A0A0D9SEY3 · A0A0D9SEY3_HUMAN

  • Protein
    Potassium sodium-activated channel subfamily T member 1
  • Gene
    KCNT1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

112371002003004005006007008009001,0001,1001,200
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14837052023R>QTOPMed
gnomAD
rs18303532895K>ETOPMed
gnomAD
rs18303532895K>QTOPMed
gnomAD
rs12579740157P>LgnomAD
rs11888763437P>STOPMed
gnomAD
rs18303539209S>LTOPMed
rs18303537909S>TEnsembl
rs128144277210P>LTOPMed
gnomAD
rs128144277210P>RTOPMed
gnomAD
rs131589918412E>KTOPMed
gnomAD
rs156433218413G>SEnsembl
rs183035511716G>VTOPMed
gnomAD
COSV5370408617P>Rcosmic curated
rs130315828118G>VTOPMed
gnomAD
rs141015388418G>WTOPMed
gnomAD
rs183035578519G>DEnsembl
rs103434476219G>STOPMed
gnomAD
rs183035599220A>GEnsembl
rs116144536720A>PTOPMed
gnomAD
rs116144536720A>TTOPMed
gnomAD
rs213137310921P>SEnsembl
rs183035624623G>DTOPMed
gnomAD
rs117480226524A>TTOPMed
gnomAD
rs11353983925A>GEnsembl
rs125731778025A>TTOPMed
gnomAD
rs11353983925A>VEnsembl
rs183035684726A>VEnsembl
rs101435253127P>RTOPMed
gnomAD
rs135688361327P>SgnomAD
rs183035734632G>WTOPMed
rs121009968734S>RTOPMed
gnomAD
rs96797686435P>TTOPMed
gnomAD
rs183035785436L>QEnsembl
rs54796427438P>L1000Genomes
TOPMed
gnomAD
rs54796427438P>Q1000Genomes
TOPMed
gnomAD
rs123139621338P>STOPMed
rs131324131940R>CTOPMed
rs138142541941G>SEnsembl
rs183035868142G>ETOPMed
rs183035856142G>RTOPMed
rs183035879643G>DgnomAD
rs183035879643G>VgnomAD
rs183035906644S>PEnsembl
rs213137326445V>LEnsembl
rs129081849347S>GTOPMed
rs183035961749V>ATOPMed
rs92623659849V>L1000Genomes
TOPMed
gnomAD
rs92623659849V>M1000Genomes
TOPMed
gnomAD
rs183035988550G>DTOPMed
rs183035974250G>STOPMed
gnomAD
rs95799608654P>STOPMed
rs98810324156E>*TOPMed
gnomAD
rs98810324156E>KTOPMed
gnomAD
rs120280734358F>LgnomAD
rs183063344159S>ITOPMed
rs183063364761D>EgnomAD
rs145094124261D>NTOPMed
gnomAD
rs76884960562S>FTOPMed
gnomAD
rs146869910265S>FTOPMed
gnomAD
RCV001947128
RCV003487813
rs1172819191
67V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs56704137768Q>*1000Genomes
ExAC
COSV5370353269V>Lcosmic curated
rs74678890069V>MExAC
gnomAD
COSV9970500170E>Dcosmic curated
COSV53699122
COSV53695892
71F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA Cosmic
RCV001296310
rs1049280147
72Y>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV9970613072Y>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75907581873V>AExAC
gnomAD
COSV53698199
RCV000992238
RCV001202825
RCV002271149
RCV002271150
rs776233220
73V>I
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53698718
rs1831065611
75E>KVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
rs183106581376N>DTOPMed
rs125121675378F>LgnomAD
CA243474
COSV99036678
RCV000177321
RCV001852188
rs752032951
81R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53698088
RCV001295351
RCV002512150
rs1831067002
81R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
rs117905282283K>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV5370349483K>Rcosmic curated
COSV9970554985F>Lcosmic curated
COSV5371000886F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145399787187I>TTOPMed
gnomAD
COSV5370542588K>Qcosmic curated
rs119444260188K>RgnomAD
rs147981339989N>KVariant of uncertain significance (Ensembl)Ensembl
rs183106862290Q>KEnsembl
COSV9970653792S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5370259892S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs124136347293S>NgnomAD
RCV000824132
rs1588309597
94L>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs77955540796I>MExAC
gnomAD
COSV9970556596I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs74887312097R>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001893615
rs748873120
97R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53697267
RCV001219586
RCV002466636
rs1588309625
97R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs76801385899F>LExAC
gnomAD
RCV001768535
RCV002540248
rs1831125430
100N>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs1165053317100N>SgnomAD
COSV106394623102S>Fcosmic curated
COSV53712420102S>Ycosmic curated
rs1415252344105L>MgnomAD
rs1415252344105L>VgnomAD
rs1346233148107T>PgnomAD
rs1346233148107T>SgnomAD
rs2131411208108C>SEnsembl
COSV53710149
rs1299714104
108C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV53709360109L>Mcosmic curated
rs1402206752110L>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV000688139
RCV001310684
RCV002270965
RCV002270966
rs1402206752
110L>I
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV000992239
RCV002271151
RCV002271152
RCV003769313
rs1402206752
110L>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1311387075112I>TgnomAD
rs1831128937112I>VEnsembl
rs772699770113V>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs772699770113V>MVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV99707226
rs773766129
114R>CVariant of uncertain significance (Ensembl)cosmic curated
ExAC
gnomAD
COSV99705676
RCV000802828
RCV002292582
rs201295824
114R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs773766129114R>SVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001214419
rs766663683
115V>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs776675825115V>GExAC
gnomAD
CA5326400
COSV53709929
RCV000650629
rs766663683
115V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs765241934118D>EExAC
gnomAD
COSV53707556118D>Ncosmic curated
COSV53707875118D>Vcosmic curated
rs751504173120P>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV53708963120P>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105045326120P>Scosmic curated
rs1188497262121A>SgnomAD
RCV001886338
rs2131411420
121A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV99706623122L>Mcosmic curated
COSV53700186123G>Dcosmic curated
RCV002010661
rs1831131534
123G>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53711457125G>*cosmic curated
COSV53708712
RCV001227616
rs1157678641
125G>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
RCV001346065
rs1831132002
126C>Y
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV99706995127W>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53708438130P>Lcosmic curated
rs2131422856131K>EEnsembl
rs1382557245132Q>*gnomAD
RCV001787619
rs1831337399
132Q>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV99036669132Q>Lcosmic curated
RCV001264664
rs1831337271
132Q>RLikely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53695051133N>Kcosmic curated
RCV001867451
rs757995472
134Y>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53707324135S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs776438645136F>IEnsembl
RCV001485603
rs200632957
137N>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs925148475138D>GEnsembl
COSV53704218139S>*cosmic curated
COSV53704218
COSV53706147
RCV001920578
rs751075368
139S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002039764
rs2131422984
140S>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53695604141S>Fcosmic curated
COSV99705558
RCV001236232
rs770108075
142E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs780280853144N>SVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV53700796
COSV99705729
146A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs149908455146A>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
RCV001986194
RCV002335025
rs149908455
146A>T
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53700796
COSV99705729
RCV002029297
rs1359744304
146A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs761255519147P>LLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV53704435147P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99706490149L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99704860149L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1831399438150W>*gnomAD
COSV53701283152E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs750936339154K>QExAC
gnomAD
RCV001981914
rs1028292080
154K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
CA5326487
RCV000425920
RCV000444916
RCV001081817
RCV002313959
RCV003939883
rs147551342
155M>I
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1831400330155M>LgnomAD
COSV53699205156T>Icosmic curated
rs1831401093157L>QTOPMed
rs1395075330157L>VLikely benign (Ensembl)gnomAD
CA5326488
COSV104375600
RCV000419340
RCV000865839
RCV002270412
RCV002270413
RCV003932664
rs141961737
159A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV99705902160I>Vcosmic curated
RCV001305134
rs751729308
164V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001295741
rs757371759
165A>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99707276165A>Vcosmic curated
RCV001338211
rs1588321846
166I>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001370849
rs2131434707
166I>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs780164645167I>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1831515251167I>TTOPMed
gnomAD
RCV001934633
RCV002548069
rs1831515095
167I>V
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53706058168S>Icosmic curated
rs1831515528169F>STOPMed
RCV001883734
rs749194581
170L>P
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs1831515969171E>DTOPMed
gnomAD
COSV53701270
RCV001987768
RCV002562956
rs1429039180
172T>M
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
CA375497055
RCV000523372
rs1429039180
172T>RVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1831516100172T>SEnsembl
rs1564351394173M>LEnsembl
rs1831516859174L>PEnsembl
rs147846246175L>PESP
ExAC
rs1341717090176I>FgnomAD
rs1341717090176I>VgnomAD
rs1376281716177Y>CgnomAD
rs772807378177Y>HExAC
TOPMed
gnomAD
COSV53709143178L>Fcosmic curated
RCV001771517
rs2131434975
179S>GVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1229138685179S>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs758191094182G>CExAC
gnomAD
COSV53709571183N>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs777610977184I>VExAC
gnomAD
COSV107221930185W>*cosmic curated
COSV105045318186E>Gcosmic curated
COSV107221975186E>Kcosmic curated
RCV002037055
rs1192150242
187Q>*
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV002246920
rs958688368
187Q>HLikely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1831551067188I>VVariant of uncertain significance (Ensembl)TOPMed
COSV53697213
RCV002067027
RCV002270994
RCV002270995
RCV002314592
RCV002512126
rs568539413
190R>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV99705943
RCV000696130
RCV002317922
rs756952430
190R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1831552074191V>AEnsembl
COSV53703148
rs780676286
191V>Mcosmic curated
ExAC
gnomAD
rs1588323219194V>AEnsembl
CA5326579
RCV000444548
RCV001049872
rs143536408
194V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV107221899
rs1209398053
196E>Kcosmic curated
TOPMed
gnomAD
rs769285406197M>IVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001983658
rs1217512521
198I>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1831555572198I>TTOPMed
rs774916717198I>VExAC
gnomAD
rs1831555885200T>PEnsembl
rs762251339201L>VLikely benign (Ensembl)ExAC
gnomAD
COSV53701090202P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV000658265
rs1554770959
205I>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV000659133
rs1554770961
206T>AVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs767824652206T>MExAC
gnomAD
rs755657007208F>LExAC
gnomAD
rs755657007208F>VExAC
gnomAD
rs528081292209W>CgnomAD
COSV107221968
rs779498481
210P>LVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs1488258845210P>SgnomAD
COSV53696046
rs1831563195
213R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV108014611
rs1468077288
213R>WVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
COSV53700644214N>Kcosmic curated
RCV001886657
rs201583448
215L>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs1369296811217I>NgnomAD
COSV53701306218P>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99704944218P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs748541587218P>RExAC
gnomAD
RCV001958479
rs760870883
219V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1393815750223C>FgnomAD
COSV53704099
rs1311337366
224W>*cosmic curated
gnomAD
rs1246462476225L>PgnomAD
rs1353434991226A>VgnomAD
rs1218041775228H>QLikely benign (Ensembl)TOPMed
gnomAD
rs111498528228H>REnsembl
rs764050624229A>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs764050624229A>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs764050624229A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs575954363229A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
dbSNP
gnomAD
COSV53709059231E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs750230295231E>QVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs867047100232N>IEnsembl
CA375497635
