KCNB1 (potassium voltage-gated channel subfamily B member 1) - Rat Genome Database

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Gene: KCNB1 (potassium voltage-gated channel subfamily B member 1) Homo sapiens
Analyze
Symbol: KCNB1
Name: potassium voltage-gated channel subfamily B member 1
RGD ID: 732211
HGNC Page HGNC:6231
Description: Enables delayed rectifier potassium channel activity and transmembrane transporter binding activity. Involved in action potential; positive regulation of protein targeting to membrane; and potassium ion transmembrane transport. Located in plasma membrane. Part of voltage-gated potassium channel complex. Implicated in developmental and epileptic encephalopathy 26 and epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE26; delayed rectifier potassium channel 1; delayed rectifier potassium channel Kv2.1; DRK1; EIEE26; h-DRK1; h-DRK1 K(+) channel; KV2.1; potassium channel protein DRK1; potassium channel, voltage gated Shab related subfamily B, member 1; potassium voltage-gated channel, Shab-related subfamily, member 1; voltage-gated potassium channel subunit Kv2.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382049,363,877 - 49,483,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2049,293,394 - 49,484,297 (-)EnsemblGRCh38hg38GRCh38
GRCh372047,980,414 - 48,099,205 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362047,421,912 - 47,532,588 (-)NCBINCBI36Build 36hg18NCBI36
Build 342047,421,911 - 47,532,588NCBI
Celera2044,693,122 - 44,803,814 (-)NCBICelera
Cytogenetic Map20q13.13NCBI
HuRef2044,737,067 - 44,847,754 (-)NCBIHuRef
CHM1_12047,892,894 - 48,003,606 (-)NCBICHM1_1
T2T-CHM13v2.02051,133,489 - 51,253,649 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(5Z,8Z,11Z,13E)-15-HETE  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
amphotericin B  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
dichlorine  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
ethanol  (ISO)
ferrostatin-1  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
lead diacetate  (EXP)
Licochalcone B  (EXP)
medroxyprogesterone acetate  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
monocrotaline  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rotenone  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
scopolamine  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sulfadimethoxine  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Brain atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Focal impaired awareness seizure  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonic absence seizure  (IAGP)
Myoclonus  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypical hand wringing  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Bar C, etal., Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21.
2. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. de Kovel CGF, etal., JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.
3. Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy. Fletcher EV, etal., Nat Neurosci. 2017 Jul;20(7):905-916. doi: 10.1038/nn.4561. Epub 2017 May 15.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant. Hawkins NA, etal., Neurobiol Dis. 2021 Jan;147:105141. doi: 10.1016/j.nbd.2020.105141. Epub 2020 Oct 22.
6. Voltage-dependent K(+) channels in pancreatic beta cells: role, regulation and potential as therapeutic targets. MacDonald PE and Wheeler MB, Diabetologia. 2003 Aug;46(8):1046-62. Epub 2003 Jun 27.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Redistribution of Kv2.1 ion channels on spinal motoneurons following peripheral nerve injury. Romer SH, etal., Brain Res. 2014 Feb 14;1547:1-15. doi: 10.1016/j.brainres.2013.12.012. Epub 2013 Dec 16.
11. Deletion of the Kv2.1 delayed rectifier potassium channel leads to neuronal and behavioral hyperexcitability. Speca DJ, etal., Genes Brain Behav. 2014 Apr;13(4):394-408. doi: 10.1111/gbb.12120. Epub 2014 Mar 7.
Additional References at PubMed
PMID:1283219   PMID:7774931   PMID:8081723   PMID:8670833   PMID:8980147   PMID:9362476   PMID:10484328   PMID:10551266   PMID:10921884   PMID:11780052   PMID:11852086   PMID:12021261  
PMID:12060745   PMID:12403834   PMID:12477932   PMID:12560340   PMID:12615930   PMID:14702039   PMID:15024041   PMID:15353504   PMID:15518587   PMID:15827117   PMID:16008572   PMID:16382104  
PMID:16880266   PMID:18212012   PMID:18615577   PMID:18690023   PMID:19074135   PMID:19223394   PMID:19265782   PMID:19454037   PMID:19717445   PMID:19953087   PMID:20379614   PMID:20547671  
PMID:20566856   PMID:20709754   PMID:21095721   PMID:21455829   PMID:21873635   PMID:22106938   PMID:22411134   PMID:22442077   PMID:22560931   PMID:23251661   PMID:23431371   PMID:24086760  
PMID:24597762   PMID:24667918   PMID:25056061   PMID:25164438   PMID:25908859   PMID:26240432   PMID:26242757   PMID:26303499   PMID:26377690   PMID:26393286   PMID:26477325   PMID:26487174  
PMID:26503721   PMID:26505474   PMID:26922553   PMID:28144039   PMID:28373283   PMID:28607108   PMID:28768770   PMID:29379118   PMID:29941597   PMID:30021884   PMID:30900190   PMID:30922570  
PMID:31513310   PMID:31663850   PMID:31682765   PMID:32120844   PMID:32484056   PMID:33124732   PMID:33172410   PMID:33267786   PMID:33407994   PMID:33607466   PMID:34137443   PMID:34312846  
PMID:34535971   PMID:34857952   PMID:34915430   PMID:35231557   PMID:36688959   PMID:37758949   PMID:39201645  


Genomics

Comparative Map Data
KCNB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382049,363,877 - 49,483,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2049,293,394 - 49,484,297 (-)EnsemblGRCh38hg38GRCh38
GRCh372047,980,414 - 48,099,205 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362047,421,912 - 47,532,588 (-)NCBINCBI36Build 36hg18NCBI36
Build 342047,421,911 - 47,532,588NCBI
Celera2044,693,122 - 44,803,814 (-)NCBICelera
Cytogenetic Map20q13.13NCBI
HuRef2044,737,067 - 44,847,754 (-)NCBIHuRef
CHM1_12047,892,894 - 48,003,606 (-)NCBICHM1_1
T2T-CHM13v2.02051,133,489 - 51,253,649 (-)NCBIT2T-CHM13v2.0
Kcnb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392166,937,889 - 167,032,088 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2166,937,889 - 167,032,075 (-)EnsemblGRCm39 Ensembl
GRCm382167,095,969 - 167,190,072 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2167,095,969 - 167,190,155 (-)EnsemblGRCm38mm10GRCm38
MGSCv372166,928,878 - 167,014,299 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362166,794,583 - 166,880,004 (-)NCBIMGSCv36mm8
Celera2173,043,474 - 173,128,977 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map287.22NCBI
Kcnb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83176,239,285 - 176,332,408 (-)NCBIGRCr8
mRatBN7.23155,820,255 - 155,913,383 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3155,822,963 - 155,916,194 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3159,621,853 - 159,714,946 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03168,120,826 - 168,213,919 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03165,862,536 - 165,955,629 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03163,850,785 - 163,935,610 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3163,850,785 - 163,935,617 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03170,010,756 - 170,094,507 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43158,250,001 - 158,345,927 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13158,156,036 - 158,248,459 (-)NCBI
Celera3154,408,682 - 154,493,576 (-)NCBICelera
RH 3.4 Map31476.0RGD
Cytogenetic Map3q42NCBI
Kcnb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554458,680,965 - 8,774,110 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554458,680,979 - 8,779,662 (+)NCBIChiLan1.0ChiLan1.0
KCNB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22155,039,862 - 55,225,053 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12055,032,968 - 55,218,159 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02045,636,371 - 45,821,536 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12046,761,428 - 46,885,521 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2046,776,274 - 46,885,521 (-)Ensemblpanpan1.1panPan2
KCNB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12436,016,800 - 36,118,873 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2436,025,472 - 36,117,934 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2435,259,329 - 35,359,756 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02436,721,821 - 36,822,593 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2436,729,609 - 36,823,404 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12435,962,506 - 36,063,208 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02436,096,677 - 36,197,268 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02436,638,300 - 36,739,394 (-)NCBIUU_Cfam_GSD_1.0
Kcnb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640189,373,582 - 189,447,939 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365144,827,127 - 4,900,707 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365144,827,156 - 4,902,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1751,039,987 - 51,142,644 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11751,032,163 - 51,152,566 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21757,354,303 - 57,464,782 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1214,510,176 - 14,623,054 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl214,510,464 - 14,619,023 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605062,995,224 - 63,111,025 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247905,902,077 - 6,003,591 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247905,901,809 - 6,007,847 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNB1
682 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004975.4(KCNB1):c.567+3G>A single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000556531]|not provided [RCV001755902] Chr20:49481911 [GRCh38]
Chr20:48098448 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) single nucleotide variant not provided [RCV000521815] Chr20:49374565 [GRCh38]
Chr20:47991102 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000541797] Chr20:49373833 [GRCh38]
Chr20:47990370 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1898G>A (p.Ser633Asn) single nucleotide variant not provided [RCV000523260] Chr20:49373662 [GRCh38]
Chr20:47990199 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1144G>C (p.Asp382His) single nucleotide variant not provided [RCV000523290] Chr20:49374416 [GRCh38]
Chr20:47990953 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.410A>T (p.Tyr137Phe) single nucleotide variant not provided [RCV001507471] Chr20:49482071 [GRCh38]
Chr20:48098608 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.513G>A (p.Lys171=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000550942]|not provided [RCV003992325] Chr20:49481968 [GRCh38]
Chr20:48098505 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000656399]|Epileptic encephalopathy [RCV000782162]|Intellectual disability [RCV001255320] Chr20:49374377 [GRCh38]
Chr20:47990914 [GRCh37]
Chr20:20q13.13		 likely pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.937C>T (p.His313Tyr) single nucleotide variant Inborn genetic diseases [RCV002528252]|not provided [RCV000519170] Chr20:49374623 [GRCh38]
Chr20:47991160 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2091C>G (p.Asn697Lys) single nucleotide variant not provided [RCV000522104] Chr20:49373469 [GRCh38]
Chr20:47990006 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000557112]|Epileptic encephalopathy [RCV000782152]|not provided [RCV004721440] Chr20:49374519 [GRCh38]
Chr20:47991056 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000548517]|not provided [RCV001672864] Chr20:49374172 [GRCh38]
Chr20:47990709 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001472370] Chr20:49374353 [GRCh38]
Chr20:47990890 [GRCh37]
Chr20:20q13.13		 likely benign
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_004975.2(KCNB1):c.2291G>A (p.Gly764Glu) single nucleotide variant Malignant melanoma [RCV000072681] Chr20:49373269 [GRCh38]
Chr20:47989806 [GRCh37]
Chr20:47423213 [NCBI36]
Chr20:20q13.13		 not provided
NM_004975.2(KCNB1):c.2290G>A (p.Gly764Arg) single nucleotide variant Malignant melanoma [RCV000072682] Chr20:49373270 [GRCh38]
Chr20:47989807 [GRCh37]
Chr20:47423214 [NCBI36]
Chr20:20q13.13		 not provided
NM_004975.2(KCNB1):c.2203C>T (p.Pro735Ser) single nucleotide variant Malignant melanoma [RCV000072683] Chr20:49373357 [GRCh38]
Chr20:47989894 [GRCh37]
Chr20:47423301 [NCBI36]
Chr20:20q13.13		 not provided
NM_004975.2(KCNB1):c.159C>T (p.Pro53=) single nucleotide variant Malignant melanoma [RCV000063765] Chr20:49482322 [GRCh38]
Chr20:48098859 [GRCh37]
Chr20:47532266 [NCBI36]
Chr20:20q13.13		 not provided
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000144689]|Inborn genetic diseases [RCV001266628]|Neurodevelopmental delay [RCV002273960]|not provided [RCV003320441] Chr20:49374519 [GRCh38]
Chr20:47991056 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|not provided
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000144690]|not provided [RCV000444433] Chr20:49374439 [GRCh38]
Chr20:47990976 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000144691]|not provided [RCV003322739] Chr20:49374425 [GRCh38]
Chr20:47990962 [GRCh37]
Chr20:20q13.13		 pathogenic|not provided
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001294363] Chr20:49374806 [GRCh38]
Chr20:47991343 [GRCh37]
Chr20:20q13.13		 uncertain significance
GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3 copy number gain See cases [RCV000135367] Chr20:49098782..49465707 [GRCh38]
Chr20:47715319..48082244 [GRCh37]
Chr20:47148726..47515651 [NCBI36]
Chr20:20q13.13		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3 copy number gain See cases [RCV000139593] Chr20:48756586..49532355 [GRCh38]
Chr20:47373123..48148892 [GRCh37]
Chr20:46806530..47582299 [NCBI36]
Chr20:20q13.13		 uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1 copy number loss See cases [RCV000167570] Chr20:47682662..49884981 [GRCh37]
Chr20:20q13.13-13.2		 likely pathogenic
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000528443]|Inborn genetic diseases [RCV001267282]|Intellectual disability [RCV000782147]|not provided [RCV000255550] Chr20:49374626 [GRCh38]
Chr20:47991163 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000559563]|not specified [RCV000612907] Chr20:49373044 [GRCh38]
Chr20:47989581 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000799571]|not provided [RCV000519199] Chr20:49374370 [GRCh38]
Chr20:47990907 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.820dup (p.Tyr274fs) duplication not provided [RCV000275163] Chr20:49374739..49374740 [GRCh38]
Chr20:47991276..47991277 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg) single nucleotide variant KCNB1-related disorder [RCV004725135]|not provided [RCV000289518] Chr20:49374452 [GRCh38]
Chr20:47990989 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1573_1587dup (p.Asn525_Leu529dup) duplication not provided [RCV000489237] Chr20:49373972..49373973 [GRCh38]
Chr20:47990509..47990510 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001088590]|KCNB1-related disorder [RCV004541534]|not provided [RCV000487902] Chr20:49373236 [GRCh38]
Chr20:47989773 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.114G>T (p.Gly38=) single nucleotide variant not provided [RCV001718995] Chr20:49482367 [GRCh38]
Chr20:48098904 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000768242] Chr20:49374294 [GRCh38]
Chr20:47990831 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.661delinsAT (p.Gly221fs) indel not provided [RCV000598646] Chr20:49374899 [GRCh38]
