KCND2 (potassium voltage-gated channel subfamily D member 2) - Rat Genome Database

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Gene: KCND2 (potassium voltage-gated channel subfamily D member 2) Homo sapiens
Analyze
Symbol: KCND2
Name: potassium voltage-gated channel subfamily D member 2
RGD ID: 68574
HGNC Page HGNC:6238
Description: Enables A-type (transient outward) potassium channel activity. Involved in several processes, including action potential; membrane repolarization; and potassium ion transmembrane transport. Located in Kv4.2-KChIP2 channel complex. Part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA1044; KV4.2; MGC119702; MGC119703; potassium channel, voltage gated Shal related subfamily D, member 2; potassium voltage-gated channel, Shal-related subfamily, member 2; RK5; voltage-gated potassium channel Kv4.2; voltage-gated potassium channel subunit Kv4.2; voltage-sensitive potassium channel
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387120,272,908 - 120,750,337 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7120,273,175 - 120,750,337 (+)EnsemblGRCh38hg38GRCh38
GRCh377119,913,229 - 120,390,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367119,700,958 - 120,177,623 (+)NCBINCBI36Build 36hg18NCBI36
Build 347119,507,672 - 119,984,338NCBI
Celera7114,723,245 - 115,199,902 (+)NCBICelera
Cytogenetic Map7q31.31NCBI
HuRef7114,276,961 - 114,753,560 (+)NCBIHuRef
CHM1_17119,847,044 - 120,323,690 (+)NCBICHM1_1
T2T-CHM13v2.07121,573,495 - 122,065,688 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27119,308,832 - 119,785,474 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3',5'-cyclic AMP  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
aldrin  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
ATP  (EXP)
benzo[a]pyrene  (ISO)
beta-hexachlorocyclohexane  (ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carmustine  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
Cuprizon  (ISO)
D-glucose  (EXP)
dexamethasone  (EXP)
dichlorine  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
formaldehyde  (EXP)
furan  (ISO)
glucose  (EXP)
glyphosate  (ISO)
isoprenaline  (ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
ochratoxin A  (ISO)
ouabain  (EXP,ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (ISO)
potassium chloride  (ISO)
progesterone  (EXP,ISO)
rac-lactic acid  (EXP)
reserpine  (ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
scopolamine  (ISO)
serpentine asbestos  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
testosterone  (EXP,ISO)
trichostatin A  (EXP)
triticonazole  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
excitatory synaptic transmission pathway  (ISO)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term potentiation  (ISO)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Kv4 potassium channel subunits control action potential repolarization and frequency-dependent broadening in rat hippocampal CA1 pyramidal neurones. Kim J, etal., J Physiol. 2005 Nov 15;569(Pt 1):41-57. Epub 2005 Sep 1.
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
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
Additional References at PubMed
PMID:9843794   PMID:10470851   PMID:10479680   PMID:10551270   PMID:10676964   PMID:10729221   PMID:10942109   PMID:11102480   PMID:11287421   PMID:11606724   PMID:11747815   PMID:11847232  
PMID:12435606   PMID:12451113   PMID:12477932   PMID:12493773   PMID:12690205   PMID:12853948   PMID:14559911   PMID:14623880   PMID:14980201   PMID:14980207   PMID:15184042   PMID:15358149  
PMID:15454437   PMID:15489334   PMID:15563876   PMID:15991246   PMID:16260497   PMID:16382104   PMID:16820361   PMID:16934482   PMID:17102134   PMID:17981906   PMID:18364354   PMID:18463498  
PMID:19171772   PMID:19213956   PMID:19361449   PMID:19401682   PMID:19453640   PMID:19596445   PMID:20031566   PMID:20301690   PMID:20379614   PMID:20498229   PMID:20709747   PMID:21873635  
PMID:22122031   PMID:22488850   PMID:22610502   PMID:23225603   PMID:23692269   PMID:24037343   PMID:24225951   PMID:24501278   PMID:24675763   PMID:24811166   PMID:25003238   PMID:25214526  
PMID:25599232   PMID:25756524   PMID:26209633   PMID:26745419   PMID:27307045   PMID:28514442   PMID:29385176   PMID:29581270   PMID:30051729   PMID:30571183   PMID:30758987   PMID:32641494  
PMID:32977724   PMID:33961781   PMID:34245260   PMID:34552243  


Genomics

Comparative Map Data
KCND2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387120,272,908 - 120,750,337 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7120,273,175 - 120,750,337 (+)EnsemblGRCh38hg38GRCh38
GRCh377119,913,229 - 120,390,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367119,700,958 - 120,177,623 (+)NCBINCBI36Build 36hg18NCBI36
Build 347119,507,672 - 119,984,338NCBI
Celera7114,723,245 - 115,199,902 (+)NCBICelera
Cytogenetic Map7q31.31NCBI
HuRef7114,276,961 - 114,753,560 (+)NCBIHuRef
CHM1_17119,847,044 - 120,323,690 (+)NCBICHM1_1
T2T-CHM13v2.07121,573,495 - 122,065,688 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27119,308,832 - 119,785,474 (+)NCBI
Kcnd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39621,212,101 - 21,729,804 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl621,215,502 - 21,729,804 (+)EnsemblGRCm39 Ensembl
GRCm38621,215,346 - 21,729,805 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl621,215,503 - 21,729,805 (+)EnsemblGRCm38mm10GRCm38
MGSCv37621,166,109 - 21,679,805 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36621,166,110 - 21,679,806 (+)NCBIMGSCv36mm8
Celera621,270,473 - 21,783,671 (+)NCBICelera
Cytogenetic Map6A2- A3.1NCBI
cM Map68.49NCBI
Kcnd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8450,741,595 - 51,243,540 (+)NCBIGRCr8
mRatBN7.2449,775,812 - 50,277,746 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl449,776,246 - 50,277,728 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx454,749,390 - 55,256,964 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0450,670,509 - 51,178,050 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0449,094,034 - 49,606,328 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0448,309,283 - 48,816,804 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0448,099,455 - 48,609,215 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4447,541,787 - 48,047,924 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1447,772,679 - 48,277,046 (+)NCBI
Celera444,984,114 - 45,483,230 (+)NCBICelera
Cytogenetic Map4q22NCBI
Kcnd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554792,062,608 - 2,543,125 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554792,062,607 - 2,545,576 (+)NCBIChiLan1.0ChiLan1.0
KCND2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26157,137,701 - 157,618,726 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan179,147,110 - 9,628,983 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07112,277,018 - 112,751,896 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17124,965,851 - 125,439,913 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7124,966,816 - 125,437,430 (+)Ensemblpanpan1.1panPan2
KCND2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11458,441,274 - 58,915,512 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1457,856,409 - 58,331,857 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01458,473,978 - 58,950,142 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11458,569,218 - 59,043,928 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01458,192,134 - 58,667,882 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01458,569,685 - 59,045,993 (+)NCBIUU_Cfam_GSD_1.0
Kcnd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511847,376,410 - 47,833,708 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366054,372,671 - 4,825,423 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366054,370,222 - 4,828,972 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCND2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1826,139,457 - 26,623,233 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11826,139,457 - 26,624,210 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21827,744,043 - 27,759,304 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCND2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12189,091,939 - 89,575,464 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604214,004,421 - 14,488,070 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478315,351,870 - 15,891,057 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478315,349,416 - 15,892,011 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCND2
367 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012281.3(KCND2):c.456G>A (p.Ala152=) single nucleotide variant Early myoclonic encephalopathy [RCV000549397]|KCND2-related condition [RCV003915514] Chr7:120275088 [GRCh38]
Chr7:119915142 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.949C>T (p.Leu317=) single nucleotide variant Early myoclonic encephalopathy [RCV000548445]|KCND2-related condition [RCV003925615] Chr7:120275581 [GRCh38]
Chr7:119915635 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.216G>A (p.Arg72=) single nucleotide variant Early myoclonic encephalopathy [RCV000550286] Chr7:120274848 [GRCh38]
Chr7:119914902 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1 copy number loss See cases [RCV000054160] Chr7:113799835..124899218 [GRCh38]
Chr7:113439890..124539272 [GRCh37]
Chr7:113227126..124326508 [NCBI36]
Chr7:7q31.1-31.33		 pathogenic
NM_012281.2(KCND2):c.349G>A (p.Glu117Lys) single nucleotide variant Malignant melanoma [RCV000067594] Chr7:120274981 [GRCh38]
Chr7:119915035 [GRCh37]
Chr7:119702271 [NCBI36]
Chr7:7q31.31		 not provided
NM_012281.3(KCND2):c.684C>T (p.Ala228=) single nucleotide variant Early myoclonic encephalopathy [RCV003850772] Chr7:120275316 [GRCh38]
Chr7:119915370 [GRCh37]
Chr7:119702606 [NCBI36]
Chr7:7q31.31		 likely benign|not provided
NM_012281.2(KCND2):c.1115+8028G>T single nucleotide variant Lung cancer [RCV000105505] Chr7:120283775 [GRCh38]
Chr7:119923829 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.2(KCND2):c.1115+41852C>A single nucleotide variant Lung cancer [RCV000105506] Chr7:120317599 [GRCh38]
Chr7:119957653 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.2(KCND2):c.1115+55463A>G single nucleotide variant Lung cancer [RCV000105507] Chr7:120331210 [GRCh38]
Chr7:119971264 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.2(KCND2):c.1115+105163G>A single nucleotide variant Lung cancer [RCV000105508] Chr7:120380910 [GRCh38]
Chr7:120020964 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.2(KCND2):c.1116-99323A>G single nucleotide variant Lung cancer [RCV000105510] Chr7:120633580 [GRCh38]
Chr7:120273634 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1207C>G (p.Pro403Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001302928] Chr7:120732994 [GRCh38]
Chr7:120373048 [GRCh37]
Chr7:7q31.31		 pathogenic|uncertain significance
NM_012281.3(KCND2):c.1210G>A (p.Val404Met) single nucleotide variant Early myoclonic encephalopathy [RCV001224876]|Inborn genetic diseases [RCV003298146]|not provided [RCV000133516] Chr7:120732997 [GRCh38]
Chr7:120373051 [GRCh37]
Chr7:7q31.31		 pathogenic|uncertain significance
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 copy number loss See cases [RCV000135311] Chr7:114142477..125840381 [GRCh38]
Chr7:113782532..125480435 [GRCh37]
Chr7:113569768..125267671 [NCBI36]
Chr7:7q31.1-31.33		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31		 pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1 copy number loss See cases [RCV000240177] Chr7:111613396..127897316 [GRCh37]