RCV000650632
rs755782470
RCV002026216
233M>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1315519442238H>NTOPMed
rs1588327142238H>PEnsembl
COSV107221909
rs766205352
239R>CVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs766205352239R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV53699969
rs1172086515
239R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
RCV001071952
rs1831666357
240A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5326653
RCV000381563
RCV000546728
RCV002270217
RCV002270218
rs776559951
240A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001774143
rs1831666807
241I>MVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1294418231242L>PgnomAD
CA375498111
CM159165
COSV53706435
RCV000497817
RCV001058624
RCV001526614
RCV002413365
rs1554771469
243R>Q
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV53695489
RCV001767664
RCV001868485
rs375711140
243R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1408290051244T>ITOPMed
gnomAD
rs1277700294245Q>*Variant of uncertain significance (Ensembl)gnomAD
RCV001297848
rs1341175923
247A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV000680018
RCV001266677
RCV002531409
RCV003420198
rs1564354299
248M>T
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1382393432248M>VgnomAD
CA375498221
RCV000514688
rs1554771476
251Q>EPathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001091222
rs1831669014
252V>FPathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs757884130253L>FVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001952356
rs757884130
253L>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs757884130253L>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV53695329
rs1220559272
254I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs2131444644256F>Y1000Genomes
COSV99705544259L>Mcosmic curated
COSV53696703260L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1160972448261C>FVariant of uncertain significance (Ensembl)TOPMed
RCV001961262
rs1160972448
261C>Y
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
RCV002250069
RCV003222404
rs1057522914
262L>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA16605720
RCV000418409
rs1057522914
262L>IPathogenic (Ensembl)ClinGen
ClinVar
Ensembl
dbSNP
rs749361686263V>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1181887876265T>ATOPMed
COSV53694844265T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA5326667
COSV53696811
RCV000551910
rs376583438
265T>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53700058266G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104556846
COSV53704652
266G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA Cosmic
COSV99706815268C>*cosmic curated
CM1310284
COSV99706005
RCV002003533
rs587777264
269G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl)NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
VAR_078683
CA151134
RCV000114361
RCV000255411
RCV000627792
RCV001265540
rs587777264
269G>S
DEE14 (UniProt)
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs1831776715274E>GTOPMed
COSV53695435275R>Qcosmic curated
COSV99706334
RCV001331153
rs369101729
275R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1272987725276A>ELikely pathogenic (Ensembl)TOPMed
gnomAD
RCV002251705
rs1272987725
276A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely pathogenic (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53695730
RCV001347977
rs1831777941
277G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
rs146070496278E>*Variant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV53698946278E>Gcosmic curated
CA239655
RCV000174154
RCV000650653
RCV002372085
rs146070496
278E>K
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1315701914279N>DgnomAD
COSV99707004281S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001323228
RCV002271002
RCV002271003
RCV002317601
rs1564356207
281S>P
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53701788282L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99704852282L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1831779903284T>ATOPMed
rs1831779903284T>STOPMed
CA16612548
RCV000459449
rs1060503697
285S>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV53698185286F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1197134262286F>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs878855057288F>LLikely benign (Ensembl)TOPMed
COSV53694954
rs779964634
290I>Vcosmic curated
ExAC
gnomAD
CA10606221
RCV000405838
RCV000545226
RCV002270213
RCV002270214
rs149436191
291V>I
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
COSV104556774294S>Fcosmic curated
COSV53706823
rs773941339
296V>MVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV99706456299G>Ccosmic curated
COSV99706456
COSV99706836
RCV001314434
RCV003399091
rs1831783786
299G>S
KCNT1-related disorder (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV105045380300D>Ecosmic curated
COSV53695066
RCV001985014
RCV002473333
rs773718324
301V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV106394406
RCV000808323
RCV002381789
TCGA novel
rs1588330851
302T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
NCI-TCGA
TOPMed
dbSNP
COSV99706658303P>Lcosmic curated
RCV000701691
RCV001766539
RCV002270971
RCV002270972
rs978227077
304K>R
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
RCV001196425
RCV001226517
RCV002271189
rs1831785244
305I>M
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001904102
rs2131451388
305I>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs766769184
COSV53704454
306W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
ExAC
gnomAD
NCI-TCGA Cosmic
cosmic curated
rs1337774279306W>CgnomAD
RCV001172193
RCV002559650
rs777106178
307P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
COSV53706495
RCV001331154
rs1340962392
308S>L
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
dbSNP
gnomAD
COSV53695704309Q>*cosmic curated
RCV001937319
rs1289554527
309Q>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53701073313V>Gcosmic curated
RCV001065457
rs764327750
314I>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1831787938314I>VgnomAD
COSV53700077315M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1440911694315M>VTOPMed
gnomAD
rs1477529193316I>FVariant of uncertain significance (Ensembl)gnomAD
rs1243067841317C>YTOPMed
rs750233863318V>MVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs756116060319A>VExAC
gnomAD
RCV001194603
rs1831789627
320L>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs558837964321V>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
RCV001340114
rs558837964
321V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA375498728
RCV000493856
rs1131691442
326Q>KVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001219954
rs767434859
RCV001058382
327F>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99706509
rs913411736
328E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV106394610329E>Qcosmic curated
RCV001795622
rs1329791962
331V>A
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1329791962331V>DVariant of uncertain significance (Ensembl)gnomAD
rs759531782331V>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1832161668333L>ITOPMed
COSV53707757333L>Vcosmic curated
rs1325985301334W>*gnomAD
rs1196953770334W>CVariant of uncertain significance (Ensembl)gnomAD
rs928908248334W>REnsembl
COSV53703209335M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA16606388
RCV000438493
rs1057522923
335M>RLikely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV002028669
rs2131473380
335M>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1832162607336E>GgnomAD
rs752514808337R>GPathogenic (Ensembl)ExAC
gnomAD
CA5326764
COSV53700894
RCV000413789
RCV000554518
RCV002270240
RCV002270241
rs758152252
337R>Q
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA16605732
RCV000420451
RCV000795380
RCV002252125
rs752514808
337R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1177510700338Q>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1588342781340S>AEnsembl
COSV99706511
rs1832163598
340S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV53701115342G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99706726342G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1832164920345S>TEnsembl
COSV53708577
RCV001961464
rs751116785
346R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53696606
rs1044487630
346R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV53710321
COSV99706121
rs780633460
348R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV53711523
rs1400096269
348R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV99706121348R>Scosmic curated
rs565492968349A>SVariant of uncertain significance (Ensembl)1000Genomes
COSV53709937
RCV001035611
RCV002552455
rs928555901
349A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV53701189
RCV001877917
rs1284049151
351T>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
dbSNP
gnomAD
rs1269887483351T>SgnomAD
rs1217096141352E>DLikely benign (Ensembl)TOPMed
gnomAD
COSV108014404352E>Kcosmic curated
RCV002039594
rs2131473824
353K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53712177354H>Ncosmic curated
rs1308230788354H>RgnomAD
rs908848836354H>YEnsembl
COSV53703764
rs1274830087
355V>Mcosmic curated
TOPMed
gnomAD
rs1564362315357L>PEnsembl
COSV53710868357L>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001296041
rs1481122214
360S>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs765193021361S>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA5326780
COSV105822108
RCV000532844
rs765193021
361S>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53698927363K>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1270731587364I>SgnomAD
COSV53710369364I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs897661213364I>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV53702560
RCV000992237
RCV001051512
RCV002271147
RCV002271148
rs762752381
365D>N
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs751365926366L>FExAC
gnomAD
rs1421075885366L>HTOPMed
CA5326786
RCV000416014
RCV001203573
RCV001782897
rs780875110
367L>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53699827
RCV001325102
rs1832172453
368M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV53698065
rs1832172595
369D>Ncosmic curated
TOPMed
gnomAD
rs1362947276372N>DgnomAD
COSV99705177372N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA5326789
COSV53698685
RCV000543325
rs780708628
373E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1832173888374F>IEnsembl
COSV53699031
RCV002274553
RCV003774875
rs1832174053
374F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
rs1588343176375Y>CEnsembl
rs1588343176375Y>FEnsembl
COSV53695209
RCV001754295
rs1832174592
376A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV99706566376A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1588343200377H>PEnsembl
COSV53710576
RCV000817191
RCV001766723
RCV002271048
RCV002271049
rs1588343193
377H>Y
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
COSV105045169
rs1832175260
378P>Lcosmic curated
TOPMed
gnomAD
RCV001920877
rs2131474528
378P>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
VAR_069311
CA343804
CM129819
COSV53704786
RCV000032799
RCV000412976
RCV000553512
RCV000787272
RCV001375627
RCV003398586
RCV004576914
rs397515407
379R>Q
ENFL5 (UniProt)
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Epilepsy syndrome (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA)UniProt
ClinGen
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV53698283
RCV001036680
RCV004030997
rs779209462
379R>W
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs753444830383Y>HExAC
TOPMed
gnomAD
RCV001907722
rs2131477259
384Y>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5326828
COSV53698825
RCV000498868
RCV002524097
rs368174673
385V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
cosmic curated
ClinVar
ESP
ExAC
dbSNP
gnomAD
rs1398306778386V>ITOPMed
gnomAD
rs1327895631387I>LgnomAD
COSV99705468
COSV99707060
388L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53711598
rs1280857652
389C>*Variant of uncertain significance (Ensembl)cosmic curated
gnomAD
COSV99704659390P>Hcosmic curated
CA16618794
RCV000484142
RCV003766684
rs1064794752
390P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV000820357
RCV000988290
rs1588344733
390P>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53708640
RCV002020428
rs954342612
391T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs954342612391T>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV53710383
rs751890981
392E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
gnomAD
COSV53707355392E>Kcosmic curated
RCV001882104
rs2131477505
393M>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001065852