Chr20:47991436 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs) microsatellite not provided [RCV000599466] Chr20:49374245..49374246 [GRCh38]
Chr20:47990782..47990783 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000529855] Chr20:49373360 [GRCh38]
Chr20:47989897 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000699040]|not provided [RCV000413312] Chr20:49374652 [GRCh38]
Chr20:47991189 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001851000]|not specified [RCV000413687] Chr20:49373149 [GRCh38]
Chr20:47989686 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.-13G>A single nucleotide variant not specified [RCV000437718] Chr20:49482493 [GRCh38]
Chr20:48099030 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001496344]|not specified [RCV000441380] Chr20:49482070 [GRCh38]
Chr20:48098607 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652435]|not provided [RCV001093362]|not specified [RCV000420870] Chr20:49374255 [GRCh38]
Chr20:47990792 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002063409]|not specified [RCV000434723] Chr20:49373310 [GRCh38]
Chr20:47989847 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652434]|KCNB1-related disorder [RCV004533067]|not provided [RCV001704326] Chr20:49373424 [GRCh38]
Chr20:47989961 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.568-18A>G single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002059571]|not specified [RCV000438160] Chr20:49375010 [GRCh38]
Chr20:47991547 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652425]|Inborn genetic diseases [RCV004022363]|KCNB1-related disorder [RCV004533013]|not provided [RCV001720164] Chr20:49373984 [GRCh38]
Chr20:47990521 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.855C>T (p.Ser285=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002058978]|not specified [RCV000431801] Chr20:49374705 [GRCh38]
Chr20:47991242 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.568-9T>C single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000921845]|not specified [RCV000438300] Chr20:49375001 [GRCh38]
Chr20:47991538 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000547716]|not provided [RCV000712109]|not specified [RCV000418263] Chr20:49373723 [GRCh38]
Chr20:47990260 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000935557]|not provided [RCV001720246] Chr20:49373088 [GRCh38]
Chr20:47989625 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.938A>G (p.His313Arg) single nucleotide variant not provided [RCV000417762] Chr20:49374622 [GRCh38]
Chr20:47991159 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034480]|Seizure [RCV001255109]|not provided [RCV000421360] Chr20:49373118 [GRCh38]
Chr20:47989655 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652431]|not provided [RCV004717590]|not specified [RCV000424865] Chr20:49373226 [GRCh38]
Chr20:47989763 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001305148]|not provided [RCV000435306] Chr20:49373837 [GRCh38]
Chr20:47990374 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001467635]|not provided [RCV001698163] Chr20:49373184 [GRCh38]
Chr20:47989721 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.177G>A (p.Lys59=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652427]|not provided [RCV004567912]|not specified [RCV000421488] Chr20:49482304 [GRCh38]
Chr20:48098841 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000878155]|KCNB1-related disorder [RCV004735525]|not provided [RCV001704518] Chr20:49373196 [GRCh38]
Chr20:47989733 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001510393]|not provided [RCV003430992]|not specified [RCV000439180] Chr20:49481935 [GRCh38]
Chr20:48098472 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.-29C>G single nucleotide variant not specified [RCV000419018] Chr20:49482509 [GRCh38]
Chr20:48099046 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.-47G>A single nucleotide variant not provided [RCV004703962]|not specified [RCV000428913] Chr20:49482527 [GRCh38]
Chr20:48099064 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.39C>T (p.Thr13=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000543821]|not provided [RCV001698330] Chr20:49482442 [GRCh38]
Chr20:48098979 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2115C>T (p.Val705=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652429]|KCNB1-related disorder [RCV004735515]|not provided [RCV001697772] Chr20:49373445 [GRCh38]
Chr20:47989982 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.900C>A (p.Arg300=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002063583]|not provided [RCV001698356] Chr20:49374660 [GRCh38]
Chr20:47991197 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000560862]|not provided [RCV003437194]|not specified [RCV000419598] Chr20:49374264 [GRCh38]
Chr20:47990801 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000534631]|Inborn genetic diseases [RCV004022402]|KCNB1-related disorder [RCV004533052]|not provided [RCV001704291] Chr20:49374193 [GRCh38]
Chr20:47990730 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1821C>T (p.Ser607=) single nucleotide variant not specified [RCV000432698] Chr20:49373739 [GRCh38]
Chr20:47990276 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.198C>T (p.His66=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000541025]|not provided [RCV004717576]|not specified [RCV000422399] Chr20:49482283 [GRCh38]
Chr20:48098820 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000556086]|not provided [RCV003311810]|not specified [RCV000425857] Chr20:49373454 [GRCh38]
Chr20:47989991 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001247945]|Inborn genetic diseases [RCV004022512]|not provided [RCV001712313] Chr20:49373680 [GRCh38]
Chr20:47990217 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001082241]|not provided [RCV000712108]|not specified [RCV000436339] Chr20:49374378 [GRCh38]
Chr20:47990915 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002062356]|not specified [RCV000433111] Chr20:49373502 [GRCh38]
Chr20:47990039 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.*17G>A single nucleotide variant not specified [RCV000440123] Chr20:49372966 [GRCh38]
Chr20:47989503 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.630G>A (p.Thr210=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001409551]|not specified [RCV000429908] Chr20:49374930 [GRCh38]
Chr20:47991467 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000544909]|not provided [RCV000712111]|not specified [RCV000436736] Chr20:49373087 [GRCh38]
Chr20:47989624 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001316495]|not provided [RCV001696777] Chr20:49373867 [GRCh38]
Chr20:47990404 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000526010]|not provided [RCV000712110]|not specified [RCV000444175] Chr20:49373713 [GRCh38]
Chr20:47990250 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001861589]|not specified [RCV000423062] Chr20:49373505 [GRCh38]
Chr20:47990042 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000533612]|not provided [RCV000712112]|not specified [RCV000426573] Chr20:49372990 [GRCh38]
Chr20:47989527 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1788A>T (p.Thr596=) single nucleotide variant not provided [RCV000925794]|not specified [RCV000444261] Chr20:49373772 [GRCh38]
Chr20:47990309 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000555745]|Inborn genetic diseases [RCV003243123]|not provided [RCV001698159] Chr20:49373563 [GRCh38]
Chr20:47990100 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000877900]|KCNB1-related disorder [RCV004539820]|not provided [RCV001703728] Chr20:49373826 [GRCh38]
Chr20:47990363 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.568-20C>T single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002062572]|not specified [RCV000426926] Chr20:49375012 [GRCh38]
Chr20:47991549 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000906046]|not specified [RCV000427092] Chr20:49482430 [GRCh38]
Chr20:48098967 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000527045]|KCNB1-related disorder [RCV004533050]|not provided [RCV003437188]|not specified [RCV000437556] Chr20:49374171 [GRCh38]
Chr20:47990708 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys) single nucleotide variant not provided [RCV000441478] Chr20:49374503 [GRCh38]
Chr20:47991040 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000763447]|not provided [RCV000482147] Chr20:49374263 [GRCh38]
Chr20:47990800 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000477875]|not provided [RCV003320443] Chr20:49374955 [GRCh38]
Chr20:47991492 [GRCh37]
Chr20:20q13.13		 uncertain significance|not provided
NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala) single nucleotide variant not provided [RCV000483295] Chr20:49374295 [GRCh38]
Chr20:47990832 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000477903]|Early infantile epileptic encephalopathy with suppression bursts [RCV001249557]|not provided [RCV003320442] Chr20:49374407 [GRCh38]
Chr20:47990944 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|not provided
GRCh37/hg19 20q13.13(chr20:47427610-48085774)x3 copy number gain See cases [RCV000510231] Chr20:47427610..48085774 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.113G>C (p.Gly38Ala) single nucleotide variant not provided [RCV000498592] Chr20:49482368 [GRCh38]
Chr20:48098905 [GRCh37]
Chr20:20q13.13		 uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1 copy number loss See cases [RCV000511555] Chr20:47627844..52045480 [GRCh37]
Chr20:20q13.13-13.2		 pathogenic
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp) single nucleotide variant not provided [RCV000494002] Chr20:49374570 [GRCh38]
Chr20:47991107 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000697036]|not provided [RCV000494453] Chr20:49373168 [GRCh38]
Chr20:47989705 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000701236]|not provided [RCV000731272] Chr20:49373236 [GRCh38]
Chr20:47989773 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1 copy number loss See cases [RCV000511416] Chr20:47726521..50427649 [GRCh37]
Chr20:20q13.13-13.2		 likely pathogenic
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003766770]|not provided [RCV001696918] Chr20:49374962 [GRCh38]
Chr20:47991499 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_004975.4(KCNB1):c.702C>T (p.Ala234=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000549899] Chr20:49374858 [GRCh38]
Chr20:47991395 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.472C>A (p.Arg158=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000557652] Chr20:49482009 [GRCh38]
Chr20:48098546 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001403696] Chr20:49373511 [GRCh38]
Chr20:47990048 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002528653]|not specified [RCV000604826] Chr20:49374444 [GRCh38]
Chr20:47990981 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000535124] Chr20:49374982 [GRCh38]
Chr20:47991519 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.492T>C (p.Asp164=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000535907] Chr20:49481989 [GRCh38]
Chr20:48098526 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2450C>G (p.Thr817Arg) single nucleotide variant Inborn genetic diseases [RCV003271769] Chr20:49373110 [GRCh38]
Chr20:47989647 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) single nucleotide variant Inborn genetic diseases [RCV000622509] Chr20:49374572 [GRCh38]
Chr20:47991109 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000973076]|KCNB1-related disorder [RCV004530795]|not provided [RCV001697900] Chr20:49482106 [GRCh38]
Chr20:48098643 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000541096] Chr20:49373469 [GRCh38]
Chr20:47990006 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000960454]|KCNB1-related disorder [RCV004544779]|not provided [RCV003437322]|not specified [RCV000615935] Chr20:49374009 [GRCh38]
Chr20:47990546 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.939C>T (p.His313=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001422746]|not specified [RCV000613387] Chr20:49374621 [GRCh38]
Chr20:47991158 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001471652]|not provided [RCV003457726]|not specified [RCV000613454] Chr20:49482385 [GRCh38]
Chr20:48098922 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.711C>T (p.Ile237=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002529598]|not specified [RCV000608329] Chr20:49374849 [GRCh38]
Chr20:47991386 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.693C>T (p.His231=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001414476]|not provided [RCV001707792] Chr20:49374867 [GRCh38]
Chr20:47991404 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000952176]|not provided [RCV001719032] Chr20:49373040 [GRCh38]
Chr20:47989577 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748256]|not provided [RCV003884664]|not specified [RCV000608893] Chr20:49374747 [GRCh38]
Chr20:47991284 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.504C>T (p.Cys168=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001430064]|not specified [RCV000608896] Chr20:49481977 [GRCh38]
Chr20:48098514 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652423] Chr20:49373408 [GRCh38]
Chr20:47989945 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652424]|Inborn genetic diseases [RCV003352974]|KCNB1-related disorder [RCV000677403]|developmental encephalopathy with epilepsy [RCV001249559]|not provided [RCV001565799] Chr20:49374931 [GRCh38]
Chr20:47991468 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.568-5C>T single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001086301]|Inborn genetic diseases [RCV002534174]|not provided [RCV000652426] Chr20:49374997 [GRCh38]
Chr20:47991534 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) deletion Developmental and epileptic encephalopathy, 26 [RCV000652422] Chr20:49374472 [GRCh38]
Chr20:47991009 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652428] Chr20:49374489 [GRCh38]
Chr20:47991026 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652430] Chr20:49374393 [GRCh38]
Chr20:47990930 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001439045]|not provided [RCV000652432] Chr20:49373655 [GRCh38]
Chr20:47990192 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000652433]|not provided [RCV001683625] Chr20:49373197 [GRCh38]
Chr20:47989734 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.81G>A (p.Lys27=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001472840]|not specified [RCV000604751] Chr20:49482400 [GRCh38]
Chr20:48098937 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000688503]|Epileptic encephalopathy [RCV000782146]|Intellectual disability [RCV001255349]|Myoclonic absence seizure [RCV001003632]|developmental encephalopathy with epilepsy [RCV001249560]|not provided [RCV000520238] Chr20:49374644 [GRCh38]
Chr20:47991181 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001868163]|Early infantile epileptic encephalopathy with suppression bursts [RCV001249561]|Epileptic encephalopathy [RCV000782148]|Intellectual disability [RCV001257726]|Seizure [RCV000626870]|developmental encephalopathy with epilepsy [RCV001249555]|not provided [RCV001171607] Chr20:49374625 [GRCh38]
Chr20:47991162 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000686798] Chr20:49374417 [GRCh38]
Chr20:47990954 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001855375]|not provided [RCV000658369] Chr20:49373248 [GRCh38]
Chr20:47989785 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000677688]|Epileptic encephalopathy [RCV000782151] Chr20:49374559 [GRCh38]
Chr20:47991096 [GRCh37]
Chr20:20q13.13		 likely pathogenic
Single allele duplication not provided [RCV000677941] Chr20:46962638..50647699 [GRCh37]
Chr20:20q13.13-13.2		 uncertain significance
