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Parent Node:
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Spasms, Infantile (D013036)
..Starting node
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)

       Child Nodes:



 Sister Nodes: 
..expandConvulsions, Benign Familial Infantile, 2 (C565296)
..expandEpileptic Encephalopathy, Early Infantile, 1 (C567924)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 (OMIM:615476)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
..expandEpileptic Encephalopathy, Early Infantile, 2 (C564064)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 (OMIM:615871)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 (OMIM:615905)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
..expandEpileptic Encephalopathy, Early Infantile, 3 (C562695)  LSDB  L: 00103;
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 (OMIM:616346)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 (OMIM:616366)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 (OMIM:616409)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 (OMIM:616645)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (OMIM:616647)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 (OMIM:300884)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 (OMIM:616981)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 (OMIM:617020)
..expandEpileptic Encephalopathy, Early Infantile, 4 (C567404)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 (OMIM:617065)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 (OMIM:617105)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 (OMIM:617106)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 (OMIM:617113)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 (OMIM:617132)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 (OMIM:617153)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 (OMIM:617162)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 (OMIM:617166)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 (OMIM:617276)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 (OMIM:617281)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 (OMIM:616457)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (OMIM:617339)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 (OMIM:617350)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 (OMIM:617389)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 (OMIM:617391)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandNorrie disease (C537849)
..expandPEHO syndrome (C536317)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4310
Name:EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
Definition:
Alternative IDs:
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/616341 |C10.228.140.490.493.875/616341
Synonyms:EIEE30
Slim Mappings:Nervous system disease
Reference: MedGen: 616341
MeSH: 616341
OMIM: 616341;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001344Absent speechHP:0040284
3 HP:0001522Death in infancyHP:0040284
4 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
5 HP:0200134Epileptic encephalopathy
6 HP:0011968Feeding difficulties
7 HP:0002123Generalized myoclonic seizuresHP:0040284
8 HP:0002069Generalized tonic-clonic seizures
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040284
10 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040284
11 HP:0002521Hypsarrhythmia
12 HP:0002098Respiratory distressHP:0040284
13 HP:0000733StereotypyHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000021.9:g.(?_43413515)_(43428122_?)dup150094SIK1Uncertain significance-1RCV001033295; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483339544848002nana-1-
NC_000021.8:g.(?_44836602)_(44837674_?)dup150094SIK1Benign-1RCV000541267; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483660244837674nana-
NC_000021.8:g.(?_44836602)_(45629566_?)del150094SIK1Pathogenic-1RCV001031043; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483660245629566nana-1-
NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly)150094SIK1Conflicting interpretations of pathogenicityrs756377602RCV000997833|RCV001058555; NMedGen:CN517202|MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483665444836654AC21:g.44836654A>C-
NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys)150094SIK1Uncertain significance-1RCV001209770; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483666944836669CT21:g.44836669C>T-
NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr)150094SIK1Uncertain significancers755238635RCV000689045; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483668144836681CA21:g.44836681C>A-
NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser)150094SIK1Uncertain significance-1RCV001061491; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483670244836702GA21:g.44836702G>A-
NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser)150094SIK1Uncertain significancers1601506211RCV000805726; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483671744836718CCATNC_000021.8:g.44836717_44836718delinsAT-
NM_173354.5(SIK1):c.2243G>A (p.Arg748His)150094SIK1Conflicting interpretations of pathogenicityrs375516507RCV000560539|RCV000716252; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483673144836731CT21:g.44836731C>TClinGen:CA321324276
NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys)150094SIK1Uncertain significancers768404256RCV000548146; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483673244836732GA21:g.44836732G>AClinGen:CA321324287
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr)150094SIK1Benignrs200534160RCV000913745; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483674744836747CT21:g.44836747C>T-
NM_173354.5(SIK1):c.2226C>T (p.Pro742=)150094SIK1Likely benignrs199872172RCV000887493; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483674844836748GA21:g.44836748G>A-
NM_173354.5(SIK1):c.2226C>G (p.Pro742=)150094SIK1Likely benignrs199872172RCV000920335; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483674844836748GC21:g.44836748G>C-
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg)150094SIK1Benign-1RCV001034029; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483675244836752AC21:g.44836752A>C-