Chr7:7q31.1-32.1		 pathogenic
NM_012281.3(KCND2):c.589G>A (p.Val197Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001211216] Chr7:120275221 [GRCh38]
Chr7:119915275 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1375-8G>T single nucleotide variant Early myoclonic encephalopathy [RCV000545505] Chr7:120742502 [GRCh38]
Chr7:120382556 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.52G>C (p.Gly18Arg) single nucleotide variant not provided [RCV002283036] Chr7:120274684 [GRCh38]
Chr7:119914738 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.821_825del (p.Tyr274fs) deletion Early myoclonic encephalopathy [RCV001856894]|not provided [RCV000488981] Chr7:120275450..120275454 [GRCh38]
Chr7:119915504..119915508 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1338G>A (p.Gln446=) single nucleotide variant Early myoclonic encephalopathy [RCV000530628]|not specified [RCV003230534] Chr7:120741593 [GRCh38]
Chr7:120381647 [GRCh37]
Chr7:7q31.31		 benign|likely benign
NM_012281.3(KCND2):c.746C>T (p.Ala249Val) single nucleotide variant Early myoclonic encephalopathy [RCV000527788]|Inborn genetic diseases [RCV002527715]|KCND2-related condition [RCV003935416] Chr7:120275378 [GRCh38]
Chr7:119915432 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.432C>T (p.Asn144=) single nucleotide variant Early myoclonic encephalopathy [RCV000534456] Chr7:120275064 [GRCh38]
Chr7:119915118 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.42A>G (p.Ala14=) single nucleotide variant Early myoclonic encephalopathy [RCV001422421] Chr7:120274674 [GRCh38]
Chr7:119914728 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.801G>A (p.Val267=) single nucleotide variant Early myoclonic encephalopathy [RCV000538092] Chr7:120275433 [GRCh38]
Chr7:119915487 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.978C>T (p.Phe326=) single nucleotide variant Early myoclonic encephalopathy [RCV000525734] Chr7:120275610 [GRCh38]
Chr7:119915664 [GRCh37]
Chr7:7q31.31		 likely benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012281.3(KCND2):c.1468-3C>T single nucleotide variant Early myoclonic encephalopathy [RCV000635161] Chr7:120745777 [GRCh38]
Chr7:120385831 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1325A>G (p.Asn442Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000635166] Chr7:120741580 [GRCh38]
Chr7:120381634 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.1441C>T (p.Leu481=) single nucleotide variant Early myoclonic encephalopathy [RCV000635189] Chr7:120742576 [GRCh38]
Chr7:120382630 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1473C>T (p.His491=) single nucleotide variant Early myoclonic encephalopathy [RCV000560331]|KCND2-related condition [RCV003979961] Chr7:120745785 [GRCh38]
Chr7:120385839 [GRCh37]
Chr7:7q31.31		 benign|likely benign
NM_012281.3(KCND2):c.1485C>T (p.Asp495=) single nucleotide variant Early myoclonic encephalopathy [RCV000535377] Chr7:120745797 [GRCh38]
Chr7:120385851 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1668C>T (p.Leu556=) single nucleotide variant Early myoclonic encephalopathy [RCV002529836] Chr7:120745980 [GRCh38]
Chr7:120386034 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.670C>A (p.Arg224=) single nucleotide variant Early myoclonic encephalopathy [RCV000635192] Chr7:120275302 [GRCh38]
Chr7:119915356 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1238A>G (p.Tyr413Cys) single nucleotide variant not provided [RCV000678345] Chr7:120733025 [GRCh38]
Chr7:120373079 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NM_012281.3(KCND2):c.31T>C (p.Phe11Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000690637] Chr7:120274663 [GRCh38]
Chr7:119914717 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.1628C>T (p.Ala543Val) single nucleotide variant Early myoclonic encephalopathy [RCV000689371] Chr7:120745940 [GRCh38]
Chr7:120385994 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1686A>C (p.Arg562Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000689765] Chr7:120745998 [GRCh38]
Chr7:120386052 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1716-7del deletion Early myoclonic encephalopathy [RCV000694703] Chr7:120747674 [GRCh38]
Chr7:120387728 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1467G>A (p.Thr489=) single nucleotide variant Early myoclonic encephalopathy [RCV000707354] Chr7:120742602 [GRCh38]
Chr7:120382656 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000688681] Chr7:120745846 [GRCh38]
Chr7:120385900 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NC_000007.13:g.(?_119914667)_(119915821_?)dup duplication Early myoclonic encephalopathy [RCV000707962] Chr7:120274613..120275767 [GRCh38]
Chr7:119914667..119915821 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1321G>A (p.Ala441Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000697741] Chr7:120741576 [GRCh38]
Chr7:120381630 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1598G>A (p.Arg533Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000696698] Chr7:120745910 [GRCh38]
Chr7:120385964 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012281.3(KCND2):c.-1197A>C single nucleotide variant not provided [RCV001689515] Chr7:120273436 [GRCh38]
Chr7:119913490 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.-1205C>T single nucleotide variant not provided [RCV001692705] Chr7:120273428 [GRCh38]
Chr7:119913482 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1758A>G (p.Leu586=) single nucleotide variant Early myoclonic encephalopathy [RCV000921517]|not provided [RCV003424474] Chr7:120747723 [GRCh38]
Chr7:120387777 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.468C>G (p.Thr156=) single nucleotide variant Early myoclonic encephalopathy [RCV000951202]|not specified [RCV003479253] Chr7:120275100 [GRCh38]
Chr7:119915154 [GRCh37]
Chr7:7q31.31		 benign|likely benign
NM_012281.3(KCND2):c.1314C>T (p.Ser438=) single nucleotide variant Early myoclonic encephalopathy [RCV000936717] Chr7:120741569 [GRCh38]
Chr7:120381623 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.402T>C (p.Tyr134=) single nucleotide variant Early myoclonic encephalopathy [RCV001449287] Chr7:120275034 [GRCh38]
Chr7:119915088 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.330G>A (p.Glu110=) single nucleotide variant Early myoclonic encephalopathy [RCV002539325] Chr7:120274962 [GRCh38]
Chr7:119915016 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1380A>G (p.Ser460=) single nucleotide variant Early myoclonic encephalopathy [RCV001489764] Chr7:120742515 [GRCh38]
Chr7:120382569 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1415C>T (p.Ser472Phe) single nucleotide variant Early myoclonic encephalopathy [RCV000946161] Chr7:120742550 [GRCh38]
Chr7:120382604 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1524T>A (p.Thr508=) single nucleotide variant not provided [RCV000976627] Chr7:120745836 [GRCh38]
Chr7:120385890 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.21G>C (p.Ala7=) single nucleotide variant Early myoclonic encephalopathy [RCV001471144] Chr7:120274653 [GRCh38]
Chr7:119914707 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012281.3(KCND2):c.1671C>T (p.Ser557=) single nucleotide variant Early myoclonic encephalopathy [RCV001041338] Chr7:120745983 [GRCh38]
Chr7:120386037 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NC_000007.14:g.(?_120732903)_(120840109_?)dup duplication not provided [RCV001032886] Chr7:120372957..120480163 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.573G>C (p.Thr191=) single nucleotide variant Early myoclonic encephalopathy [RCV001451696] Chr7:120275205 [GRCh38]
Chr7:119915259 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.195T>A (p.Thr65=) single nucleotide variant Early myoclonic encephalopathy [RCV001504225] Chr7:120274827 [GRCh38]
Chr7:119914881 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.708C>T (p.Cys236=) single nucleotide variant Early myoclonic encephalopathy [RCV000950527] Chr7:120275340 [GRCh38]
Chr7:119915394 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.652G>C (p.Glu218Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000820813] Chr7:120275284 [GRCh38]
Chr7:119915338 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.64G>C (p.Val22Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000802802]|Inborn genetic diseases [RCV002534722] Chr7:120274696 [GRCh38]
Chr7:119914750 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.385A>G (p.Ile129Val) single nucleotide variant Early myoclonic encephalopathy [RCV000799600] Chr7:120275017 [GRCh38]
Chr7:119915071 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.322C>T (p.Arg108Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000810447] Chr7:120274954 [GRCh38]
Chr7:119915008 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.296A>G (p.Tyr99Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000791704] Chr7:120274928 [GRCh38]
Chr7:119914982 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.646A>G (p.Ile216Val) single nucleotide variant Early myoclonic encephalopathy [RCV000808236] Chr7:120275278 [GRCh38]
Chr7:119915332 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1279-2A>G single nucleotide variant Early myoclonic encephalopathy [RCV000812932] Chr7:120741532 [GRCh38]
Chr7:120381586 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.989C>T (p.Ser330Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000813846] Chr7:120275621 [GRCh38]
Chr7:119915675 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1411G>C (p.Gly471Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000793240] Chr7:120742546 [GRCh38]
Chr7:120382600 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1095C>T (p.Ile365=) single nucleotide variant Early myoclonic encephalopathy [RCV000917017] Chr7:120275727 [GRCh38]
Chr7:119915781 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.299G>T (p.Arg100Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000820735] Chr7:120274931 [GRCh38]
Chr7:119914985 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32		 pathogenic
NM_012281.3(KCND2):c.108A>G (p.Lys36=) single nucleotide variant Early myoclonic encephalopathy [RCV001482835] Chr7:120274740 [GRCh38]
Chr7:119914794 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_012281.3(KCND2):c.61C>G (p.Pro21Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001227122] Chr7:120274693 [GRCh38]
Chr7:119914747 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.704C>T (p.Ala235Val) single nucleotide variant Early myoclonic encephalopathy [RCV001229309] Chr7:120275336 [GRCh38]
Chr7:119915390 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.716T>G (p.Ile239Ser) single nucleotide variant Inborn genetic diseases [RCV003240856] Chr7:120275348 [GRCh38]
Chr7:119915402 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.870C>A (p.Val290=) single nucleotide variant Early myoclonic encephalopathy [RCV001426599] Chr7:120275502 [GRCh38]
Chr7:119915556 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.318T>C (p.Tyr106=) single nucleotide variant Early myoclonic encephalopathy [RCV001393200] Chr7:120274950 [GRCh38]
Chr7:119915004 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.51C>T (p.Ile17=) single nucleotide variant Early myoclonic encephalopathy [RCV001446660] Chr7:120274683 [GRCh38]
Chr7:119914737 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1200A>G (p.Leu400=) single nucleotide variant Early myoclonic encephalopathy [RCV000945509] Chr7:120732987 [GRCh38]
Chr7:120373041 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1662A>G (p.Gln554=) single nucleotide variant Early myoclonic encephalopathy [RCV000952670] Chr7:120745974 [GRCh38]