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000688265] Chr20:49374167 [GRCh38]
Chr20:47990704 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000698867] Chr20:49373209 [GRCh38]
Chr20:47989746 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000687101] Chr20:49373288 [GRCh38]
Chr20:47989825 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000701515]|not provided [RCV001558058] Chr20:49373233 [GRCh38]
Chr20:47989770 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000706779]|Inborn genetic diseases [RCV002532851] Chr20:49482010 [GRCh38]
Chr20:48098547 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001518675]|not provided [RCV003437394] Chr20:49373240 [GRCh38]
Chr20:47989777 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000699132]|not provided [RCV001562211] Chr20:49373551 [GRCh38]
Chr20:47990088 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000694403]|not provided [RCV003442032] Chr20:49373357 [GRCh38]
Chr20:47989894 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000700655]|Seizure [RCV001281564] Chr20:49482462 [GRCh38]
Chr20:48098999 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.126C>G (p.His42Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000704548] Chr20:49482355 [GRCh38]
Chr20:48098892 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000705320] Chr20:49373444 [GRCh38]
Chr20:47989981 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000699453] Chr20:49373455 [GRCh38]
Chr20:47989992 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000694167] Chr20:49374748 [GRCh38]
Chr20:47991285 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000699581] Chr20:49374418 [GRCh38]
Chr20:47990955 [GRCh37]
Chr20:20q13.13		 pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001504159]|Inborn genetic diseases [RCV004619398] Chr20:49374224 [GRCh38]
Chr20:47990761 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.13(chr20:47938833-48025102)x3 copy number gain not provided [RCV000741248] Chr20:47938833..48025102 [GRCh37]
Chr20:20q13.13		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001400216]|not provided [RCV000940203] Chr20:49373455 [GRCh38]
Chr20:47989992 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002073248]|not provided [RCV001691307] Chr20:49373289 [GRCh38]
Chr20:47989826 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000990313] Chr20:49374965 [GRCh38]
Chr20:47991502 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1371C>G (p.Ser457Arg) single nucleotide variant not provided [RCV001551026] Chr20:49374189 [GRCh38]
Chr20:47990726 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000985159] Chr20:49374338 [GRCh38]
Chr20:47990875 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.99C>A (p.Val33=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000959489] Chr20:49482382 [GRCh38]
Chr20:48098919 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000879433]|not provided [RCV001558723] Chr20:49373699 [GRCh38]
Chr20:47990236 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs) duplication Developmental and epileptic encephalopathy, 26 [RCV001059170]|Rare genetic intellectual disability [RCV001257030]|not provided [RCV001585960] Chr20:49373353..49373354 [GRCh38]
Chr20:47989890..47989891 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001048083] Chr20:49373326 [GRCh38]
Chr20:47989863 [GRCh37]
Chr20:20q13.13		 uncertain significance
NC_000020.11:g.(?_49372963)_(49375012_?)del deletion Developmental and epileptic encephalopathy, 26 [RCV001032529] Chr20:47989500..47991549 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001070308]|not provided [RCV002225794] Chr20:49374857 [GRCh38]
Chr20:47991394 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034169] Chr20:49373197 [GRCh38]
Chr20:47989734 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034297] Chr20:49482477 [GRCh38]
Chr20:48099014 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034350] Chr20:49373938 [GRCh38]
Chr20:47990475 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034371] Chr20:49373713 [GRCh38]
Chr20:47990250 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001057679] Chr20:49374820 [GRCh38]
Chr20:47991357 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly) single nucleotide variant Epileptic encephalopathy [RCV000782143] Chr20:49482353 [GRCh38]
Chr20:48098890 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) single nucleotide variant Intellectual disability [RCV000782166] Chr20:49374071 [GRCh38]
Chr20:47990608 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2086A>C (p.Arg696=) single nucleotide variant not provided [RCV000919761] Chr20:49373474 [GRCh38]
Chr20:47990011 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.615C>T (p.Ala205=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000939851] Chr20:49374945 [GRCh38]
Chr20:47991482 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.210C>G (p.Leu70=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002066490] Chr20:49482271 [GRCh38]
Chr20:48098808 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.651C>T (p.Leu217=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000940304] Chr20:49374909 [GRCh38]
Chr20:47991446 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.568-10C>T single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001398942] Chr20:49375002 [GRCh38]
Chr20:47991539 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2529G>A (p.Val843=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001440026] Chr20:49373031 [GRCh38]
Chr20:47989568 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000809665]|not provided [RCV001655604] Chr20:49373855 [GRCh38]
Chr20:47990392 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000822606] Chr20:49482174 [GRCh38]
Chr20:48098711 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1326T>C (p.Asn442=) single nucleotide variant not provided [RCV000828046] Chr20:49374234 [GRCh38]
Chr20:47990771 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000824180] Chr20:49374102 [GRCh38]
Chr20:47990639 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002068561]|not provided [RCV000840141] Chr20:49373760 [GRCh38]
Chr20:47990297 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001869161]|Epileptic encephalopathy [RCV000782163] Chr20:49374359 [GRCh38]
Chr20:47990896 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) single nucleotide variant Intellectual disability [RCV000782164] Chr20:49374334 [GRCh38]
Chr20:47990871 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000802345]|not provided [RCV001796234] Chr20:49373417 [GRCh38]
Chr20:47989954 [GRCh37]
Chr20:20q13.13		 uncertain significance
GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1 copy number loss not provided [RCV000848716] Chr20:48023123..48581111 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002549981]|not provided [RCV000997787] Chr20:49373354 [GRCh38]
Chr20:47989891 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1503T>C (p.Ser501=) single nucleotide variant not provided [RCV000842391] Chr20:49374057 [GRCh38]
Chr20:47990594 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000990311]|Intellectual disability [RCV000782167] Chr20:49373813 [GRCh38]
Chr20:47990350 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) single nucleotide variant Epileptic encephalopathy [RCV000782149]|Neurodevelopmental delay [RCV002274100] Chr20:49374592 [GRCh38]
Chr20:47991129 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001331324]|Epileptic encephalopathy [RCV000782153] Chr20:49374515 [GRCh38]
Chr20:47991052 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000805612]|Epileptic encephalopathy [RCV000782154] Chr20:49374455 [GRCh38]
Chr20:47990992 [GRCh37]
Chr20:20q13.13		 pathogenic|uncertain significance
NM_004975.4(KCNB1):c.-51G>C single nucleotide variant not provided [RCV000836929] Chr20:49482531 [GRCh38]
Chr20:48099068 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs) indel Developmental and epileptic encephalopathy, 26 [RCV000824492] Chr20:49374687..49374697 [GRCh38]
Chr20:47991224..47991234 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000792804] Chr20:49373597 [GRCh38]
Chr20:47990134 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter) single nucleotide variant Epileptic encephalopathy [RCV000782150] Chr20:49374576 [GRCh38]
Chr20:47991113 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn) single nucleotide variant Epileptic encephalopathy [RCV000782157] Chr20:49374430 [GRCh38]
Chr20:47990967 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001253039]|Epileptic encephalopathy [RCV000782159] Chr20:49374421 [GRCh38]
Chr20:47990958 [GRCh37]
Chr20:20q13.13		 pathogenic|uncertain significance
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn) single nucleotide variant Epileptic encephalopathy [RCV000782160] Chr20:49374416 [GRCh38]
Chr20:47990953 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003224879]|Epileptic encephalopathy [RCV000782165] Chr20:49374312 [GRCh38]
Chr20:47990849 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) single nucleotide variant Intellectual disability [RCV000782156] Chr20:49374445 [GRCh38]
Chr20:47990982 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg) single nucleotide variant Epileptic encephalopathy [RCV000782161] Chr20:49374380 [GRCh38]
Chr20:47990917 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001065353]|not provided [RCV003319441] Chr20:49374314 [GRCh38]
Chr20:47990851 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.117del (p.Leu40fs) deletion Developmental and epileptic encephalopathy, 26 [RCV000806054] Chr20:49482364 [GRCh38]
Chr20:48098901 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000801458] Chr20:49374823 [GRCh38]
Chr20:47991360 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000818286]|not provided [RCV004717715] Chr20:49373425 [GRCh38]
Chr20:47989962 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000818528]|Inborn genetic diseases [RCV004629348]|not provided [RCV001766728] Chr20:49373698 [GRCh38]
Chr20:47990235 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000816106] Chr20:49374343 [GRCh38]
Chr20:47990880 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.243C>T (p.Asn81=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586221]|not provided [RCV000837788] Chr20:49482238 [GRCh38]
Chr20:48098775 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000800093] Chr20:49373497 [GRCh38]
Chr20:47990034 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000800346]|not provided [RCV001557356] Chr20:49373905 [GRCh38]
Chr20:47990442 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.857del (p.Val286fs) deletion Epileptic encephalopathy [RCV000782145] Chr20:49374703 [GRCh38]
Chr20:47991240 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg) single nucleotide variant Epileptic encephalopathy [RCV000782144] Chr20:49374931 [GRCh38]
Chr20:47991468 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile) single nucleotide variant Intellectual disability [RCV000782155] Chr20:49374445 [GRCh38]
Chr20:47990982 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) single nucleotide variant Epileptic encephalopathy [RCV000782158]|not provided [RCV001592961] Chr20:49374428 [GRCh38]
Chr20:47990965 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.900C>T (p.Arg300=) single nucleotide variant not provided [RCV000920353] Chr20:49374660 [GRCh38]
Chr20:47991197 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.567+49C>T single nucleotide variant not provided [RCV000842040] Chr20:49481865 [GRCh38]
Chr20:48098402 [GRCh37]
Chr20:20q13.13		 likely benign
NC_000020.11:g.(?_48921870)_(49482500_?)del deletion Developmental and epileptic encephalopathy, 26 [RCV001031370] Chr20:47538407..48099037 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.372C>T (p.Ile124=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748301]|KCNB1-related disorder [RCV004545000]|not provided [RCV000997790] Chr20:49482109 [GRCh38]
Chr20:48098646 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter) single nucleotide variant Intellectual disability [RCV001257728]|not provided [RCV001008712] Chr20:49374917 [GRCh38]
Chr20:47991454 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter) duplication not provided [RCV001008738] Chr20:49374220..49374221 [GRCh38]
Chr20:47990757..47990758 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001027969] Chr20:49374032 [GRCh38]
Chr20:47990569 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1095del (p.Ala366fs) deletion not provided [RCV001009125] Chr20:49374465 [GRCh38]
Chr20:47991002 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850450] Chr20:49374320 [GRCh38]
Chr20:47990857 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001231182] Chr20:49373023 [GRCh38]
Chr20:47989560 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001202830]|not provided [RCV001823184] Chr20:49374194 [GRCh38]
Chr20:47990731 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001210980] Chr20:49374430 [GRCh38]
Chr20:47990967 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001213195] Chr20:49374933 [GRCh38]
Chr20:47991470 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001205931]|not provided [RCV001760170] Chr20:49482398 [GRCh38]
Chr20:48098935 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001213891] Chr20:49374415 [GRCh38]
Chr20:47990952 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001209556] Chr20:49374683 [GRCh38]
Chr20:47991220 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001235544] Chr20:49373461 [GRCh38]
Chr20:47989998 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001223474] Chr20:49373288 [GRCh38]
Chr20:47989825 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys) single nucleotide variant not provided [RCV001200152] Chr20:49374955 [GRCh38]
Chr20:47991492 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001207552]|not provided [RCV001587224] Chr20:49373467 [GRCh38]
Chr20:47990004 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001230456] Chr20:49374437 [GRCh38]
Chr20:47990974 [GRCh37]
Chr20:20q13.13		 pathogenic|uncertain significance
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV000990312] Chr20:49374746 [GRCh38]
Chr20:47991283 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2342G>A (p.Ser781Asn) single nucleotide variant not provided [RCV001200151] Chr20:49373218 [GRCh38]
Chr20:47989755 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001230507] Chr20:49373150 [GRCh38]
Chr20:47989687 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.937C>A (p.His313Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV004556143] Chr20:49374623 [GRCh38]
Chr20:47991160 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001866180]|not provided [RCV001583924] Chr20:49373906 [GRCh38]
Chr20:47990443 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.2178C>T (p.Tyr726=) single nucleotide variant not provided [RCV001562830] Chr20:49373382 [GRCh38]
Chr20:47989919 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001434972]|Inborn genetic diseases [RCV004029401] Chr20:49373104 [GRCh38]
Chr20:47989641 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2085C>G (p.Leu695=) single nucleotide variant not provided [RCV000970760] Chr20:49373475 [GRCh38]
Chr20:47990012 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001210501] Chr20:49373144 [GRCh38]
Chr20:47989681 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001225867] Chr20:49374215 [GRCh38]
Chr20:47990752 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001238873] Chr20:49373356 [GRCh38]
Chr20:47989893 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001218964] Chr20:49373600 [GRCh38]
Chr20:47990137 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1133T>C (p.Val378Ala) single nucleotide variant not provided [RCV001093363] Chr20:49374427 [GRCh38]
