
RefSeq Acc Id: XM_054338514   ⟹   XP_054194489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01204,307,317 - 204,342,659 (+)NCBI
RefSeq Acc Id: XM_054338515   ⟹   XP_054194490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01204,307,580 - 204,342,659 (+)NCBI
RefSeq Acc Id: NP_005067   ⟸   NM_005076
- Peptide Label: precursor
- UniProtKB: P78432 (UniProtKB/Swiss-Prot),   Q5T054 (UniProtKB/Swiss-Prot),   Q02246 (UniProtKB/Swiss-Prot),   A1L3A3 (UniProtKB/TrEMBL),   A8K1S0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857688   ⟸   XM_017002199
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333012   ⟸   NM_001346083
- Peptide Label: precursor
- UniProtKB: P78432 (UniProtKB/Swiss-Prot),   Q5T054 (UniProtKB/Swiss-Prot),   Q02246 (UniProtKB/Swiss-Prot),   A1L3A3 (UniProtKB/TrEMBL),   A8K1S0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000330633   ⟸   ENST00000331830
Ensembl Acc Id: ENSP00000489754   ⟸   ENST00000636312
Ensembl Acc Id: ENSP00000492457   ⟸   ENST00000638577
Ensembl Acc Id: ENSP00000492617   ⟸   ENST00000638378
Ensembl Acc Id: ENSP00000491959   ⟸   ENST00000639971
Ensembl Acc Id: ENSP00000491680   ⟸   ENST00000639843
Ensembl Acc Id: ENSP00000491671   ⟸   ENST00000639302
Ensembl Acc Id: ENSP00000491665   ⟸   ENST00000532366
Ensembl Acc Id: ENSP00000491982   ⟸   ENST00000639122
Ensembl Acc Id: ENSP00000491474   ⟸   ENST00000640428
Ensembl Acc Id: ENSP00000492495   ⟸   ENST00000640326
Ensembl Acc Id: ENSP00000491080   ⟸   ENST00000640352
RefSeq Acc Id: XP_047285060   ⟸   XM_047429104
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285058   ⟸   XM_047429102
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194489   ⟸   XM_054338514
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194490   ⟸   XM_054338515
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194487   ⟸   XM_054338512
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194488   ⟸   XM_054338513
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTL7 (UniProtKB/TrEMBL)
Protein Domains
Fibronectin type-III   Ig-like   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02246-F1-model_v2 AlphaFold Q02246 1-1040 view protein structure

Promoters
RGD ID:6858710
Promoter ID:EPDNEW_H2520
Type:initiation region
Name:CNTN2_1
Description:contactin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2521  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,043,212 - 205,043,272EPDNEW
RGD ID:6858712
Promoter ID:EPDNEW_H2521
Type:single initiation site
Name:CNTN2_2
Description:contactin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2520  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,043,708 - 205,043,768EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2172 AgrOrtholog
COSMIC CNTN2 COSMIC
Ensembl Genes ENSG00000184144 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000331830 ENTREZGENE
  ENST00000331830.7 UniProtKB/Swiss-Prot
  ENST00000636312 ENTREZGENE
  ENST00000638378 ENTREZGENE
  ENST00000638378.1 UniProtKB/Swiss-Prot
  ENST00000639302.1 UniProtKB/Swiss-Prot
  ENST00000640326.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000184144 GTEx
HGNC ID HGNC:2172 ENTREZGENE
Human Proteome Map CNTN2 Human Proteome Map
InterPro Contactin-1_2_Ig1 UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
KEGG Report hsa:6900 UniProtKB/Swiss-Prot
NCBI Gene 6900 ENTREZGENE
OMIM 190197 OMIM
PANTHER CONTACTIN-2 UniProtKB/Swiss-Prot
  PROTEIN SIDEKICK UniProtKB/Swiss-Prot
Pfam fn3 UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
PharmGKB PA26686 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
UniProt A0A1B0GTL7 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPQ9_HUMAN UniProtKB/TrEMBL
  A0A1W2PPY1_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ11_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ86_HUMAN UniProtKB/TrEMBL
  A0A1W2PQJ4_HUMAN UniProtKB/TrEMBL
  A0A1W2PR60_HUMAN UniProtKB/TrEMBL
  A1L3A3 ENTREZGENE, UniProtKB/TrEMBL
  A8K1S0 ENTREZGENE, UniProtKB/TrEMBL
  CNTN2_HUMAN UniProtKB/Swiss-Prot
  L8ECB9_HUMAN UniProtKB/TrEMBL
  P78432 ENTREZGENE
  Q02246 ENTREZGENE
  Q5T054 ENTREZGENE
UniProt Secondary P78432 UniProtKB/Swiss-Prot
  Q5T054 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CNTN2  contactin 2  CNTN2  contactin 2 (axonal)  Symbol and/or name change 5135510 APPROVED