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr)150094SIK1Uncertain significance-1RCV001055769; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483675644836756CT21:g.44836756C>T-
NM_173354.5(SIK1):c.2208C>T (p.Thr736=)150094SIK1Likely benignrs377024605RCV000653202; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483676644836766GA21:g.44836766G>AClinGen:CA321324333
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp)150094SIK1Benign/Likely benignrs201955244RCV000535373|RCV000718645; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483677044836770CT21:g.44836770C>TClinGen:CA321324346
NM_173354.5(SIK1):c.2202T>C (p.Ile734=)150094SIK1Likely benignrs368699653RCV000653197; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483677244836772AG21:g.44836772A>GClinGen:CA321324348C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2175G>A (p.Ala725=)150094SIK1Likely benignrs372469113RCV000905596; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483679944836799CT21:g.44836799C>T-
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val)150094SIK1Benignrs35596465RCV000559345|RCV000716363; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483680044836800GA21:g.44836800G>AClinGen:CA321324365C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2172G>A (p.Ala724=)150094SIK1Uncertain significance-1RCV001226535; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483680244836802CT21:g.44836802C>T-
NM_173354.5(SIK1):c.2161G>T (p.Val721Leu)150094SIK1Uncertain significance-1RCV001051514; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483681344836813CA21:g.44836813C>A-
NM_173354.5(SIK1):c.2160G>T (p.Pro720=)150094SIK1Benign/Likely benignrs371001336RCV000653207|RCV000720051; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483681444836814CA21:g.44836814C>AClinGen:CA321324388C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)150094SIK1Likely benignrs547049916RCV000960770; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483681544836815GA21:g.44836815G>A-
NM_173354.5(SIK1):c.2153C>T (p.Ala718Val)150094SIK1Uncertain significance-1RCV001218048; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483682144836821GA21:g.44836821G>A-
NM_173354.5(SIK1):c.2142G>A (p.Leu714=)150094SIK1Benign/Likely benignrs759724871RCV000547209|RCV000717702; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483683244836832CT21:g.44836832C>TClinGen:CA321324422
NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg)150094SIK1Uncertain significancers1601506378RCV000803098; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483684244836842GC21:g.44836842G>C-
NM_173354.5(SIK1):c.2121G>A (p.Pro707=)150094SIK1Likely benignrs374313941RCV000530212|RCV000720172; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483685344836853CT21:g.44836853C>TClinGen:CA321324447
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu)150094SIK1Uncertain significance-1RCV001220600; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483685444836854GA21:g.44836854G>A-
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met)150094SIK1Benignrs1308366748RCV000693990; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483686644836866GA21:g.44836866G>A-
NM_173354.5(SIK1):c.2093C>T (p.Pro698Leu)150094SIK1Likely benignrs757755073RCV000558419; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483688144836881GA21:g.44836881G>AClinGen:CA321324477C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2088G>A (p.Pro696=)150094SIK1Likely benignrs376915289RCV000882554|RCV001200273; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|MedGen:CN517202214483688644836886CT21:g.44836886C>T-
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu)150094SIK1Benignrs56386767RCV000424372|RCV000546024|RCV000716537; NMedGen:CN517202|MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phe214483688744836887GA21:g.44836887G>AClinGen:CA16603199C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2074C>G (p.Pro692Ala)150094SIK1Uncertain significancers1569013982RCV000689060; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483690044836900GC21:g.44836900G>C-
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp)150094SIK1Benignrs200810453RCV000529277|RCV000717395; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483690244836902CT21:g.44836902C>TClinGen:CA321324493
NM_173354.5(SIK1):c.2052T>A (p.Phe684Leu)150094SIK1Uncertain significance-1RCV001219898; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483692244836922AT21:g.44836922A>T-
NM_173354.5(SIK1):c.2049G>A (p.Pro683=)150094SIK1Benign/Likely benignrs373872652RCV000540526|RCV000717041; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483692544836925CT21:g.44836925C>TClinGen:CA321324508C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val)150094SIK1Benign-1RCV001034204; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483692944836929GA21:g.44836929G>A-
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)150094SIK1Likely benign-1RCV001033991; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483694044836940CA21:g.44836940C>A-
NM_173354.5(SIK1):c.2004_2016del (p.Ala670fs)150094SIK1Uncertain significance-1RCV001209832; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483695844836970AGCCGGGTGCAGCGA21:g.44836958_44836970del-
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser)150094SIK1Benignrs751934560RCV000553286; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483696044836960CT21:g.44836960C>TClinGen:CA321324536C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu)150094SIK1Uncertain significance-1RCV001202826; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483696244836962GA21:g.44836962G>A-
NM_173354.5(SIK1):c.2000C>T (p.Pro667Leu)150094SIK1Uncertain significance-1RCV001042815; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483697444836974GA21:g.44836974G>A-
NM_173354.5(SIK1):c.1992G>A (p.Gln664=)150094SIK1Likely benignrs1268323259RCV000653199; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483698244836982CT21:g.44836982C>TClinGen:CA658799457C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1989A>C (p.Leu663Phe)150094SIK1Uncertain significance-1RCV001048558; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483698544836985TG21:g.44836985T>G-