Chr20:47990964 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.940T>G (p.Ser314Ala) single nucleotide variant not provided [RCV001093364] Chr20:49374620 [GRCh38]
Chr20:47991157 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001219959] Chr20:49374205 [GRCh38]
Chr20:47990742 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034177] Chr20:49373089 [GRCh38]
Chr20:47989626 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001225428] Chr20:49373579 [GRCh38]
Chr20:47990116 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001221859] Chr20:49482049 [GRCh38]
Chr20:48098586 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001858864]|not provided [RCV000997789] Chr20:49374719 [GRCh38]
Chr20:47991256 [GRCh37]
Chr20:20q13.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002068735]|not provided [RCV000997788] Chr20:49373433 [GRCh38]
Chr20:47989970 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.241_243del (p.Asn81del) deletion not provided [RCV003229958] Chr20:49482238..49482240 [GRCh38]
Chr20:48098775..48098777 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001882655]|Inborn genetic diseases [RCV002568419]|not provided [RCV001562751] Chr20:49373185 [GRCh38]
Chr20:47989722 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1055_1066del (p.Ala352_Asp355del) deletion not provided [RCV001562756] Chr20:49374494..49374505 [GRCh38]
Chr20:47991031..47991042 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002072057]|not provided [RCV001552766] Chr20:49373353 [GRCh38]
Chr20:47989890 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del) deletion Developmental and epileptic encephalopathy, 26 [RCV003748451]|not provided [RCV002469723] Chr20:49373317..49373322 [GRCh38]
Chr20:47989854..47989859 [GRCh37]
Chr20:20q13.13		 uncertain significance
NC_000020.11:g.49482899G>A single nucleotide variant not provided [RCV001550688] Chr20:49482899 [GRCh38]
Chr20:48099436 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002472221] Chr20:49373759 [GRCh38]
Chr20:47990296 [GRCh37]
Chr20:20q13.13		 uncertain significance
NC_000020.11:g.49212886_49410642dup duplication Developmental and epileptic encephalopathy, 26 [RCV001542404] Chr20:49212886..49410642 [GRCh38]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034110] Chr20:49373681 [GRCh38]
Chr20:47990218 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034379] Chr20:49373143 [GRCh38]
Chr20:47989680 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1398G>C (p.Glu466Asp) single nucleotide variant Intellectual disability [RCV001252021] Chr20:49374162 [GRCh38]
Chr20:47990699 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034486] Chr20:49374266 [GRCh38]
Chr20:47990803 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001066705] Chr20:49374545 [GRCh38]
Chr20:47991082 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2558C>T (p.Thr853Ile) single nucleotide variant not provided [RCV001093360] Chr20:49373002 [GRCh38]
Chr20:47989539 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002555967]|not provided [RCV001093361] Chr20:49373623 [GRCh38]
Chr20:47990160 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.567G>C (p.Lys189Asn) single nucleotide variant not provided [RCV001093365] Chr20:49481914 [GRCh38]
Chr20:48098451 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001172333]|not provided [RCV001531966] Chr20:49374451 [GRCh38]
Chr20:47990988 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1550C>A (p.Ser517Ter) single nucleotide variant not provided [RCV001542094] Chr20:49374010 [GRCh38]
Chr20:47990547 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001033960] Chr20:49374216 [GRCh38]
Chr20:47990753 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.*71A>C single nucleotide variant not provided [RCV001583787] Chr20:49372912 [GRCh38]
Chr20:47989449 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034381] Chr20:49373836 [GRCh38]
Chr20:47990373 [GRCh37]
Chr20:20q13.13		 benign|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034472]|Inborn genetic diseases [RCV002552444] Chr20:49373501 [GRCh38]
Chr20:47990038 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034477] Chr20:49373669 [GRCh38]
Chr20:47990206 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001034526] Chr20:49373105 [GRCh38]
Chr20:47989642 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001071214] Chr20:49374031 [GRCh38]
Chr20:47990568 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002290661]|Early infantile epileptic encephalopathy with suppression bursts [RCV001249558] Chr20:49374097 [GRCh38]
Chr20:47990634 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002246234]|Early infantile epileptic encephalopathy with suppression bursts [RCV001249556]|not provided [RCV004727048] Chr20:49374604 [GRCh38]
Chr20:47991141 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) microsatellite Developmental and epileptic encephalopathy, 26 [RCV001237087] Chr20:49373772..49373773 [GRCh38]
Chr20:47990309..47990310 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001207638]|not provided [RCV001760175] Chr20:49373954 [GRCh38]
Chr20:47990491 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001060788] Chr20:49482359 [GRCh38]
Chr20:48098896 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001057919] Chr20:49373707 [GRCh38]
Chr20:47990244 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001219107] Chr20:49373237 [GRCh38]
Chr20:47989774 [GRCh37]
Chr20:20q13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001051795]|not provided [RCV001561650] Chr20:49373311 [GRCh38]
Chr20:47989848 [GRCh37]
Chr20:20q13.13		 benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.856G>A (p.Val286Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001217148] Chr20:49374704 [GRCh38]
Chr20:47991241 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001232315]|not provided [RCV003442794] Chr20:49374574 [GRCh38]
Chr20:47991111 [GRCh37]
Chr20:20q13.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001033989] Chr20:49373963 [GRCh38]
Chr20:47990500 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001055628]|Inborn genetic diseases [RCV002553798] Chr20:49373624 [GRCh38]
Chr20:47990161 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001246168] Chr20:49374114 [GRCh38]
Chr20:47990651 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001089749] Chr20:49373966 [GRCh38]
Chr20:47990503 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001063036] Chr20:49374350 [GRCh38]
Chr20:47990887 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001070486] Chr20:49373436 [GRCh38]
Chr20:47989973 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002495902]|not provided [RCV001564786] Chr20:49374424 [GRCh38]
Chr20:47990961 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001262293] Chr20:49374323 [GRCh38]
Chr20:47990860 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001262847] Chr20:49374662 [GRCh38]
Chr20:47991199 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002537682]|Inborn genetic diseases [RCV001265994]|not provided [RCV001587306] Chr20:49374587 [GRCh38]
Chr20:47991124 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001350088] Chr20:49373045 [GRCh38]
Chr20:47989582 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.430A>C (p.Met144Leu) single nucleotide variant not provided [RCV002284840] Chr20:49482051 [GRCh38]
Chr20:48098588 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1106G>A (p.Trp369Ter) single nucleotide variant Intellectual disability [RCV001257727] Chr20:49374454 [GRCh38]
Chr20:47990991 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe) single nucleotide variant Inborn genetic diseases [RCV001267158] Chr20:49374460 [GRCh38]
Chr20:47990997 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001294302]|Inborn genetic diseases [RCV004035602] Chr20:49373036 [GRCh38]
Chr20:47989573 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001303186]|Inborn genetic diseases [RCV004036270] Chr20:49373100 [GRCh38]
Chr20:47989637 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001880085]|Neurodevelopmental abnormality [RCV001264690] Chr20:49373552 [GRCh38]
Chr20:47990089 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.978del (p.Ser327fs) deletion not provided [RCV001268087] Chr20:49374582 [GRCh38]
Chr20:47991119 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.242A>T (p.Asn81Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001528113] Chr20:49482239 [GRCh38]
Chr20:48098776 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001262131] Chr20:49374643 [GRCh38]
Chr20:47991180 [GRCh37]
Chr20:20q13.13		 likely pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001319525] Chr20:49373048 [GRCh38]
Chr20:47989585 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001316647] Chr20:49374116 [GRCh38]
Chr20:47990653 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001351473] Chr20:49374537 [GRCh38]
Chr20:47991074 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2284G>A (p.Asp762Asn) single nucleotide variant not provided [RCV001311992] Chr20:49373276 [GRCh38]
Chr20:47989813 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2024A>G (p.Asn675Ser) single nucleotide variant not provided [RCV001311993] Chr20:49373536 [GRCh38]
Chr20:47990073 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.568-12T>G single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001333331] Chr20:49375004 [GRCh38]
Chr20:47991541 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001303743] Chr20:49373359 [GRCh38]
Chr20:47989896 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001300764] Chr20:49373380 [GRCh38]
Chr20:47989917 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.204G>A (p.Ser68=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001397359] Chr20:49482277 [GRCh38]
Chr20:48098814 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001298441] Chr20:49373215 [GRCh38]
Chr20:47989752 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001315922] Chr20:49374808 [GRCh38]
Chr20:47991345 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001372470]|not provided [RCV004584888] Chr20:49373932 [GRCh38]
Chr20:47990469 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001397224] Chr20:49373004 [GRCh38]
Chr20:47989541 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs) deletion Developmental and epileptic encephalopathy, 26 [RCV001360180] Chr20:49374875..49374884 [GRCh38]
Chr20:47991412..47991421 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001333329] Chr20:49374424 [GRCh38]
Chr20:47990961 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001361929] Chr20:49373653 [GRCh38]
Chr20:47990190 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001304638]|See cases [RCV002252358]|not provided [RCV004692456] Chr20:49373468 [GRCh38]
Chr20:47990005 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001321573] Chr20:49373000 [GRCh38]
Chr20:47989537 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001333330] Chr20:49374355 [GRCh38]
Chr20:47990892 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001345024] Chr20:49374586 [GRCh38]
Chr20:47991123 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001344351] Chr20:49374670 [GRCh38]
Chr20:47991207 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001322558] Chr20:49373215 [GRCh38]
Chr20:47989752 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001363690]|not provided [RCV004770109] Chr20:49374508 [GRCh38]
Chr20:47991045 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001363735] Chr20:49373782 [GRCh38]
Chr20:47990319 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001366104] Chr20:49374554 [GRCh38]
Chr20:47991091 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001360516] Chr20:49374311 [GRCh38]
Chr20:47990848 [GRCh37]
Chr20:20q13.13		 pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001307323] Chr20:49373231 [GRCh38]
Chr20:47989768 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001366969] Chr20:49374641 [GRCh38]
Chr20:47991178 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NC_000020.10:g.(?_47989500)_(47991549_?)del deletion Epileptic encephalopathy, early infantile, 26 [RCV001300464] Chr20:47989500..47991549 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser) indel Developmental and epileptic encephalopathy, 26 [RCV001371720] Chr20:49373087..49373088 [GRCh38]
Chr20:47989624..47989625 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001395406] Chr20:49373868 [GRCh38]
Chr20:47990405 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001365531] Chr20:49374906 [GRCh38]
Chr20:47991443 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001365681]|not provided [RCV002224079] Chr20:49374629 [GRCh38]
Chr20:47991166 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001376121] Chr20:49374370 [GRCh38]
Chr20:47990907 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001492135] Chr20:49374576 [GRCh38]
Chr20:47991113 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001394133] Chr20:49374441 [GRCh38]
Chr20:47990978 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001394332] Chr20:49373664 [GRCh38]
Chr20:47990201 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001498428]|not provided [RCV004598006] Chr20:49374225 [GRCh38]
Chr20:47990762 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001514265]|not provided [RCV001751780] Chr20:49373262 [GRCh38]
Chr20:47989799 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001514544] Chr20:49373035 [GRCh38]
Chr20:47989572 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.660C>T (p.Phe220=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001476183] Chr20:49374900 [GRCh38]
Chr20:47991437 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001520734]|not provided [RCV001712938] Chr20:49374204 [GRCh38]
Chr20:47990741 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.315C>T (p.His105=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001503529] Chr20:49482166 [GRCh38]
Chr20:48098703 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.489C>T (p.Phe163=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001506482]|not provided [RCV002264361] Chr20:49481992 [GRCh38]
Chr20:48098529 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.477A>G (p.Glu159=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001459115] Chr20:49482004 [GRCh38]
Chr20:48098541 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001436599] Chr20:49482020 [GRCh38]
Chr20:48098557 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.702C>G (p.Ala234=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001469438] Chr20:49374858 [GRCh38]
Chr20:47991395 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001434393] Chr20:49373409 [GRCh38]
Chr20:47989946 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001434573] Chr20:49373235 [GRCh38]
Chr20:47989772 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001493193] Chr20:49373592 [GRCh38]
Chr20:47990129 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001463643] Chr20:49374432 [GRCh38]
Chr20:47990969 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001484843] Chr20:49374228 [GRCh38]
Chr20:47990765 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001398501] Chr20:49373919 [GRCh38]
Chr20:47990456 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001485005] Chr20:49374054 [GRCh38]
Chr20:47990591 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.54C>T (p.Pro18=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001398659] Chr20:49482427 [GRCh38]
Chr20:48098964 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.864A>G (p.Gln288=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001469131] Chr20:49374696 [GRCh38]
Chr20:47991233 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.606C>T (p.Ser202=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001505261] Chr20:49374954 [GRCh38]
Chr20:47991491 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001420111] Chr20:49373444 [GRCh38]