RCV002267072
RCV002271179
RCV002271180
rs988871689
393M>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
RCV001933271
rs2131477515
394D>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53697671396Q>Lcosmic curated
COSV53705072397V>Mcosmic curated
CA5326834
COSV53696772
RCV000531501
RCV003441937
rs781342838
398R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs781342838398R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA5326835
COSV53709537
RCV000462226
RCV001280778
RCV002270512
RCV002270513
rs745965148
398R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs745965148398R>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
CA10605353
RCV000323077
rs886043301
399R>KVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001587113
RCV002579463
rs1440098446
399R>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53700551399R>Tcosmic curated
COSV53711957404P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1832217800407S>CTOPMed
COSV53705673408Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108014421409R>Gcosmic curated
VAR_069312
rs397515402
409R>Q
DEE14; gain-of-function mutation (UniProt)
Pathogenic (Ensembl, UniProt)UniProt
Ensembl
dbSNP
COSV53697252
RCV001988131
RCV003134290
rs373755663
409R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1475180895411I>NgnomAD
COSV99705491413L>Icosmic curated
rs1564363269414Q>*Ensembl
RCV001764803
rs1832220041
417A>PLikely benign (Ensembl)ClinVar
Ensembl
dbSNP
COSV105045356417A>Scosmic curated
RCV001034312
rs1832220041
417A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA16042762
RCV000413029
RCV001865289
rs1057518066
418L>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV002022823
rs1057518066
418L>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl)ClinVar
Ensembl
dbSNP
rs989745334418L>PEnsembl
rs968600438419K>RTOPMed
rs368477306422D>ELikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
CA658797372
RCV000650665
RCV001551495
RCV002270930
RCV002270931
rs1554773537
424M>L
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV53701637
RCV000981675
RCV002549569
RCV002550565
RCV003962950
rs201908490
424M>L
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001954907
rs763557773
424M>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53694931
rs764562570
425R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs764562570425R>GVariant of uncertain significance (Ensembl)ExAC
gnomAD
TCGA novel
rs1832222641
425R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
gnomAD
rs2131478100427K>M1000Genomes
RCV002004019
RCV002386892
rs144824627
427K>Q
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53708773428M>Icosmic curated
rs1383981222430N>KLikely benign (Ensembl)gnomAD
RCV001221069
RCV002275313
rs1336529060
430N>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV53705285432E>Dcosmic curated
COSV99705181432E>Gcosmic curated
COSV53706939433A>Dcosmic curated
rs566700584441N>KLikely benign (Ensembl)1000Genomes
TOPMed
gnomAD
rs1203269440442E>AgnomAD
COSV106394382
rs141311481
442E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
TOPMed
dbSNP
gnomAD
RCV001901466
RCV002555350
rs141311481
442E>Q
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
TOPMed
dbSNP
gnomAD
COSV53698583
COSV53701081
RCV000705702
RCV002245614
RCV002270981
RCV002270982
rs1564367281
445R>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV53701081445R>Scosmic curated
RCV001893514
rs539139475
446T>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA240369
RCV000174790
RCV000724047
RCV000804237
RCV002317006
RCV003927600
rs539139475
446T>M
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs539139475446T>RBenign (Ensembl)ExAC
TOPMed
gnomAD
RCV001233920
rs1832501333
447A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV105045320448A>Tcosmic curated
CA375505081
RCV000590903
rs1554774322
450H>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs1306690035450H>NgnomAD
RCV001775325
rs1554774322
450H>P
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5326900
RCV000520430
RCV000678817
RCV000707152
RCV002528245
rs537722828
450H>Q
Hydrocephalus (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002539390
rs773888049
451Q>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs747630922452T>AExAC
gnomAD
COSV53708230452T>Icosmic curated
COSV104556845453I>Ncosmic curated
COSV99705536454L>Qcosmic curated
CA10588471
COSV105045141
RCV000255800
RCV000805872
RCV001808720
rs866242631
455R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
VAR_069313
rs397515404
455R>H
DEE14 (UniProt)
Pathogenic (Ensembl, UniProt)UniProt
Ensembl
dbSNP
CA10603169
RCV000371693
RCV003137877
rs866242631
455R>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs144956052456A>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV53711017
RCV001050226
rs144956052
456A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10588472
RCV000254881
rs886039397
457W>RPathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001868375
RCV002318296
rs1564367605
458A>T
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53695874
rs766714200
459V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1260538922462F>VgnomAD
CA5326908
RCV000534699
rs577633745
463A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
ClinVar
1000Genomes
dbSNP
gnomAD
rs2131497851463A>VEnsembl
COSV99705370464P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs759881953464P>TExAC
gnomAD
rs1832516731465N>DTOPMed
rs1424563729465N>STOPMed
gnomAD
COSV53706952466C>Rcosmic curated
COSV53706252466C>Ycosmic curated
COSV53706970467P>Lcosmic curated
COSV53701856467P>Tcosmic curated
rs1351685037468L>FgnomAD
COSV99705618468L>Icosmic curated
RCV001351707
rs368322298
470V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53709683471Q>Hcosmic curated
COSV53707001471Q>Kcosmic curated
COSV99706671
rs750267867
471Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
COSV53699911473L>Fcosmic curated
rs779779036476E>KExAC
TOPMed
gnomAD
rs779779036476E>QExAC
TOPMed
gnomAD
COSV99706625477N>Kcosmic curated
RCV001822988
RCV003314020
rs2131497737
477N>P
KCNT1-related channelopathy (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV000810474
rs1245114972
478K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
CA375505702
RCV000519276
rs1554774362
480H>RLikely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV104556799480H>Ycosmic curated
COSV53704801
RCV000809850
RCV003424351
rs778483249
481V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1212956742484A>VTOPMed
gnomAD
rs1340829259485D>GTOPMed
gnomAD
COSV105045285485D>Ncosmic curated
rs1277401401486H>NTOPMed
COSV104556890
RCV001756867
RCV003107844
rs905524850
487V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV53709817488V>Lcosmic curated
rs2131504811490E>*Ensembl
rs1388040026491E>KTOPMed
gnomAD
rs1300686209492E>AgnomAD
RCV001300896
rs1832635534
493C>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1832635829496A>STOPMed
COSV105822109
rs1832635829
496A>Tcosmic curated
TOPMed
rs1337838818497M>IgnomAD
VAR_078214
CA10603124
RCV000289855
RCV000417014
RCV001253472
RCV002519055
rs886041691
497M>V
DEE14 (UniProt)
Malignant migrating partial seizures of infancy (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs751063680499A>EExAC
gnomAD
rs751063680499A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
COSV53695815
rs1490595176
505P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
dbSNP
gnomAD
COSV53695815505P>Qcosmic curated
COSV99704805
rs756683505
506A>Vcosmic curated
ExAC
TOPMed
gnomAD
RCV002036575
RCV003134371
rs753874335
507T>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs753874335507T>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1161171006510L>FgnomAD
rs867265348512T>IEnsembl
rs1588358872512T>SEnsembl
rs1324250121515V>LgnomAD
RCV001585262
rs1430492627
517T>MVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1832640275518S>ATOPMed
rs1832640435518S>YVariant of uncertain significance (Ensembl)TOPMed
gnomAD
CA5326971
RCV000429853
RCV000804807
rs774588571
519R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001878810
rs748178951
519R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs774588571519R>SLikely pathogenic (Ensembl)ExAC
TOPMed
gnomAD
RCV001372542
rs1035980360
520G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1282457084521Q>KgnomAD
RCV001294406
RCV002543027
rs1446587740
521Q>R
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV53699345522E>Dcosmic curated
RCV001298485
rs753040489
522E>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
COSV105045331523G>Ecosmic curated
COSV105045372523G>Rcosmic curated
RCV001847378
rs1479237463
524Q>*Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1479237463524Q>KVariant of uncertain significance (Ensembl)gnomAD
CA5327014
COSV53695100
RCV000431250
RCV000650685
RCV001081134
RCV002314148
rs200173000
524Q>R
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002028593
rs894604084
527P>A
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
CA5327015
RCV000559303
RCV000786154
rs770986306
527P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53698995527P>Qcosmic curated
rs894604084527P>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV53697604529Q>*cosmic curated
rs1832665589529Q>PTOPMed
RCV000686005
rs1564370162
530W>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002005391
RCV003126053
rs749316999
532R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
RCV000801341
rs567764094
532R>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000659135
rs567764094
532R>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs749316999532R>SVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1165327237533M>ITOPMed
RCV001949892
rs2131507644
533M>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001000990
rs1588359968
535G>ELikely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1588359968535G>VLikely pathogenic (Ensembl)Ensembl
RCV001319867
rs774249834
536R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5327020
COSV53695913
RCV000415750
RCV002481289
rs764477306
536R>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs764477306536R>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs771881853537C>*ExAC
gnomAD
RCV000702329
rs1564370223
539G>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs760272242539G>VExAC
gnomAD
COSV53702067541E>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001237251
rs765969410
541E>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs760141025543Y>*Likely benign (Ensembl)ExAC
TOPMed
gnomAD
RCV001342352
rs1832668143
543Y>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001035197
rs1190253737
544H>Y
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1832668757545I>MTOPMed
COSV105045235
rs535093138
546R>CVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ExAC
gnomAD
CA5327029
COSV53698868
RCV000815790
RCV001697531
RCV002270760
RCV002270761
RCV003258888
rs769855266
546R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs769855266546R>LLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs769855266546R>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs890228967
COSV53709589
547M>IEnsembl
cosmic curated
rs1832669452547M>LVariant of uncertain significance (Ensembl)TOPMed
RCV001302958
rs1832669667
547M>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001758783
RCV002540422
rs1832669452
547M>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
CA658797373
RCV000650635
rs1554774874
547-548MG>IS
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
CA5327033
RCV000650643
RCV001592817
rs781375160
548G>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs745911061549D>GVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV53700942550S>Ccosmic curated
rs577872126550S>N1000Genomes
ExAC
gnomAD
rs1489231448551K>RTOPMed
COSV53699142552F>Lcosmic curated
rs771931121553F>LExAC
gnomAD
CA5327039
COSV53706654
RCV000596226
RCV001221030
RCV002270718
RCV002270719
rs557219607
554R>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5327040
RCV000650640
RCV000762594
RCV001591126
RCV002402378
rs575162600
554R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV53706654554R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99705440555E>*cosmic curated
COSV53701149555E>Kcosmic curated
CA240952
COSV53709629
RCV000724878
RCV001081967
RCV002312712
RCV003947481
RCV004700536
rs147306623
557E>K
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001532657
RCV002568910
rs1220099278
558G>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs758931831559K>EExAC
gnomAD
rs765782980559K>MExAC
rs1316355831560S>NTOPMed
gnomAD
VAR_078641
rs1185192267
562T>I
DEE14; uncertain significance (UniProt)
Variant of uncertain significance (Ensembl, UniProt)UniProt
dbSNP
