SIK1 (salt inducible kinase 1) - Rat Genome Database

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Gene: SIK1 (salt inducible kinase 1) Homo sapiens
Analyze
Symbol: SIK1
Name: salt inducible kinase 1
RGD ID: 69451
HGNC Page HGNC
Description: Exhibits several functions, including 14-3-3 protein binding activity; ATP binding activity; and magnesium ion binding activity. Involved in intracellular signal transduction; positive regulation of anoikis; and protein autophosphorylation. Localizes to cytoplasm and nucleus. Implicated in developmental and epileptic encephalopathy 30.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DEE30; EIEE30; MSK; myocardial SNF1-like kinase; Probable serine/threonine-protein kinase SIK1B; salt-inducible kinase 1; Salt-inducible kinase 1B; salt-inducible protein kinase 1; serine/threonine protein kinase; serine/threonine-protein kinase SIK1; serine/threonine-protein kinase SNF1-like kinase 1; serine/threonine-protein kinase SNF1LK; SIK; SIK-1; SIK1B; SNF1-like kinase; SNF1LK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2143,414,483 - 43,427,131 (-)EnsemblGRCh38hg38GRCh38
GRCh382143,414,483 - 43,427,131 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372144,834,363 - 44,847,011 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,658,823 - 43,671,430 (-)NCBINCBI36hg18NCBI36
Build 342143,658,826 - 43,671,436NCBI
Celera2129,940,650 - 29,953,256 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2130,202,979 - 30,223,345 (-)NCBIHuRef
CHM1_12144,394,974 - 44,407,557 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-ethoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
astemizole  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carboplatin  (EXP)
chloroacetaldehyde  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
chromium atom  (EXP)
cidofovir anhydrous  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dieldrin  (EXP)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
ibuprofen  (EXP,ISO)
indole-3-methanol  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
melphalan  (EXP)
menadione  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (EXP)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (EXP)
nickel sulfate  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (EXP)
phenol  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
rac-lactic acid  (EXP)
ranitidine  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
sevoflurane  (ISO)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
Soman  (ISO)
sulfasalazine  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,ISS)
cytosol  (ISO)
nucleus  (IBA,IDA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of skin morphology  (IAGP)
Absent speech  (IAGP)
Absent thumbnail  (IAGP)
Anteverted nares  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad phalanx of the toes  (IAGP)
Cerebellar atrophy  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Death in infancy  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Eyelid myoclonias  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Lethargy  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Myoclonus  (IAGP)
Pachygyria  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal dysplasia  (IAGP)
Respiratory distress  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short finger  (IAGP)
Sleep disturbance  (IAGP)
Sloping forehead  (IAGP)
Spasticity  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
References

Additional References at PubMed
PMID:7893599   PMID:9920726   PMID:10830953   PMID:12477932   PMID:14976552   PMID:16306228   PMID:16341674   PMID:16396636   PMID:17565599   PMID:17939993   PMID:18348280   PMID:18725536  
PMID:18976975   PMID:19322201   PMID:19622832   PMID:20223287   PMID:20379614   PMID:21549091   PMID:21873635   PMID:21985311   PMID:21988832   PMID:22378783   PMID:22395973   PMID:23256157  
PMID:23577667   PMID:24061540   PMID:25384047   PMID:25839329   PMID:26590148   PMID:26673895   PMID:26719072   PMID:26760575   PMID:27081781   PMID:27592030   PMID:27911266   PMID:27966542  
PMID:28174122   PMID:28514442   PMID:29211348   PMID:29408765   PMID:29507755   PMID:31350327   PMID:31586073   PMID:31819138   PMID:32483145  


Genomics

Comparative Map Data
SIK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2143,414,483 - 43,427,131 (-)EnsemblGRCh38hg38GRCh38
GRCh382143,414,483 - 43,427,131 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372144,834,363 - 44,847,011 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,658,823 - 43,671,430 (-)NCBINCBI36hg18NCBI36
Build 342143,658,826 - 43,671,436NCBI
Celera2129,940,650 - 29,953,256 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2130,202,979 - 30,223,345 (-)NCBIHuRef
CHM1_12144,394,974 - 44,407,557 (-)NCBICHM1_1
Sik1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391732,063,222 - 32,074,808 (-)NCBIGRCm39mm39
GRCm39 Ensembl1732,063,224 - 32,074,778 (-)Ensembl
GRCm381731,844,248 - 31,855,804 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1731,844,250 - 31,855,804 (-)EnsemblGRCm38mm10GRCm38
MGSCv371731,981,195 - 31,992,737 (-)NCBIGRCm37mm9NCBIm37
MGSCv361731,572,967 - 31,584,494 (-)NCBImm8
Celera1732,760,486 - 32,771,258 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.25NCBI
Sik1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2209,949,407 - 9,959,036 (-)NCBI
Rnor_6.0 Ensembl2010,668,411 - 10,680,283 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02010,670,747 - 10,680,279 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02012,845,508 - 12,855,040 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42010,282,203 - 10,291,735 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12010,280,420 - 10,292,014 (-)NCBI
Celera2011,458,458 - 11,467,962 (-)NCBICelera
Cytogenetic Map20p12NCBI
Sik1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540738,739,062 - 38,749,293 (+)NCBIChiLan1.0ChiLan1.0
SIK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12142,975,914 - 42,987,948 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02129,675,040 - 29,689,408 (-)NCBIMhudiblu_PPA_v0panPan3
SIK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13137,455,130 - 37,466,829 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3136,610,274 - 36,622,021 (-)NCBI
ROS_Cfam_1.03136,998,123 - 37,010,456 (-)NCBI
UMICH_Zoey_3.13136,867,482 - 36,879,155 (-)NCBI
UNSW_CanFamBas_1.03136,852,129 - 36,863,810 (-)NCBI
UU_Cfam_GSD_1.03137,344,622 - 37,356,464 (-)NCBI
Sik1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497136,683,495 - 36,693,046 (-)NCBI
SpeTri2.0NW_004936500774,749 - 784,326 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SIK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113206,454,695 - 206,465,802 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213216,759,862 - 216,764,885 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219558
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1287,204,386 - 87,217,044 (-)NCBI
Sik1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474527,529,037 - 27,539,253 (+)NCBI

Position Markers
D21S1890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,848,178 - 44,848,330UniSTSGRCh37
Build 362143,672,606 - 43,672,758RGDNCBI36
Celera2129,954,432 - 29,954,586RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,216,721 - 30,216,887UniSTS
Marshfield Genetic Map2152.5RGD
Marshfield Genetic Map2152.5UniSTS
Genethon Genetic Map2157.7UniSTS
TNG Radiation Hybrid Map2117599.0UniSTS
deCODE Assembly Map2163.77UniSTS
G34752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,848,278 - 44,848,367UniSTSGRCh37
Build 362143,672,706 - 43,672,795RGDNCBI36
Celera2129,954,534 - 29,954,623RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,216,835 - 30,216,924UniSTS
e04503rbk  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,834,740 - 44,834,994UniSTSGRCh37
Build 362143,659,168 - 43,659,422RGDNCBI36
Celera2129,940,995 - 29,941,249RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,203,324 - 30,203,578UniSTS
GeneMap99-GB4 RH Map21227.32UniSTS
G64284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,834,922 - 44,835,143UniSTSGRCh37
Build 362143,659,350 - 43,659,571RGDNCBI36
Celera2129,941,177 - 29,941,398RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,203,506 - 30,203,727UniSTS
D21S413E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,834,868 - 44,834,991UniSTSGRCh37
Build 362143,659,296 - 43,659,419RGDNCBI36
Celera2129,941,123 - 29,941,246RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,203,452 - 30,203,575UniSTS
WI-18985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,834,657 - 44,834,930UniSTSGRCh37
Build 362143,659,085 - 43,659,358RGDNCBI36
Celera2129,940,912 - 29,941,185RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,203,241 - 30,203,514UniSTS
GeneMap99-GB4 RH Map21230.64UniSTS
Whitehead-RH Map21223.0UniSTS
NCBI RH Map21363.0UniSTS
RH69307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372144,834,557 - 44,834,660UniSTSGRCh37
Build 362143,658,985 - 43,659,088RGDNCBI36
Celera2129,940,812 - 29,940,915RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,203,141 - 30,203,244UniSTS
GeneMap99-GB4 RH Map21229.05UniSTS
NCBI RH Map21386.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1362
Count of miRNA genes:839