Chr20:47989981 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001438401] Chr20:49373943 [GRCh38]
Chr20:47990480 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001438560] Chr20:49373598 [GRCh38]
Chr20:47990135 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.300C>G (p.Arg100=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001448984] Chr20:49482181 [GRCh38]
Chr20:48098718 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.33C>A (p.Arg11=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001446577] Chr20:49482448 [GRCh38]
Chr20:48098985 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001408269] Chr20:49373148 [GRCh38]
Chr20:47989685 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001378612] Chr20:49374604 [GRCh38]
Chr20:47991141 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001401612] Chr20:49374066 [GRCh38]
Chr20:47990603 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001379870] Chr20:49374599 [GRCh38]
Chr20:47991136 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001448136] Chr20:49373103 [GRCh38]
Chr20:47989640 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001461764] Chr20:49374150 [GRCh38]
Chr20:47990687 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.66G>A (p.Glu22=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001490413] Chr20:49482415 [GRCh38]
Chr20:48098952 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001478843] Chr20:49374462 [GRCh38]
Chr20:47990999 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001516061] Chr20:49482476 [GRCh38]
Chr20:48099013 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001491254] Chr20:49374741 [GRCh38]
Chr20:47991278 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001866226]|not provided [RCV001588559] Chr20:49373625 [GRCh38]
Chr20:47990162 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001496417] Chr20:49373310 [GRCh38]
Chr20:47989847 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.954G>A (p.Gln318=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001439437] Chr20:49374606 [GRCh38]
Chr20:47991143 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001522873] Chr20:49373039 [GRCh38]
Chr20:47989576 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.9G>A (p.Ala3=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001417323]|not provided [RCV003883634] Chr20:49482472 [GRCh38]
Chr20:48099009 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001431414] Chr20:49373208 [GRCh38]
Chr20:47989745 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1206C>G (p.Val402=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001458120] Chr20:49374354 [GRCh38]
Chr20:47990891 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001519717]|Inborn genetic diseases [RCV003161046]|not provided [RCV001762710] Chr20:49374010 [GRCh38]
Chr20:47990547 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.882C>T (p.Arg294=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001404162] Chr20:49374678 [GRCh38]
Chr20:47991215 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001451915] Chr20:49373220 [GRCh38]
Chr20:47989757 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001463217] Chr20:49374423 [GRCh38]
Chr20:47990960 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001400425] Chr20:49373335 [GRCh38]
Chr20:47989872 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001407111] Chr20:49373082 [GRCh38]
Chr20:47989619 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001511582]|not provided [RCV003434301] Chr20:49373911 [GRCh38]
Chr20:47990448 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001400744] Chr20:49373190 [GRCh38]
Chr20:47989727 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001471831] Chr20:49373463 [GRCh38]
Chr20:47990000 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001516042]|KCNB1-related disorder [RCV004734220] Chr20:49373680 [GRCh38]
Chr20:47990217 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.1154C>T (p.Pro385Leu) single nucleotide variant not provided [RCV001756243] Chr20:49374406 [GRCh38]
Chr20:47990943 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2197A>T (p.Thr733Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002244146] Chr20:49373363 [GRCh38]
Chr20:47989900 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002077191]|not provided [RCV001754770] Chr20:49374899 [GRCh38]
Chr20:47991436 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.342C>A (p.Ser114Arg) single nucleotide variant not provided [RCV001755137] Chr20:49482139 [GRCh38]
Chr20:48098676 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002249084] Chr20:49374340 [GRCh38]
Chr20:47990877 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1942_1945del (p.Gln648fs) microsatellite not provided [RCV001758662] Chr20:49373615..49373618 [GRCh38]
Chr20:47990152..47990155 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001761500]|not provided [RCV003238391] Chr20:49373245 [GRCh38]
Chr20:47989782 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003772010]|not provided [RCV001752356] Chr20:49373836 [GRCh38]
Chr20:47990373 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.74_75delinsAA (p.Arg25Gln) indel not provided [RCV001765327] Chr20:49482406..49482407 [GRCh38]
Chr20:48098943..48098944 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003132534]|not provided [RCV001763949] Chr20:49482411 [GRCh38]
Chr20:48098948 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2029A>G (p.Met677Val) single nucleotide variant not provided [RCV001754294] Chr20:49373531 [GRCh38]
Chr20:47990068 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) deletion Developmental and epileptic encephalopathy, 26 [RCV002540232]|not provided [RCV001764994] Chr20:49373698..49373717 [GRCh38]
Chr20:47990235..47990254 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.*5139C>T single nucleotide variant not provided [RCV001814859] Chr20:49367844 [GRCh38]
Chr20:47984381 [GRCh37]
Chr20:20q13.13		 uncertain significance
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13		 pathogenic
NM_004975.4(KCNB1):c.2079C>A (p.Asp693Glu) single nucleotide variant not provided [RCV001757177] Chr20:49373481 [GRCh38]
Chr20:47990018 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1188C>G (p.Leu396=) single nucleotide variant not provided [RCV001815909] Chr20:49374372 [GRCh38]
Chr20:47990909 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.596T>G (p.Ile199Ser) single nucleotide variant not provided [RCV001758081] Chr20:49374964 [GRCh38]
Chr20:47991501 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2069T>C (p.Met690Thr) single nucleotide variant not provided [RCV001758482] Chr20:49373491 [GRCh38]
Chr20:47990028 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter) duplication Developmental and epileptic encephalopathy, 26 [RCV001814889] Chr20:49374056..49374057 [GRCh38]
Chr20:47990593..47990594 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer) indel Developmental and epileptic encephalopathy, 26 [RCV001896205] Chr20:49374494..49374495 [GRCh38]
Chr20:47991031..47991032 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002005477] Chr20:49374011 [GRCh38]
Chr20:47990548 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001896018] Chr20:49373086 [GRCh38]
Chr20:47989623 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002025299] Chr20:49374925 [GRCh38]
Chr20:47991462 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001969307] Chr20:49374064 [GRCh38]
Chr20:47990601 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002045029] Chr20:49374337 [GRCh38]
Chr20:47990874 [GRCh37]
Chr20:20q13.13		 uncertain significance
NC_000020.10:g.(?_47989520)_(47991549_?)dup duplication Developmental and epileptic encephalopathy, 26 [RCV001987600] Chr20:47989520..47991549 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002003955] Chr20:49373293 [GRCh38]
Chr20:47989830 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001964775] Chr20:49373965 [GRCh38]
Chr20:47990502 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001985118] Chr20:49373477 [GRCh38]
Chr20:47990014 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002007541] Chr20:49374391 [GRCh38]
Chr20:47990928 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001894195] Chr20:49374202 [GRCh38]
Chr20:47990739 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001927548] Chr20:49373791 [GRCh38]
Chr20:47990328 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001912337] Chr20:49374173 [GRCh38]
Chr20:47990710 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001945843] Chr20:49374453 [GRCh38]
Chr20:47990990 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001984796] Chr20:49373648 [GRCh38]
Chr20:47990185 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001992258] Chr20:49482329 [GRCh38]
Chr20:48098866 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001959330] Chr20:49374772 [GRCh38]
Chr20:47991309 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001887357] Chr20:49374016 [GRCh38]
Chr20:47990553 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001886747] Chr20:49373532 [GRCh38]
Chr20:47990069 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001977460] Chr20:49373353 [GRCh38]
Chr20:47989890 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002020136] Chr20:49373029 [GRCh38]
Chr20:47989566 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.2206del (p.Arg736fs) deletion Developmental and epileptic encephalopathy, 26 [RCV001921651] Chr20:49373354 [GRCh38]
Chr20:47989891 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002046872] Chr20:49373360 [GRCh38]
Chr20:47989897 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001957648] Chr20:49373833 [GRCh38]
Chr20:47990370 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002028293] Chr20:49374166 [GRCh38]
Chr20:47990703 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001921293]|Inborn genetic diseases [RCV002561344]|not provided [RCV003438899] Chr20:49372999 [GRCh38]
Chr20:47989536 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001922557]|not provided [RCV004728914] Chr20:49481945 [GRCh38]
Chr20:48098482 [GRCh37]
Chr20:20q13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001977211] Chr20:49482452 [GRCh38]
Chr20:48098989 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001878479]|not provided [RCV003329416]|not specified [RCV002246559] Chr20:49373164 [GRCh38]
Chr20:47989701 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001936208] Chr20:49374331 [GRCh38]
Chr20:47990868 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002046763] Chr20:49374932 [GRCh38]
Chr20:47991469 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001921511] Chr20:49373620 [GRCh38]
Chr20:47990157 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001995719] Chr20:49374851 [GRCh38]
Chr20:47991388 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001877617] Chr20:49374842 [GRCh38]
Chr20:47991379 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.407G>A (p.Arg136His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001935227] Chr20:49482074 [GRCh38]
Chr20:48098611 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002049562]|not provided [RCV003223730] Chr20:49374653 [GRCh38]
Chr20:47991190 [GRCh37]
Chr20:20q13.13		 likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001996622] Chr20:49374601 [GRCh38]
Chr20:47991138 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001931858] Chr20:49373254 [GRCh38]
Chr20:47989791 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001934619] Chr20:49373743 [GRCh38]
Chr20:47990280 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001882038]|not provided [RCV003883717] Chr20:49374163 [GRCh38]
Chr20:47990700 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001998318]|Inborn genetic diseases [RCV002573469] Chr20:49373920 [GRCh38]
Chr20:47990457 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002050654] Chr20:49481986 [GRCh38]
Chr20:48098523 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001995815] Chr20:49373686 [GRCh38]
Chr20:47990223 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001953876]|not provided [RCV003320446] Chr20:49374931 [GRCh38]
Chr20:47991468 [GRCh37]
Chr20:20q13.13		 pathogenic|not provided
NM_004975.4(KCNB1):c.567G>A (p.Lys189=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001931718] Chr20:49481914 [GRCh38]
Chr20:48098451 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV001903045] Chr20:49374480 [GRCh38]
Chr20:47991017 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002167763] Chr20:49373856 [GRCh38]
Chr20:47990393 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002071557] Chr20:49373697 [GRCh38]
Chr20:47990234 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002109006] Chr20:49373308 [GRCh38]
Chr20:47989845 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.357C>G (p.Leu119=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002147381] Chr20:49482124 [GRCh38]
Chr20:48098661 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002124955] Chr20:49374031 [GRCh38]
Chr20:47990568 [GRCh37]
Chr20:20q13.13		 benign|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002148061] Chr20:49374217 [GRCh38]
Chr20:47990754 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.102C>T (p.Arg34=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002071111] Chr20:49482379 [GRCh38]
Chr20:48098916 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1184G>A (p.Gly395Glu) single nucleotide variant not provided [RCV002224637] Chr20:49374376 [GRCh38]
Chr20:47990913 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002086464] Chr20:49373709 [GRCh38]
Chr20:47990246 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002165015] Chr20:49373238 [GRCh38]
Chr20:47989775 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.357C>T (p.Leu119=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002208052] Chr20:49482124 [GRCh38]
Chr20:48098661 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.738G>A (p.Leu246=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002128003]|not provided [RCV002123740] Chr20:49374822 [GRCh38]
Chr20:47991359 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu) indel Developmental and epileptic encephalopathy, 26 [RCV002167885] Chr20:49373680..49373681 [GRCh38]
Chr20:47990217..47990218 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002196681] Chr20:49373312 [GRCh38]
Chr20:47989849 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002131343] Chr20:49373442 [GRCh38]
Chr20:47989979 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.27C>A (p.Gly9=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002086861] Chr20:49482454 [GRCh38]
Chr20:48098991 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1047C>A (p.Val349=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002149615] Chr20:49374513 [GRCh38]
Chr20:47991050 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.567+12A>T single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002097585] Chr20:49481902 [GRCh38]
Chr20:48098439 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002079204] Chr20:49374015 [GRCh38]
Chr20:47990552 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1338A>T (p.Val446=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002153810] Chr20:49374222 [GRCh38]
Chr20:47990759 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002171830] Chr20:49374261 [GRCh38]
Chr20:47990798 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.426G>A (p.Glu142=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002094371] Chr20:49482055 [GRCh38]
Chr20:48098592 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002087852] Chr20:49373856 [GRCh38]
Chr20:47990393 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.903C>T (p.Ile301=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002094142] Chr20:49374657 [GRCh38]