gnomAD
RCV001066643
rs1832673206
563Y>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA375506803
RCV000650630
rs1554774904
564A>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV99706183
rs200110001
564A>Tcosmic curated
ExAC
gnomAD
RCV001226099
RCV002270992
RCV002270993
RCV002314397
rs1554774904
564A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002025142
rs1423355423
565A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1832674377566F>LTOPMed
RCV001955243
rs142760483
567H>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001457213
RCV003327471
rs144421853
568A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001944237
rs2131508404
568A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1488722147569H>RgnomAD
rs1832674799569H>YVariant of uncertain significance (Ensembl)TOPMed
RCV001237740
rs1217094996
570K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs756080429571K>RExAC
TOPMed
gnomAD
rs1217452453572Y>HTOPMed
rs1317190673573G>STOPMed
rs1175078708574V>GEnsembl
rs779590747574V>LLikely benign (Ensembl)ExAC
TOPMed
gnomAD
CA5327077
RCV000415957
RCV000606714
RCV001861460
RCV002318370
rs779590747
574V>M
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001206171
rs950983477
576L>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53709549576L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1832706625577I>FgnomAD
COSV104556784578G>Ecosmic curated
rs774652778578G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001351101
rs762247965
580K>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs772378108581R>GExAC
TOPMed
gnomAD
CA5327083
RCV000417036
RCV001034356
rs773621687
581R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs772378108581R>WExAC
TOPMed
gnomAD
rs1281381472582E>*gnomAD
rs1033154988584N>DTOPMed
gnomAD
rs766684511584N>KExAC
TOPMed
gnomAD
rs957136245584N>STOPMed
rs1345537311585K>EgnomAD
rs865911590586S>GEnsembl
rs1246278666586S>NgnomAD
RCV001930645
rs113201678
586S>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
Ensembl
dbSNP
rs148403214587I>VESP
ExAC
TOPMed
gnomAD
rs1588362123590N>TEnsembl
rs547146385591P>L1000Genomes
TOPMed
gnomAD
rs1219746061591P>TVariant of uncertain significance (Ensembl)TOPMed
COSV105045332592G>Rcosmic curated
COSV53709395593P>Lcosmic curated
rs2131510790593P>REnsembl
RCV000805044
rs1330106369
593P>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV99706900594R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001037669
RCV001585675
RCV002318003
rs571757257
594R>Q
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001059750
RCV003132193
rs779639843
594R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99707270595H>Rcosmic curated
CA375508208
RCV000519559
rs1554775058
595H>YVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs778473547596I>FExAC
TOPMed
gnomAD
rs778473547596I>VExAC
TOPMed
gnomAD
rs1228305658598A>VgnomAD
RCV002009336
rs756996609
599A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001305451
RCV002543135
rs1832713510
599A>V
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1832713778600S>AEnsembl
rs921566484602T>AEnsembl
RCV001823603
RCV002542737
rs151006970
602T>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
TOPMed
dbSNP
gnomAD
RCV001347279
rs151006970
602T>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs921566484602T>PEnsembl
rs1832714702604F>LgnomAD
RCV001308728
rs1392866875
604F>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001325740
rs1832714833
605Y>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs772600146605Y>SExAC
TOPMed
gnomAD
rs780921100606I>VVariant of uncertain significance (Ensembl)Ensembl
rs1447648737607N>DgnomAD
rs1390637788607N>KgnomAD
rs139988185607N>SESP
TOPMed
gnomAD
CA231206
COSV106095319
RCV000117360
RCV000601184
RCV001080289
RCV002408619
RCV003925142
rs143355299
608I>V
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1057522978610K>*Pathogenic (Ensembl)Ensembl
CA16606397
RCV000425973
RCV001383750
RCV001731682
rs1057522978
610K>E
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001089750
rs1057522978
610K>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl)ClinVar
Ensembl
dbSNP
rs1405559720611E>*TOPMed
gnomAD
COSV53706746611E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105045368612E>Kcosmic curated
CA201473446
RCV000522716
RCV000555376
RCV002270633
RCV002270634
rs377750450
614S>L
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs1377664941617I>VgnomAD
RCV001770859
rs759819281
618F>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001212322
rs1832717620
619K>E
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1056279495619K>NgnomAD
rs896410305621E>GEnsembl
rs765305702621E>KExAC
gnomAD
rs1832718291622E>AgnomAD
RCV000712122
rs1564371427
622E>KVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs146733790623K>TESP
ExAC
TOPMed
gnomAD
rs532620254624R>GLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
CA5327107
RCV000659136
RCV001088079
RCV002313096
rs141281093
624R>Q
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA241088
COSV53706081
RCV000175356
RCV000529124
RCV002269936
RCV002269937
rs532620254
624R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs755836695626K>RExAC
gnomAD
rs766030025627R>KExAC
TOPMed
gnomAD
CA5327110
RCV000650631
rs753543470
627R>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001973115
rs550751778
628A>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001990231
rs550751778
628A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5327113
COSV53704769
RCV000539561
rs747671066
630S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001305637
rs747671066
630S>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53710440631G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs568916509632Q>K1000Genomes
RCV000704954
rs1022928641
632Q>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001296687
rs536588045
633G>E
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001298522
rs1832720528
633G>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001200199
RCV001859213
RCV002271190
RCV002271191
rs536588045
633G>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001920707
RCV002423030
rs771481255
634L>M
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs777130590634L>PExAC
gnomAD
COSV105843931
COSV53707316
636E>Dcosmic curated
COSV53695173
RCV001297578
RCV001751565
RCV002271209
RCV002271210
rs770039542
636E>K
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA375508719
RCV001413961
rs770039542
636E>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1832721615637G>CVariant of uncertain significance (Ensembl)TOPMed
CA5327121
RCV000513604
RCV001324564
RCV002270607
RCV002270608
rs775458154
637G>D
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002046304
rs1832721615
637G>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
RCV002254129
rs763051647
638P>AVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
COSV53696323
RCV000816574
rs566157365
638P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs763051647638P>TVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs760588512639A>SExAC
gnomAD
rs760588512639A>TExAC
gnomAD
rs766224630639A>VExAC
gnomAD
CA5327127
RCV000498415
RCV002506201
rs753599140
640R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000999282
RCV001858897
RCV002271156
RCV002271157
rs754634573
640R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs1442527675641L>PVariant of uncertain significance (Ensembl)gnomAD
RCV001888531
rs2131511927
642P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001045021
rs757867931
643V>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53704687
RCV001911646
rs757867931
643V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001034458
rs1285595185
644H>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs950812891645S>GEnsembl
RCV001326018
rs1832724038
645S>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA16618796
RCV000484444
RCV001206823
RCV002270578
RCV002270579
rs376231681
647I>F
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
RCV001764952
rs2131512046
647I>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs781725359648A>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs781725359648A>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs781725359648A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs775711545648A>VExAC
gnomAD
rs768834841649S>FExAC
gnomAD
COSV104556868
COSV53701364
650M>Icosmic curated
RCV001062233
rs576552962
650M>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV105045301651G>Ecosmic curated
RCV001996799
rs1364315508
652T>A
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001911757
rs1832838063
652T>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1228569469653V>MgnomAD
rs1054271091654A>TEnsembl
COSV105045319655M>Icosmic curated
CA5327169
RCV000650658
RCV004025812
rs753401695
655M>V
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53707476656D>Ncosmic curated
CA16612804
RCV000468291
RCV000839523
RCV002318570
rs1060505000
658Q>R
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
COSV53707661659G>Ccosmic curated
RCV001468844
rs2131520253
660T>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1782852499660T>STOPMed
RCV000695930
rs1207174167
661E>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1248003688662H>YTOPMed
gnomAD
CA375510036
COSV99706366
RCV000516991
RCV000533463
RCV002270613
RCV002270614
RCV003159660
rs1188425438
663R>Q
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
RCV000693038
RCV001170059
RCV001702711
rs750994724
663R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA375510067
RCV000498885
RCV002524107
rs1411700632
664P>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA5327172
COSV104375563
RCV000650664
RCV001704286
RCV002270342
RCV002270343
RCV002313091
rs377506738
665T>M
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001952035
RCV002271307
RCV002271308
rs756570347
665T>P
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1462835177666Q>*gnomAD
COSV105045237666Q>Kcosmic curated
COSV53701542
rs111647144
667S>RLikely benign (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs1832843807668G>DEnsembl
RCV000999283
RCV001365039
RCV002271158
RCV002271159
rs1156662870
668G>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1017074909669G>AEnsembl
COSV99036649669G>Ccosmic curated
RCV000705393
RCV002270979
RCV002270980
RCV002536397
rs570983410
669G>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
TOPMed
dbSNP
gnomAD
RCV001933299
rs777827895
671G>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001045462
rs1410497158
671G>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs777827895671G>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1832845859672G>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV002038867
RCV003491023
rs769596439
672G>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002050234
rs922840311
673G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1336430001673G>SgnomAD
rs922840311673G>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1832846763674S>GTOPMed
RCV001034006
rs775382017
677A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001305857
rs1832847354
680T>A
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53700849
RCV000685851
RCV001815370
RCV002270963
RCV002270964
rs538197009
680T>M
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
TOPMed
dbSNP
gnomAD
COSV105045182
TCGA novel
681E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA
CA375510458
RCV000650651
rs1554775570
681E>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001347862
rs1588367542
682N>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1588367542682N>TVariant of uncertain significance (Ensembl)Ensembl
rs1471718086683G>DgnomAD
CA5327185
COSV53711032
RCV000601744
RCV000809855
RCV002270806
RCV002270807
rs550447485
683G>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV105045168
rs761540434
684S>LVariant of uncertain significance (Ensembl)cosmic curated
ExAC
gnomAD
rs1588367579684S>PEnsembl
rs1588367627685G>AEnsembl
rs1588367627685G>DEnsembl
rs1351231010685G>STOPMed
gnomAD
rs2131521022686S>IEnsembl
RCV001225893
rs761289867
687R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53695780
rs1357319591
687R>WVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
gnomAD
rs568144711688R>GVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1407599692688R>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV53709850
RCV001313685
rs1407599692
688R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
CA5327191
RCV000469815
rs568144711
688R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs892635002689P>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1351488560689P>LTOPMed
gnomAD
RCV001934388
RCV002466718
rs892635002