Chr7:120386028 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.810C>A (p.Ile270=) single nucleotide variant Early myoclonic encephalopathy [RCV001433671] Chr7:120275442 [GRCh38]
Chr7:119915496 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.765C>T (p.Tyr255=) single nucleotide variant Early myoclonic encephalopathy [RCV000927164] Chr7:120275397 [GRCh38]
Chr7:119915451 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1374+6A>C single nucleotide variant Early myoclonic encephalopathy [RCV001069134] Chr7:120741635 [GRCh38]
Chr7:120381689 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1418G>C (p.Ser473Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001062965] Chr7:120742553 [GRCh38]
Chr7:120382607 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.1055G>C (p.Ser352Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001065357] Chr7:120275687 [GRCh38]
Chr7:119915741 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1468-182G>T single nucleotide variant not provided [RCV001717736] Chr7:120745598 [GRCh38]
Chr7:120385652 [GRCh37]
Chr7:7q31.31		 benign
GRCh37/hg19 7q31.31(chr7:119657972-120040577)x3 copy number gain not provided [RCV001006004] Chr7:119657972..120040577 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1374+68T>C single nucleotide variant not provided [RCV001676559] Chr7:120741697 [GRCh38]
Chr7:120381751 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1375-196C>T single nucleotide variant not provided [RCV001690765] Chr7:120742314 [GRCh38]
Chr7:120382368 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.33T>G (p.Phe11Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001218922] Chr7:120274665 [GRCh38]
Chr7:119914719 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.115C>G (p.Gln39Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001218612] Chr7:120274747 [GRCh38]
Chr7:119914801 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1278+4C>T single nucleotide variant Early myoclonic encephalopathy [RCV001038444]|not provided [RCV002067718] Chr7:120733069 [GRCh38]
Chr7:120373123 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1510A>G (p.Met504Val) single nucleotide variant Early myoclonic encephalopathy [RCV001038061] Chr7:120745822 [GRCh38]
Chr7:120385876 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1562C>T (p.Ser521Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001204847] Chr7:120745874 [GRCh38]
Chr7:120385928 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.702G>A (p.Thr234=) single nucleotide variant Early myoclonic encephalopathy [RCV001320586] Chr7:120275334 [GRCh38]
Chr7:119915388 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.151C>T (p.Arg51Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001317812] Chr7:120274783 [GRCh38]
Chr7:119914837 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.323G>A (p.Arg108His) single nucleotide variant Early myoclonic encephalopathy [RCV001339580] Chr7:120274955 [GRCh38]
Chr7:119915009 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1522_1523insAAA (p.Ala507_Thr508insLys) insertion Early myoclonic encephalopathy [RCV001337619] Chr7:120745832..120745833 [GRCh38]
Chr7:120385886..120385887 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001307073]|Inborn genetic diseases [RCV003284163]|not provided [RCV001664818] Chr7:120732995 [GRCh38]
Chr7:120373049 [GRCh37]
Chr7:7q31.31		 pathogenic|likely pathogenic|uncertain significance
NM_012281.3(KCND2):c.1300C>T (p.Arg434Trp) single nucleotide variant Early myoclonic encephalopathy [RCV001319441] Chr7:120741555 [GRCh38]
Chr7:120381609 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.325C>A (p.His109Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001373283] Chr7:120274957 [GRCh38]
Chr7:119915011 [GRCh37]
Chr7:7q31.31		 uncertain significance
NC_000007.13:g.(?_120381568)_(120386101_?)del deletion Early myoclonic encephalopathy [RCV001374195] Chr7:120381568..120386101 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1329T>C (p.Ala443=) single nucleotide variant Early myoclonic encephalopathy [RCV001397582] Chr7:120741584 [GRCh38]
Chr7:120381638 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1304C>T (p.Ala435Val) single nucleotide variant Early myoclonic encephalopathy [RCV001346708] Chr7:120741559 [GRCh38]
Chr7:120381613 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.188C>T (p.Pro63Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001342288] Chr7:120274820 [GRCh38]
Chr7:119914874 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1532G>A (p.Arg511His) single nucleotide variant Early myoclonic encephalopathy [RCV001294419] Chr7:120745844 [GRCh38]
Chr7:120385898 [GRCh37]
Chr7:7q31.31		 uncertain significance
NC_000007.13:g.(?_119914667)_(119915821_?)dup duplication Early myoclonic encephalopathy [RCV001296199] Chr7:119914667..119915821 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1804A>G (p.Thr602Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001318963] Chr7:120747769 [GRCh38]
Chr7:120387823 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.359C>A (p.Ala120Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001347150] Chr7:120274991 [GRCh38]
Chr7:119915045 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.76C>T (p.Pro26Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001305817] Chr7:120274708 [GRCh38]
Chr7:119914762 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1673C>T (p.Thr558Met) single nucleotide variant Early myoclonic encephalopathy [RCV001359009] Chr7:120745985 [GRCh38]
Chr7:120386039 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.573G>A (p.Thr191=) single nucleotide variant Early myoclonic encephalopathy [RCV001371228] Chr7:120275205 [GRCh38]
Chr7:119915259 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.130G>A (p.Val44Met) single nucleotide variant Early myoclonic encephalopathy [RCV001325581] Chr7:120274762 [GRCh38]
Chr7:119914816 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.249T>C (p.Tyr83=) single nucleotide variant Early myoclonic encephalopathy [RCV001422110] Chr7:120274881 [GRCh38]
Chr7:119914935 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) copy number loss Global developmental delay [RCV001352642] Chr7:116297277..126370694 [GRCh37]
Chr7:7q31.2-31.33		 pathogenic
NM_012281.3(KCND2):c.1773T>C (p.Pro591=) single nucleotide variant Early myoclonic encephalopathy [RCV001458635] Chr7:120747738 [GRCh38]
Chr7:120387792 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.750A>G (p.Ala250=) single nucleotide variant Early myoclonic encephalopathy [RCV001471116] Chr7:120275382 [GRCh38]
Chr7:119915436 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.624G>A (p.Pro208=) single nucleotide variant Early myoclonic encephalopathy [RCV001448731] Chr7:120275256 [GRCh38]
Chr7:119915310 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1254A>G (p.Arg418=) single nucleotide variant Early myoclonic encephalopathy [RCV001441385] Chr7:120733041 [GRCh38]
Chr7:120373095 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.603G>T (p.Ala201=) single nucleotide variant Early myoclonic encephalopathy [RCV001410135] Chr7:120275235 [GRCh38]
Chr7:119915289 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.990G>A (p.Ser330=) single nucleotide variant Early myoclonic encephalopathy [RCV001431097] Chr7:120275622 [GRCh38]
Chr7:119915676 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.975C>T (p.Gly325=) single nucleotide variant Early myoclonic encephalopathy [RCV001405647] Chr7:120275607 [GRCh38]
Chr7:119915661 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1116-134A>G single nucleotide variant not provided [RCV001645151] Chr7:120732769 [GRCh38]
Chr7:120372823 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.48T>C (p.Ala16=) single nucleotide variant Early myoclonic encephalopathy [RCV001473775] Chr7:120274680 [GRCh38]
Chr7:119914734 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1704T>G (p.Pro568=) single nucleotide variant Early myoclonic encephalopathy [RCV001486440] Chr7:120746016 [GRCh38]
Chr7:120386070 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1053T>A (p.Ala351=) single nucleotide variant Early myoclonic encephalopathy [RCV001460629] Chr7:120275685 [GRCh38]
Chr7:119915739 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1494C>T (p.Val498=) single nucleotide variant Early myoclonic encephalopathy [RCV001419036] Chr7:120745806 [GRCh38]
Chr7:120385860 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1209G>A (p.Pro403=) single nucleotide variant Early myoclonic encephalopathy [RCV001426995] Chr7:120732996 [GRCh38]
Chr7:120373050 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1320C>T (p.Ser440=) single nucleotide variant Early myoclonic encephalopathy [RCV001469470] Chr7:120741575 [GRCh38]
Chr7:120381629 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1715+8A>G single nucleotide variant Early myoclonic encephalopathy [RCV001505107] Chr7:120746035 [GRCh38]
Chr7:120386089 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1173G>A (p.Ser391=) single nucleotide variant Early myoclonic encephalopathy [RCV001398003]|KCND2-related condition [RCV003963273] Chr7:120732960 [GRCh38]
Chr7:120373014 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.405G>A (p.Glu135=) single nucleotide variant Early myoclonic encephalopathy [RCV001489648] Chr7:120275037 [GRCh38]
Chr7:119915091 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.585T>C (p.Ile195=) single nucleotide variant Early myoclonic encephalopathy [RCV001435697] Chr7:120275217 [GRCh38]
Chr7:119915271 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.997A>G (p.Met333Val) single nucleotide variant Early myoclonic encephalopathy [RCV002300571]|not provided [RCV001728135] Chr7:120275629 [GRCh38]
Chr7:119915683 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1878_1879del (p.Arg626fs) microsatellite not provided [RCV001763176] Chr7:120747841..120747842 [GRCh38]
Chr7:120387895..120387896 [GRCh37]
Chr7:7q31.31		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012281.3(KCND2):c.19G>A (p.Ala7Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001950414] Chr7:120274651 [GRCh38]
Chr7:119914705 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.508A>G (p.Arg170Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002043119] Chr7:120275140 [GRCh38]
Chr7:119915194 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q31.31(chr7:120011679-120200064)x1 copy number loss not provided [RCV001834158] Chr7:120011679..120200064 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1215T>G (p.Ile405Met) single nucleotide variant Early myoclonic encephalopathy [RCV002005184] Chr7:120733002 [GRCh38]
Chr7:120373056 [GRCh37]
Chr7:7q31.31		 likely pathogenic
NM_012281.3(KCND2):c.1417A>G (p.Ser473Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002042358] Chr7:120742552 [GRCh38]
Chr7:120382606 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1315G>A (p.Gly439Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001891808] Chr7:120741570 [GRCh38]
Chr7:120381624 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.631T>A (p.Ser211Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001908855] Chr7:120275263 [GRCh38]
Chr7:119915317 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q31.31(chr7:120330665-120481519) copy number gain not specified [RCV002053720] Chr7:120330665..120481519 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1814T>C (p.Val605Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001968465] Chr7:120747779 [GRCh38]
Chr7:120387833 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1033G>A (p.Ala345Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002044351] Chr7:120275665 [GRCh38]