Chr20:47991194 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.568-7C>T single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002212102] Chr20:49374999 [GRCh38]
Chr20:47991536 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002107118] Chr20:49373092 [GRCh38]
Chr20:47989629 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.567+11G>C single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002111700] Chr20:49481903 [GRCh38]
Chr20:48098440 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1040G>T (p.Ser347Ile) single nucleotide variant not provided [RCV002214230] Chr20:49374520 [GRCh38]
Chr20:47991057 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.750C>T (p.Ser250=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002131827] Chr20:49374810 [GRCh38]
Chr20:47991347 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.594C>T (p.Phe198=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002178569] Chr20:49374966 [GRCh38]
Chr20:47991503 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.45G>C (p.Ser15=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002218343] Chr20:49482436 [GRCh38]
Chr20:48098973 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002156142] Chr20:49373610 [GRCh38]
Chr20:47990147 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.101G>A (p.Arg34His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002198075] Chr20:49482380 [GRCh38]
Chr20:48098917 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002175928] Chr20:49373145 [GRCh38]
Chr20:47989682 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002216864] Chr20:49373045 [GRCh38]
Chr20:47989582 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002179540] Chr20:49374399 [GRCh38]
Chr20:47990936 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002160317] Chr20:49482389 [GRCh38]
Chr20:48098926 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002118180]|KCNB1-related disorder [RCV004531414] Chr20:49373254 [GRCh38]
Chr20:47989791 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002136777] Chr20:49373837 [GRCh38]
Chr20:47990374 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002157237] Chr20:49373135 [GRCh38]
Chr20:47989672 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.168G>T (p.Arg56=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002081479] Chr20:49482313 [GRCh38]
Chr20:48098850 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.117G>A (p.Gly39=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002081605] Chr20:49482364 [GRCh38]
Chr20:48098901 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.78C>T (p.Ser26=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002159792] Chr20:49482403 [GRCh38]
Chr20:48098940 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.84G>C (p.Ala28=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002159804] Chr20:49482397 [GRCh38]
Chr20:48098934 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1604A>G (p.Lys535Arg) single nucleotide variant not provided [RCV002221931]   uncertain significance
NM_004975.4(KCNB1):c.729G>A (p.Glu243=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002102292] Chr20:49374831 [GRCh38]
Chr20:47991368 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.990G>A (p.Glu330=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002200984] Chr20:49374570 [GRCh38]
Chr20:47991107 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.840C>T (p.Thr280=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002102824] Chr20:49374720 [GRCh38]
Chr20:47991257 [GRCh37]
Chr20:20q13.13		 likely benign
NC_000020.10:g.(?_48098431)_(48099017_?)dup duplication Developmental and epileptic encephalopathy, 26 [RCV003113620] Chr20:48098431..48099017 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1173A>C (p.Lys391Asn) single nucleotide variant not provided [RCV003320454] Chr20:49374387 [GRCh38]
Chr20:47990924 [GRCh37]
Chr20:20q13.13		 not provided
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002249083] Chr20:49374257 [GRCh38]
Chr20:47990794 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002288994] Chr20:49374408 [GRCh38]
Chr20:47990945 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1076C>T (p.Thr359Ile) single nucleotide variant not provided [RCV002263268] Chr20:49374484 [GRCh38]
Chr20:47991021 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1072G>A (p.Asp358Asn) single nucleotide variant not specified [RCV002281785] Chr20:49374488 [GRCh38]
Chr20:47991025 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1022G>T (p.Gly341Val) single nucleotide variant not provided [RCV002287156] Chr20:49374538 [GRCh38]
Chr20:47991075 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002286504] Chr20:49374610 [GRCh38]
Chr20:47991147 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.368G>T (p.Gly123Val) single nucleotide variant not provided [RCV002281363] Chr20:49482113 [GRCh38]
Chr20:48098650 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1204G>T (p.Val402Phe) single nucleotide variant not provided [RCV003236141] Chr20:49374356 [GRCh38]
Chr20:47990893 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.682del (p.Gln228fs) deletion not provided [RCV003129250] Chr20:49374878 [GRCh38]
Chr20:47991415 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1687G>T (p.Glu563Ter) single nucleotide variant not provided [RCV002469546] Chr20:49373873 [GRCh38]
Chr20:47990410 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002466342] Chr20:49374454 [GRCh38]
Chr20:47990991 [GRCh37]
Chr20:20q13.13		 pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1438G>T (p.Asp480Tyr) single nucleotide variant not provided [RCV004588634] Chr20:49374122 [GRCh38]
Chr20:47990659 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003131311] Chr20:49374017 [GRCh38]
Chr20:47990554 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1232T>A (p.Ile411Asn) single nucleotide variant not provided [RCV003232001] Chr20:49374328 [GRCh38]
Chr20:47990865 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002305382] Chr20:49482386 [GRCh38]
Chr20:48098923 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002300343] Chr20:49374613 [GRCh38]
Chr20:47991150 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002296818] Chr20:49482324 [GRCh38]
Chr20:48098861 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003074206]|not provided [RCV003228113] Chr20:49482420 [GRCh38]
Chr20:48098957 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002574716]|not provided [RCV002481219] Chr20:49373677 [GRCh38]
Chr20:47990214 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003013279] Chr20:49482449 [GRCh38]
Chr20:48098986 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002685928] Chr20:49373669 [GRCh38]
Chr20:47990206 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.996C>T (p.Gly332=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002616246] Chr20:49374564 [GRCh38]
Chr20:47991101 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.878G>A (p.Arg293His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002618402] Chr20:49374682 [GRCh38]
Chr20:47991219 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1256T>C (p.Phe419Ser) single nucleotide variant Inborn genetic diseases [RCV002818943] Chr20:49374304 [GRCh38]
Chr20:47990841 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002996549] Chr20:49373230 [GRCh38]
Chr20:47989767 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002996298] Chr20:49374828 [GRCh38]
Chr20:47991365 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.651C>G (p.Leu217=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002967967] Chr20:49374909 [GRCh38]
Chr20:47991446 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002839196] Chr20:49373509 [GRCh38]
Chr20:47990046 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002685760] Chr20:49374213 [GRCh38]
Chr20:47990750 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002880848] Chr20:49374738 [GRCh38]
Chr20:47991275 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003076769] Chr20:49373526 [GRCh38]
Chr20:47990063 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.567+8T>G single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002996899] Chr20:49481906 [GRCh38]
Chr20:48098443 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del) microsatellite Developmental and epileptic encephalopathy, 26 [RCV002819496] Chr20:49374443..49374445 [GRCh38]
Chr20:47990980..47990982 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003019343] Chr20:49374390 [GRCh38]
Chr20:47990927 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002914215] Chr20:49373087 [GRCh38]
Chr20:47989624 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.648C>T (p.Ser216=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002843967] Chr20:49374912 [GRCh38]
Chr20:47991449 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002795984] Chr20:49373325 [GRCh38]
Chr20:47989862 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1244del (p.Asn415fs) deletion Developmental and epileptic encephalopathy, 26 [RCV002820414] Chr20:49374316 [GRCh38]
Chr20:47990853 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002796095] Chr20:49373354 [GRCh38]
Chr20:47989891 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1852G>A (p.Gly618Ser) single nucleotide variant Inborn genetic diseases [RCV002737456]|not provided [RCV004765712] Chr20:49373708 [GRCh38]
Chr20:47990245 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003080200] Chr20:49373359 [GRCh38]
Chr20:47989896 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.6G>A (p.Pro2=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002735200] Chr20:49482475 [GRCh38]
Chr20:48099012 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002781476] Chr20:49482408 [GRCh38]
Chr20:48098945 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002760130] Chr20:49373661 [GRCh38]
Chr20:47990198 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002756939] Chr20:49373431 [GRCh38]
Chr20:47989968 [GRCh37]
Chr20:20q13.13		 likely benign|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002867065] Chr20:49374625 [GRCh38]
Chr20:47991162 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs) microsatellite Developmental and epileptic encephalopathy, 26 [RCV003055274] Chr20:49481955..49481956 [GRCh38]
Chr20:48098492..48098493 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002846852] Chr20:49374159 [GRCh38]
Chr20:47990696 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.154C>T (p.Leu52=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002846246] Chr20:49482327 [GRCh38]
Chr20:48098864 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del) microsatellite Developmental and epileptic encephalopathy, 26 [RCV002659204] Chr20:49374756..49374758 [GRCh38]
Chr20:47991293..47991295 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003019502] Chr20:49374358 [GRCh38]
Chr20:47990895 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002866920] Chr20:49373587 [GRCh38]
Chr20:47990124 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg) microsatellite Developmental and epileptic encephalopathy, 26 [RCV002851869] Chr20:49374579..49374580 [GRCh38]
Chr20:47991116..47991117 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs) duplication Developmental and epileptic encephalopathy, 26 [RCV002829622] Chr20:49373425..49373426 [GRCh38]
Chr20:47989962..47989963 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002625329]|Inborn genetic diseases [RCV003274310] Chr20:49482453 [GRCh38]
Chr20:48098990 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.1450T>C (p.Ser484Pro) single nucleotide variant Inborn genetic diseases [RCV002893466] Chr20:49374110 [GRCh38]
Chr20:47990647 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002710804] Chr20:49374324 [GRCh38]
Chr20:47990861 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002801253] Chr20:49374152 [GRCh38]
Chr20:47990689 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2336C>T (p.Pro779Leu) single nucleotide variant Inborn genetic diseases [RCV002875051] Chr20:49373224 [GRCh38]
Chr20:47989761 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1079del (p.Lys360fs) deletion Developmental and epileptic encephalopathy, 26 [RCV002914634] Chr20:49374481 [GRCh38]
Chr20:47991018 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002871715] Chr20:49373691 [GRCh38]
Chr20:47990228 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003082220] Chr20:49482253 [GRCh38]
Chr20:48098790 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1661G>A (p.Ser554Asn) single nucleotide variant Inborn genetic diseases [RCV002919307] Chr20:49373899 [GRCh38]
Chr20:47990436 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.270C>T (p.Gly90=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002852791] Chr20:49482211 [GRCh38]
Chr20:48098748 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002644373] Chr20:49373358 [GRCh38]
Chr20:47989895 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002828131] Chr20:49373194 [GRCh38]
Chr20:47989731 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.466C>A (p.Arg156=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002575508] Chr20:49482015 [GRCh38]
Chr20:48098552 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002828145] Chr20:49482390 [GRCh38]
Chr20:48098927 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.336G>A (p.Ala112=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003041643] Chr20:49482145 [GRCh38]
Chr20:48098682 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002985555] Chr20:49373464 [GRCh38]
Chr20:47990001 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002573069] Chr20:49374835 [GRCh38]
Chr20:47991372 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003057241] Chr20:49374125 [GRCh38]
Chr20:47990662 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002872613] Chr20:49373979 [GRCh38]
Chr20:47990516 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003058925] Chr20:49373985 [GRCh38]
Chr20:47990522 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003087819] Chr20:49372988 [GRCh38]
Chr20:47989525 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002651261]|Inborn genetic diseases [RCV003250815] Chr20:49373855 [GRCh38]
Chr20:47990392 [GRCh37]
Chr20:20q13.13		 benign|likely benign
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002601967] Chr20:49482476 [GRCh38]
Chr20:48099013 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.474G>C (p.Arg158=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002811096] Chr20:49482007 [GRCh38]
Chr20:48098544 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2035G>A (p.Gly679Ser) single nucleotide variant Inborn genetic diseases [RCV002747115] Chr20:49373525 [GRCh38]
Chr20:47990062 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002721017] Chr20:49373236 [GRCh38]
Chr20:47989773 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003088679] Chr20:49373719 [GRCh38]
Chr20:47990256 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002834819]|not provided [RCV004765574] Chr20:49482015 [GRCh38]
Chr20:48098552 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002715428] Chr20:49374210 [GRCh38]
Chr20:47990747 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002834726] Chr20:49373354 [GRCh38]
Chr20:47989891 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002899695] Chr20:49373359 [GRCh38]
Chr20:47989896 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003028237] Chr20:49374973 [GRCh38]
Chr20:47991510 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002631016] Chr20:49373707 [GRCh38]
Chr20:47990244 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.72G>A (p.Val24=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003063564] Chr20:49482409 [GRCh38]
Chr20:48098946 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002966652] Chr20:49374350 [GRCh38]