689P>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1225787764690S>IgnomAD
RCV001341583
rs1277141686
692A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53696431
RCV001931478
rs1312096992
692A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
dbSNP
gnomAD
COSV53703931
RCV001051297
RCV001799725
rs945869943
694V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs866677249696E>KEnsembl
rs752522838697L>MLikely benign (Ensembl)gnomAD
rs752522838697L>VLikely benign (Ensembl)gnomAD
COSV53696264
rs1832853094
698A>Gcosmic curated
TOPMed
gnomAD
COSV53701030699D>Ecosmic curated
RCV001443452
rs777958749
699D>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99706016699D>Ycosmic curated
rs865775405700S>REnsembl
rs1423036413701S>LgnomAD
rs1173781867702A>SgnomAD
COSV99704749702A>Vcosmic curated
COSV108014637703L>Qcosmic curated
rs1832854534705P>LTOPMed
gnomAD
rs1307057150705P>STOPMed
gnomAD
COSV53697427706C>Rcosmic curated
RCV000658230
RCV001065733
rs756112023
706C>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs368450848706C>WLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV53703320707D>Ecosmic curated
rs1367605908707D>HVariant of uncertain significance (Ensembl)gnomAD
RCV001303412
RCV002271004
RCV002271005
RCV002318128
rs1367605908
707D>N
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1832855607710S>NTOPMed
COSV53695084
RCV000706640
RCV000762595
RCV002270984
RCV002270985
rs752598622
711D>N
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs752598622711D>YVariant of uncertain significance (Ensembl)TOPMed
gnomAD
CA375511050
RCV000650656
RCV003148817
rs1437258889
712Q>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
COSV53696082
rs539503566
712Q>RVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
RCV001339347
rs774281111
713S>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs774281111713S>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001326884
RCV003479313
rs772800657
714E>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001984756
rs2131521801
714E>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs771824661714E>KVariant of uncertain significance (Ensembl)ExAC
RCV001034726
RCV002271164
RCV002271165
rs1360863995
715D>G
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1244750947715D>NgnomAD
rs895247544716E>KTOPMed
gnomAD
rs760064288717V>MVariant of uncertain significance (Ensembl)ExAC
gnomAD
CA153307
COSV107221927
RCV000117362
RCV000233192
RCV002269828
RCV002269829
RCV002312159
RCV004717972
rs61744696
718T>M
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1191000932718T>SEnsembl
COSV53706603
RCV001309358
rs760032575
719P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001945780
rs1163455129
720S>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
CA5327211
RCV000546777
RCV000616774
RCV002270646
RCV002270647
RCV002311873
RCV003915607
rs148162797
721D>E
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV104556844721D>Ncosmic curated
RCV002037443
rs756359375
722D>A
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA201474792
RCV000557177
rs756359375
722D>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5327213
RCV000650633
rs375403065
722D>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53706134723E>*cosmic curated
RCV002318353
rs754932579
723E>D
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53708398
RCV001927845
RCV002555381
rs749302270
723E>K
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1226834674724G>ETOPMed
gnomAD
rs1341803750724G>RgnomAD
rs1226834674724G>VTOPMed
gnomAD
RCV001215420
rs778897238
725L>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs778897238725L>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA5327219
RCV000472325
RCV001721276
RCV002270346
RCV002270347
RCV002313094
RCV003942402
rs559344618
727V>M
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs772673008728V>AExAC
CA375512093
RCV000518961
RCV001497170
rs1333549995
729E>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001974658
rs2131534801
731V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV99704845
rs780703635
732K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV53702268
rs745342758
734Y>Ccosmic curated
ExAC
gnomAD
rs745342758734Y>SExAC
gnomAD
COSV53703715735P>Ncosmic curated
rs1487574287736P>STOPMed
gnomAD
COSV53694983737N>Kcosmic curated
rs770294076737N>SExAC
gnomAD
RCV000808463
RCV003132066
rs775923151
738S>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs1321208182739P>ATOPMed
rs1352728827739P>RgnomAD
COSV53695365739P>Scosmic curated
COSV99705260740Y>Ccosmic curated
COSV99706955740Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA16618797
RCV000485871
rs1064795013
741I>FLikely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
VAR_069314
CA130395
RCV000032796
RCV000413294
rs370521183
741I>M
DEE14 (UniProt)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5327249
COSV107221957
RCV000523851
rs761987610
742G>SVariant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs202083898743S>RExAC
gnomAD
rs1588375864744S>AEnsembl
COSV53710592
rs750558862
744S>Fcosmic curated
ExAC
gnomAD
RCV001206044
rs1833087099
745P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1293656335745P>STOPMed
COSV53702349
rs1588375912
746T>Pcosmic curated
Ensembl
rs1366096381747L>PgnomAD
rs752738271749H>PExAC
gnomAD
rs752738271749H>RExAC
gnomAD
COSV99707141749H>Ycosmic curated
rs758350255750L>HExAC
gnomAD
rs758350255750L>PExAC
gnomAD
rs1172121295750L>VgnomAD
rs1833089344752P>LEnsembl
rs1833089199752P>SEnsembl
rs777479133755A>DLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs1588375985755A>PEnsembl
CA5327257
RCV000465729
RCV002311773
rs777479133
755A>V
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001262969
rs751320619
756P>A
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
COSV104556860756P>Fcosmic curated
rs1588376012757F>SEnsembl
rs1833088879759C>LTOPMed
rs1833091193759C>YTOPMed
COSV53697768
RCV001929092
rs780759196
761R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53697089
COSV99706367
761R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1833239934765G>SEnsembl
rs1360670404768H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV107221956770S>Tcosmic curated
COSV99705268772E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001532659
RCV003771651
rs1466772062
774A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV001062220
rs1833240649
774A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV99706589775K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104375522776A>Tcosmic curated
VAR_069315
CA343802
RCV000032798
RCV000813544
rs397515406
777Y>H
ENFL5 (UniProt)
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV53702751777Y>Ncosmic curated
RCV001303190
rs1233102018
778G>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1393309772780K>NLikely benign (Ensembl)gnomAD
RCV002007740
rs2131543567
785I>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1207405619785I>VTOPMed
gnomAD
COSV53702854
rs376955682
786V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
TOPMed
dbSNP
gnomAD
COSV53699665
rs866480184
787S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1474998881788A>GgnomAD
COSV53707669788A>Scosmic curated
rs1474998881788A>VgnomAD
COSV53706008789E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001055682
rs753288865
790T>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
COSV53703507791A>Dcosmic curated
COSV53703507
COSV99705179
791A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53702932
RCV001756837
RCV002540382
RCV004040193
rs748756591
792G>S
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs758942308793N>KLikely benign (Ensembl)ExAC
TOPMed
gnomAD
RCV000696824
rs1564380461
793N>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1353251151794G>RgnomAD
rs1276377762795L>RTOPMed
gnomAD
RCV001930732
rs2131543767
797N>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001036688
rs1833245627
798F>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001350862
RCV002447434
rs1306134073
799I>V
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001339592
rs771284979
800V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1306973135801P>LLikely pathogenic (Ensembl)TOPMed
gnomAD
RCV001204562
rs1833247008
803R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001253068
rs746067661
803R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Likely benign (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs769984758804A>SExAC
TOPMed
gnomAD
RCV001200200
rs1833247433
804A>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs775405263807R>TExAC
gnomAD
COSV53701968
COSV53708587
808S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53701968808S>Ycosmic curated
COSV53710822
RCV001974878
RCV002271310
RCV002271311
RCV004584453
rs370800291
809R>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001751903
RCV002539913
rs747191095
809R>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs747191095809R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV99705713809R>Scosmic curated
RCV001769474
rs2131543999
810K>EVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV99705285810K>Ncosmic curated
rs1268306218812L>MgnomAD
rs1268306218812L>VgnomAD
rs773018660813N>KExAC
gnomAD
rs1173454349813N>STOPMed
gnomAD
rs1472476683814P>STOPMed
RCV001366083
rs1476079719
815I>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV104556744816V>Ecosmic curated
COSV53705835
RCV000689382
rs753584318
816V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53706691817L>Mcosmic curated
rs1160732928820D>YgnomAD
COSV53696578821N>Kcosmic curated
COSV99706937822K>Tcosmic curated
rs1358334317824D>ETOPMed
gnomAD
CA16612549
RCV000471699
rs376758763
824D>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53713445
RCV001034062
RCV001574615
RCV004030925
rs376758763
824D>N
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001823633
rs1833337197
825H>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1833337197825H>RVariant of uncertain significance (Ensembl)Ensembl
rs1206329448825H>YTOPMed
gnomAD
rs11791754828L>VEnsembl
CA201902
RCV000176324
RCV000427452
RCV000988291
RCV001084423
RCV002269830
RCV002312161
rs149804567
829E>G
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1254342881832C>RgnomAD
RCV001047785
rs1474100198
833C>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1419725743835P>LVariant of uncertain significance (Ensembl)gnomAD
COSV107221897835P>Scosmic curated
rs1833339289836M>IEnsembl
rs762496807836M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1247082735839Y>HTOPMed
gnomAD
rs578161648843S>A1000Genomes
gnomAD
RCV000702248
rs1564381972
843S>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1833340545845D>NEnsembl
rs757223440848D>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001220958
rs757223440
848D>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001946474
rs1424894748
848D>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
COSV104556891848D>Ycosmic curated
COSV53712004849S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99705825849S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV000728590
rs1564382343
850L>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1415210141851L>PgnomAD
rs769546006853C>YVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV106394589854G>Ccosmic curated
rs775397386854G>SExAC
TOPMed
gnomAD
rs768378336855I>VVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1833361661856I>NEnsembl
rs774033346858A>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV104556813
RCV001973154
rs774033346
858A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99707070859D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53700662859D>Ncosmic curated
COSV99706889860N>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104556896860N>Scosmic curated
RCV000728596
rs1564382426
862V>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1377584703863V>AgnomAD
rs1377584703863V>GgnomAD
rs761236942864V>AExAC
gnomAD
rs1833362993865D>NEnsembl
CA16618798
RCV000480787
RCV001044330
RCV002270572
RCV002270573
rs974652934
866K>E
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
COSV53709490867E>Kcosmic curated
rs1397914215868S>TgnomAD
rs1588385033869T>PEnsembl
rs1833363879870M>LEnsembl
rs755213812871S>IExAC
gnomAD
COSV99706723
RCV001923599
rs752835491
872A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5327387
RCV000650625
RCV001698287
RCV003409605
rs376757326
873E>K
KCNT1-related disorder (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA375514619
COSV53712024
RCV000498738
RCV004023331
rs1554778082
874E>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
COSV53708140875D>Ecosmic curated
rs750369758875D>NExAC
gnomAD
VAR_069316
CA347129
RCV000192060
rs797044544
CA16605455
RCV000425537