Interacting mature miRNAs:970
Transcripts:ENST00000270162, ENST00000478426
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 191 190 359 220 166 209 1160 78 234 197 310 293 15 1 317 625 2 1
Low 1271 1323 777 224 515 128 2047 1173 1391 137 694 817 103 585 1418 2 1
Below cutoff 942 1418 575 175 1015 123 1034 918 2037 76 428 468 56 302 744 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000270162   ⟹   ENSP00000270162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2143,414,483 - 43,427,131 (-)Ensembl
RefSeq Acc Id: ENST00000478426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2143,421,112 - 43,422,005 (-)Ensembl
RefSeq Acc Id: ENST00000644276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2143,425,306 - 43,427,092 (-)Ensembl
RefSeq Acc Id: ENST00000644689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2143,420,438 - 43,422,112 (-)Ensembl
RefSeq Acc Id: ENST00000644750   ⟹   ENSP00000495479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2143,421,676 - 43,426,853 (-)Ensembl
RefSeq Acc Id: ENST00000644871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2143,419,294 - 43,419,922 (-)Ensembl
RefSeq Acc Id: NM_173354   ⟹   NP_775490
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382143,414,483 - 43,427,131 (-)NCBI
GRCh372144,834,395 - 44,847,002 (-)RGD
Build 362143,658,823 - 43,671,430 (-)NCBI Archive
Celera2129,940,650 - 29,953,256 (-)RGD
HuRef2130,202,979 - 30,223,345 (-)RGD
CHM1_12144,394,974 - 44,407,557 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529474   ⟹   XP_011527776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382143,414,490 - 43,427,126 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_775490   ⟸   NM_173354
- UniProtKB: P57059 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527776   ⟸   XM_011529474
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000270162   ⟸   ENST00000270162
RefSeq Acc Id: ENSP00000495479   ⟸   ENST00000644750
Protein Domains
Protein kinase   UBA

Promoters
RGD ID:13602974
Promoter ID:EPDNEW_H27671
Type:initiation region
Name:SIK1_1
Description:salt inducible kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382143,427,131 - 43,427,191EPDNEW
RGD ID:6799578
Promoter ID:HG_KWN:41089
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000195655
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,665,876 - 43,667,192 (-)MPROMDB
RGD ID:6814700
Promoter ID:HG_XEF:5159
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_001126383,   NM_001140714,   NM_010831,   NM_021693,   NM_204682
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,670,241 - 43,670,847 (-)MPROMDB
RGD ID:6799577
Promoter ID:HG_KWN:41090
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000195654
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,671,321 - 43,671,977 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173354.5(SIK1):c.1482C>T (p.Ser494=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000550361] Chr21:43418522 [GRCh38]
Chr21:44838402 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000551430] Chr21:43418400 [GRCh38]
Chr21:44838280 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000547209]|Seizures [RCV000717702] Chr21:43416952 [GRCh38]
Chr21:44836832 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000548146] Chr21:43416852 [GRCh38]
Chr21:44836732 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000553595]|Seizures [RCV000720788] Chr21:43419906 [GRCh38]
Chr21:44839786 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000556496]|Seizures [RCV000715673]|not specified [RCV000516916] Chr21:43419028 [GRCh38]
Chr21:44838908 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000542041]|Seizures [RCV000716249] Chr21:43420416 [GRCh38]
Chr21:44840296 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.1416C>T (p.His472=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000543964] Chr21:43419067 [GRCh38]
Chr21:44838947 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001084738]|Seizures [RCV000717956]|not provided [RCV000559968] Chr21:43419195 [GRCh38]
Chr21:44839075 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000543156] Chr21:43419224 [GRCh38]
Chr21:44839104 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1470C>T (p.Val490=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000557287]|Seizures [RCV000715502] Chr21:43418534 [GRCh38]
Chr21:44838414 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.1782G>A (p.Thr594=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000552354] Chr21:43417737 [GRCh38]
Chr21:44837617 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000554654] Chr21:43419459 [GRCh38]
Chr21:44839339 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000559345]|Seizures [RCV000716363] Chr21:43416920 [GRCh38]
Chr21:44836800 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000542044] Chr21:43419469 [GRCh38]
Chr21:44839349 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_173354.5(SIK1):c.114C>A (p.Phe38Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001349313] Chr21:43426065 [GRCh38]
Chr21:44845945 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000170344] Chr21:43420347 [GRCh38]
Chr21:44840227 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000170345] Chr21:43419939 [GRCh38]
Chr21:44839819 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000170346] Chr21:43417679 [GRCh38]
Chr21:44837559 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000170347] Chr21:43417622 [GRCh38]
Chr21:44837502 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000170348] Chr21:43417613 [GRCh38]
Chr21:44837493 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.468G>A (p.Leu156=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001331846] Chr21:43421669 [GRCh38]
Chr21:44841549 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1634C>T (p.Ser545Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001348281] Chr21:43418370 [GRCh38]
Chr21:44838250 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001331845] Chr21:43417615 [GRCh38]
Chr21:44837495 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
Single allele duplication Normal pregnancy [RCV000161897] Chr21:43401987..43433979 [GRCh38]
Chr21:44821867..44853859 [GRCh37]
Chr21:21q22.3
not provided
NM_173354.5(SIK1):c.306C>T (p.Val102=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000548803] Chr21:43422005 [GRCh38]
Chr21:44841885 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 copy number loss See cases [RCV000240216] Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.1463-7C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001083726]|not provided [RCV000713287] Chr21:43418548 [GRCh38]
Chr21:44838428 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.930T>C (p.Gly310=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001082117]|Seizures [RCV000716021]|not provided [RCV000713295] Chr21:43420276 [GRCh38]
Chr21:44840156 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.2093C>T (p.Pro698Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000558419] Chr21:43417001 [GRCh38]
Chr21:44836881 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.879C>T (p.Ser293=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000549679] Chr21:43420327 [GRCh38]
Chr21:44840207 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000553286] Chr21:43417080 [GRCh38]
Chr21:44836960 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000560539]|Seizures [RCV000716252] Chr21:43416851 [GRCh38]
Chr21:44836731 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_43892908)_(45629566_?)dup duplication Primary ciliary dyskinesia [RCV000552378] Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1210G>A (p.Glu404Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001345589]|not provided [RCV000316940] Chr21:43419388 [GRCh38]
Chr21:44839268 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2191C>A (p.His731Asn) single nucleotide variant not provided [RCV000522362] Chr21:43416903 [GRCh38]
Chr21:44836783 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000526239] Chr21:43418515 [GRCh38]
Chr21:44838395 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000529739]|Seizures [RCV000718445] Chr21:43419901 [GRCh38]
Chr21:44839781 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001083721]|Seizures [RCV000716038]|not provided [RCV000713288] Chr21:43418399 [GRCh38]
Chr21:44838279 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.2121G>A (p.Pro707=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000530212]|Seizures [RCV000720172] Chr21:43416973 [GRCh38]
Chr21:44836853 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1404G>A (p.Thr468=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000531623]|Seizures [RCV000718822] Chr21:43419079 [GRCh38]
Chr21:44838959 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000538396] Chr21:43420299 [GRCh38]
Chr21:44840179 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.1641C>T (p.Ser547=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000539603] Chr21:43418363 [GRCh38]
Chr21:44838243 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000540526]|Seizures [RCV000717041] Chr21:43417045 [GRCh38]
Chr21:44836925 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.693G>A (p.Thr231=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001084216]|Seizures [RCV000715623]|not provided [RCV000713293] Chr21:43421065 [GRCh38]