Chr7:119915719 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1587C>G (p.Cys529Trp) single nucleotide variant Early myoclonic encephalopathy [RCV002040884] Chr7:120745899 [GRCh38]
Chr7:120385953 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.511G>A (p.Val171Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001913875] Chr7:120275143 [GRCh38]
Chr7:119915197 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.913C>T (p.Arg305Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001949358] Chr7:120275545 [GRCh38]
Chr7:119915599 [GRCh37]
Chr7:7q31.31		 pathogenic
GRCh37/hg19 7q31.31(chr7:120268066-120869197) copy number gain not specified [RCV002053719] Chr7:120268066..120869197 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1049C>T (p.Ser350Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001872369] Chr7:120275681 [GRCh38]
Chr7:119915735 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1		 pathogenic
NM_012281.3(KCND2):c.481G>C (p.Ala161Pro) single nucleotide variant Early myoclonic encephalopathy [RCV002001207] Chr7:120275113 [GRCh38]
Chr7:119915167 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1517T>G (p.Val506Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001959804] Chr7:120745829 [GRCh38]
Chr7:120385883 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1358T>C (p.Leu453Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001880498] Chr7:120741613 [GRCh38]
Chr7:120381667 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.455C>T (p.Ala152Val) single nucleotide variant Early myoclonic encephalopathy [RCV001962598] Chr7:120275087 [GRCh38]
Chr7:119915141 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1564CAA[1] (p.Gln523del) microsatellite Early myoclonic encephalopathy [RCV001930292] Chr7:120745875..120745877 [GRCh38]
Chr7:120385929..120385931 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1746G>C (p.Glu582Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001989233] Chr7:120747711 [GRCh38]
Chr7:120387765 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1547G>A (p.Ser516Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002037432] Chr7:120745859 [GRCh38]
Chr7:120385913 [GRCh37]
Chr7:7q31.31		 uncertain significance
NC_000007.13:g.(?_119914687)_(120496817_?)del deletion Early myoclonic encephalopathy [RCV001943031] Chr7:119914687..120496817 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1374+3A>G single nucleotide variant Early myoclonic encephalopathy [RCV001899014] Chr7:120741632 [GRCh38]
Chr7:120381686 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.159G>C (p.Gln53His) single nucleotide variant Early myoclonic encephalopathy [RCV002047993] Chr7:120274791 [GRCh38]
Chr7:119914845 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.845A>G (p.Asn282Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002030888] Chr7:120275477 [GRCh38]
Chr7:119915531 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1873G>T (p.Val625Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001919513]|Inborn genetic diseases [RCV003355657] Chr7:120747838 [GRCh38]
Chr7:120387892 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1024dup (p.Met342fs) duplication Early myoclonic encephalopathy [RCV001994076] Chr7:120275655..120275656 [GRCh38]
Chr7:119915709..119915710 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.17C>A (p.Ala6Glu) single nucleotide variant Early myoclonic encephalopathy [RCV002046099] Chr7:120274649 [GRCh38]
Chr7:119914703 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.648T>A (p.Ile216=) single nucleotide variant Early myoclonic encephalopathy [RCV001936031]|not provided [RCV003228026] Chr7:120275280 [GRCh38]
Chr7:119915334 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.278G>A (p.Arg93His) single nucleotide variant Early myoclonic encephalopathy [RCV001974891] Chr7:120274910 [GRCh38]
Chr7:119914964 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.757A>T (p.Ser253Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001921622] Chr7:120275389 [GRCh38]
Chr7:119915443 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.204C>T (p.Gly68=) single nucleotide variant Early myoclonic encephalopathy [RCV002030523] Chr7:120274836 [GRCh38]
Chr7:119914890 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.931C>T (p.Arg311Cys) single nucleotide variant Early myoclonic encephalopathy [RCV002011571] Chr7:120275563 [GRCh38]
Chr7:119915617 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1652G>T (p.Gly551Val) single nucleotide variant Early myoclonic encephalopathy [RCV001976715] Chr7:120745964 [GRCh38]
Chr7:120386018 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.271A>G (p.Ile91Val) single nucleotide variant Early myoclonic encephalopathy [RCV001923443] Chr7:120274903 [GRCh38]
Chr7:119914957 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1817C>T (p.Thr606Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001938632] Chr7:120747782 [GRCh38]
Chr7:120387836 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1449C>A (p.His483Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002012298] Chr7:120742584 [GRCh38]
Chr7:120382638 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1375-2A>C single nucleotide variant Early myoclonic encephalopathy [RCV001978051] Chr7:120742508 [GRCh38]
Chr7:120382562 [GRCh37]
Chr7:7q31.31		 uncertain significance
NC_000007.13:g.(?_119914687)_(119915821_?)dup duplication Early myoclonic encephalopathy [RCV001922904] Chr7:119914687..119915821 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1144G>A (p.Ala382Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002050120] Chr7:120732931 [GRCh38]
Chr7:120372985 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.647T>C (p.Ile216Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001982091] Chr7:120275279 [GRCh38]
Chr7:119915333 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1615C>T (p.Arg539Cys) single nucleotide variant Early myoclonic encephalopathy [RCV002048854] Chr7:120745927 [GRCh38]
Chr7:120385981 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.302C>A (p.Thr101Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001885730] Chr7:120274934 [GRCh38]
Chr7:119914988 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.962C>T (p.Ala321Val) single nucleotide variant Early myoclonic encephalopathy [RCV001959372] Chr7:120275594 [GRCh38]
Chr7:119915648 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1666C>T (p.Leu556Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001996767] Chr7:120745978 [GRCh38]
Chr7:120386032 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1702C>A (p.Pro568Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002015230] Chr7:120746014 [GRCh38]
Chr7:120386068 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.17C>G (p.Ala6Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001930418] Chr7:120274649 [GRCh38]
Chr7:119914703 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1014C>T (p.Phe338=) single nucleotide variant Early myoclonic encephalopathy [RCV002126341] Chr7:120275646 [GRCh38]
Chr7:119915700 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.366T>C (p.Phe122=) single nucleotide variant Early myoclonic encephalopathy [RCV002085577] Chr7:120274998 [GRCh38]
Chr7:119915052 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1116-11C>A single nucleotide variant Early myoclonic encephalopathy [RCV002091068] Chr7:120732892 [GRCh38]
Chr7:120372946 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1278+17G>A single nucleotide variant Early myoclonic encephalopathy [RCV002112312] Chr7:120733082 [GRCh38]
Chr7:120373136 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1716-8del deletion Early myoclonic encephalopathy [RCV002127364] Chr7:120747665 [GRCh38]
Chr7:120387719 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1833C>T (p.Asp611=) single nucleotide variant Early myoclonic encephalopathy [RCV002170148] Chr7:120747798 [GRCh38]
Chr7:120387852 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.384C>A (p.Ile128=) single nucleotide variant Early myoclonic encephalopathy [RCV002146257] Chr7:120275016 [GRCh38]
Chr7:119915070 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.27G>T (p.Leu9=) single nucleotide variant Early myoclonic encephalopathy [RCV002105955] Chr7:120274659 [GRCh38]
Chr7:119914713 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1278+16C>T single nucleotide variant Early myoclonic encephalopathy [RCV002186739] Chr7:120733081 [GRCh38]
Chr7:120373135 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1468-14C>T single nucleotide variant Early myoclonic encephalopathy [RCV002135327] Chr7:120745766 [GRCh38]
Chr7:120385820 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.273C>T (p.Ile91=) single nucleotide variant Early myoclonic encephalopathy [RCV002195050] Chr7:120274905 [GRCh38]
Chr7:119914959 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1278+19G>A single nucleotide variant Early myoclonic encephalopathy [RCV002080385] Chr7:120733084 [GRCh38]
Chr7:120373138 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1716-7C>G single nucleotide variant Early myoclonic encephalopathy [RCV002196519] Chr7:120747674 [GRCh38]
Chr7:120387728 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.795C>T (p.Ile265=) single nucleotide variant Early myoclonic encephalopathy [RCV002135067]|not provided [RCV003426332] Chr7:120275427 [GRCh38]
Chr7:119915481 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1116-16T>A single nucleotide variant Early myoclonic encephalopathy [RCV002115805]|not specified [RCV003479407] Chr7:120732887 [GRCh38]
Chr7:120372941 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1068C>T (p.Ser356=) single nucleotide variant Early myoclonic encephalopathy [RCV002112747] Chr7:120275700 [GRCh38]
Chr7:119915754 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1715+16C>T single nucleotide variant Early myoclonic encephalopathy [RCV002112784] Chr7:120746043 [GRCh38]
Chr7:120386097 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.927C>A (p.Gly309=) single nucleotide variant Early myoclonic encephalopathy [RCV002131040] Chr7:120275559 [GRCh38]
Chr7:119915613 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.321T>C (p.Pro107=) single nucleotide variant Early myoclonic encephalopathy [RCV002085008] Chr7:120274953 [GRCh38]
Chr7:119915007 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.234A>C (p.Pro78=) single nucleotide variant Early myoclonic encephalopathy [RCV002133442] Chr7:120274866 [GRCh38]
Chr7:119914920 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.468C>T (p.Thr156=) single nucleotide variant Early myoclonic encephalopathy [RCV002080467] Chr7:120275100 [GRCh38]
Chr7:119915154 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.742C>T (p.Leu248=) single nucleotide variant Early myoclonic encephalopathy [RCV002128588] Chr7:120275374 [GRCh38]
Chr7:119915428 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1278+7A>G single nucleotide variant Early myoclonic encephalopathy [RCV002114979] Chr7:120733072 [GRCh38]
Chr7:120373126 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.27G>C (p.Leu9=) single nucleotide variant Early myoclonic encephalopathy [RCV002181174] Chr7:120274659 [GRCh38]
Chr7:119914713 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1182G>A (p.Gly394=) single nucleotide variant Early myoclonic encephalopathy [RCV002219335] Chr7:120732969 [GRCh38]
Chr7:120373023 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1279-4A>G single nucleotide variant Early myoclonic encephalopathy [RCV002199018] Chr7:120741530 [GRCh38]