877M>I
ENFL5 (UniProt)
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Pathogenic (Ensembl, ClinVar)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001953798
RCV002246622
rs1060503696
877M>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
CA16612550
RCV000460553
rs1060503696
877M>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
rs1060503696877M>TPathogenic (Ensembl)gnomAD
COSV104556718878A>Tcosmic curated
COSV53701585
rs780021080
878A>VVariant of uncertain significance (Ensembl)cosmic curated
ExAC
gnomAD
rs369904278879D>ELikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1564382571879D>YEnsembl
CA5327393
COSV53702134
RCV000467773
rs778647834
880A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs771545870884V>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV53710128
rs372824034
884V>Icosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV53695677885N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53697628
RCV002025792
rs761134824
886V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53704415887Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV000812238
RCV002281580
rs1588385233
887Q>R
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs151272083891R>LBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA354199
RCV000209930
RCV000355238
RCV000712126
RCV001080368
RCV002270025
RCV002315641
RCV003927889
rs151272083
891R>Q
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53707370
RCV001306626
RCV001329808
RCV002271213
rs1249219901
891R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs1833433773893F>CgnomAD
COSV53709224897S>Icosmic curated
RCV001887880
rs2131552837
898I>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53710912900T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53710912
rs1213818774
900T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
COSV53700489
rs866560094
901E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
COSV53697032905P>Hcosmic curated
COSV53697012905P>Tcosmic curated
rs771944935908M>IEnsembl
rs1486195544
RCV001234984
908M>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl)gnomAD
ClinVar
dbSNP
rs898473286908M>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1486195544908M>VVariant of uncertain significance (Ensembl)gnomAD
VAR_069317
CA343800
CM129817
COSV53700743
RCV000032797
RCV001044165
RCV001091224
RCV002247410
RCV004577943
rs397515405
909R>C
ENFL5 (UniProt)
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA)UniProt
ClinGen
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
COSV53695576
rs1320766215
909R>Hcosmic curated
TOPMed
gnomAD
rs1004527664910F>IEnsembl
COSV53712317911M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53696648912Q>Lcosmic curated
COSV53696648
COSV99705085
912Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA10602382
RCV000077799
RCV000650650
rs886044717
913F>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV000680017
rs1564383774
913F>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5327450
COSV53699871
RCV000650639
RCV003133461
rs150395210
914R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001953800
rs150395210
914R>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53698351
RCV000999286
RCV001343760
RCV001730748
rs1023136319
914R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
CM129794
COSV53703025
COSV99706966
RCV002036798
RCV002280205
rs397515403
915A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
VAR_069318
CA130391
CM129794
COSV53703025
COSV99706966
RCV000032794
RCV000494477
RCV000791441
rs397515403
915A>T
DEE14; gain-of-function mutation (UniProt)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA)UniProt
ClinGen
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
RCV001927512
rs1414528567
916K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV53699304917D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA375515682
RCV000499686
RCV001401793
RCV002291651
rs1554778379
918S>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV002274346
rs2131553093
919Y>CLikely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001314618
rs1833441002
919Y>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1833441658921L>VEnsembl
rs1362713626922A>GgnomAD
rs1833441904922A>SgnomAD
COSV53695829922A>Tcosmic curated
rs773401972923L>PExAC
gnomAD
RCV001905886
rs1833442352
923L>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV53702517
RCV001294602
rs1833442719
924S>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
COSV53706094925K>Ecosmic curated
rs1196179092925K>QVariant of uncertain significance (Ensembl)gnomAD
VAR_078215
CA16044324
RCV000416995
rs1057519544
928K>E
DEE14 (UniProt)
Malignant migrating partial seizures of infancy (ClinVar)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs755704046929R>KVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001967741
TCGA novel
rs755704046
929R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
NCI-TCGA
ExAC
dbSNP
gnomAD
CA375517256
COSV99036667
RCV000528016
rs1276883403
931R>*
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
CA375517259
RCV000538183
rs886043455
931R>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs886043455931R>QPathogenic (Ensembl)Ensembl
rs558475462934G>DEnsembl
COSV53702640
rs755420667
936N>Hcosmic curated
ExAC
gnomAD
COSV53707344936N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53714204938A>Dcosmic curated
RCV000703343
RCV001815375
RCV002270976
RCV002270977
rs1277322108
938A>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53701100939F>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs779444423940M>IExAC
CA375517397
RCV000516877
RCV001223475
RCV002270615
RCV002270616
rs1318262895
940M>T
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
COSV99706108941F>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1271139059941F>LgnomAD
rs748486101941F>SExAC
gnomAD
RCV002277705
RCV003774890
rs1178947201
942R>C
Neurodevelopmental disorder (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
CA231208
RCV000117366
RCV000416953
RCV001061890
RCV002256047
RCV002433609
RCV003338416
rs200694691
942R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Focal epilepsy (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs200694691942R>PPathogenic (Ensembl)ExAC
gnomAD
RCV001895573
rs2131571194
944P>A
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV000796588
rs997774104
944P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs997774104944P>RVariant of uncertain significance (Ensembl)gnomAD
VAR_078685
rs1424788778
947A>T
DEE14; variant homologue in rat has increased channel activity upon positive potentials (UniProt)
Pathogenic (Ensembl, UniProt)UniProt
dbSNP
gnomAD
rs1478985208947A>VgnomAD
RCV001219909
rs139397246
948G>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201987364949R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
CA375517503
RCV000650637
RCV002440357
rs1325608473
949R>H
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV002004835
rs1325608473
949R>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001947731
RCV003331232
rs1216283172
950V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1224877837951F>LTOPMed
gnomAD
rs1279003717952S>NVariant of uncertain significance (Ensembl)gnomAD
RCV001372699
rs1279003717
952S>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1259390434953I>VgnomAD
COSV53711658954S>Gcosmic curated
COSV53713388954S>Tcosmic curated
COSV53710017
rs995203432
955M>Lcosmic curated
TOPMed
gnomAD
rs1833831475955M>TTOPMed
gnomAD
rs995203432955M>VTOPMed
gnomAD
rs1833831787956L>*Ensembl
rs750160947956L>VExAC
gnomAD
rs2131571591957D>EEnsembl
rs1291419894958T>AgnomAD
COSV99705147958T>Icosmic curated
rs753241465959L>VExAC
gnomAD
COSV99706071960L>Fcosmic curated
COSV53703253962Q>*cosmic curated
rs755542978962Q>EExAC
gnomAD
rs1454666510962Q>RTOPMed
rs1057523641963S>ALikely pathogenic (Ensembl)Ensembl
rs1475185094963S>FEnsembl
CA16605458
RCV000443900
rs1057523641
963S>PLikely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs1465054757965V>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV000794569
rs1465054757
965V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001221287
rs1833883179
966K>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs2131574362968Y>HEnsembl
COSV53701839968Y>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53702627969M>Kcosmic curated
rs751828857969M>VExAC
gnomAD
RCV001303947
rs1833884066
971T>A
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001923042
rs757503542
972I>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
RCV002034409
rs1032036573
973T>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV53714237
RCV001065005
rs1833885872
974R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
CA5327548
COSV53704991
RCV000526933
rs368252006
974R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
dbSNP
gnomAD
COSV53701171980D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53698254
rs773093784
981T>Icosmic curated
ExAC
gnomAD
CA5327553
RCV000457699
RCV000516376
RCV001091225
RCV002270554
RCV002270555
RCV002313241
rs143780942
982T>A
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5327555
RCV000493477
rs372775166
982T>KVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001947274
rs372775166
982T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001797003
rs143780942
982T>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001863590
RCV003322623
rs763585049
983P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs763585049983P>QVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV53699774
rs1564390954
985S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs1368036970987Y>HTOPMed
gnomAD
RCV001346068
rs1833891089
987Y>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs760012681989C>YVariant of uncertain significance (Ensembl)TOPMed
rs745590718995E>KLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs745590718995E>QLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV53704523
RCV001903243
rs779908455
997D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001331152
RCV003989679
rs779908455
997D>Y
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000728661
RCV001211023
RCV002271017
RCV002271018
rs1450164108
998L>P
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001218182
rs1450164108
998L>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1833911145999W>CgnomAD
rs1360729314999W>RTOPMed
gnomAD
rs757276001000I>TEnsembl
CA5327598
COSV99706709
RCV000514377
RCV001402271
RCV002448555
RCV003962419
rs747605326
1001R>C
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53704630
RCV000662112
RCV000662113
RCV000799783
RCV002315986
RCV003133485
rs373365707
1001R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar, NCI-TCGA)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV537153141001R>Scosmic curated
rs7735733191002T>KExAC
TOPMed
gnomAD
rs7735733191002T>MExAC
TOPMed
gnomAD
rs7735733191002T>RExAC
TOPMed
gnomAD
COSV1045568921004G>Dcosmic curated
COSV104375601
RCV001896954
rs754128567
1004G>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002008713
rs554853844
1005R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53702453
RCV001322915
rs765283220
1005R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV537064201006L>Hcosmic curated
RCV000797867
RCV002537059
rs1588401995
1007F>L
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs7812158951010L>FExAC
TOPMed
gnomAD
rs7503710031012S>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001908354
RCV002324282
rs750371003
1012S>F
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs10335431291012S>PEnsembl
rs15884020301013S>CTOPMed
rs14457221171014S>TTOPMed
COSV997072361015A>Pcosmic curated
CA5327613
RCV000465925
RCV001696803
rs779961735
1015A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53703089
RCV001219577
rs748937639
1016E>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs12427921401018P>TTOPMed
gnomAD
rs13449319631019I>TgnomAD
COSV997049301020G>Dcosmic curated
rs18339159981020G>VTOPMed
rs7476322341021I>FExAC
gnomAD
CA5327619
COSV107221933
RCV000650636
rs763578184
1023R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000816176
rs772472766
1023R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs13612009801024T>IVariant of uncertain significance (Ensembl)gnomAD
RCV001303591
RCV003388607
rs771326200
1025E>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs13312127451025E>GTOPMed
gnomAD
COSV997050911025E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1505011771026S>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1505011771026S>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs12813375691028V>GgnomAD
CA201483797
RCV000502758
RCV001350755
RCV002270593
RCV002270594
rs760000324
1028V>I