Chr20:47990887 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1971del (p.Lys658fs) deletion Developmental and epileptic encephalopathy, 26 [RCV002810862]|KCNB1-related disorder [RCV004529173] Chr20:49373589 [GRCh38]
Chr20:47990126 [GRCh37]
Chr20:20q13.13		 likely benign|uncertain significance
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002856837] Chr20:49374560 [GRCh38]
Chr20:47991097 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002856838] Chr20:49482237 [GRCh38]
Chr20:48098774 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002835354] Chr20:49373609 [GRCh38]
Chr20:47990146 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003032249] Chr20:49374953 [GRCh38]
Chr20:47991490 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002633492] Chr20:49373007 [GRCh38]
Chr20:47989544 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.753G>A (p.Ser251=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003093444] Chr20:49374807 [GRCh38]
Chr20:47991344 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003050202] Chr20:49374329 [GRCh38]
Chr20:47990866 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002654242] Chr20:49482419 [GRCh38]
Chr20:48098956 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002612846] Chr20:49482411 [GRCh38]
Chr20:48098948 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002583763] Chr20:49373932 [GRCh38]
Chr20:47990469 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.182G>A (p.Arg61His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002588851] Chr20:49482299 [GRCh38]
Chr20:48098836 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003068101] Chr20:49373481 [GRCh38]
Chr20:47990018 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV002815051] Chr20:49373520 [GRCh38]
Chr20:47990057 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003140631] Chr20:49374427 [GRCh38]
Chr20:47990964 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.949C>T (p.Leu317Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003142531] Chr20:49374611 [GRCh38]
Chr20:47991148 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003224694] Chr20:49373281 [GRCh38]
Chr20:47989818 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1178T>C (p.Val393Ala) single nucleotide variant not provided [RCV003323037] Chr20:49374382 [GRCh38]
Chr20:47990919 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1141G>A (p.Gly381Arg) single nucleotide variant not provided [RCV003320453] Chr20:49374419 [GRCh38]
Chr20:47990956 [GRCh37]
Chr20:20q13.13		 not provided
NM_004975.4(KCNB1):c.1599C>A (p.Tyr533Ter) single nucleotide variant not provided [RCV003320455] Chr20:49373961 [GRCh38]
Chr20:47990498 [GRCh37]
Chr20:20q13.13		 not provided
NM_004975.4(KCNB1):c.1298G>A (p.Arg433Gln) single nucleotide variant not provided [RCV003325666] Chr20:49374262 [GRCh38]
Chr20:47990799 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1020G>A (p.Met340Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003329206] Chr20:49374540 [GRCh38]
Chr20:47991077 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.117dup (p.Leu40fs) duplication not provided [RCV003329974] Chr20:49482363..49482364 [GRCh38]
Chr20:48098900..48098901 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.31C>A (p.Arg11Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003340791] Chr20:49482450 [GRCh38]
Chr20:48098987 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.926A>G (p.Lys309Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003337989] Chr20:49374634 [GRCh38]
Chr20:47991171 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003333643] Chr20:49374937 [GRCh38]
Chr20:47991474 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003335890] Chr20:49374973 [GRCh38]
Chr20:47991510 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003874172] Chr20:49481976 [GRCh38]
Chr20:48098513 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003875362] Chr20:49374265 [GRCh38]
Chr20:47990802 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2349T>A (p.Ser783Arg) single nucleotide variant KCNB1-related disorder [RCV004527956] Chr20:49373211 [GRCh38]
Chr20:47989748 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1570C>T (p.Leu524=) single nucleotide variant not specified [RCV003479882] Chr20:49373990 [GRCh38]
Chr20:47990527 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2470G>C (p.Gly824Arg) single nucleotide variant not provided [RCV003443413] Chr20:49373090 [GRCh38]
Chr20:47989627 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.166C>T (p.Arg56Trp) single nucleotide variant KCNB1-related disorder [RCV004529830]|not provided [RCV004698883] Chr20:49482315 [GRCh38]
Chr20:48098852 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2400C>T (p.Ser800=) single nucleotide variant not provided [RCV003431352] Chr20:49373160 [GRCh38]
Chr20:47989697 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1083C>A (p.Phe361Leu) single nucleotide variant not provided [RCV003443244] Chr20:49374477 [GRCh38]
Chr20:47991014 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1055C>T (p.Ala352Val) single nucleotide variant not provided [RCV003443749] Chr20:49374505 [GRCh38]
Chr20:47991042 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.22C>T (p.His8Tyr) single nucleotide variant KCNB1-related disorder [RCV004528655] Chr20:49482459 [GRCh38]
Chr20:48098996 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748492]|KCNB1-related disorder [RCV004529844] Chr20:49373453 [GRCh38]
Chr20:47989990 [GRCh37]
Chr20:20q13.13		 benign|uncertain significance
NM_004975.4(KCNB1):c.949_963del (p.Leu317_Gly321del) deletion KCNB1-related disorder [RCV004534228] Chr20:49374597..49374611 [GRCh38]
Chr20:47991134..47991148 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.377A>G (p.Glu126Gly) single nucleotide variant KCNB1-related disorder [RCV004528693] Chr20:49482104 [GRCh38]
Chr20:48098641 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.899G>A (p.Arg300His) single nucleotide variant not provided [RCV003441428] Chr20:49374661 [GRCh38]
Chr20:47991198 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.267G>A (p.Pro89=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003881567]|not provided [RCV003992800] Chr20:49482214 [GRCh38]
Chr20:48098751 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003831781] Chr20:49373020 [GRCh38]
Chr20:47989557 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586429]|not specified [RCV003489606] Chr20:49373387 [GRCh38]
Chr20:47989924 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749167]|not provided [RCV003992780] Chr20:49482450 [GRCh38]
Chr20:48098987 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749522] Chr20:49374743 [GRCh38]
Chr20:47991280 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749523] Chr20:49374271 [GRCh38]
Chr20:47990808 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749550] Chr20:49374770 [GRCh38]
Chr20:47991307 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749576]|KCNB1-related disorder [RCV004736370] Chr20:49373860 [GRCh38]
Chr20:47990397 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749881]|not provided [RCV004763740] Chr20:49482040 [GRCh38]
Chr20:48098577 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749160] Chr20:49373884 [GRCh38]
Chr20:47990421 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749264] Chr20:49373909 [GRCh38]
Chr20:47990446 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749275] Chr20:49374848 [GRCh38]
Chr20:47991385 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749462] Chr20:49374572 [GRCh38]
Chr20:47991109 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.666G>A (p.Gln222=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003750180]|KCNB1-related disorder [RCV004542209] Chr20:49374894 [GRCh38]
Chr20:47991431 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586484] Chr20:49373286 [GRCh38]
Chr20:47989823 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586510] Chr20:49482046 [GRCh38]
Chr20:48098583 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.603C>T (p.Leu201=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749209] Chr20:49374957 [GRCh38]
Chr20:47991494 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749598] Chr20:49373822 [GRCh38]
Chr20:47990359 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.816A>G (p.Pro272=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586458] Chr20:49374744 [GRCh38]
Chr20:47991281 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586459] Chr20:49373113 [GRCh38]
Chr20:47989650 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.456C>G (p.Ala152=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749078] Chr20:49482025 [GRCh38]
Chr20:48098562 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749471] Chr20:49373322 [GRCh38]
Chr20:47989859 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.12C>T (p.Gly4=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749488] Chr20:49482469 [GRCh38]
Chr20:48099006 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003750117] Chr20:49373262 [GRCh38]
Chr20:47989799 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003750123] Chr20:49373069 [GRCh38]
Chr20:47989606 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003855814] Chr20:49482474 [GRCh38]
Chr20:48099011 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748998] Chr20:49374042 [GRCh38]
Chr20:47990579 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749149] Chr20:49373485 [GRCh38]
Chr20:47990022 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749516] Chr20:49373578 [GRCh38]
Chr20:47990115 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749189] Chr20:49373014 [GRCh38]
Chr20:47989551 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749203] Chr20:49482399 [GRCh38]
Chr20:48098936 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749843] Chr20:49373614 [GRCh38]
Chr20:47990151 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.831T>C (p.Ile277=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749981] Chr20:49374729 [GRCh38]
Chr20:47991266 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749443] Chr20:49374498 [GRCh38]
Chr20:47991035 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003749420] Chr20:49373967 [GRCh38]
Chr20:47990504 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003750053] Chr20:49374272 [GRCh38]
Chr20:47990809 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003750134] Chr20:49373099 [GRCh38]
Chr20:47989636 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586958] Chr20:49374175 [GRCh38]
Chr20:47990712 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586742] Chr20:49481928 [GRCh38]
Chr20:48098465 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587561] Chr20:49482278 [GRCh38]
Chr20:48098815 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587846] Chr20:49373549 [GRCh38]
Chr20:47990086 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587789] Chr20:49374342 [GRCh38]
Chr20:47990879 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587189] Chr20:49373995 [GRCh38]
Chr20:47990532 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.368del (p.Gly123fs) deletion Developmental and epileptic encephalopathy, 26 [RCV003586662] Chr20:49482113 [GRCh38]
Chr20:48098650 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587480] Chr20:49482246 [GRCh38]
Chr20:48098783 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003860927] Chr20:49373625 [GRCh38]
Chr20:47990162 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.336G>T (p.Ala112=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748026] Chr20:49482145 [GRCh38]
Chr20:48098682 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003588041] Chr20:49374421 [GRCh38]
Chr20:47990958 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003588032] Chr20:49373634 [GRCh38]
Chr20:47990171 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.270C>A (p.Gly90=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586905] Chr20:49482211 [GRCh38]
Chr20:48098748 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586956] Chr20:49373812 [GRCh38]
Chr20:47990349 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003747708] Chr20:49373247 [GRCh38]
Chr20:47989784 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.264C>T (p.His88=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748597] Chr20:49482217 [GRCh38]
Chr20:48098754 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748643] Chr20:49374150 [GRCh38]
Chr20:47990687 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587624] Chr20:49373241 [GRCh38]
Chr20:47989778 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.183C>T (p.Arg61=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003588017] Chr20:49482298 [GRCh38]
Chr20:48098835 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586797] Chr20:49374509 [GRCh38]
Chr20:47991046 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003747957] Chr20:49374157 [GRCh38]
Chr20:47990694 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.537G>T (p.Leu179=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748625] Chr20:49481944 [GRCh38]
Chr20:48098481 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748637] Chr20:49373191 [GRCh38]
Chr20:47989728 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748650] Chr20:49482242 [GRCh38]
Chr20:48098779 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003747702] Chr20:49373710 [GRCh38]
Chr20:47990247 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003748761] Chr20:49373432 [GRCh38]
Chr20:47989969 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003747946] Chr20:49373020 [GRCh38]
Chr20:47989557 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587414] Chr20:49373291 [GRCh38]
Chr20:47989828 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003841323] Chr20:49374075 [GRCh38]
Chr20:47990612 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587591] Chr20:49374111 [GRCh38]
Chr20:47990648 [GRCh37]
Chr20:20q13.13		 benign
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587627] Chr20:49373022 [GRCh38]
Chr20:47989559 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586566] Chr20:49373721 [GRCh38]
Chr20:47990258 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587933] Chr20:49374379 [GRCh38]
Chr20:47990916 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587961] Chr20:49373931 [GRCh38]
Chr20:47990468 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587748] Chr20:49374480 [GRCh38]
Chr20:47991017 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586592] Chr20:49373812 [GRCh38]
Chr20:47990349 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586756] Chr20:49374386 [GRCh38]
Chr20:47990923 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586683] Chr20:49373858 [GRCh38]
Chr20:47990395 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586657] Chr20:49374558 [GRCh38]
Chr20:47991095 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586824] Chr20:49373105 [GRCh38]
Chr20:47989642 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586780] Chr20:49373457 [GRCh38]
Chr20:47989994 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.789T>C (p.Asn263=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586894] Chr20:49374771 [GRCh38]
Chr20:47991308 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003845468] Chr20:49373619 [GRCh38]
Chr20:47990156 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003586952] Chr20:49373493 [GRCh38]
Chr20:47990030 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587111] Chr20:49482465 [GRCh38]
Chr20:48099002 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003843843] Chr20:49374142 [GRCh38]
Chr20:47990679 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.108C>T (p.Asn36=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587183] Chr20:49482373 [GRCh38]
Chr20:48098910 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003587348] Chr20:49374414 [GRCh38]
Chr20:47990951 [GRCh37]
Chr20:20q13.13		 likely benign