Chr21:44840945 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.948C>T (p.Gly316=) single nucleotide variant Seizures [RCV000715704]|not provided [RCV000713296] Chr21:43420258 [GRCh38]
Chr21:44840138 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.274-3del deletion Epileptic encephalopathy, early infantile, 30 [RCV001080379]|Seizures [RCV000718667]|not provided [RCV000421813] Chr21:43422040 [GRCh38]
Chr21:44841920 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000546024]|Seizures [RCV000716537]|not provided [RCV000424372] Chr21:43417007 [GRCh38]
Chr21:44836887 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000990353]|Seizures [RCV000716434]|not provided [RCV000435369] Chr21:43419383 [GRCh38]
Chr21:44839263 [GRCh37]
Chr21:21q22.3
benign|likely benign
GRCh37/hg19 21q22.3(chr21:44652664-44836490)x3 copy number gain See cases [RCV000448487] Chr21:44652664..44836490 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.906C>T (p.Gly302=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001083722]|Seizures [RCV000716024]|not provided [RCV000713294] Chr21:43420300 [GRCh38]
Chr21:44840180 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.951G>T (p.Val317=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001086260]|Seizures [RCV000718400]|not provided [RCV000713297] Chr21:43420255 [GRCh38]
Chr21:44840135 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000529277]|Seizures [RCV000717395] Chr21:43417022 [GRCh38]
Chr21:44836902 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1926C>T (p.Ala642=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000532637] Chr21:43417593 [GRCh38]
Chr21:44837473 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000535373]|Seizures [RCV000718645] Chr21:43416890 [GRCh38]
Chr21:44836770 [GRCh37]
Chr21:21q22.3
benign|likely benign
NC_000021.8:g.(?_44836602)_(44837674_?)dup duplication Epileptic encephalopathy, early infantile, 30 [RCV000541267] Chr21:43416722..43417794 [GRCh38]
Chr21:44836602..44837674 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1463-5C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000536953]|Seizures [RCV000720707] Chr21:43418546 [GRCh38]
Chr21:44838426 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000538008]|Seizures [RCV000720381] Chr21:43418533 [GRCh38]
Chr21:44838413 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1554G>T (p.Ala518=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000538949]|Seizures [RCV000715880] Chr21:43418450 [GRCh38]
Chr21:44838330 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1069G>A (p.Gly357Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653180] Chr21:43419909 [GRCh38]
Chr21:44839789 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.881C>T (p.Ala294Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653181]|Seizures [RCV000716511]|not provided [RCV001287961] Chr21:43420325 [GRCh38]
Chr21:44840205 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.862G>T (p.Ala288Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653182] Chr21:43420344 [GRCh38]
Chr21:44840224 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.709C>G (p.Leu237Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653183] Chr21:43421049 [GRCh38]
Chr21:44840929 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653184] Chr21:43419935 [GRCh38]
Chr21:44839815 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653186] Chr21:43419104 [GRCh38]
Chr21:44838984 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653187] Chr21:43418433 [GRCh38]
Chr21:44838313 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1064G>A (p.Arg355His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653188]|Seizures [RCV000717026] Chr21:43419914 [GRCh38]
Chr21:44839794 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653189]|Seizures [RCV000717289] Chr21:43418451 [GRCh38]
Chr21:44838331 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653190]|Seizures [RCV001254960] Chr21:43419379 [GRCh38]
Chr21:44839259 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653191] Chr21:43421772 [GRCh38]
Chr21:44841652 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653192] Chr21:43417585 [GRCh38]
Chr21:44837465 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_173354.5(SIK1):c.1418C>A (p.Thr473Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653185] Chr21:43419065 [GRCh38]
Chr21:44838945 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1744+10G>A single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001086018]|not provided [RCV000653193] Chr21:43418250 [GRCh38]
Chr21:44838130 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.924G>A (p.Ala308=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653194]|Seizures [RCV000720838] Chr21:43420282 [GRCh38]
Chr21:44840162 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.1119+7G>A single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653195] Chr21:43419852 [GRCh38]
Chr21:44839732 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.748+7C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653196] Chr21:43421003 [GRCh38]
Chr21:44840883 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2202T>C (p.Ile734=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653197] Chr21:43416892 [GRCh38]
Chr21:44836772 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1278C>T (p.Ser426=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653198] Chr21:43419205 [GRCh38]
Chr21:44839085 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1992G>A (p.Gln664=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653199] Chr21:43417102 [GRCh38]
Chr21:44836982 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.117G>C (p.Ala39=) single nucleotide variant not provided [RCV000653201] Chr21:43426062 [GRCh38]
Chr21:44845942 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2208C>T (p.Thr736=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653202] Chr21:43416886 [GRCh38]
Chr21:44836766 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1917C>T (p.Gly639=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653203] Chr21:43417602 [GRCh38]
Chr21:44837482 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1368G>A (p.Glu456=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653204] Chr21:43419115 [GRCh38]
Chr21:44838995 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1875G>T (p.Leu625=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653205] Chr21:43417644 [GRCh38]
Chr21:44837524 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1463-6C>A single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653206] Chr21:43418547 [GRCh38]
Chr21:44838427 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653207]|Seizures [RCV000720051] Chr21:43416934 [GRCh38]
Chr21:44836814 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.966G>A (p.Thr322=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653208]|Seizures [RCV000717272] Chr21:43420240 [GRCh38]
Chr21:44840120 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1530C>G (p.Thr510=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653209] Chr21:43418474 [GRCh38]
Chr21:44838354 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1463-5C>G single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000653210] Chr21:43418546 [GRCh38]
Chr21:44838426 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.859_861del (p.Pro287del) deletion Epileptic encephalopathy, early infantile, 30 [RCV000653200]|Seizures [RCV000719155] Chr21:43420345..43420347 [GRCh38]
Chr21:44840225..44840227 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000802030]|not provided [RCV000512961] Chr21:43419224 [GRCh38]
Chr21:44839104 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1828C>T (p.Arg610Cys) single nucleotide variant Inborn genetic diseases [RCV000624457] Chr21:43417691 [GRCh38]
Chr21:44837571 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.408C>T (p.Ala136=) single nucleotide variant not provided [RCV000658925] Chr21:43421729 [GRCh38]
Chr21:44841609 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_173354.5(SIK1):c.2104C>A (p.Leu702Ile) single nucleotide variant Seizures [RCV000717400] Chr21:43416990 [GRCh38]
Chr21:44836870 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2154G>A (p.Ala718=) single nucleotide variant Seizures [RCV000717207] Chr21:43416940 [GRCh38]
Chr21:44836820 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.233T>C (p.Met78Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000686108] Chr21:43425447 [GRCh38]
Chr21:44845327 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000700529] Chr21:43417676 [GRCh38]
Chr21:44837556 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000686120] Chr21:43419884 [GRCh38]
Chr21:44839764 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1393C>T (p.Pro465Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000701386] Chr21:43419090 [GRCh38]
Chr21:44838970 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr) single nucleotide variant Seizures [RCV000716965] Chr21:43420331 [GRCh38]
Chr21:44840211 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000990352]|Seizures [RCV000715234]|not provided [RCV000713289] Chr21:43417675 [GRCh38]