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
rs18339181061030S>AVariant of uncertain significance (Ensembl)gnomAD
COSV997068791030S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV1045568141030S>Ycosmic curated
RCV001270711
RCV001362103
RCV001751539
RCV002271202
RCV002322175
rs1313669242
1031T>I
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001295147
rs375749415
1032S>*
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53697281
RCV000795579
RCV001420547
RCV001538360
RCV002325514
rs375749415
1032S>L
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs18339189421033E>ATOPMed
RCV001040500
RCV002225787
RCV002271169
RCV002271170
rs776239808
1034P>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53700009
rs776239808
1034P>RVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
RCV001974602
rs1833952592
1034P>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs13510325821036D>AgnomAD
rs13510325821036D>GgnomAD
CA5327659
COSV53706451
RCV000458637
rs537379253
1036D>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs5373792531036D>YLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
COSV537084601038R>Icosmic curated
rs7577742621039A>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV000689437
rs1564392375
1039A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001374284
rs757774262
1039A>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs11860792981040Q>HTOPMed
gnomAD
rs14894531711040Q>RVariant of uncertain significance (Ensembl)gnomAD
rs7586533911041S>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001933245
rs758653391
1041S>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs18340345891042Q>REnsembl
RCV000811418
rs1588407407
1043I>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs13792804311043I>VgnomAD
RCV001294779
RCV003132377
rs1161728281
1044S>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs11617282811044S>WVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs14659886231046N>DgnomAD
rs13379060121046N>IgnomAD
rs7472486331046N>KLikely benign (Ensembl)ExAC
TOPMed
gnomAD
CA375491472
RCV000521097
RCV001857957
RCV002270619
RCV002270620
rs1554780631
1047V>A
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
rs15547806311047V>GVariant of uncertain significance (Ensembl)gnomAD
COSV53703391
RCV000706954
RCV000837370
rs553389226
1047V>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs18340363391048E>DEnsembl
RCV001930689
rs1834036491
1049D>N
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs7812256391050C>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV000812912
rs781225639
1050C>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV108014581
rs749242512
1050C>YVariant of uncertain significance (Ensembl)cosmic curated
ExAC
gnomAD
COSV536958531053T>Scosmic curated
RCV000693724
rs747837141
1054R>P
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7478371411054R>QLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV53705192
RCV001092459
RCV001211100
RCV002271184
RCV002271185
rs768536067
1054R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs14623048971056V>AgnomAD
RCV001813167
RCV001871696
RCV002271205
RCV002271206
RCV003399054
rs771889785
1056V>M
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs12373126551059P>LTOPMed
RCV001345543
rs1834038347
1059P>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5327754
RCV000428869
RCV000513942
RCV001080086
RCV002270330
RCV002270331
RCV002313088
RCV003959927
rs200250181
1061G>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001234530
RCV004033247
rs1312042895
1062S>P
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV997066281062S>Ycosmic curated
COSV53695227
RCV000803285
RCV001200201
RCV002271042
RCV002271043
RCV002534739
rs776232246
1063R>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
CA16612656
RCV000468783
rs776232246
1063R>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA5327757
RCV000522639
RCV001210465
rs760151844
1063R>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV997059741063R>Lcosmic curated
RCV000768249
rs917893164
1064A>P
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
TOPMed
dbSNP
gnomAD
RCV000868097
rs917893164
1064A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs14320709831064A>VTOPMed
gnomAD
rs11700691261066T>ILikely benign (Ensembl)TOPMed
gnomAD
CA5327760
RCV000427821
RCV000727073
RCV001088566
RCV002318410
rs201156458
1067G>R
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV537081091068G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001034392
rs1834040486
1068G>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs7517777581071Q>*ExAC
gnomAD
COSV997070021071Q>Kcosmic curated
rs21315818861072G>CEnsembl
CA16612553
COSV99704705
RCV000458975
RCV002446848
rs1060503695
1073R>C
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (ClinVar)ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
CA5327765
COSV53709422
RCV000529700
RCV004024236
rs369576806
1073R>H
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs18340415511074H>QTOPMed
CA5327766
RCV000544735
RCV000592097
RCV000727041
RCV002324040
rs373041291
1075T>M
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3730412911075T>RLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001300714
rs1206215512
1076G>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV53701517
RCV000797738
RCV002537053
rs748115007
1077G>S
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs9583148221078G>DVariant of uncertain significance (Ensembl)TOPMed
gnomAD
CA5327771
RCV000434858
RCV000703525
RCV002270476
RCV002270477
RCV003129860
RCV004022504
rs199779214
1078G>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs9583148221078G>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs7466667341079D>NExAC
gnomAD
rs7762853921080P>LExAC
gnomAD
CA202185
COSV105822102
RCV000176945
RCV000418473
RCV001085974
RCV002269835
RCV002269836
RCV002313897
rs200642629
1080P>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2006426291080P>TBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5327776
COSV53698810
RCV000529476
rs769422518
1081A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs18340442971081A>VVariant of uncertain significance (Ensembl)gnomAD
rs13035376201082E>DTOPMed
gnomAD
rs14238436921082E>QgnomAD
RCV001321601
RCV002543829
rs1347095932
1084P>T
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs9966106901085L>MVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV000811877
rs996610690
1085L>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs5424090331087R>GLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs5612556141087R>LBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
CA5327781
RCV000441582
rs561255614
1087R>PBenign (Ensembl)ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5327779
COSV107221906
RCV000395206
RCV000559220
RCV002270197
RCV002270198
RCV002311398
RCV003977722
rs561255614
1087R>Q
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV99706461
RCV001217563
RCV003132282
rs542409033
1087R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV104556879
RCV001933414
rs750627411
1088R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001069815
RCV001534881
RCV002318362
rs756256138
1088R>H
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7562561381088R>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
VAR_078642
CA5327785
RCV000537527
rs758311066
1088R>Q
DEE14; uncertain significance (UniProt)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7506274111088R>SLikely benign (Ensembl)ExAC
TOPMed
gnomAD
RCV001945051
RCV003330102
rs1358295612
1089K>E
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV000809790
RCV003413626
rs1588407944
1090S>N
KCNT1-related disorder (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV537029841091L>Pcosmic curated
rs12944352231092Q>EgnomAD
rs14874908911093W>RgnomAD
RCV000988292
RCV001858689
rs1193627908
1094A>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely pathogenic (Ensembl)ClinVar
TOPMed
dbSNP
gnomAD
rs13023513091094A>PTOPMed
gnomAD
rs13023513091094A>STOPMed
gnomAD
rs11936279081094A>VLikely pathogenic (Ensembl)TOPMed
gnomAD
RCV001863350
rs370085077
1095R>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA205412
RCV000192532
RCV000445186
RCV001085819
RCV002269971
RCV002269972
RCV002321775
RCV003907692
rs370085077
1095R>W
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs9097825971097L>MVariant of uncertain significance (Ensembl)Ensembl
rs11801859401098S>NgnomAD
COSV53696486
rs777460659
1099R>CVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs7774606591099R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV53709204
RCV001591699
RCV001866144
RCV002271272
rs1055618053
1099R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs10556180531099R>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs13672440331100K>EgnomAD
rs7810499691100K>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs7810499691100K>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA5327790
RCV000519574
RCV001049572
RCV002270626
RCV002270627
rs745484103
1101A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs14327326531102P>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs18340498471103K>RTOPMed
COSV997069931104Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001326844
rs775015763
1104Q>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000702614
RCV001542341
RCV002270973
rs1381344367
1105A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs13166829331106G>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001227389
rs1316682933
1106G>D
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs12463013131106G>RTOPMed
gnomAD
rs12463013131106G>STOPMed
gnomAD
rs7634008791107R>GLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs7691355001107R>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV53709010
RCV001569645
RCV001866016
rs769135500
1107R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000810311
RCV001310686
rs763400879
1107R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs15884081571108A>PEnsembl
CA5327795
COSV53706986
RCV000542893
RCV000613455
RCV002270656
RCV002270657
RCV002456229
rs774589071
1108A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7678609301109A>TExAC
TOPMed
gnomAD
CA5327798
COSV99705814
RCV000223967
RCV001080305
RCV002270026
RCV002270027
RCV002317746
RCV003919904
rs143704418
1109A>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001338937
rs1834052820
1110A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs7663949131110A>VExAC
gnomAD
RCV001339950
rs138421850
1111A>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA153316
COSV53712185
RCV000117370
RCV000229018
RCV000439332
RCV001270161
RCV002269839
RCV002312162
rs138421850
1111A>T
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3705721621111A>VLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs18340542491112E>AEnsembl
rs7811110741112E>DLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV108014422
RCV001984584
rs2131582676
1112E>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
rs18340547771113W>CVariant of uncertain significance (Ensembl)TOPMed
COSV107221898
RCV001907737
rs1408375707
1114I>F
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
dbSNP
gnomAD
rs14083757071114I>LVariant of uncertain significance (Ensembl)gnomAD
RCV001230490
rs1332070255
1115S>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs18340557381115S>RTOPMed
rs7557513571117Q>*ExAC
gnomAD
rs7557513571117Q>EExAC
gnomAD
RCV001913020
RCV002291784
rs779430817
1118R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001219178
rs568818508
1118R>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV53701042
rs779430817
1118R>SVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs13741946381120S>GTOPMed
gnomAD
COSV99036652
rs1834057026
1120S>RVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
gnomAD
RCV001368967
rs1237797436
1121L>M
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
TOPMed
dbSNP
gnomAD
RCV002041567
rs774987263
1121L>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs7714976101122Y>*ExAC
gnomAD
rs12630264291122Y>CgnomAD
rs7735202831123R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA5327814
RCV000650638
rs773520283
1123R>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53700126
COSV108014566
rs772478093
1123R>Wcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs7609233081124R>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA375492154
RCV000650654
RCV001169978
rs1182743416
1124R>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001904876
rs760923308
1124R>S
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001212182
RCV003973143
rs766557144
1125S>C
KCNT1-related disorder (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001872287