Chr7:120381584 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1468-13A>G single nucleotide variant Early myoclonic encephalopathy [RCV002164797] Chr7:120745767 [GRCh38]
Chr7:120385821 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.336C>A (p.Ile112=) single nucleotide variant Early myoclonic encephalopathy [RCV002216452] Chr7:120274968 [GRCh38]
Chr7:119915022 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.930G>A (p.Leu310=) single nucleotide variant Early myoclonic encephalopathy [RCV002182869] Chr7:120275562 [GRCh38]
Chr7:119915616 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.122C>T (p.Ala41Val) single nucleotide variant Early myoclonic encephalopathy [RCV002083664] Chr7:120274754 [GRCh38]
Chr7:119914808 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.469G>A (p.Ala157Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002200432]|Inborn genetic diseases [RCV002561619] Chr7:120275101 [GRCh38]
Chr7:119915155 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1824A>G (p.Pro608=) single nucleotide variant Early myoclonic encephalopathy [RCV002100909] Chr7:120747789 [GRCh38]
Chr7:120387843 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.705C>A (p.Ala235=) single nucleotide variant Early myoclonic encephalopathy [RCV002180368] Chr7:120275337 [GRCh38]
Chr7:119915391 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1374+18del deletion Early myoclonic encephalopathy [RCV002216534] Chr7:120741647 [GRCh38]
Chr7:120381701 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1674G>A (p.Thr558=) single nucleotide variant Early myoclonic encephalopathy [RCV002103326] Chr7:120745986 [GRCh38]
Chr7:120386040 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1788A>G (p.Ala596=) single nucleotide variant Early myoclonic encephalopathy [RCV002176154] Chr7:120747753 [GRCh38]
Chr7:120387807 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1635A>G (p.Val545=) single nucleotide variant Early myoclonic encephalopathy [RCV002217551] Chr7:120745947 [GRCh38]
Chr7:120386001 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1164T>A (p.Ser388=) single nucleotide variant Early myoclonic encephalopathy [RCV002155952] Chr7:120732951 [GRCh38]
Chr7:120373005 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1116-14T>A single nucleotide variant Early myoclonic encephalopathy [RCV002220596] Chr7:120732889 [GRCh38]
Chr7:120372943 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1227C>T (p.Phe409=) single nucleotide variant Early myoclonic encephalopathy [RCV002183270] Chr7:120733014 [GRCh38]
Chr7:120373068 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1116-8T>C single nucleotide variant Early myoclonic encephalopathy [RCV002217569] Chr7:120732895 [GRCh38]
Chr7:120372949 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.939G>C (p.Leu313=) single nucleotide variant Early myoclonic encephalopathy [RCV002201570] Chr7:120275571 [GRCh38]
Chr7:119915625 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1116-18A>T single nucleotide variant Early myoclonic encephalopathy [RCV002158995] Chr7:120732885 [GRCh38]
Chr7:120372939 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1797C>T (p.Ser599=) single nucleotide variant Early myoclonic encephalopathy [RCV003118198] Chr7:120747762 [GRCh38]
Chr7:120387816 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.576G>A (p.Gly192=) single nucleotide variant Early myoclonic encephalopathy [RCV003117118] Chr7:120275208 [GRCh38]
Chr7:119915262 [GRCh37]
Chr7:7q31.31		 likely benign
NC_000007.13:g.(?_120387715)_(120428971_?)dup duplication Early myoclonic encephalopathy [RCV003116581] Chr7:120387715..120428971 [GRCh37]
Chr7:7q31.31		 uncertain significance
NC_000007.13:g.(?_120372937)_(120386101_?)dup duplication Early myoclonic encephalopathy [RCV003116582] Chr7:120372937..120386101 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.458A>T (p.Asp153Val) single nucleotide variant Early myoclonic encephalopathy [RCV003112863] Chr7:120275090 [GRCh38]
Chr7:119915144 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1873G>A (p.Val625Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003118530] Chr7:120747838 [GRCh38]
Chr7:120387892 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.236A>C (p.Glu79Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003118603] Chr7:120274868 [GRCh38]
Chr7:119914922 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1473C>G (p.His491Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003121695] Chr7:120745785 [GRCh38]
Chr7:120385839 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.685_686delinsGC (p.Phe229Ala) indel not provided [RCV003152123] Chr7:120275317..120275318 [GRCh38]
Chr7:119915371..119915372 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1834G>A (p.Asp612Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003093982]|not specified [RCV002247916] Chr7:120747799 [GRCh38]
Chr7:120387853 [GRCh37]
Chr7:7q31.31		 uncertain significance
Single allele deletion Delayed speech and language development [RCV002251690] Chr7:114888786..124720929 [GRCh37]
Chr7:7q31.2-31.33		 likely pathogenic
NM_012281.3(KCND2):c.536A>G (p.His179Arg) single nucleotide variant not provided [RCV002275744] Chr7:120275168 [GRCh38]
Chr7:119915222 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1204G>C (p.Val402Leu) single nucleotide variant not provided [RCV002292652] Chr7:120732991 [GRCh38]
Chr7:120373045 [GRCh37]
Chr7:7q31.31		 likely pathogenic
NM_012281.3(KCND2):c.1833C>A (p.Asp611Glu) single nucleotide variant KCND2-associated neurodevelopmental syndrome [RCV002266634] Chr7:120747798 [GRCh38]
Chr7:120387852 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_012281.3(KCND2):c.1411G>A (p.Gly471Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003497989]|Inborn genetic diseases [RCV003263262] Chr7:120742546 [GRCh38]
Chr7:120382600 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1567C>A (p.Gln523Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002303811] Chr7:120745879 [GRCh38]
Chr7:120385933 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1295G>T (p.Arg432Met) single nucleotide variant not provided [RCV002469537] Chr7:120741550 [GRCh38]
Chr7:120381604 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.688T>A (p.Phe230Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002299640] Chr7:120275320 [GRCh38]
Chr7:119915374 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.4G>T (p.Ala2Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002299345] Chr7:120274636 [GRCh38]
Chr7:119914690 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.568G>C (p.Val190Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002299702] Chr7:120275200 [GRCh38]
Chr7:119915254 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1345C>G (p.Arg449Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002302105] Chr7:120741600 [GRCh38]
Chr7:120381654 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.229C>T (p.His77Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003015960] Chr7:120274861 [GRCh38]
Chr7:119914915 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1115+13A>C single nucleotide variant Early myoclonic encephalopathy [RCV002617265] Chr7:120275760 [GRCh38]
Chr7:119915814 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1096G>T (p.Val366Phe) single nucleotide variant Early myoclonic encephalopathy [RCV002816426] Chr7:120275728 [GRCh38]
Chr7:119915782 [GRCh37]
Chr7:7q31.31		 pathogenic
NM_012281.3(KCND2):c.1862G>C (p.Gly621Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003073998] Chr7:120747827 [GRCh38]
Chr7:120387881 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1493T>A (p.Val498Asp) single nucleotide variant Early myoclonic encephalopathy [RCV002903218] Chr7:120745805 [GRCh38]
Chr7:120385859 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1056C>T (p.Ser352=) single nucleotide variant Early myoclonic encephalopathy [RCV002730882] Chr7:120275688 [GRCh38]
Chr7:119915742 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1616G>T (p.Arg539Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003076712] Chr7:120745928 [GRCh38]
Chr7:120385982 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1782T>C (p.Thr594=) single nucleotide variant Early myoclonic encephalopathy [RCV002734892] Chr7:120747747 [GRCh38]
Chr7:120387801 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1375-10T>G single nucleotide variant Early myoclonic encephalopathy [RCV002820146] Chr7:120742500 [GRCh38]
Chr7:120382554 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1631A>G (p.Asn544Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002908942] Chr7:120745943 [GRCh38]
Chr7:120385997 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.343T>G (p.Tyr115Asp) single nucleotide variant not provided [RCV002461802] Chr7:120274975 [GRCh38]
Chr7:119915029 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.149C>T (p.Thr50Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002904612] Chr7:120274781 [GRCh38]
Chr7:119914835 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.215G>A (p.Arg72Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003074115] Chr7:120274847 [GRCh38]
Chr7:119914901 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.553C>T (p.Leu185=) single nucleotide variant Early myoclonic encephalopathy [RCV002858602] Chr7:120275185 [GRCh38]
Chr7:119915239 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.13G>A (p.Val5Met) single nucleotide variant Early myoclonic encephalopathy [RCV003777830]|Inborn genetic diseases [RCV002840828] Chr7:120274645 [GRCh38]
Chr7:119914699 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.588C>T (p.Ala196=) single nucleotide variant Early myoclonic encephalopathy [RCV002681270] Chr7:120275220 [GRCh38]
Chr7:119915274 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1769A>G (p.Gln590Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002996638] Chr7:120747734 [GRCh38]
Chr7:120387788 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1334T>C (p.Met445Thr) single nucleotide variant Inborn genetic diseases [RCV002689716] Chr7:120741589 [GRCh38]
Chr7:120381643 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.12G>T (p.Gly4=) single nucleotide variant Early myoclonic encephalopathy [RCV002952546] Chr7:120274644 [GRCh38]
Chr7:119914698 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.788G>C (p.Ser263Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002825273] Chr7:120275420 [GRCh38]
Chr7:119915474 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.393C>G (p.Asp131Glu) single nucleotide variant not provided [RCV002510188] Chr7:120275025 [GRCh38]
Chr7:119915079 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1595G>A (p.Arg532Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002662607] Chr7:120745907 [GRCh38]
Chr7:120385961 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1281A>G (p.Lys427=) single nucleotide variant Early myoclonic encephalopathy [RCV002889908] Chr7:120741536 [GRCh38]
Chr7:120381590 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.954G>A (p.Lys318=) single nucleotide variant Early myoclonic encephalopathy [RCV003002955] Chr7:120275586 [GRCh38]
Chr7:119915640 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.993C>A (p.Leu331=) single nucleotide variant Early myoclonic encephalopathy [RCV002695296] Chr7:120275625 [GRCh38]
Chr7:119915679 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1715+1G>C single nucleotide variant Early myoclonic encephalopathy [RCV002867987] Chr7:120746028 [GRCh38]
Chr7:120386082 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.174C>T (p.Thr58=) single nucleotide variant Early myoclonic encephalopathy [RCV002760279] Chr7:120274806 [GRCh38]