Chr21:44837555 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) single nucleotide variant Seizures [RCV000715276]|not provided [RCV000713292] Chr21:43426136 [GRCh38]
Chr21:44846016 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.2074C>G (p.Pro692Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000689060] Chr21:43417020 [GRCh38]
Chr21:44836900 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1745-2A>G single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000691881] Chr21:43417776 [GRCh38]
Chr21:44837656 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2011C>T (p.Pro671Ser) single nucleotide variant Seizures [RCV000716556] Chr21:43417083 [GRCh38]
Chr21:44836963 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) single nucleotide variant Seizures [RCV000715283]|not provided [RCV000713290] Chr21:43417671 [GRCh38]
Chr21:44837551 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000692954] Chr21:43419113 [GRCh38]
Chr21:44838993 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.1031G>A (p.Arg344Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000693649] Chr21:43419947 [GRCh38]
Chr21:44839827 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000696137] Chr21:43419026 [GRCh38]
Chr21:44838906 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000691190] Chr21:43418466 [GRCh38]
Chr21:44838346 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000693990] Chr21:43416986 [GRCh38]
Chr21:44836866 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000689045] Chr21:43416801 [GRCh38]
Chr21:44836681 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs) insertion Epileptic encephalopathy, early infantile, 30 [RCV000706153] Chr21:43417675..43417676 [GRCh38]
Chr21:44837555..44837556 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1463-3C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000946247]|Seizures [RCV000715828] Chr21:43418544 [GRCh38]
Chr21:44838424 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000954028]|Seizures [RCV000716966] Chr21:43419183 [GRCh38]
Chr21:44839063 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.546G>T (p.Thr182=) single nucleotide variant Seizures [RCV000716967] Chr21:43421321 [GRCh38]
Chr21:44841201 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000792606]|Seizures [RCV000717571] Chr21:43419444 [GRCh38]
Chr21:44839324 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1143C>T (p.Thr381=) single nucleotide variant Seizures [RCV000715825]|not provided [RCV000902848] Chr21:43419455 [GRCh38]
Chr21:44839335 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000969586]|Seizures [RCV000717741] Chr21:43426175 [GRCh38]
Chr21:44846055 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.2217C>T (p.Thr739=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000929977]|Seizures [RCV000718385] Chr21:43416877 [GRCh38]
Chr21:44836757 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro) single nucleotide variant Seizures [RCV000718734] Chr21:43417061 [GRCh38]
Chr21:44836941 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser) single nucleotide variant Seizures [RCV000717706] Chr21:43417008 [GRCh38]
Chr21:44836888 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001039542]|Seizures [RCV000718723] Chr21:43416885 [GRCh38]
Chr21:44836765 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034283]|Seizures [RCV000720078] Chr21:43417089 [GRCh38]
Chr21:44836969 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.1403C>T (p.Thr468Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001043301]|Seizures [RCV000720227] Chr21:43419080 [GRCh38]
Chr21:44838960 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034152]|Seizures [RCV000720828] Chr21:43417035 [GRCh38]
Chr21:44836915 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_173354.5(SIK1):c.345G>A (p.Leu115=) single nucleotide variant Seizures [RCV000720913] Chr21:43421792 [GRCh38]
Chr21:44841672 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2182C>T (p.Leu728=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000959505]|Seizures [RCV000718910] Chr21:43416912 [GRCh38]
Chr21:44836792 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2127G>A (p.Leu709=) single nucleotide variant Seizures [RCV000719044] Chr21:43416967 [GRCh38]
Chr21:44836847 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2166C>T (p.Ala722=) single nucleotide variant Seizures [RCV000719289] Chr21:43416928 [GRCh38]
Chr21:44836808 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034082]|Seizures [RCV000720391]|not provided [RCV000997834] Chr21:43416982 [GRCh38]
Chr21:44836862 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_173354.5(SIK1):c.2148C>T (p.Thr716=) single nucleotide variant Seizures [RCV000720546] Chr21:43416946 [GRCh38]
Chr21:44836826 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1046G>A (p.Arg349Gln) single nucleotide variant Seizures [RCV000720409] Chr21:43419932 [GRCh38]
Chr21:44839812 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001089340]|Seizures [RCV000720121]|not provided [RCV000951895] Chr21:43419419 [GRCh38]
Chr21:44839299 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001057377]|Seizures [RCV000720534] Chr21:43417046 [GRCh38]
Chr21:44836926 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu) single nucleotide variant Seizures [RCV000720591] Chr21:43416869 [GRCh38]
Chr21:44836749 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.11T>C (p.Met4Thr) single nucleotide variant Seizures [RCV000720912] Chr21:43426168 [GRCh38]
Chr21:44846048 [GRCh37]
Chr21:21q22.3
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44821867-44839153)x3 copy number gain not provided [RCV000741599] Chr21:44821867..44839153 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44823479-44838661)x3 copy number gain not provided [RCV000741600] Chr21:44823479..44838661 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44823479-44853859)x3 copy number gain not provided [RCV000741601] Chr21:44823479..44853859 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44825536-44838661)x3 copy number gain not provided [RCV000741602] Chr21:44825536..44838661 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44825536-44839263)x3 copy number gain not provided [RCV000741603] Chr21:44825536..44839263 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44825536-44845968)x3 copy number gain not provided [RCV000741604] Chr21:44825536..44845968 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44834825-44860542)x1 copy number loss not provided [RCV000741605] Chr21:44834825..44860542 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44835301-44852616)x3 copy number gain not provided [RCV000741606] Chr21:44835301..44852616 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44835301-44853859)x3 copy number gain not provided [RCV000741607] Chr21:44835301..44853859 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44835301-44865282)x3 copy number gain not provided [RCV000741608] Chr21:44835301..44865282 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44835301-44871189)x3 copy number gain not provided [RCV000741609] Chr21:44835301..44871189 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44835508-44852616)x3 copy number gain not provided [RCV000741610] Chr21:44835508..44852616 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44835508-44854995)x3 copy number gain not provided [RCV000741611] Chr21:44835508..44854995 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:44836770-44848070)x4 copy number gain not provided [RCV000741612] Chr21:44836770..44848070 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_173354.5(SIK1):c.1463-6C>G single nucleotide variant not provided [RCV000960439] Chr21:43418547 [GRCh38]
Chr21:44838427 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1744+7C>G single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000897072] Chr21:43418253 [GRCh38]
Chr21:44838133 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1725G>A (p.Ser575=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000950334] Chr21:43418279 [GRCh38]
Chr21:44838159 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1086G>T (p.Pro362=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000945887] Chr21:43419892 [GRCh38]
Chr21:44839772 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.338-9G>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000902894] Chr21:43421808 [GRCh38]
Chr21:44841688 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1173G>A (p.Pro391=) single nucleotide variant not provided [RCV000898623] Chr21:43419425 [GRCh38]
Chr21:44839305 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2175G>A (p.Ala725=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000905596] Chr21:43416919 [GRCh38]
Chr21:44836799 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.207G>A (p.Glu69=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000929568] Chr21:43425473 [GRCh38]
Chr21:44845353 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.564G>A (p.Pro188=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000906345] Chr21:43421303 [GRCh38]
Chr21:44841183 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.855G>A (p.Pro285=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000966701] Chr21:43420351 [GRCh38]