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)150094SIK1Conflicting interpretations of pathogenicityrs34614061RCV000653192; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483746544837465CT21:g.44837465C>TClinGen:CA321324786C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1932C>G (p.Ser644Arg)150094SIK1Uncertain significance-1RCV001203202; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483746744837467GC21:g.44837467G>C-
NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser)150094SIK1Uncertain significance-1RCV001221397; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483747244837472CT21:g.44837472C>T-
NM_173354.5(SIK1):c.1926C>T (p.Ala642=)150094SIK1Likely benignrs761311570RCV000532637; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483747344837473GA21:g.44837473G>AClinGen:CA321324798
NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser)150094SIK1Uncertain significance-1RCV001203465; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483747844837478CA21:g.44837478C>A-
NM_173354.5(SIK1):c.1918G>A (p.Gly640Ser)150094SIK1Uncertain significancers763499196RCV000822965; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483748144837481CT21:g.44837481C>T-
NM_173354.5(SIK1):c.1917C>T (p.Gly639=)150094SIK1Likely benignrs751294210RCV000653203; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483748244837482GA21:g.44837482G>AClinGen:CA321324814C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser)150094SIK1Uncertain significancers780476959RCV000816229; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483748444837484CT21:g.44837484C>T-
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser)150094SIK1Pathogenicrs786205163RCV000170348; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483749344837493CT21:g.44837493C>TClinGen:CA199555,UniProtKB:P57059#VAR_073703,OMIM:605705.0005
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)150094SIK1Pathogenicrs786205162RCV000170347; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483750244837502GA21:g.44837502G>AClinGen:CA199553,OMIM:605705.0004C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1888G>A (p.Ala630Thr)150094SIK1Uncertain significance-1RCV001049016; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483751144837511CT21:g.44837511C>T-
NM_173354.5(SIK1):c.1885C>T (p.His629Tyr)150094SIK1Uncertain significance-1RCV001247179; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483751444837514GA21:g.44837514G>A-
NM_173354.5(SIK1):c.1875G>T (p.Leu625=)150094SIK1Likely benignrs376554812RCV000653205; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483752444837524CA21:g.44837524C>AClinGen:CA321324892C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1870G>A (p.Gly624Ser)150094SIK1Uncertain significancers544350928RCV000797255; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483752944837529CT21:g.44837529C>T-
NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln)150094SIK1Uncertain significance-1RCV001218516; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483754344837543CT21:g.44837543C>T-
NM_173354.5(SIK1):c.1849G>A (p.Ala617Thr)150094SIK1Uncertain significance-1RCV001207379; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483755044837550CT21:g.44837550C>T-
NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs)150094SIK1Uncertain significancers1474186338RCV000706153; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483755544837556GGA21:g.44837555_44837556insA-
NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr)150094SIK1Uncertain significancers777106028RCV000700529; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483755644837556CT21:g.44837556C>T-
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter)150094SIK1Pathogenicrs786205161RCV000170346; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483755944837559GA21:g.44837559G>AClinGen:CA199551,OMIM:605705.0003
NM_173354.5(SIK1):c.1834G>A (p.Val612Met)150094SIK1Uncertain significance-1RCV001245082; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483756544837565CT21:g.44837565C>T-
NM_173354.5(SIK1):c.1833G>T (p.Gln611His)150094SIK1Uncertain significance-1RCV001204891; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483756644837566CA21:g.44837566C>A-
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg)150094SIK1Uncertain significance-1RCV001043950; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483756744837567TC21:g.44837567T>C-
NM_173354.5(SIK1):c.1830C>T (p.Arg610=)150094SIK1Likely benignrs1043309128RCV000982238; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483756944837569GA21:g.44837569G>A-
NM_173354.5(SIK1):c.1782G>A (p.Thr594=)150094SIK1Benignrs548640382RCV000552354; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483761744837617CT21:g.44837617C>TClinGen:CA321324985
NM_173354.5(SIK1):c.1781C>T (p.Thr594Met)150094SIK1Uncertain significance-1RCV001248297; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483761844837618GA21:g.44837618G>A-
NM_173354.5(SIK1):c.1745-2A>G150094SIK1Uncertain significancers1569014372RCV000691881; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483765644837656TC21:g.44837656T>C-
NM_173354.5(SIK1):c.1744+10G>A150094SIK1Benignrs376512810RCV000653193|RCV001086018; NMedGen:CN517202|MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483813044838130CT21:g.44838130C>TClinGen:CA321325264C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1744+9C>T150094SIK1Likely benignrs764319720RCV000951193; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483813144838131GA21:g.44838131G>A-
NM_173354.5(SIK1):c.1744+7C>G150094SIK1Likely benignrs1348743249RCV000897072; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483813344838133GC21:g.44838133G>C-
NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile)150094SIK1Likely benign-1RCV001034041; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483814544838145GA21:g.44838145G>A-
NM_173354.5(SIK1):c.1725G>A (p.Ser575=)150094SIK1Likely benignrs547895705RCV000950334; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483815944838159CT21:g.44838159C>T-
NM_173354.5(SIK1):c.1641C>T (p.Ser547=)150094SIK1Likely benignrs767618062RCV000539603; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483824344838243GA21:g.44838243G>AClinGen:CA321325373C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1628T>C (p.Leu543Pro)150094SIK1Likely benignrs144694596RCV000817324; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483825644838256AG21:g.44838256A>G-