NM_004975.4(KCNB1):c.446A>G (p.Lys149Arg) single nucleotide variant not provided [RCV003884994] Chr20:49482035 [GRCh38]
Chr20:48098572 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003985182] Chr20:49374878 [GRCh38]
Chr20:47991415 [GRCh37]
Chr20:20q13.13		 pathogenic
NM_004975.4(KCNB1):c.298C>T (p.Arg100Cys) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV003984936] Chr20:49482183 [GRCh38]
Chr20:48098720 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2130del (p.Cys710fs) deletion Developmental and epileptic encephalopathy, 26 [RCV003992122] Chr20:49373430 [GRCh38]
Chr20:47989967 [GRCh37]
Chr20:20q13.13		 likely pathogenic
NM_004975.4(KCNB1):c.1701C>A (p.Ser567Arg) single nucleotide variant Inborn genetic diseases [RCV004405972] Chr20:49373859 [GRCh38]
Chr20:47990396 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1977T>G (p.Ser659Arg) single nucleotide variant Inborn genetic diseases [RCV004405974] Chr20:49373583 [GRCh38]
Chr20:47990120 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.370del (p.Ile124fs) deletion Inborn genetic diseases [RCV004405976] Chr20:49482111 [GRCh38]
Chr20:48098648 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.575C>T (p.Ala192Val) single nucleotide variant Inborn genetic diseases [RCV004405977] Chr20:49374985 [GRCh38]
Chr20:47991522 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.479G>A (p.Gly160Asp) single nucleotide variant Inborn genetic diseases [RCV004636041] Chr20:49482002 [GRCh38]
Chr20:48098539 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2378A>G (p.Glu793Gly) single nucleotide variant Inborn genetic diseases [RCV004636042] Chr20:49373182 [GRCh38]
Chr20:47989719 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2264A>G (p.Tyr755Cys) single nucleotide variant not specified [RCV004587867] Chr20:49373296 [GRCh38]
Chr20:47989833 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.614C>T (p.Ala205Val) single nucleotide variant not provided [RCV004585719] Chr20:49374946 [GRCh38]
Chr20:47991483 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1349T>C (p.Met450Thr) single nucleotide variant Developmental and epileptic encephalopathy, 26 [RCV004595408]|KCNB1-related disorder [RCV004736445] Chr20:49374211 [GRCh38]
Chr20:47990748 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2510T>C (p.Ile837Thr) single nucleotide variant not specified [RCV004700098] Chr20:49373050 [GRCh38]
Chr20:47989587 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.699G>T (p.Glu233Asp) single nucleotide variant KCNB1-related disorder [RCV004724535] Chr20:49374861 [GRCh38]
Chr20:47991398 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1422G>C (p.Lys474Asn) single nucleotide variant not provided [RCV004770660] Chr20:49374138 [GRCh38]
Chr20:47990675 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.2190T>A (p.Ser730Arg) single nucleotide variant not provided [RCV004760234]   uncertain significance
NM_004975.4(KCNB1):c.2191G>C (p.Ala731Pro) single nucleotide variant not provided [RCV004726063] Chr20:49373369 [GRCh38]
Chr20:47989906 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.322GAG[1] (p.Glu109del) microsatellite not provided [RCV004773460] Chr20:49482154..49482156 [GRCh38]
Chr20:48098691..48098693 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.947G>A (p.Gly316Asp) single nucleotide variant not provided [RCV004725955] Chr20:49374613 [GRCh38]
Chr20:47991150 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.566A>T (p.Lys189Met) single nucleotide variant not provided [RCV004724010] Chr20:49481915 [GRCh38]
Chr20:48098452 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.148G>A (p.Asp50Asn) single nucleotide variant not provided [RCV004771904] Chr20:49482333 [GRCh38]
Chr20:48098870 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.1811T>A (p.Phe604Tyr) single nucleotide variant not provided [RCV004768299] Chr20:49373749 [GRCh38]
Chr20:47990286 [GRCh37]
Chr20:20q13.13		 uncertain significance
NM_004975.4(KCNB1):c.711_712delinsGCGAT (p.Ile237_Ala238delinsMetArgSer) indel not provided [RCV004761453]   uncertain significance
NM_004975.4(KCNB1):c.1892G>A (p.Gly631Asp) single nucleotide variant not provided [RCV004774804] Chr20:49373668 [GRCh38]
Chr20:47990205 [GRCh37]
Chr20:20q13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3695
Count of miRNA genes:1210
Interacting mature miRNAs:1522
Transcripts:ENST00000371741
Prediction methods:Miranda
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406977985GWAS626961_Hdepressive symptom measurement QTL GWAS626961 (human)3e-09depressive symptom measurement204948094449480945Human
407274501GWAS923477_Hbody height QTL GWAS923477 (human)1e-10body height (VT:0001253)body height (CMO:0000106)204947805349478054Human
406979655GWAS628631_Hdepressive symptom measurement QTL GWAS628631 (human)9e-10unipolar depression204942467449424675Human
407124941GWAS773917_Henergy expenditure QTL GWAS773917 (human)0.000008energy expenditure trait (VT:0005450)204940328149403282Human
406913419GWAS562395_Hbipolar disorder QTL GWAS562395 (human)4e-09bipolar disorder204941659049416591Human
406977803GWAS626779_Hbipolar disorder QTL GWAS626779 (human)2e-08bipolar disorder204947424249474243Human
407414467GWAS1063443_Hdiastolic blood pressure QTL GWAS1063443 (human)5e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)204938770149387702Human
407308746GWAS957722_Hdiastolic blood pressure QTL GWAS957722 (human)4e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)204938770149387702Human
407113739GWAS762715_Hmathematical ability QTL GWAS762715 (human)3e-10mathematical ability204947552749475528Human
407188949GWAS837925_Hblood lead measurement QTL GWAS837925 (human)0.000007blood lead measurement204947785449477855Human
407151254GWAS800230_Hunipolar depression QTL GWAS800230 (human)9e-09wellbeing measurement204942643349426434Human
407257301GWAS906277_Hschizophrenia QTL GWAS906277 (human)1e-10schizophrenia204947424249474243Human
407029718GWAS678694_Hwhite matter hyperintensity measurement QTL GWAS678694 (human)0.000006white matter hyperintensity measurement204944232649442327Human
407412958GWAS1061934_Hdiastolic blood pressure QTL GWAS1061934 (human)4e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)204939447149394472Human
407136028GWAS785004_Hschizophrenia QTL GWAS785004 (human)0.000002schizophrenia204942643349426434Human
407176025GWAS825001_Hbipolar I disorder QTL GWAS825001 (human)2e-11bipolar I disorder204943296949432970Human
407063135GWAS712111_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS712111 (human)3e-09obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa204947424249474243Human
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
407253156GWAS902132_Hwellbeing measurement QTL GWAS902132 (human)3e-09wellbeing measurement204942643349426434Human
407101217GWAS750193_Hmathematical ability QTL GWAS750193 (human)3e-11mathematical ability204947552749475528Human
407409196GWAS1058172_Hdiastolic blood pressure QTL GWAS1058172 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)204939447149394472Human
407251694GWAS900670_Hdepressive symptom measurement QTL GWAS900670 (human)2e-09wellbeing measurement204942643349426434Human
406984360GWAS633336_HQT interval QTL GWAS633336 (human)0.000005QT intervalQT interval (CMO:0000235)204936559149365592Human
407029998GWAS678974_Hwhite matter hyperintensity measurement QTL GWAS678974 (human)0.000001white matter hyperintensity measurement204944232649442327Human
407145193GWAS794169_Hserum alanine aminotransferase measurement, response to combination chemotherapy QTL GWAS794169 (human)0.000002serum alanine aminotransferase measurement, response to combination chemotherapyserum alanine aminotransferase activity level (CMO:0000575)204937426449374265Human
406895280GWAS544256_Hcolorectal health QTL GWAS544256 (human)0.000006colorectal health204945937549459376Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
406922485GWAS571461_Hdiastolic blood pressure, systolic blood pressure QTL GWAS571461 (human)0.000004diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)204940082949400830Human
407163325GWAS812301_Hdiastolic blood pressure QTL GWAS812301 (human)0.000004diastolic blood pressurediastolic blood pressure (CMO:0000005)204939447149394472Human
406907002GWAS555978_Hdiastolic blood pressure, systolic blood pressure QTL GWAS555978 (human)0.0000001diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)204940082949400830Human
406977983GWAS626959_Hdepressive symptom measurement QTL GWAS626959 (human)6e-11depressive symptom measurement204942643349426434Human

Markers in Region
D20S809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372048,033,063 - 48,033,296UniSTSGRCh37
Build 362047,466,470 - 47,466,703RGDNCBI36
Celera2044,737,686 - 44,737,919RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,781,628 - 44,781,861UniSTS
Stanford-G3 RH Map202440.0UniSTS
NCBI RH Map20508.7UniSTS
AL031795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372048,078,039 - 48,078,190UniSTSGRCh37
Build 362047,511,446 - 47,511,597RGDNCBI36
Celera2044,782,669 - 44,782,820RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,826,609 - 44,826,760UniSTS
KCNB1_1313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372047,988,412 - 47,989,302UniSTSGRCh37
Build 362047,421,819 - 47,422,709RGDNCBI36
Celera2044,693,029 - 44,693,919RGD
HuRef2044,736,974 - 44,737,864UniSTS
D20S1096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372047,989,108 - 47,989,446UniSTSGRCh37
Build 362047,422,515 - 47,422,853RGDNCBI36
Celera2044,693,725 - 44,694,063RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,737,670 - 44,738,008UniSTS
GeneMap99-GB4 RH Map20270.83UniSTS
GeneMap99-GB4 RH Map20271.96UniSTS
Whitehead-RH Map20313.4UniSTS
GeneMap99-G3 RH Map202473.0UniSTS
G01535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372048,012,827 - 48,013,010UniSTSGRCh37
Build 362047,446,234 - 47,446,417RGDNCBI36
Celera2044,717,453 - 44,717,636RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,761,377 - 44,761,575UniSTS
SHGC-31067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372047,988,542 - 47,988,645UniSTSGRCh37
Build 362047,421,949 - 47,422,052RGDNCBI36
Celera2044,693,159 - 44,693,262RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,737,104 - 44,737,207UniSTS
GeneMap99-GB4 RH Map20290.92UniSTS
Whitehead-RH Map20313.2UniSTS
GeneMap99-G3 RH Map202473.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2297 2788 2224 4872 1690 2213 1 600 1308 439 2205 6461 5804 40 3696 771 1657 1507 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF026005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H12055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L02840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000371741   ⟹   ENSP00000360806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,363,877 - 49,482,668 (-)Ensembl
Ensembl Acc Id: ENST00000635210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,374,800 - 49,387,005 (-)Ensembl
Ensembl Acc Id: ENST00000635465   ⟹   ENSP00000489193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,371,968 - 49,484,297 (-)Ensembl
Ensembl Acc Id: ENST00000635809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,482,571 - 49,483,334 (-)Ensembl
Ensembl Acc Id: ENST00000635878   ⟹   ENSP00000489908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,298,107 - 49,482,009 (-)Ensembl
Ensembl Acc Id: ENST00000636838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,293,394 - 49,372,950 (-)Ensembl
Ensembl Acc Id: ENST00000636950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,451,333 - 49,482,000 (-)Ensembl
Ensembl Acc Id: ENST00000637131   ⟹   ENSP00000489766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,310,513 - 49,373,103 (-)Ensembl
Ensembl Acc Id: ENST00000637357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2049,476,361 - 49,482,000 (-)Ensembl
RefSeq Acc Id: NM_004975   ⟹   NP_004966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,363,877 - 49,482,668 (-)NCBI
GRCh372047,988,505 - 48,099,181 (-)ENTREZGENE
Build 362047,421,912 - 47,532,588 (-)NCBI Archive
HuRef2044,737,067 - 44,847,754 (-)ENTREZGENE
CHM1_12047,884,803 - 48,003,606 (-)NCBI
T2T-CHM13v2.02051,133,489 - 51,252,284 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528799   ⟹   XP_011527101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,363,877 - 49,483,362 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054323413   ⟹   XP_054179388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02051,133,489 - 51,253,649 (-)NCBI
RefSeq Acc Id: XM_054323414   ⟹   XP_054179389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02051,133,489 - 51,253,055 (-)NCBI
RefSeq Acc Id: NP_004966   ⟸   NM_004975
- UniProtKB: Q14193 (UniProtKB/Swiss-Prot),   Q14721 (UniProtKB/Swiss-Prot),   Q2NLD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527101   ⟸   XM_011528799
- Peptide Label: isoform X1
- UniProtKB: Q14193 (UniProtKB/Swiss-Prot),   Q14721 (UniProtKB/Swiss-Prot),   Q2NLD5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000489193   ⟸   ENST00000635465
Ensembl Acc Id: ENSP00000360806   ⟸   ENST00000371741
Ensembl Acc Id: ENSP00000489908   ⟸   ENST00000635878
Ensembl Acc Id: ENSP00000489766   ⟸   ENST00000637131
RefSeq Acc Id: XP_054179388   ⟸   XM_054323413
- Peptide Label: isoform X1
- UniProtKB: Q14721 (UniProtKB/Swiss-Prot),   Q14193 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179389   ⟸   XM_054323414
- Peptide Label: isoform X1
- UniProtKB: Q14721 (UniProtKB/Swiss-Prot),   Q14193 (UniProtKB/Swiss-Prot)
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14721-F1-model_v2 AlphaFold Q14721 1-858 view protein structure

Promoters
RGD ID:13207225
Promoter ID:EPDNEW_H27193
Type:initiation region
Name:KCNB1_2
Description:potassium voltage-gated channel subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27194  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,482,668 - 49,482,728EPDNEW
RGD ID:13207227
Promoter ID:EPDNEW_H27194
Type:initiation region
Name:KCNB1_1
Description:potassium voltage-gated channel subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27193  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,484,278 - 49,484,338EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6231 AgrOrtholog
COSMIC KCNB1 COSMIC
Ensembl Genes ENSG00000158445 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371741 ENTREZGENE
  ENST00000371741.6 UniProtKB/Swiss-Prot
  ENST00000635465.1 UniProtKB/Swiss-Prot
  ENST00000635878.1 UniProtKB/TrEMBL
  ENST00000637131.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158445 GTEx
HGNC ID HGNC:6231 ENTREZGENE
Human Proteome Map KCNB1 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_Kv2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv2.1 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:3745 UniProtKB/Swiss-Prot
NCBI Gene 3745 ENTREZGENE
OMIM 600397 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY B MEMBER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kv2channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA209 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KV21CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHABCHANNEL 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 A0A1B0GTM8_HUMAN UniProtKB/TrEMBL
  A0A1B0GU02_HUMAN UniProtKB/TrEMBL
  KCNB1_HUMAN UniProtKB/Swiss-Prot
  Q14193 ENTREZGENE
  Q14721 ENTREZGENE
  Q2NLD5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14193 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNB1  potassium voltage-gated channel subfamily B member 1  KCNB1  potassium channel, voltage gated Shab related subfamily B, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNB1  potassium channel, voltage gated Shab related subfamily B, member 1  KCNB1  potassium voltage-gated channel, Shab-related subfamily, member 1  Symbol and/or name change 5135510 APPROVED