Chr21:44840231 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.901C>T (p.Leu301=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000923597] Chr21:43420305 [GRCh38]
Chr21:44840185 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1119+5_1119+6dup duplication not provided [RCV000882951] Chr21:43419849..43419850 [GRCh38]
Chr21:44839729..44839730 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1246-5C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000878106] Chr21:43419242 [GRCh38]
Chr21:44839122 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2226C>G (p.Pro742=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000920335] Chr21:43416868 [GRCh38]
Chr21:44836748 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.372C>T (p.Asn124=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000983714] Chr21:43421765 [GRCh38]
Chr21:44841645 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1309A>G (p.Ser437Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000878479] Chr21:43419174 [GRCh38]
Chr21:44839054 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1830C>T (p.Arg610=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000982238] Chr21:43417689 [GRCh38]
Chr21:44837569 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.913G>A (p.Asp305Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001061431] Chr21:43420293 [GRCh38]
Chr21:44840173 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001055769] Chr21:43416876 [GRCh38]
Chr21:44836756 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001061491] Chr21:43416822 [GRCh38]
Chr21:44836702 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1594G>A (p.Ala532Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001061501] Chr21:43418410 [GRCh38]
Chr21:44838290 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001039028] Chr21:43419426 [GRCh38]
Chr21:44839306 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_44838120)_(45629566_?)del deletion Progressive myoclonic epilepsy [RCV001031044] Chr21:44838120..45629566 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.2161G>T (p.Val721Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001051514] Chr21:43416933 [GRCh38]
Chr21:44836813 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.563C>G (p.Pro188Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001059468] Chr21:43421304 [GRCh38]
Chr21:44841184 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2000C>T (p.Pro667Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001042815] Chr21:43417094 [GRCh38]
Chr21:44836974 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.379C>T (p.Arg127Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001033982] Chr21:43421758 [GRCh38]
Chr21:44841638 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034029] Chr21:43416872 [GRCh38]
Chr21:44836752 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.91C>G (p.Arg31Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001048407] Chr21:43426088 [GRCh38]
Chr21:44845968 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NC_000021.8:g.(?_44838120)_(45629566_?)dup duplication Progressive myoclonic epilepsy [RCV001032749] Chr21:44838120..45629566 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1989A>C (p.Leu663Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001048558] Chr21:43417105 [GRCh38]
Chr21:44836985 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.424G>A (p.Asp142Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001072040] Chr21:43421713 [GRCh38]
Chr21:44841593 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.805A>G (p.Ile269Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001039683] Chr21:43420401 [GRCh38]
Chr21:44840281 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.580G>A (p.Val194Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001060113] Chr21:43421287 [GRCh38]
Chr21:44841167 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034369] Chr21:43420352 [GRCh38]
Chr21:44840232 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001039763]|not provided [RCV001171964] Chr21:43418452 [GRCh38]
Chr21:44838332 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.409G>A (p.Val137Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000800063] Chr21:43421728 [GRCh38]
Chr21:44841608 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.436G>A (p.Val146Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000807486] Chr21:43421701 [GRCh38]
Chr21:44841581 [GRCh37]
Chr21:21q22.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.232A>T (p.Met78Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000811716] Chr21:43425448 [GRCh38]
Chr21:44845328 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1422G>A (p.Leu474=) single nucleotide variant not provided [RCV000975520] Chr21:43419061 [GRCh38]
Chr21:44838941 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1197C>T (p.Ser399=) single nucleotide variant not provided [RCV000960425] Chr21:43419401 [GRCh38]
Chr21:44839281 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.156+10G>A single nucleotide variant not provided [RCV000979454] Chr21:43426013 [GRCh38]
Chr21:44845893 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.984C>T (p.Asn328=) single nucleotide variant not provided [RCV000931641] Chr21:43419994 [GRCh38]
Chr21:44839874 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1386G>A (p.Glu462=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000909118] Chr21:43419097 [GRCh38]
Chr21:44838977 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.273+8G>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000942287] Chr21:43425399 [GRCh38]
Chr21:44845279 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.500-6G>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000978041] Chr21:43421373 [GRCh38]
Chr21:44841253 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1770G>A (p.Leu590=) single nucleotide variant not provided [RCV000920329] Chr21:43417749 [GRCh38]
Chr21:44837629 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_173354.5(SIK1):c.380G>A (p.Arg127Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000811438] Chr21:43421757 [GRCh38]
Chr21:44841637 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1628T>C (p.Leu543Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000817324] Chr21:43418376 [GRCh38]
Chr21:44838256 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1198G>T (p.Val400Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000814099] Chr21:43419400 [GRCh38]
Chr21:44839280 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1870G>A (p.Gly624Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000797255] Chr21:43417649 [GRCh38]
Chr21:44837529 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.748G>A (p.Asp250Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000794848] Chr21:43421010 [GRCh38]
Chr21:44840890 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.591G>C (p.Gly197=) single nucleotide variant not provided [RCV000937901] Chr21:43421276 [GRCh38]
Chr21:44841156 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.3:c.1259C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000802030]   uncertain significance
NM_173354.5(SIK1):c.599A>G (p.Tyr200Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000801772] Chr21:43421268 [GRCh38]
Chr21:44841148 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000802912] Chr21:43419128 [GRCh38]
Chr21:44839008 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NC_000021.8:g.(?_43892908)_(45629566_?)del deletion Epileptic encephalopathy, early infantile, 30 [RCV001346941]|Primary ciliary dyskinesia [RCV000802591] Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3
pathogenic|uncertain significance
NM_173354.5(SIK1):c.273+6G>C single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000815353] Chr21:43425401 [GRCh38]
Chr21:44845281 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser) indel Epileptic encephalopathy, early infantile, 30 [RCV000805726] Chr21:43416837..43416838 [GRCh38]
Chr21:44836717..44836718 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1260G>A (p.Pro420=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000810364] Chr21:43419223 [GRCh38]
Chr21:44839103 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000816229] Chr21:43417604 [GRCh38]
Chr21:44837484 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1208C>G (p.Ala403Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000801484] Chr21:43419390 [GRCh38]
Chr21:44839270 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1568C>T (p.Thr523Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000816343] Chr21:43418436 [GRCh38]
Chr21:44838316 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.50G>A (p.Gly17Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001067654] Chr21:43426129 [GRCh38]
Chr21:44846009 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1918G>A (p.Gly640Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000822965] Chr21:43417601 [GRCh38]
Chr21:44837481 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.274-3T>A single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001043197] Chr21:43422040 [GRCh38]
Chr21:44841920 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000803098] Chr21:43416962 [GRCh38]