NM_173354.5(SIK1):c.1623C>T (p.Pro541=)150094SIK1Likely benignrs377361018RCV000883421; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483826144838261GA21:g.44838261G>A-
NM_173354.5(SIK1):c.1620G>A (p.Ser540=)150094SIK1Likely benignrs746537219RCV000930480; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483826444838264CT21:g.44838264C>T-
NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu)150094SIK1Uncertain significance-1RCV001219908; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483826544838265GA21:g.44838265G>A-
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu)150094SIK1Uncertain significancers373576665RCV000551430; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483828044838280GA21:g.44838280G>AClinGen:CA321325411C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser)150094SIK1Benign-1RCV001034067; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483829044838290CA21:g.44838290C>A-
NM_173354.5(SIK1):c.1594G>A (p.Ala532Thr)150094SIK1Uncertain significance-1RCV001061501; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483829044838290CT21:g.44838290C>T-
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu)150094SIK1Uncertain significancers765573579RCV000653187; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483831344838313GA21:g.44838313G>AClinGen:CA321325444
NM_173354.5(SIK1):c.1568C>T (p.Thr523Ile)150094SIK1Uncertain significancers1389573601RCV000816343; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483831644838316GA21:g.44838316G>A-
NM_173354.5(SIK1):c.1560C>T (p.Leu520=)150094SIK1Benignrs146485356RCV000889232; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483832444838324GA21:g.44838324G>A-
NM_173354.5(SIK1):c.1554G>T (p.Ala518=)150094SIK1Benignrs34487963RCV000538949|RCV000715880; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483833044838330CA21:g.44838330C>AClinGen:CA321325455C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val)150094SIK1Likely benignrs142171557RCV000653189|RCV000717289; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483833144838331GA21:g.44838331G>AClinGen:CA321325457
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro)150094SIK1Conflicting interpretations of pathogenicity-1RCV001039763|RCV001171964; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|MedGen:CN517202214483833244838332CG21:g.44838332C>G-
NM_173354.5(SIK1):c.1552G>A (p.Ala518Thr)150094SIK1Uncertain significance-1RCV001054775; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483833244838332CT21:g.44838332C>T-
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)150094SIK1Likely benignrs200402559RCV000691190; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483834644838346GA21:g.44838346G>A-C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1538C>G (p.Ala513Gly)150094SIK1Uncertain significance-1RCV001207846; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483834644838346GC21:g.44838346G>C-
NM_173354.5(SIK1):c.1538C>A (p.Ala513Glu)150094SIK1Uncertain significance-1RCV001232312; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483834644838346GT21:g.44838346G>T-
NM_173354.5(SIK1):c.1535C>T (p.Ser512Phe)150094SIK1Uncertain significance-1RCV001237453; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483834944838349GA21:g.44838349G>A-
NM_173354.5(SIK1):c.1530C>G (p.Thr510=)150094SIK1Likely benignrs759750280RCV000653209; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483835444838354GC21:g.44838354G>CClinGen:CA658799458C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1515dup (p.Asp506Ter)150094SIK1Uncertain significance-1RCV001234176; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483836844838369CCA21:g.44838368_44838369insA-
NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu)150094SIK1Uncertain significance-1RCV001227940; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483837944838379CT21:g.44838379C>T-
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser)150094SIK1Benignrs35519605RCV000526239; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483839544838395CA21:g.44838395C>AClinGen:CA321325508
NM_173354.5(SIK1):c.1487C>T (p.Thr496Met)150094SIK1Uncertain significance-1RCV001049620; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483839744838397GA21:g.44838397G>A-
NM_173354.5(SIK1):c.1482C>T (p.Ser494=)150094SIK1Likely benignrs1555891046RCV000550361; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483840244838402GA21:g.44838402G>AClinGen:CA658658892C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1475C>T (p.Ser492Phe)150094SIK1Likely benign-1RCV001034434; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483840944838409GA21:g.44838409G>A-
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu)150094SIK1Likely benignrs140222760RCV000538008|RCV000720381; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483841344838413CG21:g.44838413C>GClinGen:CA321325530
NM_173354.5(SIK1):c.1470C>T (p.Val490=)150094SIK1Benign/Likely benignrs144693254RCV000557287|RCV000715502; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483841444838414GA21:g.44838414G>AClinGen:CA321325533C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)150094SIK1Likely benign-1RCV001034368; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483842144838421CT21:g.44838421C>T-
NM_173354.5(SIK1):c.1463-5C>T150094SIK1Likely benignrs375664122RCV000536953|RCV000720707; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483842644838426GA21:g.44838426G>AClinGen:CA321325562
NM_173354.5(SIK1):c.1463-5C>G150094SIK1Likely benignrs375664122RCV000653210; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483842644838426GC21:g.44838426G>CClinGen:CA321325564
NM_173354.5(SIK1):c.1463-6C>A150094SIK1Likely benignrs148529513RCV000653206; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483842744838427GT21:g.44838427G>TClinGen:CA321325571C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1463-7C>T150094SIK1Benignrs142866662RCV000713287|RCV001083726; NMedGen:CN517202|MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483842844838428GA21:g.44838428G>AClinGen:CA321325572C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1463-7C>G150094SIK1Uncertain significancers142866662RCV000814932; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483842844838428GC21:g.44838428G>C-