rs2131582898
1125S>P
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs12323103491126E>KVariant of uncertain significance (Ensembl)TOPMed
rs18340589121126E>VTOPMed
RCV001757265
rs1471022566
1127R>CVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
CA5327817
COSV105045296
RCV000550925
RCV001692185
RCV002270660
RCV002270661
RCV002456230
RCV003935505
rs368339692
1127R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3683396921127R>LBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs14710225661127R>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs7652301011128Q>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001346720
RCV002547456
rs1177972273
1130L>F
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV537094461131S>Fcosmic curated
COSV997067151132E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV000988293
RCV001318880
RCV002271145
rs767450181
1132E>K
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7674501811132E>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs18340606421134V>LEnsembl
rs7501764301135K>EVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs7798109601135K>MLikely benign (Ensembl)ExAC
gnomAD
RCV000797458
rs750176430
1135K>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA375492311
RCV000525520
rs779810960
1135K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001308669
RCV001751590
RCV002271214
RCV002271215
rs1834060931
1135K>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs12832685561136N>SLikely benign (Ensembl)TOPMed
gnomAD
CA375492326
COSV53696101
RCV000650652
rs1283268556
1136N>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs12258325621137R>CVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001310687
rs867696317
1137R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV997055081137R>Scosmic curated
CA375492367
COSV104556884
RCV000490041
rs1085307807
1138M>IVariant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
rs9641982811140H>YTOPMed
gnomAD
RCV000821631
RCV001593017
RCV001759612
RCV002271050
rs1439404936
1144P>L
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs18340624301144P>SEnsembl
rs18340628991145T>NTOPMed
gnomAD
RCV001052422
RCV001281482
RCV002271174
RCV002271175
rs549276113
1146T>A
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
RCV001050320
rs748679465
1146T>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7486794651146T>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001058796
RCV003307889
rs1201438079
1147G>S
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs9828538861148Y>CTOPMed
COSV537113471149E>*cosmic curated
COSV537124361149E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA5327832
COSV53707605
COSV53711347
RCV000550588
RCV001431327
rs747317425
1149E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs18342121631149E>VEnsembl
rs7662219731150D>NExAC
TOPMed
gnomAD
rs7523332551151V>AExAC
TOPMed
gnomAD
COSV537001461151V>Ecosmic curated
COSV53705208
RCV000988294
rs759235951
1151V>I
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs7592359511151V>LLikely benign (Ensembl)ExAC
gnomAD
COSV537009161152A>Gcosmic curated
COSV997064071153N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7521589911155T>AExAC
gnomAD
rs7521589911155T>PExAC
gnomAD
COSV536995291156A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7576630211159V>GExAC
gnomAD
rs13635266541160M>IgnomAD
rs18342140831160M>VTOPMed
RCV000999288
rs1588412829
1162R>GVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
COSV53695146
rs746160320
1162R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV53711416
rs1588412829
1162R>WVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
COSV997065251166G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs12381573651169Q>*gnomAD
COSV997068191169Q>Kcosmic curated
COSV53706738
RCV002008785
rs768746178
1171E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1834554544
COSV53701810
1172M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
NCI-TCGA Cosmic
cosmic curated
RCV001363194
RCV001587374
RCV002271229
RCV002271230
rs1834554393
1172M>V
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV536981011174D>Ecosmic curated
COSV53696986
rs866875880
1174D>NVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
RCV001658788
RCV003771818
rs1450163574
1175H>Y
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs7728063901176Q>*ExAC
gnomAD
rs7612704931176Q>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
RCV001034222
rs761270493
1176Q>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001351972
rs139454881
1177N>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
TOPMed
dbSNP
rs10520597761178T>AVariant of uncertain significance (Ensembl)Ensembl
rs10520597761178T>PVariant of uncertain significance (Ensembl)Ensembl
rs14745083551179L>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001061226
rs1474508355
1179L>V
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1499271481181Y>*Benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV99706839
RCV001313400
rs754383898
1182V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV536964791183L>Vcosmic curated
RCV001034199
RCV001270712
RCV002454258
rs1161862851
1184I>L
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV1060953001185N>Scosmic curated
rs8922577711185N>TEnsembl
COSV536999911186P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs18345581711186P>SgnomAD
RCV001318124
rs544495873
1187P>L
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs5444958731187P>QLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
COSV537031891188P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs21316047491188P>LEnsembl
rs7573125001188P>SExAC
gnomAD
RCV001059727
rs773695396
1189D>E
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl)ClinVar
TOPMed
dbSNP
gnomAD
RCV001977299
RCV003170279
rs142875411
1189D>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1428754111189D>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1428754111189D>YVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs9862659321190T>ATOPMed
gnomAD
CA5327949
RCV001722410
RCV001865484
RCV003258823
rs370090905
1190T>M
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV997055681193E>Gcosmic curated
COSV53710624
RCV001345959
rs1292390745
1193E>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs14457889921194P>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV537015691194P>Hcosmic curated
CA5327951
RCV000594843
RCV001215111
RCV002270721
RCV002270722
RCV002532586
rs147654995
1194P>L
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53713691
RCV001298610
rs1445788992
1194P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs13103560601195S>NTOPMed
RCV001220111
RCV002562497
rs142340167
COSV53696761
1195S>R
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
cosmic curated
RCV002014549
TCGA novel
rs2131604934
1196D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
NCI-TCGA
Ensembl
dbSNP
rs18345612221196D>NTOPMed
rs19582237981197I>LVariant of uncertain significance (Ensembl)TOPMed
CA5327953
RCV000522354
rs777322392
1197I>TVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001312344
RCV002271008
RCV002271009
RCV002318162
rs1171803758
1198V>I
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs18345771261201I>LEnsembl
rs18345772741201I>MTOPMed
CA5327992
COSV99706915
RCV000282131
RCV000464290
RCV002270199
RCV002270200
rs372028322
1202R>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53695506
RCV001883921
RCV002552299
rs780857518
1202R>H
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV537141681202R>Lcosmic curated
COSV99705674
rs372028322
1202R>SVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs8687648611203S>FTOPMed
rs18345782321203S>PVariant of uncertain significance (Ensembl)Ensembl
rs15884232781204D>AEnsembl
RCV001217658
rs140628824
1204D>E
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs7497334621204D>HExAC
TOPMed
gnomAD
rs7497334621204D>NExAC
TOPMed
gnomAD
CA5328001
RCV000528578
rs762025166
1205P>H
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs7620251661205P>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs14592518251206L>RTOPMed
rs7595615581208H>NLikely benign (Ensembl)ExAC
TOPMed
gnomAD
COSV536969541208H>Qcosmic curated
RCV001341471
RCV001550765
rs759561558
1208H>Y
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV53708369
RCV000693155
rs766339368
1209V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000697058
rs1564402008
1210A>T
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs12452240431211S>ITOPMed
gnomAD
rs12452240431211S>NTOPMed
gnomAD
RCV001200202
rs1834581421
1212S>NVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs14036682751212S>RVariant of uncertain significance (Ensembl)gnomAD
CA5328006
RCV000650655
RCV001712294
RCV002270442
RCV002270443
RCV002313127
rs752729337
1213S>C
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV536948931214Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA375494379
RCV000650647
rs1554782444
1214Q>K
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs7629384301214Q>RExAC
gnomAD
COSV53702957
rs1193223032
1215S>Ncosmic curated
TOPMed
CA206835
COSV99705263
RCV000193382
RCV000471444
RCV000656028
RCV001080555
RCV002311297
RCV003917754
rs138282349
1216R>Q
KCNT1-related disorder (ClinVar)
Childhood epilepsy with centrotemporal spikes (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001210010
rs150447764
1216R>W
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001220514
rs1834583130
1218S>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001935431
rs2131606216
1219S>G
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs3763988831219S>IVariant of uncertain significance (Ensembl)ESP
TOPMed
gnomAD
RCV001218560
rs756986311
1219S>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001248725
RCV001773566
rs758465935
1220C>Y
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs12680818211221S>GgnomAD
rs7809610751221S>RExAC
gnomAD
rs868847760
RCV001865066
RCV003482376
1222H>Q
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl)TOPMed
gnomAD
ClinVar
dbSNP
rs12003758951222H>YgnomAD
rs7500104731223K>QExAC
gnomAD
RCV001880830
rs1834585051
1223K>R
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
COSV99705700
COSV99706124
1224L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53700029
RCV001862088
RCV002318299
rs779379200
1225S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5328016
RCV000650646
RCV002458134
RCV003330866
rs769083534
1226S>F
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99705719
rs1408592085
1226S>Pcosmic curated
gnomAD
COSV1060953091227C>Ycosmic curated
rs15884235141228N>SEnsembl
rs15884235141228N>TEnsembl
COSV53707087
rs748571213
1229P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
CA5328017
RCV000650642
RCV001092461
RCV002270928
RCV002270929
RCV003352971
rs779262121
1229P>S
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Likely benign (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs5747767061230E>A1000Genomes
rs5747767061230E>G1000Genomes
CA5328020
RCV000867035
RCV001704627
RCV002270574
RCV002270575
RCV002455927
RCV003962341
rs144679713
1230E>K
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5328021
RCV000514013
RCV001085417
RCV002270253
RCV002270254
RCV002314149
RCV003912620
rs74533482
1231T>A
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Inborn genetic diseases (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs13441222971231T>IgnomAD
RCV000694266
rs771068120
1232R>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5328023
COSV104375594
RCV000699529
RCV001712482
RCV002270621
RCV002270622
rs776538404
1232R>H
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7765384041232R>PBenign (Ensembl)ExAC
TOPMed
gnomAD
COSV537003701233D>Gcosmic curated
CA5328025
RCV000416241
RCV000766050
RCV002270245
RCV002270246
rs146193090
1233D>N
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs11888572641234E>DVariant of uncertain significance (Ensembl)TOPMed
gnomAD
CA5328027
COSV105045327
RCV000431889
RCV001083596
RCV002270255
RCV002270256
RCV003932561
rs138109494
1234E>K
Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar)
KCNT1-related disorder (ClinVar)
Developmental and epileptic encephalopathy, 14 (ClinVar)
Benign (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001756991
rs767191241
1235T>AVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs7671912411235T>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs14423257621235T>RgnomAD
rs13693670331236Q>*gnomAD
rs12579812441236Q>RTOPMed
gnomAD
CA375494568
RCV000650628
RCV003432696
rs1459930316
1238*>C
Developmental and epileptic encephalopathy, 14 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
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