Chr7:119914860 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1609dup (p.Thr537fs) duplication Early myoclonic encephalopathy [RCV003035955] Chr7:120745914..120745915 [GRCh38]
Chr7:120385968..120385969 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.734T>C (p.Leu245Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002824514] Chr7:120275366 [GRCh38]
Chr7:119915420 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.692_694del (p.Cys231del) deletion Early myoclonic encephalopathy [RCV002847460] Chr7:120275322..120275324 [GRCh38]
Chr7:119915376..119915378 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1116-17T>C single nucleotide variant Early myoclonic encephalopathy [RCV002848094] Chr7:120732886 [GRCh38]
Chr7:120372940 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1375-3C>G single nucleotide variant Early myoclonic encephalopathy [RCV002820517] Chr7:120742507 [GRCh38]
Chr7:120382561 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1468-16T>C single nucleotide variant Early myoclonic encephalopathy [RCV002848341] Chr7:120745764 [GRCh38]
Chr7:120385818 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.566A>G (p.Tyr189Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003054471] Chr7:120275198 [GRCh38]
Chr7:119915252 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.839C>G (p.Thr280Arg) single nucleotide variant Inborn genetic diseases [RCV002870416] Chr7:120275471 [GRCh38]
Chr7:119915525 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.852_861del (p.Asp284fs) deletion Early myoclonic encephalopathy [RCV002801258] Chr7:120275481..120275490 [GRCh38]
Chr7:119915535..119915544 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1836T>C (p.Asp612=) single nucleotide variant Early myoclonic encephalopathy [RCV002624799] Chr7:120747801 [GRCh38]
Chr7:120387855 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.667G>T (p.Glu223Ter) single nucleotide variant Early myoclonic encephalopathy [RCV002890176] Chr7:120275299 [GRCh38]
Chr7:119915353 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1341C>A (p.Ser447Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002929002] Chr7:120741596 [GRCh38]
Chr7:120381650 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.688T>G (p.Phe230Val) single nucleotide variant Early myoclonic encephalopathy [RCV002574474] Chr7:120275320 [GRCh38]
Chr7:119915374 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1167C>T (p.Ile389=) single nucleotide variant Early myoclonic encephalopathy [RCV003005509] Chr7:120732954 [GRCh38]
Chr7:120373008 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.726T>G (p.Val242=) single nucleotide variant Early myoclonic encephalopathy [RCV002985655] Chr7:120275358 [GRCh38]
Chr7:119915412 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1516G>T (p.Val506Phe) single nucleotide variant Early myoclonic encephalopathy [RCV002829556] Chr7:120745828 [GRCh38]
Chr7:120385882 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1044G>C (p.Gly348=) single nucleotide variant Early myoclonic encephalopathy [RCV002574263] Chr7:120275676 [GRCh38]
Chr7:119915730 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.95G>A (p.Arg32Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002851201] Chr7:120274727 [GRCh38]
Chr7:119914781 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1716-6T>C single nucleotide variant Early myoclonic encephalopathy [RCV003091926] Chr7:120747675 [GRCh38]
Chr7:120387729 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.244C>T (p.Gln82Ter) single nucleotide variant Early myoclonic encephalopathy [RCV003030037] Chr7:120274876 [GRCh38]
Chr7:119914930 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1370T>C (p.Leu457Pro) single nucleotide variant Early myoclonic encephalopathy [RCV002967084] Chr7:120741625 [GRCh38]
Chr7:120381679 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1245G>A (p.Gln415=) single nucleotide variant Early myoclonic encephalopathy [RCV002900565] Chr7:120733032 [GRCh38]
Chr7:120373086 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1279-10dup duplication Early myoclonic encephalopathy [RCV003088840] Chr7:120741518..120741519 [GRCh38]
Chr7:120381572..120381573 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1716-14T>G single nucleotide variant Early myoclonic encephalopathy [RCV003009879] Chr7:120747667 [GRCh38]
Chr7:120387721 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.915C>G (p.Arg305=) single nucleotide variant Early myoclonic encephalopathy [RCV002628581] Chr7:120275547 [GRCh38]
Chr7:119915601 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1604A>G (p.Lys535Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002834608] Chr7:120745916 [GRCh38]
Chr7:120385970 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1745A>G (p.Glu582Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002581250] Chr7:120747710 [GRCh38]
Chr7:120387764 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1893A>G (p.Ter631=) single nucleotide variant Early myoclonic encephalopathy [RCV002631273] Chr7:120747858 [GRCh38]
Chr7:120387912 [GRCh37]
Chr7:7q31.31		 likely benign|uncertain significance
NM_012281.3(KCND2):c.582C>T (p.Phe194=) single nucleotide variant Early myoclonic encephalopathy [RCV002899266] Chr7:120275214 [GRCh38]
Chr7:119915268 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1531C>A (p.Arg511Ser) single nucleotide variant Inborn genetic diseases [RCV002792396] Chr7:120745843 [GRCh38]
Chr7:120385897 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1474G>A (p.Glu492Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003028370] Chr7:120745786 [GRCh38]
Chr7:120385840 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1071C>T (p.Ile357=) single nucleotide variant Early myoclonic encephalopathy [RCV002670871] Chr7:120275703 [GRCh38]
Chr7:119915757 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.338C>G (p.Ser113Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003046955] Chr7:120274970 [GRCh38]
Chr7:119915024 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.20C>A (p.Ala7Glu) single nucleotide variant Early myoclonic encephalopathy [RCV002580935] Chr7:120274652 [GRCh38]
Chr7:119914706 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1195G>T (p.Ala399Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002834263] Chr7:120732982 [GRCh38]
Chr7:120373036 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1448A>T (p.His483Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002603153] Chr7:120742583 [GRCh38]
Chr7:120382637 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1278+13C>T single nucleotide variant Early myoclonic encephalopathy [RCV003071505] Chr7:120733078 [GRCh38]
Chr7:120373132 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.440G>A (p.Arg147His) single nucleotide variant Early myoclonic encephalopathy [RCV002633463] Chr7:120275072 [GRCh38]
Chr7:119915126 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.451G>A (p.Asp151Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002590000] Chr7:120275083 [GRCh38]
Chr7:119915137 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.725T>C (p.Val242Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003072230] Chr7:120275357 [GRCh38]
Chr7:119915411 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1050G>A (p.Ser350=) single nucleotide variant Early myoclonic encephalopathy [RCV003070718] Chr7:120275682 [GRCh38]
Chr7:119915736 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1253G>A (p.Arg418Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003068978] Chr7:120733040 [GRCh38]
Chr7:120373094 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.589G>T (p.Val197Phe) single nucleotide variant Inborn genetic diseases [RCV003193914] Chr7:120275221 [GRCh38]
Chr7:119915275 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.628G>A (p.Gly210Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003600452]|not provided [RCV003229131] Chr7:120275260 [GRCh38]
Chr7:119915314 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.650A>G (p.Lys217Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003779685]|Inborn genetic diseases [RCV003198655] Chr7:120275282 [GRCh38]
Chr7:119915336 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1669A>C (p.Ser557Arg) single nucleotide variant Inborn genetic diseases [RCV003193748] Chr7:120745981 [GRCh38]
Chr7:120386035 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1108A>G (p.Thr370Ala) single nucleotide variant not provided [RCV003441662] Chr7:120275740 [GRCh38]
Chr7:119915794 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1467G>T (p.Thr489=) single nucleotide variant not provided [RCV003443282] Chr7:120742602 [GRCh38]
Chr7:120382656 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1086G>A (p.Trp362Ter) single nucleotide variant Early myoclonic encephalopathy [RCV003601361] Chr7:120275718 [GRCh38]
Chr7:119915772 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.169G>A (p.Asp57Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003601278] Chr7:120274801 [GRCh38]
Chr7:119914855 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.105G>A (p.Arg35=) single nucleotide variant Early myoclonic encephalopathy [RCV003601586] Chr7:120274737 [GRCh38]
Chr7:119914791 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.774G>C (p.Val258=) single nucleotide variant Early myoclonic encephalopathy [RCV003601618] Chr7:120275406 [GRCh38]
Chr7:119915460 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.438G>A (p.Glu146=) single nucleotide variant Early myoclonic encephalopathy [RCV003600091] Chr7:120275070 [GRCh38]
Chr7:119915124 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.69C>T (p.Ala23=) single nucleotide variant Early myoclonic encephalopathy [RCV003600482] Chr7:120274701 [GRCh38]
Chr7:119914755 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.406G>A (p.Glu136Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003601641] Chr7:120275038 [GRCh38]
Chr7:119915092 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1613T>C (p.Phe538Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003825812] Chr7:120745925 [GRCh38]
Chr7:120385979 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1314C>A (p.Ser438Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003602256] Chr7:120741569 [GRCh38]
Chr7:120381623 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1279-19T>A single nucleotide variant Early myoclonic encephalopathy [RCV003602420] Chr7:120741515 [GRCh38]
Chr7:120381569 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1797C>G (p.Ser599Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003599908] Chr7:120747762 [GRCh38]
Chr7:120387816 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1456G>A (p.Glu486Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003599975] Chr7:120742591 [GRCh38]
Chr7:120382645 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.259C>T (p.Arg87Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003831321] Chr7:120274891 [GRCh38]
Chr7:119914945 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.104G>A (p.Arg35Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003602207] Chr7:120274736 [GRCh38]
Chr7:119914790 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.388G>C (p.Gly130Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003601484] Chr7:120275020 [GRCh38]
Chr7:119915074 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1535C>T (p.Pro512Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003601639] Chr7:120745847 [GRCh38]
Chr7:120385901 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.852C>T (p.Asp284=) single nucleotide variant Early myoclonic encephalopathy [RCV003601059] Chr7:120275484 [GRCh38]