NM_173354.5(SIK1):c.1462T>G (p.Cys488Gly)150094SIK1Likely benign-1RCV001034018; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483890144838901AC21:g.44838901A>C-
NM_173354.5(SIK1):c.1458G>A (p.Ala486=)150094SIK1Likely benignrs147572735RCV000909875; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483890544838905CT21:g.44838905C>T-
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)150094SIK1Conflicting interpretations of pathogenicityrs369897512RCV000696137; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483890644838906GA21:g.44838906G>A-
NM_173354.5(SIK1):c.1455C>T (p.Thr485=)150094SIK1Benignrs28510483RCV000516916|RCV000556496|RCV000715673; NMedGen:CN169374|MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phe214483890844838908GA21:g.44838908G>AClinGen:CA321325806C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1439G>A (p.Arg480His)150094SIK1Uncertain significance-1RCV001061304; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483892444838924CT21:g.44838924C>T-
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly)150094SIK1Uncertain significance-1RCV001196198; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483893344838933AC21:g.44838933A>C-
NM_173354.5(SIK1):c.1424C>T (p.Ala475Val)150094SIK1Likely benign-1RCV001034175; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483893944838939GA21:g.44838939G>A-
NM_173354.5(SIK1):c.1424C>G (p.Ala475Gly)150094SIK1Uncertain significance-1RCV001057184; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483893944838939GC21:g.44838939G>C-
NM_173354.5(SIK1):c.1418C>A (p.Thr473Asn)150094SIK1Uncertain significancers1555891084RCV000653185; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483894544838945GT21:g.44838945G>TClinGen:CA410608044C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1416C>T (p.His472=)150094SIK1Likely benignrs1555891087RCV000543964; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483894744838947GA21:g.44838947G>AClinGen:CA658658893C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1415A>T (p.His472Leu)150094SIK1Uncertain significance-1RCV001038968; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483894844838948TA21:g.44838948T>A-
NM_173354.5(SIK1):c.1404G>A (p.Thr468=)150094SIK1Likely benignrs147101451RCV000531623|RCV000718822; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483895944838959CT21:g.44838959C>TClinGen:CA321325852C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1393C>T (p.Pro465Ser)150094SIK1Uncertain significancers1569015116RCV000701386; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483897044838970GA21:g.44838970G>A-
NM_173354.5(SIK1):c.1388C>G (p.Ser463Cys)150094SIK1Uncertain significance-1RCV001064332; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483897544838975GC21:g.44838975G>C-
NM_173354.5(SIK1):c.1386G>A (p.Glu462=)150094SIK1Likely benignrs772722600RCV000909118; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483897744838977CT21:g.44838977C>T-
NM_173354.5(SIK1):c.1376_1381delinsCCTAGGAG (p.Asp459_Gln461delinsAlaTer)150094SIK1Uncertain significance-1RCV001247705; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483898244838987GCGTGTCTCCTAGG21:g.44838982_44838983insTCCTAGG-
NM_173354.5(SIK1):c.1380G>A (p.Thr460=)150094SIK1Likely benignrs373572087RCV000887624; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483898344838983CT21:g.44838983C>T-
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met)150094SIK1Benignrs761262141RCV000653186; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483898444838984GA21:g.44838984G>AClinGen:CA321325876C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1373A>G (p.Gln458Arg)150094SIK1Uncertain significance-1RCV001213103; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483899044838990TC21:g.44838990T>C-
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala)150094SIK1Benignrs377535420RCV000692954; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483899344838993TG21:g.44838993T>G-C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1368G>A (p.Glu456=)150094SIK1Likely benignrs1555891099RCV000653204; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483899544838995CT21:g.44838995C>TClinGen:CA658799459C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu)150094SIK1Likely benignrs1451348781RCV000802912; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483900844839008GA21:g.44839008G>A-
NM_173354.5(SIK1):c.1312A>G (p.Ser438Gly)150094SIK1Uncertain significance-1RCV001056761; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483905144839051TC21:g.44839051T>C-
NM_173354.5(SIK1):c.1309A>G (p.Ser437Gly)150094SIK1Likely benignrs151326084RCV000878479; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483905444839054TC21:g.44839054T>C-
NM_173354.5(SIK1):c.1300G>A (p.Val434Met)150094SIK1Likely benign-1RCV001034092; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483906344839063CT21:g.44839063C>T-
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp)150094SIK1Uncertain significance-1RCV001052270; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483906944839069GA21:g.44839069G>A-
NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln)150094SIK1Uncertain significancers143953116RCV000797209; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483907444839074CT21:g.44839074C>T-
NM_173354.5(SIK1):c.1278C>T (p.Ser426=)150094SIK1Benignrs539889673RCV000653198; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483908544839085GA21:g.44839085G>AClinGen:CA321325930C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1260G>A (p.Pro420=)150094SIK1Uncertain significancers776487308RCV000810364; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483910344839103CT21:g.44839103C>T-
NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu)150094SIK1Uncertain significancers181611369RCV000512961|RCV000802030; NMedGen:CN517202|MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483910444839104GA21:g.44839104G>AClinGen:CA321325947CN517202 not provided;
NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln)150094SIK1Uncertain significancers181611369RCV000543156; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483910444839104GT21:g.44839104G>TClinGen:CA321325951
NM_173354.5(SIK1):c.1246-5C>T150094SIK1Likely benignrs371389145RCV000878106; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483912244839122GA21:g.44839122G>A-
NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg)150094SIK1Uncertain significancers746408860RCV000653190|RCV001254960; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483925944839259AG21:g.44839259A>GClinGen:CA321326092C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1218C>G (p.Asp406Glu)150094SIK1Uncertain significance-1RCV001055367; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483926044839260GC21:g.44839260G>C-
NM_173354.5(SIK1):c.1208C>G (p.Ala403Gly)150094SIK1Uncertain significancers1601508504RCV000801484; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483927044839270GC21:g.44839270G>C-
NM_173354.5(SIK1):c.1205A>C (p.Gln402Pro)150094SIK1Uncertain significance-1RCV001219497; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483927344839273TG21:g.44839273T>G-
NM_173354.5(SIK1):c.1200C>T (p.Val400=)150094SIK1Likely benignrs1417285211RCV000911336; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483927844839278GA21:g.44839278G>A-
NM_173354.5(SIK1):c.1198G>T (p.Val400Phe)150094SIK1Uncertain significancers746671842RCV000814099; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483928044839280CA21:g.44839280C>A-
NM_173354.5(SIK1):c.1198G>A (p.Val400Ile)150094SIK1Uncertain significance-1RCV001229749; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483928044839280CT21:g.44839280C>T-
NM_173354.5(SIK1):c.1178C>T (p.Pro393Leu)150094SIK1Uncertain significance-1RCV001218183; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483930044839300GA21:g.44839300G>A-
NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu)150094SIK1Uncertain significance-1RCV001039028; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483930644839306GA21:g.44839306G>A-
NM_173354.5(SIK1):c.1152C>G (p.Phe384Leu)150094SIK1Uncertain significance-1RCV001233643; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483932644839326GC21:g.44839326G>C-
NM_173354.5(SIK1):c.1147C>G (p.Pro383Ala)150094SIK1Uncertain significance-1RCV001226028; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483933144839331GC21:g.44839331G>C-
NM_173354.5(SIK1):c.1144G>A (p.Asp382Asn)150094SIK1Likely benign-1RCV001034469; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483933444839334CT21:g.44839334C>T-
NM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr)150094SIK1Uncertain significancers1555891146RCV000554654; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483933944839339GT21:g.44839339G>TClinGen:CA410608641
NM_173354.5(SIK1):c.1139C>G (p.Ser380Cys)150094SIK1Uncertain significance-1RCV001224479; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483933944839339GC21:g.44839339G>C-
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys)150094SIK1Benignrs1374242563RCV000542044; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483934944839349CT21:g.44839349C>TClinGen:CA410608665C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1120-8G>A150094SIK1Likely benignrs375763167RCV000930170; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483936644839366CT21:g.44839366C>T-
NM_173354.5(SIK1):c.1119+7G>A150094SIK1Benignrs201075575RCV000653195; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483973244839732CT21:g.44839732C>TClinGen:CA321326445
NM_173354.5(SIK1):c.1119+6G>C150094SIK1Uncertain significance-1RCV001229427; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483973344839733CG21:g.44839733C>G-
NM_173354.5(SIK1):c.1105C>T (p.Leu369Phe)150094SIK1Uncertain significance-1RCV001044185; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483975344839753GA21:g.44839753G>A-
NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu)150094SIK1Likely benignrs146018004RCV000945893; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483975844839758GA21:g.44839758G>A-
NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln)150094SIK1Uncertain significancers780535115RCV000686120; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483976444839764CT21:g.44839764C>T-C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1093C>T (p.Arg365Trp)150094SIK1Uncertain significance-1RCV001215464; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483976544839765GA21:g.44839765G>A-
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln)150094SIK1Likely benign-1RCV001033973; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483977044839770CT21:g.44839770C>T-
NM_173354.5(SIK1):c.1086G>T (p.Pro362=)150094SIK1Likely benignrs139979941RCV000945887; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483977244839772CA21:g.44839772C>A-
NM_173354.5(SIK1):c.1077C>T (p.Ala359=)150094SIK1Benign/Likely benignrs149713367RCV000529739|RCV000718445; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483978144839781GA21:g.44839781G>AClinGen:CA321326487C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala)150094SIK1Benignrs145582574RCV000553595|RCV000720788; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483978644839786GC21:g.44839786G>CClinGen:CA321326489C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1069G>A (p.Gly357Arg)150094SIK1Uncertain significancers771103431RCV000653180; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483978944839789CT21:g.44839789C>TClinGen:CA321326494C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1064G>A (p.Arg355His)150094SIK1Likely benignrs759838082RCV000653188|RCV000717026; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214483979444839794CT21:g.44839794C>TClinGen:CA321326497C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr)150094SIK1Benign-1RCV001034421; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483979844839798CT21:g.44839798C>T-