Chr21:44836842 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1554G>A (p.Ala518=) single nucleotide variant not provided [RCV000978233] Chr21:43418450 [GRCh38]
Chr21:44838330 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1463-7C>G single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000814932] Chr21:43418548 [GRCh38]
Chr21:44838428 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.808G>A (p.Ala270Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000793213] Chr21:43420398 [GRCh38]
Chr21:44840278 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.3:c.1154G>A single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000792606]   uncertain significance
NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000795133] Chr21:43421733 [GRCh38]
Chr21:44841613 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000797209] Chr21:43419194 [GRCh38]
Chr21:44839074 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1734A>C (p.Ser578=) single nucleotide variant not provided [RCV000977139] Chr21:43418270 [GRCh38]
Chr21:44838150 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1356G>A (p.Pro452=) single nucleotide variant not provided [RCV000976613] Chr21:43419127 [GRCh38]
Chr21:44839007 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.243G>C (p.Leu81=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000941437] Chr21:43425437 [GRCh38]
Chr21:44845317 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1179G>T (p.Pro393=) single nucleotide variant not provided [RCV000918611] Chr21:43419419 [GRCh38]
Chr21:44839299 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.751_752TG[1] (p.Cys251_Glu252delinsTer) microsatellite not provided [RCV001091468] Chr21:43420452..43420453 [GRCh38]
Chr21:44840332..44840333 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001058555]|not provided [RCV000997833] Chr21:43416774 [GRCh38]
Chr21:44836654 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_44836602)_(45629566_?)del deletion Epileptic encephalopathy, early infantile, 30 [RCV001031043] Chr21:44836602..45629566 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-45120173)x3 copy number gain not provided [RCV000848696] Chr21:44577746..45120173 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu) single nucleotide variant not provided [RCV000992982] Chr21:43419893 [GRCh38]
Chr21:44839773 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44735958-45448138)x3 copy number gain not provided [RCV000849244] Chr21:44735958..45448138 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.549G>T (p.Trp183Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001065515] Chr21:43421318 [GRCh38]
Chr21:44841198 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3
pathogenic
NM_173354.5(SIK1):c.2052T>A (p.Phe684Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001219898] Chr21:43417042 [GRCh38]
Chr21:44836922 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001202826] Chr21:43417082 [GRCh38]
Chr21:44836962 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001220600] Chr21:43416974 [GRCh38]
Chr21:44836854 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1535C>T (p.Ser512Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001237453] Chr21:43418469 [GRCh38]
Chr21:44838349 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1178C>T (p.Pro393Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001218183] Chr21:43419420 [GRCh38]
Chr21:44839300 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2004_2016del (p.Ala670fs) deletion Epileptic encephalopathy, early infantile, 30 [RCV001209832] Chr21:43417078..43417090 [GRCh38]
Chr21:44836958..44836970 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001221397]|not provided [RCV001311574] Chr21:43417592 [GRCh38]
Chr21:44837472 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.134G>A (p.Arg45Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001221771] Chr21:43426045 [GRCh38]
Chr21:44845925 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2172G>A (p.Ala724=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001226535] Chr21:43416922 [GRCh38]
Chr21:44836802 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1139C>G (p.Ser380Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001224479] Chr21:43419459 [GRCh38]
Chr21:44839339 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1147C>G (p.Pro383Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001226028] Chr21:43419451 [GRCh38]
Chr21:44839331 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.953A>C (p.Asp318Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001238855] Chr21:43420253 [GRCh38]
Chr21:44840133 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.862G>A (p.Ala288Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001222196] Chr21:43420344 [GRCh38]
Chr21:44840224 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1373A>G (p.Gln458Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001213103] Chr21:43419110 [GRCh38]
Chr21:44838990 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1376_1381delinsCCTAGGAG (p.Asp459_Gln461delinsAlaTer) indel Epileptic encephalopathy, early infantile, 30 [RCV001247705] Chr21:43419102..43419107 [GRCh38]
Chr21:44838982..44838987 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.999C>T (p.His333=) single nucleotide variant not provided [RCV000918043] Chr21:43419979 [GRCh38]
Chr21:44839859 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1620G>A (p.Ser540=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000930480] Chr21:43418384 [GRCh38]
Chr21:44838264 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1623C>T (p.Pro541=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000883421] Chr21:43418381 [GRCh38]
Chr21:44838261 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.453G>A (p.Lys151=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000952238] Chr21:43421684 [GRCh38]
Chr21:44841564 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.400C>T (p.Leu134=) single nucleotide variant not provided [RCV000931702] Chr21:43421737 [GRCh38]
Chr21:44841617 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1458G>A (p.Ala486=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000909875] Chr21:43419025 [GRCh38]
Chr21:44838905 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000960770] Chr21:43416935 [GRCh38]
Chr21:44836815 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1449A>T (p.Pro483=) single nucleotide variant not provided [RCV000918633] Chr21:43419034 [GRCh38]
Chr21:44838914 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2058C>T (p.Ile686=) single nucleotide variant not provided [RCV000900919] Chr21:43417036 [GRCh38]
Chr21:44836916 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1338G>A (p.Glu446=) single nucleotide variant not provided [RCV000919617] Chr21:43419145 [GRCh38]
Chr21:44839025 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2226C>T (p.Pro742=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000887493] Chr21:43416868 [GRCh38]
Chr21:44836748 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1068C>T (p.Pro356=) single nucleotide variant not provided [RCV000910705] Chr21:43419910 [GRCh38]
Chr21:44839790 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000945893] Chr21:43419878 [GRCh38]
Chr21:44839758 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1380G>A (p.Thr460=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000887624] Chr21:43419103 [GRCh38]
Chr21:44838983 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000968931] Chr21:43420335 [GRCh38]
Chr21:44840215 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2088G>A (p.Pro696=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000882554]|not provided [RCV001200273] Chr21:43417006 [GRCh38]
Chr21:44836886 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1744+9C>T single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000951193] Chr21:43418251 [GRCh38]
Chr21:44838131 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1395C>T (p.Pro465=) single nucleotide variant not provided [RCV000951958] Chr21:43419088 [GRCh38]
Chr21:44838968 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1120-8G>A single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000930170] Chr21:43419486 [GRCh38]
Chr21:44839366 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1888G>A (p.Ala630Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001049016] Chr21:43417631 [GRCh38]
Chr21:44837511 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001218516] Chr21:43417663 [GRCh38]
Chr21:44837543 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1932C>G (p.Ser644Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001203202] Chr21:43417587 [GRCh38]
Chr21:44837467 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001203465] Chr21:43417598 [GRCh38]
Chr21:44837478 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.46C>G (p.Gln16Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001236492] Chr21:43426133 [GRCh38]
Chr21:44846013 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1834G>A (p.Val612Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001245082] Chr21:43417685 [GRCh38]
Chr21:44837565 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001219908] Chr21:43418385 [GRCh38]