Chr7:119915538 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1301G>A (p.Arg434Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003600473] Chr7:120741556 [GRCh38]
Chr7:120381610 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.450C>A (p.Asp150Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003601228] Chr7:120275082 [GRCh38]
Chr7:119915136 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.627C>T (p.Cys209=) single nucleotide variant Early myoclonic encephalopathy [RCV003600577] Chr7:120275259 [GRCh38]
Chr7:119915313 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1172C>T (p.Ser391Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003600024] Chr7:120732959 [GRCh38]
Chr7:120373013 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.458A>G (p.Asp153Gly) single nucleotide variant Early myoclonic encephalopathy [RCV003601293] Chr7:120275090 [GRCh38]
Chr7:119915144 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1346G>A (p.Arg449Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003601250] Chr7:120741601 [GRCh38]
Chr7:120381655 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.433G>A (p.Ala145Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003878674] Chr7:120275065 [GRCh38]
Chr7:119915119 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1432C>A (p.His478Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003600773] Chr7:120742567 [GRCh38]
Chr7:120382621 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.14T>G (p.Val5Gly) single nucleotide variant Early myoclonic encephalopathy [RCV003600229] Chr7:120274646 [GRCh38]
Chr7:119914700 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1528A>T (p.Asn510Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003601665] Chr7:120745840 [GRCh38]
Chr7:120385894 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.533C>G (p.Pro178Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003602365] Chr7:120275165 [GRCh38]
Chr7:119915219 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1862G>A (p.Gly621Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003602126] Chr7:120747827 [GRCh38]
Chr7:120387881 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1340_1341delinsAA (p.Ser447Lys) indel Early myoclonic encephalopathy [RCV003602388] Chr7:120741595..120741596 [GRCh38]
Chr7:120381649..120381650 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1248T>A (p.Asn416Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003601626] Chr7:120733035 [GRCh38]
Chr7:120373089 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1459A>C (p.Lys487Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003599953] Chr7:120742594 [GRCh38]
Chr7:120382648 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.403G>T (p.Glu135Ter) single nucleotide variant Early myoclonic encephalopathy [RCV003599974] Chr7:120275035 [GRCh38]
Chr7:119915089 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1577C>G (p.Thr526Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003602443] Chr7:120745889 [GRCh38]
Chr7:120385943 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1053T>C (p.Ala351=) single nucleotide variant Early myoclonic encephalopathy [RCV003600993] Chr7:120275685 [GRCh38]
Chr7:119915739 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1375-7T>G single nucleotide variant Early myoclonic encephalopathy [RCV003599928] Chr7:120742503 [GRCh38]
Chr7:120382557 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.670C>T (p.Arg224Trp) single nucleotide variant Early myoclonic encephalopathy [RCV003600605] Chr7:120275302 [GRCh38]
Chr7:119915356 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.689T>C (p.Phe230Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003602497] Chr7:120275321 [GRCh38]
Chr7:119915375 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.361_362delinsGC (p.Phe121Ala) indel Early myoclonic encephalopathy [RCV003601125] Chr7:120274993..120274994 [GRCh38]
Chr7:119915047..119915048 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.639A>C (p.Pro213=) single nucleotide variant Early myoclonic encephalopathy [RCV003601544] Chr7:120275271 [GRCh38]
Chr7:119915325 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1044G>A (p.Gly348=) single nucleotide variant Early myoclonic encephalopathy [RCV003600560] Chr7:120275676 [GRCh38]
Chr7:119915730 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1486G>A (p.Glu496Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003600706] Chr7:120745798 [GRCh38]
Chr7:120385852 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1116-16T>G single nucleotide variant Early myoclonic encephalopathy [RCV003601474] Chr7:120732887 [GRCh38]
Chr7:120372941 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.213G>A (p.Glu71=) single nucleotide variant Early myoclonic encephalopathy [RCV003601558] Chr7:120274845 [GRCh38]
Chr7:119914899 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1174C>T (p.Leu392=) single nucleotide variant Early myoclonic encephalopathy [RCV003876671] Chr7:120732961 [GRCh38]
Chr7:120373015 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1374+15A>C single nucleotide variant Early myoclonic encephalopathy [RCV003498917] Chr7:120741644 [GRCh38]
Chr7:120381698 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.666A>C (p.Gly222=) single nucleotide variant Early myoclonic encephalopathy [RCV003498840] Chr7:120275298 [GRCh38]
Chr7:119915352 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.174C>G (p.Thr58=) single nucleotide variant Early myoclonic encephalopathy [RCV003497413] Chr7:120274806 [GRCh38]
Chr7:119914860 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.1375-14C>G single nucleotide variant Early myoclonic encephalopathy [RCV003497515] Chr7:120742496 [GRCh38]
Chr7:120382550 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.903T>A (p.Phe301Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003498939] Chr7:120275535 [GRCh38]
Chr7:119915589 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1505G>A (p.Ser502Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003497417] Chr7:120745817 [GRCh38]
Chr7:120385871 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1279-6C>T single nucleotide variant Early myoclonic encephalopathy [RCV003499372] Chr7:120741528 [GRCh38]
Chr7:120381582 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.949C>G (p.Leu317Val) single nucleotide variant Early myoclonic encephalopathy [RCV003498791] Chr7:120275581 [GRCh38]
Chr7:119915635 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1597C>T (p.Arg533Ter) single nucleotide variant Early myoclonic encephalopathy [RCV003499329] Chr7:120745909 [GRCh38]
Chr7:120385963 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1402A>T (p.Ser468Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003499340] Chr7:120742537 [GRCh38]
Chr7:120382591 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.499_500delinsAG (p.Ala167Arg) indel Early myoclonic encephalopathy [RCV003499371] Chr7:120275131..120275132 [GRCh38]
Chr7:119915185..119915186 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1464C>T (p.Thr488=) single nucleotide variant Early myoclonic encephalopathy [RCV003499121] Chr7:120742599 [GRCh38]
Chr7:120382653 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.752C>T (p.Ala251Val) single nucleotide variant Early myoclonic encephalopathy [RCV003498115] Chr7:120275384 [GRCh38]
Chr7:119915438 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1078G>A (p.Ala360Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003498597] Chr7:120275710 [GRCh38]
Chr7:119915764 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1803A>G (p.Pro601=) single nucleotide variant Early myoclonic encephalopathy [RCV003499092] Chr7:120747768 [GRCh38]
Chr7:120387822 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.268G>C (p.Asp90His) single nucleotide variant Early myoclonic encephalopathy [RCV003499779] Chr7:120274900 [GRCh38]
Chr7:119914954 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.16G>A (p.Ala6Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003498837] Chr7:120274648 [GRCh38]
Chr7:119914702 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1738A>G (p.Met580Val) single nucleotide variant Early myoclonic encephalopathy [RCV003499816] Chr7:120747703 [GRCh38]
Chr7:120387757 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1716-8dup duplication Early myoclonic encephalopathy [RCV003811925] Chr7:120747664..120747665 [GRCh38]
Chr7:120387718..120387719 [GRCh37]
Chr7:7q31.31		 benign
NM_012281.3(KCND2):c.1194T>C (p.Ile398=) single nucleotide variant Early myoclonic encephalopathy [RCV003498897] Chr7:120732981 [GRCh38]
Chr7:120373035 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.83C>T (p.Pro28Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003499437] Chr7:120274715 [GRCh38]
Chr7:119914769 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.39G>A (p.Arg13=) single nucleotide variant Early myoclonic encephalopathy [RCV003499720] Chr7:120274671 [GRCh38]
Chr7:119914725 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.776G>A (p.Arg259His) single nucleotide variant Early myoclonic encephalopathy [RCV003820271] Chr7:120275408 [GRCh38]
Chr7:119915462 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.279C>T (p.Arg93=) single nucleotide variant Early myoclonic encephalopathy [RCV003843823] Chr7:120274911 [GRCh38]
Chr7:119914965 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.69C>G (p.Ala23=) single nucleotide variant Early myoclonic encephalopathy [RCV003865521] Chr7:120274701 [GRCh38]
Chr7:119914755 [GRCh37]
Chr7:7q31.31		 likely benign
NM_012281.3(KCND2):c.696G>A (p.Leu232=) single nucleotide variant Early myoclonic encephalopathy [RCV003819033] Chr7:120275328 [GRCh38]
Chr7:119915382 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7q31.31(chr7:118934871-120311025)x1 copy number loss not provided [RCV003482981] Chr7:118934871..120311025 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_012281.3(KCND2):c.1616G>A (p.Arg539His) single nucleotide variant Early myoclonic encephalopathy [RCV000635175] Chr7:120745928 [GRCh38]
Chr7:120385982 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012281.3(KCND2):c.1184T>C (p.Val395Ala) single nucleotide variant not provided [RCV001754825] Chr7:120732971 [GRCh38]
Chr7:120373025 [GRCh37]
Chr7:7q31.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1127
Count of miRNA genes:644
Interacting mature miRNAs:748
Transcripts:ENST00000331113, ENST00000425288, ENST00000473190
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D7S2487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377119,955,662 - 119,955,914UniSTSGRCh37
GRCh377119,955,591 - 119,955,777UniSTSGRCh37
Build 367119,742,898 - 119,743,150RGDNCBI36
Celera7114,765,176 - 114,765,424RGD
Celera7114,765,105 - 114,765,291UniSTS
Cytogenetic Map7q31UniSTS
HuRef7114,318,899 - 114,319,139UniSTS
HuRef7114,318,828 - 114,319,014UniSTS
CRA_TCAGchr7v27119,350,761 - 119,351,009UniSTS
CRA_TCAGchr7v27119,350,690 - 119,350,876UniSTS
Marshfield Genetic Map7125.15RGD
Marshfield Genetic Map7125.15UniSTS
Genethon Genetic Map7126.4UniSTS
TNG Radiation Hybrid Map753337.0UniSTS
GDB:1317200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,195,678 - 120,195,801UniSTSGRCh37
Build 367119,982,914 - 119,983,037RGDNCBI36
Celera7115,005,181 - 115,005,304RGD
Cytogenetic Map7q31UniSTS
HuRef7114,558,724 - 114,558,847UniSTS
CRA_TCAGchr7v27119,590,751 - 119,590,874UniSTS
G31102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,087,280 - 120,087,425UniSTSGRCh37
Build 367119,874,516 - 119,874,661RGDNCBI36
Celera7114,896,782 - 114,896,927RGD
Cytogenetic Map7q31UniSTS
HuRef7114,450,331 - 114,450,476UniSTS