NM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys)150094SIK1Likely benignrs754872537RCV000653184; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483981544839815TC21:g.44839815T>CClinGen:CA321326539C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter)150094SIK1Pathogenicrs786205160RCV000170345; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483981944839819CA21:g.44839819C>AClinGen:CA199549,OMIM:605705.0002C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.1031G>A (p.Arg344Gln)150094SIK1Uncertain significancers778543025RCV000693649; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214483982744839827CT21:g.44839827C>T-C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.966G>A (p.Thr322=)150094SIK1Benignrs148266853RCV000653208|RCV000717272; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214484012044840120CT21:g.44840120C>TClinGen:CA321326704C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp)150094SIK1Uncertain significance-1RCV001060866; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484013144840131GA21:g.44840131G>A-
NM_173354.5(SIK1):c.953A>C (p.Asp318Ala)150094SIK1Uncertain significance-1RCV001238855; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484013344840133TG21:g.44840133T>G-
NM_173354.5(SIK1):c.924G>A (p.Ala308=)150094SIK1Benign/Likely benignrs199738681RCV000653194|RCV000720838; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214484016244840162CT21:g.44840162C>TClinGen:CA321326739C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.923C>T (p.Ala308Val)150094SIK1Uncertain significance-1RCV001051821; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484016344840163GA21:g.44840163G>A-
NM_173354.5(SIK1):c.913G>A (p.Asp305Asn)150094SIK1Uncertain significance-1RCV001061431; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484017344840173CT21:g.44840173C>T-
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn)150094SIK1Uncertain significancers769181075RCV000538396; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484017944840179CT21:g.44840179C>TClinGen:CA321326752C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.901C>T (p.Leu301=)150094SIK1Likely benignrs1467859908RCV000923597; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484018544840185GA21:g.44840185G>A-
NM_173354.5(SIK1):c.881C>T (p.Ala294Val)150094SIK1Likely benignrs141114345RCV000653181|RCV000716511; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214484020544840205GA21:g.44840205G>AClinGen:CA321326767C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.879C>T (p.Ser293=)150094SIK1Likely benignrs138160311RCV000549679; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484020744840207GA21:g.44840207G>AClinGen:CA321326776
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr)150094SIK1Likely benignrs201889040RCV000968931; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484021544840215CT21:g.44840215C>T-
NM_173354.5(SIK1):c.862G>T (p.Ala288Ser)150094SIK1Uncertain significancers376891838RCV000653182; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484022444840224CA21:g.44840224C>AClinGen:CA321326840C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.862G>A (p.Ala288Thr)150094SIK1Uncertain significance-1RCV001222196; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484022444840224CT21:g.44840224C>T-
NM_173354.5(SIK1):c.859_861del (p.Pro287del)150094SIK1Benign/Likely benignrs374476526RCV000653200|RCV000719155; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214484022544840227CGGGC21:g.44840225_44840227delClinGen:CA321326844C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr)150094SIK1Pathogenicrs786205159RCV000170344; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484022744840227GT21:g.44840227G>TClinGen:CA199547,UniProtKB:P57059#VAR_073701,OMIM:605705.0001C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.855G>A (p.Pro285=)150094SIK1Benignrs549052367RCV000966701; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484023144840231CT21:g.44840231C>T-
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu)150094SIK1Benign-1RCV001034369; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484023244840232GA21:g.44840232G>A-
NM_173354.5(SIK1):c.849C>G (p.Cys283Trp)150094SIK1Uncertain significance-1RCV001233855; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484023744840237GC21:g.44840237G>C-
NM_173354.5(SIK1):c.826C>T (p.Arg276Trp)150094SIK1Uncertain significance-1RCV001205910; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484026044840260GA21:g.44840260G>A-
NM_173354.5(SIK1):c.808G>A (p.Ala270Thr)150094SIK1Likely benignrs571627997RCV000793213; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484027844840278CT21:g.44840278C>T-
NM_173354.5(SIK1):c.805A>G (p.Ile269Val)150094SIK1Uncertain significance-1RCV001039683; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484028144840281TC21:g.44840281T>C-
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr)150094SIK1Benign/Likely benignrs112011493RCV000542041|RCV000716249; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:214484029644840296CT21:g.44840296C>TClinGen:CA321326945C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.770G>A (p.Arg257His)150094SIK1Uncertain significance-1RCV001070315; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484031644840316CT21:g.44840316C>T-
NM_173354.5(SIK1):c.750C>G (p.Asp250Glu)150094SIK1Likely benign-1RCV001034247; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484033644840336GC21:g.44840336G>C-
NM_173354.5(SIK1):c.748+7C>T150094SIK1Likely benignrs200315286RCV000653196; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484088344840883GA21:g.44840883G>AClinGen:CA321327312C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.748G>A (p.Asp250Asn)150094SIK1Uncertain significancers1601509582RCV000794848; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484089044840890CT21:g.44840890C>T-
NM_173354.5(SIK1):c.709C>G (p.Leu237Val)150094SIK1Uncertain significancers1555891321RCV000653183; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484092944840929GC21:g.44840929G>CClinGen:CA410609586
NM_173354.5(SIK1):c.688C>A (p.Pro230Thr)150094SIK1Uncertain significance-1RCV001234531; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484095044840950GT21:g.44840950G>T-
NM_173354.5(SIK1):c.673G>C (p.Asp225His)150094SIK1Uncertain significance-1RCV001202187; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484096544840965CG21:g.44840965C>G-
NM_173354.5(SIK1):c.599A>G (p.Tyr200Cys)150094SIK1Uncertain significancers1601509903RCV000801772; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484114844841148TC21:g.44841148T>C-