Chr21:44838265 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001043950] Chr21:43417687 [GRCh38]
Chr21:44837567 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_173354.5(SIK1):c.1105C>T (p.Leu369Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001044185] Chr21:43419873 [GRCh38]
Chr21:44839753 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.9:g.(?_43413515)_(43428122_?)dup duplication Epileptic encephalopathy, early infantile, 30 [RCV001033295] Chr21:44833395..44848002 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001209770] Chr21:43416789 [GRCh38]
Chr21:44836669 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1119+6G>C single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001229427] Chr21:43419853 [GRCh38]
Chr21:44839733 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1462T>G (p.Cys488Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034018] Chr21:43419021 [GRCh38]
Chr21:44838901 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1424C>T (p.Ala475Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034175] Chr21:43419059 [GRCh38]
Chr21:44838939 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001227940] Chr21:43418499 [GRCh38]
Chr21:44838379 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034421] Chr21:43419918 [GRCh38]
Chr21:44839798 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.36G>C (p.Ala12=) single nucleotide variant not provided [RCV000935705] Chr21:43426143 [GRCh38]
Chr21:44846023 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1246-4G>A single nucleotide variant not provided [RCV000891324] Chr21:43419241 [GRCh38]
Chr21:44839121 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1200C>T (p.Val400=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000911336] Chr21:43419398 [GRCh38]
Chr21:44839278 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1722G>A (p.Ala574=) single nucleotide variant not provided [RCV000913608] Chr21:43418282 [GRCh38]
Chr21:44838162 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000913745] Chr21:43416867 [GRCh38]
Chr21:44836747 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.1560C>T (p.Leu520=) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV000889232] Chr21:43418444 [GRCh38]
Chr21:44838324 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
NM_173354.5(SIK1):c.424G>C (p.Asp142His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034027] Chr21:43421713 [GRCh38]
Chr21:44841593 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034067] Chr21:43418410 [GRCh38]
Chr21:44838290 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034204] Chr21:43417049 [GRCh38]
Chr21:44836929 [GRCh37]
Chr21:21q22.3
benign
NM_173354.5(SIK1):c.2191C>T (p.His731Tyr) single nucleotide variant Seizures [RCV001003369] Chr21:43416903 [GRCh38]
Chr21:44836783 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1487C>T (p.Thr496Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001049620] Chr21:43418517 [GRCh38]
Chr21:44838397 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001033973]|not provided [RCV001287960] Chr21:43419890 [GRCh38]
Chr21:44839770 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001033991] Chr21:43417060 [GRCh38]
Chr21:44836940 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity
NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034041] Chr21:43418265 [GRCh38]
Chr21:44838145 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1300G>A (p.Val434Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034092] Chr21:43419183 [GRCh38]
Chr21:44839063 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.770G>A (p.Arg257His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001070315] Chr21:43420436 [GRCh38]
Chr21:44840316 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1144G>A (p.Asp382Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034469] Chr21:43419454 [GRCh38]
Chr21:44839334 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.88G>C (p.Glu30Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001229257] Chr21:43426091 [GRCh38]
Chr21:44845971 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1849G>A (p.Ala617Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001207379] Chr21:43417670 [GRCh38]
Chr21:44837550 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.688C>A (p.Pro230Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001234531] Chr21:43421070 [GRCh38]
Chr21:44840950 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.37G>A (p.Gly13Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001060322] Chr21:43426142 [GRCh38]
Chr21:44846022 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1538C>A (p.Ala513Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001232312] Chr21:43418466 [GRCh38]
Chr21:44838346 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
NM_173354.5(SIK1):c.1885C>T (p.His629Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001247179] Chr21:43417634 [GRCh38]
Chr21:44837514 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001060866] Chr21:43420251 [GRCh38]
Chr21:44840131 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1439G>A (p.Arg480His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001061304] Chr21:43419044 [GRCh38]
Chr21:44838924 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:44620109-44958565)x3 copy number gain not provided [RCV001007141] Chr21:44620109..44958565 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1515dup (p.Asp506Ter) duplication Epileptic encephalopathy, early infantile, 30 [RCV001234176] Chr21:43418488..43418489 [GRCh38]
Chr21:44838368..44838369 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1538C>G (p.Ala513Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001207846] Chr21:43418466 [GRCh38]
Chr21:44838346 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.923C>T (p.Ala308Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001051821] Chr21:43420283 [GRCh38]
Chr21:44840163 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1833G>T (p.Gln611His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001204891] Chr21:43417686 [GRCh38]
Chr21:44837566 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2153C>T (p.Ala718Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001218048] Chr21:43416941 [GRCh38]
Chr21:44836821 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1552G>A (p.Ala518Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001054775] Chr21:43418452 [GRCh38]
Chr21:44838332 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_173354.5(SIK1):c.1152C>G (p.Phe384Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001233643] Chr21:43419446 [GRCh38]
Chr21:44839326 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1093C>T (p.Arg365Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001215464] Chr21:43419885 [GRCh38]
Chr21:44839765 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.331A>G (p.Met111Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001210917] Chr21:43421980 [GRCh38]
Chr21:44841860 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1205A>C (p.Gln402Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001219497] Chr21:43419393 [GRCh38]
Chr21:44839273 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001052270] Chr21:43419189 [GRCh38]
Chr21:44839069 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.673G>C (p.Asp225His) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001202187] Chr21:43421085 [GRCh38]
Chr21:44840965 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1781C>T (p.Thr594Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001248297] Chr21:43417738 [GRCh38]
Chr21:44837618 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001196198] Chr21:43419053 [GRCh38]
Chr21:44838933 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.849C>G (p.Cys283Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001233855] Chr21:43420357 [GRCh38]
Chr21:44840237 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034368] Chr21:43418541 [GRCh38]
Chr21:44838421 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.377C>T (p.Ala126Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034390] Chr21:43421760 [GRCh38]
Chr21:44841640 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.826C>T (p.Arg276Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001205910] Chr21:43420380 [GRCh38]
Chr21:44840260 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1198G>A (p.Val400Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001229749] Chr21:43419400 [GRCh38]
Chr21:44839280 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.118G>A (p.Val40Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001035511] Chr21:43426061 [GRCh38]
Chr21:44845941 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1388C>G (p.Ser463Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001064332] Chr21:43419095 [GRCh38]
Chr21:44838975 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43822539-44974001)x3 copy number gain not provided [RCV001007139] Chr21:43822539..44974001 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.301A>G (p.Ile101Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001050656] Chr21:43422010 [GRCh38]
Chr21:44841890 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1218C>G (p.Asp406Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001055367] Chr21:43419380 [GRCh38]