CRA_TCAGchr7v27119,482,356 - 119,482,501UniSTS
RH75415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,600,145 - 27,600,342UniSTSGRCh37
Build 36227,453,649 - 27,453,846RGDNCBI36
Celera227,446,811 - 27,447,008RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map7q31UniSTS
HuRef227,342,148 - 27,342,345UniSTS
HuRef7114,541,806 - 114,542,003UniSTS
SHGC-81435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,266,064 - 120,266,366UniSTSGRCh37
Build 367120,053,300 - 120,053,602RGDNCBI36
Celera7115,075,583 - 115,075,885RGD
Cytogenetic Map7q31UniSTS
HuRef7114,629,142 - 114,629,444UniSTS
CRA_TCAGchr7v27119,661,151 - 119,661,453UniSTS
TNG Radiation Hybrid Map753547.0UniSTS
G49386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,087,249 - 120,087,301UniSTSGRCh37
Build 367119,874,485 - 119,874,537RGDNCBI36
Celera7114,896,751 - 114,896,803RGD
Cytogenetic Map7q31UniSTS
HuRef7114,450,300 - 114,450,352UniSTS
CRA_TCAGchr7v27119,482,325 - 119,482,377UniSTS
RH118760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,254,663 - 120,255,003UniSTSGRCh37
Build 367120,041,899 - 120,042,239RGDNCBI36
Celera7115,064,182 - 115,064,522RGD
Cytogenetic Map7q31UniSTS
HuRef7114,617,741 - 114,618,081UniSTS
CRA_TCAGchr7v27119,649,750 - 119,650,090UniSTS
TNG Radiation Hybrid Map753529.0UniSTS
G63116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,136,966 - 120,137,277UniSTSGRCh37
Build 367119,924,202 - 119,924,513RGDNCBI36
Celera7114,946,473 - 114,946,784RGD
Cytogenetic Map7q31UniSTS
HuRef7114,500,014 - 114,500,325UniSTS
CRA_TCAGchr7v27119,532,043 - 119,532,354UniSTS
TNG Radiation Hybrid Map753428.0UniSTS
SHGC-112257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,183,826 - 120,184,109UniSTSGRCh37
Build 367119,971,062 - 119,971,345RGDNCBI36
Celera7114,993,329 - 114,993,612RGD
Cytogenetic Map7q31UniSTS
HuRef7114,546,872 - 114,547,155UniSTS
CRA_TCAGchr7v27119,578,899 - 119,579,182UniSTS
TNG Radiation Hybrid Map753481.0UniSTS
GDB:3755049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,131,587 - 120,131,666UniSTSGRCh37
Build 367119,918,823 - 119,918,902RGDNCBI36
Celera7114,941,094 - 114,941,173RGD
Cytogenetic Map7q31UniSTS
HuRef7114,494,635 - 114,494,714UniSTS
CRA_TCAGchr7v27119,526,663 - 119,526,742UniSTS
KCND2_881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,389,549 - 120,390,431UniSTSGRCh37
Build 367120,176,785 - 120,177,667RGDNCBI36
Celera7115,199,064 - 115,199,946RGD
HuRef7114,752,722 - 114,753,604UniSTS
CRA_TCAGchr7v27119,784,636 - 119,785,518UniSTS
D7S1915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,361,405 - 120,361,505UniSTSGRCh37
Build 367120,148,641 - 120,148,741RGDNCBI36
Celera7115,170,920 - 115,171,020RGD
Cytogenetic Map7q31UniSTS
HuRef7114,724,638 - 114,724,738UniSTS
CRA_TCAGchr7v27119,756,492 - 119,756,592UniSTS
D7S2892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377119,986,288 - 119,986,573UniSTSGRCh37
Build 367119,773,524 - 119,773,809RGDNCBI36
Celera7114,795,783 - 114,796,068RGD
Cytogenetic Map7q31UniSTS
HuRef7114,349,423 - 114,349,708UniSTS
CRA_TCAGchr7v27119,381,355 - 119,381,640UniSTS
TNG Radiation Hybrid Map753348.0UniSTS
Stanford-G3 RH Map75834.0UniSTS
NCBI RH Map71114.5UniSTS
D7S1652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,186,217 - 120,186,361UniSTSGRCh37
Build 367119,973,453 - 119,973,597RGDNCBI36
Celera7114,995,720 - 114,995,864RGD
Cytogenetic Map7q31UniSTS
HuRef7114,549,263 - 114,549,407UniSTS
CRA_TCAGchr7v27119,581,290 - 119,581,434UniSTS
D7S99  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,277,405 - 120,277,697UniSTSGRCh37
Build 367120,064,641 - 120,064,933RGDNCBI36
Celera7115,086,924 - 115,087,216RGD
Cytogenetic Map7q31UniSTS
HuRef7114,640,482 - 114,640,774UniSTS
CRA_TCAGchr7v27119,672,492 - 119,672,784UniSTS
WI-19785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,600,207 - 27,600,344UniSTSGRCh37
GRCh377120,178,759 - 120,178,895UniSTSGRCh37
Build 36227,453,711 - 27,453,848RGDNCBI36
Celera7114,988,262 - 114,988,398UniSTS
Celera227,446,873 - 27,447,010RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2p23-p22UniSTS
HuRef7114,541,805 - 114,541,941UniSTS
HuRef227,342,210 - 27,342,347UniSTS
CRA_TCAGchr7v27119,573,832 - 119,573,968UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
Whitehead-RH Map2147.1UniSTS
NCBI RH Map2160.9UniSTS
WI-18408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,056,682 - 120,056,831UniSTSGRCh37
Build 367119,843,918 - 119,844,067RGDNCBI36
Celera7114,866,184 - 114,866,333RGD
Cytogenetic Map7q31UniSTS
HuRef7114,419,740 - 114,419,889UniSTS
CRA_TCAGchr7v27119,451,758 - 119,451,907UniSTS
GeneMap99-GB4 RH Map7556.47UniSTS
Whitehead-RH Map7502.5UniSTS
NCBI RH Map71114.5UniSTS
D7S1436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,378,312 - 120,378,486UniSTSGRCh37
Build 367120,165,548 - 120,165,722RGDNCBI36
Celera7115,187,827 - 115,188,001RGD
Cytogenetic Map7q31UniSTS
HuRef7114,741,485 - 114,741,659UniSTS
CRA_TCAGchr7v27119,773,399 - 119,773,573UniSTS
A004D07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,087,241 - 120,087,349UniSTSGRCh37
Build 367119,874,477 - 119,874,585RGDNCBI36
Celera7114,896,743 - 114,896,851RGD
Cytogenetic Map7q31UniSTS
HuRef7114,450,292 - 114,450,400UniSTS
CRA_TCAGchr7v27119,482,317 - 119,482,425UniSTS
GeneMap99-GB4 RH Map7555.44UniSTS
NCBI RH Map71114.5UniSTS
GDB:6028511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,349,728 - 120,349,827UniSTSGRCh37
Build 367120,136,964 - 120,137,063RGDNCBI36
Celera7115,159,243 - 115,159,342RGD
Cytogenetic Map7q31UniSTS
HuRef7114,712,801 - 114,712,900UniSTS
CRA_TCAGchr7v27119,744,815 - 119,744,914UniSTS
D7S2093E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,087,214 - 120,087,333UniSTSGRCh37
Build 367119,874,450 - 119,874,569RGDNCBI36
Celera7114,896,716 - 114,896,835RGD
Cytogenetic Map7q31UniSTS
HuRef7114,450,265 - 114,450,384UniSTS
CRA_TCAGchr7v27119,482,290 - 119,482,409UniSTS
TNG Radiation Hybrid Map753396.0UniSTS
Stanford-G3 RH Map75850.0UniSTS
NCBI RH Map71114.5UniSTS
GeneMap99-G3 RH Map75850.0UniSTS
MDB1071  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef7114,753,352 - 114,753,508UniSTS
D7S2487  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q31UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 4 1 174 1 43 2 898 3 72 44 1
Low 832 305 828 74 279 45 1160 489 2163 88 956 675 33 903 404 1
Below cutoff 1446 2037 738 433 721 303 3010 1587 609 173 330 787 131 301 2333 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF121104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF142568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331113   ⟹   ENSP00000333496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,273,175 - 120,750,337 (+)Ensembl
RefSeq Acc Id: ENST00000425288   ⟹   ENSP00000415463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,740,844 - 120,747,738 (+)Ensembl
RefSeq Acc Id: ENST00000473190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,742,321 - 120,747,722 (+)Ensembl
RefSeq Acc Id: NM_012281   ⟹   NP_036413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,273,175 - 120,750,337 (+)NCBI
GRCh377119,913,689 - 120,390,387 (+)NCBI
Build 367119,700,958 - 120,177,623 (+)NCBI Archive
HuRef7114,276,961 - 114,753,560 (+)ENTREZGENE
CHM1_17119,847,044 - 120,323,690 (+)NCBI
T2T-CHM13v2.07121,588,571 - 122,065,688 (+)NCBI
CRA_TCAGchr7v27119,308,832 - 119,785,474 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047420346   ⟹   XP_047276302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,272,908 - 120,750,337 (+)NCBI
RefSeq Acc Id: XM_054358166   ⟹   XP_054214141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07121,573,495 - 122,065,688 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036413   ⟸   NM_012281
- Peptide Label: precursor
- UniProtKB: Q9UN98 (UniProtKB/Swiss-Prot),   Q9UBY7 (UniProtKB/Swiss-Prot),   Q2TBD3 (UniProtKB/Swiss-Prot),   O95021 (UniProtKB/Swiss-Prot),   O95012 (UniProtKB/Swiss-Prot),   Q9UNH9 (UniProtKB/Swiss-Prot),   Q9NZV8 (UniProtKB/Swiss-Prot),   A4D0V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000333496   ⟸   ENST00000331113
RefSeq Acc Id: ENSP00000415463   ⟸   ENST00000425288
RefSeq Acc Id: XP_047276302   ⟸   XM_047420346
- Peptide Label: isoform X1
- UniProtKB: Q9UN98 (UniProtKB/Swiss-Prot),   Q9UBY7 (UniProtKB/Swiss-Prot),   Q9NZV8 (UniProtKB/Swiss-Prot),   Q2TBD3 (UniProtKB/Swiss-Prot),   O95021 (UniProtKB/Swiss-Prot),   O95012 (UniProtKB/Swiss-Prot),   Q9UNH9 (UniProtKB/Swiss-Prot),   A4D0V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214141   ⟸   XM_054358166
- Peptide Label: isoform X1
- UniProtKB: Q9UN98 (UniProtKB/Swiss-Prot),   Q9UBY7 (UniProtKB/Swiss-Prot),   Q9NZV8 (UniProtKB/Swiss-Prot),   Q2TBD3 (UniProtKB/Swiss-Prot),   O95021 (UniProtKB/Swiss-Prot),   O95012 (UniProtKB/Swiss-Prot),   Q9UNH9 (UniProtKB/Swiss-Prot),   A4D0V9 (UniProtKB/TrEMBL)
Protein Domains
BTB   Potassium channel voltage dependent Kv4 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZV8-F1-model_v2 AlphaFold Q9NZV8 1-630 view protein structure

Promoters
RGD ID:6805836
Promoter ID:HG_KWN:59460
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_012281
Position:
Human AssemblyChrPosition (strand)Source
Build 367119,700,166 - 119,701,127 (+)MPROMDB
RGD ID:7211777
Promoter ID:EPDNEW_H11634
Type:initiation region
Name:KCND2_1
Description:potassium voltage-gated channel subfamily D member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11635  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,273,536 - 120,273,596EPDNEW
RGD ID:7211791
Promoter ID:EPDNEW_H11635
Type:initiation region
Name:KCND2_2
Description:potassium voltage-gated channel subfamily D member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11634  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,273,721 - 120,273,781EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6238 AgrOrtholog
COSMIC KCND2 COSMIC
Ensembl Genes ENSG00000184408 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331113 ENTREZGENE
  ENST00000331113.9 UniProtKB/Swiss-Prot
  ENST00000425288.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184408 GTEx
HGNC ID HGNC:6238 ENTREZGENE
Human Proteome Map KCND2 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv4.2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Shal-type_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3751 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3751 ENTREZGENE
OMIM 605410 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY D MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF3399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Shal-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30030 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KV42CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHALCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D0V9 ENTREZGENE, UniProtKB/TrEMBL
  H7C445_HUMAN UniProtKB/TrEMBL
  KCND2_HUMAN UniProtKB/Swiss-Prot
  O95012 ENTREZGENE
  O95021 ENTREZGENE
  Q2TBD3 ENTREZGENE
  Q75LS7_HUMAN UniProtKB/TrEMBL
  Q9NZV8 ENTREZGENE
  Q9UBY7 ENTREZGENE
  Q9UN98 ENTREZGENE
  Q9UNH9 ENTREZGENE
UniProt Secondary O95012 UniProtKB/Swiss-Prot
  O95021 UniProtKB/Swiss-Prot
  Q2TBD3 UniProtKB/Swiss-Prot
  Q9UBY7 UniProtKB/Swiss-Prot
  Q9UN98 UniProtKB/Swiss-Prot
  Q9UNH9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCND2  potassium voltage-gated channel subfamily D member 2  KCND2  potassium channel, voltage gated Shal related subfamily D, member 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCND2  potassium channel, voltage gated Shal related subfamily D, member 2  KCND2  potassium voltage-gated channel, Shal-related subfamily, member 2  Symbol and/or name change 5135510 APPROVED