NM_173354.5(SIK1):c.580G>A (p.Val194Ile)150094SIK1Uncertain significance-1RCV001060113; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484116744841167CT21:g.44841167C>T-
NM_173354.5(SIK1):c.564G>A (p.Pro188=)150094SIK1Likely benignrs373343445RCV000906345; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484118344841183CT21:g.44841183C>T-
NM_173354.5(SIK1):c.563C>G (p.Pro188Arg)150094SIK1Uncertain significance-1RCV001059468; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484118444841184GC21:g.44841184G>C-
NM_173354.5(SIK1):c.549G>T (p.Trp183Cys)150094SIK1Uncertain significance-1RCV001065515; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484119844841198CA21:g.44841198C>A-
NM_173354.5(SIK1):c.500-6G>T150094SIK1Likely benignrs537948000RCV000978041; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484125344841253CA21:g.44841253C>A-
NM_173354.5(SIK1):c.453G>A (p.Lys151=)150094SIK1Benignrs138750735RCV000952238; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484156444841564CT21:g.44841564C>T-
NM_173354.5(SIK1):c.436G>A (p.Val146Ile)150094SIK1Uncertain significancers762885522RCV000807486; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484158144841581CT21:g.44841581C>T-
NM_173354.5(SIK1):c.424G>C (p.Asp142His)150094SIK1Likely benign-1RCV001034027; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484159344841593CG21:g.44841593C>G-
NM_173354.5(SIK1):c.424G>A (p.Asp142Asn)150094SIK1Uncertain significance-1RCV001072040; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484159344841593CT21:g.44841593C>T-
NM_173354.5(SIK1):c.409G>A (p.Val137Met)150094SIK1Uncertain significancers141382693RCV000800063; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484160844841608CT21:g.44841608C>T-
NM_173354.5(SIK1):c.404C>T (p.Ser135Leu)150094SIK1Uncertain significancers780569607RCV000795133; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484161344841613GA21:g.44841613G>A-
NM_173354.5(SIK1):c.380G>A (p.Arg127Gln)150094SIK1Uncertain significancers111703795RCV000811438; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484163744841637CT21:g.44841637C>T-
NM_173354.5(SIK1):c.379C>T (p.Arg127Trp)150094SIK1Likely benign-1RCV001033982; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484163844841638GA21:g.44841638G>A-
NM_173354.5(SIK1):c.377C>T (p.Ala126Val)150094SIK1Likely benign-1RCV001034390; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484164044841640GA21:g.44841640G>A-
NM_173354.5(SIK1):c.372C>T (p.Asn124=)150094SIK1Likely benignrs776158971RCV000983714; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484164544841645GA21:g.44841645G>A-
NM_173354.5(SIK1):c.365G>A (p.Ser122Asn)150094SIK1Uncertain significancers745541081RCV000653191; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484165244841652CT21:g.44841652C>TClinGen:CA321328192
NM_173354.5(SIK1):c.338-9G>T150094SIK1Likely benignrs763842347RCV000902894; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484168844841688CA21:g.44841688C>A-
NM_173354.5(SIK1):c.331A>G (p.Met111Val)150094SIK1Uncertain significance-1RCV001210917; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484186044841860TC21:g.44841860T>C-
NM_173354.5(SIK1):c.306C>T (p.Val102=)150094SIK1Likely benignrs201331473RCV000548803; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484188544841885GA21:g.44841885G>AClinGen:CA321328434C4225360 616341 Epileptic encephalopathy, early infantile, 30;
NM_173354.5(SIK1):c.301A>G (p.Ile101Val)150094SIK1Uncertain significance-1RCV001050656; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484189044841890TC21:g.44841890T>C-
NM_173354.5(SIK1):c.274-3T>A150094SIK1Uncertain significance-1RCV001043197; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484192044841920AT21:g.44841920A>T-
NM_173354.5(SIK1):c.273+8G>T150094SIK1Benignrs370279333RCV000942287; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484527944845279CA21:g.44845279C>A-
NM_173354.5(SIK1):c.273+6G>C150094SIK1Uncertain significancers1352249378RCV000815353; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484528144845281CG21:g.44845281C>G-
NM_173354.5(SIK1):c.243G>C (p.Leu81=)150094SIK1Benignrs549478743RCV000941437; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484531744845317CG21:g.44845317C>G-
NM_173354.5(SIK1):c.233T>C (p.Met78Thr)150094SIK1Uncertain significancers1569017480RCV000686108; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484532744845327AG21:g.44845327A>G-
NM_173354.5(SIK1):c.232A>T (p.Met78Leu)150094SIK1Uncertain significancers1601511650RCV000811716; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484532844845328TA21:g.44845328T>A-
NM_173354.5(SIK1):c.207G>A (p.Glu69=)150094SIK1Likely benignrs201818967RCV000929568; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484535344845353CT21:g.44845353C>T-
NM_173354.5(SIK1):c.134G>A (p.Arg45Gln)150094SIK1Uncertain significance-1RCV001221771; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484592544845925CT21:g.44845925C>T-
NM_173354.5(SIK1):c.118G>A (p.Val40Met)150094SIK1Uncertain significance-1RCV001035511; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484594144845941CT21:g.44845941C>T-
NM_173354.5(SIK1):c.91C>G (p.Arg31Gly)150094SIK1Uncertain significance-1RCV001048407; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484596844845968GC21:g.44845968G>C-
NM_173354.5(SIK1):c.88G>C (p.Glu30Gln)150094SIK1Uncertain significance-1RCV001229257; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484597144845971CG21:g.44845971C>G-
NM_173354.5(SIK1):c.76T>G (p.Phe26Val)150094SIK1Uncertain significance-1RCV001056830; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484598344845983AC21:g.44845983A>C-
NM_173354.5(SIK1):c.50G>A (p.Gly17Asp)150094SIK1Uncertain significance-1RCV001067654; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484600944846009CT21:g.44846009C>T-
NM_173354.5(SIK1):c.46C>G (p.Gln16Glu)150094SIK1Uncertain significance-1RCV001236492; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484601344846013GC21:g.44846013G>C-
NM_173354.5(SIK1):c.37G>A (p.Gly13Ser)150094SIK1Uncertain significance-1RCV001060322; NMONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341214484602244846022CT21:g.44846022C>T-
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