Chr21:44839260 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:44736485-44968648)x3 copy number gain not provided [RCV001007142] Chr21:44736485..44968648 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1312A>G (p.Ser438Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001056761] Chr21:43419171 [GRCh38]
Chr21:44839051 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.76T>G (p.Phe26Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001056830] Chr21:43426103 [GRCh38]
Chr21:44845983 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.750C>G (p.Asp250Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034247] Chr21:43420456 [GRCh38]
Chr21:44840336 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1424C>G (p.Ala475Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001057184] Chr21:43419059 [GRCh38]
Chr21:44838939 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1475C>T (p.Ser492Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001034434] Chr21:43418529 [GRCh38]
Chr21:44838409 [GRCh37]
Chr21:21q22.3
likely benign
NM_173354.5(SIK1):c.1415A>T (p.His472Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001038968] Chr21:43419068 [GRCh38]
Chr21:44838948 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:44717197-44926001)x3 copy number gain not provided [RCV001259415] Chr21:44717197..44926001 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1063C>T (p.Arg355Cys) single nucleotide variant Inborn genetic diseases [RCV001266053] Chr21:43419915 [GRCh38]
Chr21:44839795 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.339T>G (p.Asp113Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001313626] Chr21:43421798 [GRCh38]
Chr21:44841678 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1999C>A (p.Pro667Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001295243] Chr21:43417095 [GRCh38]
Chr21:44836975 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1231A>G (p.Ser411Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001304377] Chr21:43419367 [GRCh38]
Chr21:44839247 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1283T>G (p.Val428Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001303148] Chr21:43419200 [GRCh38]
Chr21:44839080 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_173354.5(SIK1):c.817C>G (p.Arg273Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001295943] Chr21:43420389 [GRCh38]
Chr21:44840269 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.368A>T (p.Glu123Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001342355] Chr21:43421769 [GRCh38]
Chr21:44841649 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.646G>A (p.Val216Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001300989] Chr21:43421112 [GRCh38]
Chr21:44840992 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1580_1581del (p.Gln527fs) deletion Epileptic encephalopathy, early infantile, 30 [RCV001340247] Chr21:43418423..43418424 [GRCh38]
Chr21:44838303..44838304 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.800T>C (p.Ile267Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001342871] Chr21:43420406 [GRCh38]
Chr21:44840286 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.140G>T (p.Arg47Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001326265] Chr21:43426039 [GRCh38]
Chr21:44845919 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1571_1572delinsTC (p.Pro524Leu) indel Epileptic encephalopathy, early infantile, 30 [RCV001315562] Chr21:43418432..43418433 [GRCh38]
Chr21:44838312..44838313 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.949G>A (p.Val317Met) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001298332] Chr21:43420257 [GRCh38]
Chr21:44840137 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1988T>C (p.Leu663Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001296179] Chr21:43417106 [GRCh38]
Chr21:44836986 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2179C>T (p.Leu727Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001304220] Chr21:43416915 [GRCh38]
Chr21:44836795 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1295G>A (p.Arg432Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001342490] Chr21:43419188 [GRCh38]
Chr21:44839068 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1553C>G (p.Ala518Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001320826] Chr21:43418451 [GRCh38]
Chr21:44838331 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1939G>A (p.Gly647Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001337673] Chr21:43417580 [GRCh38]
Chr21:44837460 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1693C>T (p.Pro565Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001295041] Chr21:43418311 [GRCh38]
Chr21:44838191 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.956G>A (p.Arg319Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001308103] Chr21:43420250 [GRCh38]
Chr21:44840130 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1667G>A (p.Gly556Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001327319] Chr21:43418337 [GRCh38]
Chr21:44838217 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1691T>C (p.Leu564Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001326055] Chr21:43418313 [GRCh38]
Chr21:44838193 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1087C>T (p.Arg363Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001326076] Chr21:43419891 [GRCh38]
Chr21:44839771 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1133G>T (p.Gly378Val) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001315309] Chr21:43419465 [GRCh38]
Chr21:44839345 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2165C>A (p.Ala722Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001300081] Chr21:43416929 [GRCh38]
Chr21:44836809 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.779T>C (p.Val260Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001320262] Chr21:43420427 [GRCh38]
Chr21:44840307 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1969C>G (p.Gln657Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001324270] Chr21:43417550 [GRCh38]
Chr21:44837430 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1904C>G (p.Pro635Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001316860] Chr21:43417615 [GRCh38]
Chr21:44837495 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.2111C>T (p.Ser704Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001323392] Chr21:43416983 [GRCh38]
Chr21:44836863 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.938A>G (p.Gln313Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001345399] Chr21:43420268 [GRCh38]
Chr21:44840148 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.206del (p.Glu69fs) deletion Epileptic encephalopathy, early infantile, 30 [RCV001347978] Chr21:43425474 [GRCh38]
Chr21:44845354 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1243T>C (p.Trp415Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001322619] Chr21:43419355 [GRCh38]
Chr21:44839235 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1135C>A (p.Leu379Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001318304] Chr21:43419463 [GRCh38]
Chr21:44839343 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.223G>A (p.Val75Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001318402] Chr21:43425457 [GRCh38]
Chr21:44845337 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1877G>T (p.Ser626Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001305968] Chr21:43417642 [GRCh38]
Chr21:44837522 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.769C>T (p.Arg257Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001326566] Chr21:43420437 [GRCh38]
Chr21:44840317 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_173354.5(SIK1):c.1783C>T (p.Arg595Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 30 [RCV001339659] Chr21:43417736 [GRCh38]
Chr21:44837616 [GRCh37]
Chr21:21q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11142 AgrOrtholog
COSMIC SIK1 COSMIC
Ensembl Genes ENSG00000142178 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000270162 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495479 UniProtKB/TrEMBL
Ensembl Transcript ENST00000270162 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644750 UniProtKB/TrEMBL
GTEx ENSG00000142178 GTEx
HGNC ID HGNC:11142 ENTREZGENE
Human Proteome Map SIK1 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_SIK1/2 UniProtKB/Swiss-Prot
  SIK UniProtKB/Swiss-Prot
  UBA UniProtKB/Swiss-Prot
KEGG Report hsa:102724428 UniProtKB/Swiss-Prot
  hsa:150094 UniProtKB/Swiss-Prot
NCBI Gene 150094 ENTREZGENE
OMIM 605705 OMIM
  616341 OMIM
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164725717 PharmGKB
PIRSF Ser/Thr_PK_SNF1-like UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
  UBA UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6E4_HUMAN UniProtKB/TrEMBL
  P57059 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NC84 UniProtKB/Swiss-Prot
  Q5R2V5 UniProtKB/Swiss-Prot
  Q6ZNL8 UniProtKB/Swiss-Prot
  Q86YJ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 SIK1  salt inducible kinase 1    salt-inducible kinase 1  Symbol and/or name change 5135510 APPROVED