EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3) - Rat Genome Database

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Gene: EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3) Homo sapiens
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Symbol: EIF2AK3
Name: eukaryotic translation initiation factor 2 alpha kinase 3
RGD ID: 1354090
HGNC Page HGNC:3255
Description: Enables eukaryotic translation initiation factor 2alpha kinase activity; identical protein binding activity; and protein phosphatase binding activity. Involved in several processes, including ER overload response; cellular response to starvation; and positive regulation of macromolecule biosynthetic process. Located in membrane. Implicated in Wolcott-Rallison syndrome and type 1 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781H1925; eukaryotic translation initiation factor 2-alpha kinase 3; heme-regulated EIF2-alpha kinase; HRI; hsPEK; pancreatic eIF-2alpha kinase; pancreatic EIF2-alpha kinase; PEK; PERK; PKR-like ER kinase; PRKR-like endoplasmic reticulum kinase; truncated eukaryotic translation initiation factor 2 alpha kinase 3; WRS
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
GRCh38288,556,741 - 88,628,145 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl288,556,741 - 88,691,518 (-)EnsemblGRCh38hg38GRCh38
GRCh37288,856,259 - 88,926,982 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36288,637,374 - 88,708,109 (-)NCBINCBI36Build 36hg18NCBI36
Build 34288,695,522 - 88,766,221NCBI
Celera287,859,255 - 87,930,028 (+)NCBICelera
Cytogenetic Map2p11.2NCBI
HuRef287,778,073 - 87,848,926 (-)NCBIHuRef
CHM1_1288,785,816 - 88,856,644 (-)NCBICHM1_1
T2T-CHM13v2.0288,568,747 - 88,640,715 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
2-tert-butylhydroquinone  (EXP)
3-acetyldeoxynivalenol  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methyladenine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-phenylbutyric acid  (EXP,ISO)
5-fluorouracil  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
abamectin  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
agomelatine  (ISO)
aldehydo-D-glucosamine  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
Alisol B  (EXP)
all-trans-retinoic acid  (ISO)
alpha-D-galactose  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
apocynin  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (EXP)
Aurin  (EXP)
Azaspiracid  (EXP)
BAPTA  (EXP)
benomyl  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (EXP)
beta-D-glucosamine  (EXP,ISO)
bilirubin IXalpha  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
boric acid  (ISO)
bortezomib  (EXP,ISO)
brefeldin A  (EXP)
bufalin  (EXP)
busulfan  (ISO)
C.I. Natural Red 20  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP,ISO)
cannabigerol  (ISO)
cantharidin  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chloroacetic acid  (ISO)
chlorogenic acid  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
chrysophanol  (EXP)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
clofibric acid  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
corilagin  (ISO)
coumarin  (EXP)
coumestrol  (EXP)
cyanocob(III)alamin  (ISO)
cycloheximide  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cyfluthrin  (ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
D-penicillamine  (EXP)
dantrolene  (ISO)
dapagliflozin  (ISO)
deguelin  (EXP)
demethoxycurcumin  (EXP)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
dimethylarsinous acid  (ISO)
dioxygen  (ISO)
diquat  (ISO)
disodium selenite  (EXP)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP,ISO)
doxorubicin  (ISO)
efavirenz  (EXP)
empagliflozin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
epoxomicin  (ISO)
ethanol  (EXP,ISO)
EUK-134  (EXP)
Evodiamine  (EXP)
fenofibrate  (ISO)
fentin chloride  (ISO)
fisetin  (EXP)
flavokawain B  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fructose  (ISO)
fumonisin B1  (EXP)
gadolinium trichloride  (ISO)
galactose  (ISO)
geraniol  (EXP)
glucose  (EXP,ISO)
glutathione  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GSK2656157  (ISO)
hemin  (ISO)
hesperidin  (ISO)
hexadecanoic acid  (EXP,ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
Ibutilide  (ISO)
indinavir  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
kainic acid  (ISO)
ketoconazole  (ISO)
L-1,4-dithiothreitol  (EXP,ISO)
L-glutamic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
Licochalcone B  (EXP)
linsidomine  (EXP)
lipopolysaccharide  (EXP,ISO)
lycopene  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
Mecamylamine  (ISO)
meglumine amidotrizoate  (ISO)
melatonin  (ISO)
metformin  (EXP,ISO)
methamphetamine  (EXP,ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP,ISO)
methylseleninic acid  (EXP)
mevastatin  (ISO)
microcystin-LR  (ISO)
minocycline  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
morin  (ISO)
morphine  (ISO)
N,N-dimethylformamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
naltrexone  (EXP)
niclosamide  (EXP)
nicotine  (ISO)
nifedipine  (ISO)
Niflumic acid  (EXP)
Norbinaltorphimine  (EXP)
ochratoxin A  (EXP)
oleic acid  (EXP)
orlistat  (ISO)
ouabain  (EXP)
oxaliplatin  (ISO)
oxidopamine  (ISO)
paclitaxel  (EXP,ISO)
paracetamol  (ISO)
paraquat  (EXP,ISO)
Pendulone  (EXP)
perfluorohexanesulfonic acid  (ISO)
perhexiline  (EXP)
pirinixic acid  (ISO)
pitavastatin  (EXP)
pitavastatin(1-)  (EXP)
platycodin D  (EXP)
potassium dichromate  (EXP,ISO)
proanthocyanidin  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
propiconazole  (ISO)
psoralen  (EXP)
pterostilbene  (EXP)
pyrazinecarboxamide  (EXP,ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (EXP,ISO)
rotenone  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
Salinomycin  (EXP)
Salvianolic acid A  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
sertraline  (EXP)
Shikonin  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Sodium iodate  (EXP)
sorafenib  (EXP)
streptozocin  (ISO)
sulforaphane  (EXP)
sulindac  (EXP)
sunitinib  (EXP)
Sunset Yellow FCF  (EXP)
T-2 toxin  (EXP)
tartrazine  (EXP)
tauroursodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
thioacetamide  (ISO)
thymoquinone  (EXP)
titanium dioxide  (EXP,ISO)
toosendanin  (EXP,ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclocarban  (EXP)
Triptolide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP,ISO)
uranium atom  (ISO)
urethane  (EXP)
ursolic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vanillic acid  (EXP)
vildagliptin  (ISO)
vincristine  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc oxide  (ISO)
zinc protoporphyrin  (ISO)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IMP)
bone mineralization  (ISO,ISS)
calcium-mediated signaling  (ISO,ISS)
cellular response to amino acid starvation  (IMP)
cellular response to cold  (IMP)
cellular response to glucose starvation  (IMP)
chondrocyte development  (ISO,ISS)
endocrine pancreas development  (IMP)
endoplasmic reticulum organization  (ISO,ISS)
endoplasmic reticulum unfolded protein response  (IDA,ISO,TAS)
ER overload response  (IDA)
ERAD pathway  (ISO)
fat cell differentiation  (ISO)
insulin-like growth factor receptor signaling pathway  (ISO,ISS)
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  (ISO)
lactation  (ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of myelination  (ISO,ISS)
negative regulation of translation  (ISO,TAS)
negative regulation of translation in response to endoplasmic reticulum stress  (ISO)
negative regulation of translation in response to stress  (IEA,ISO)
negative regulation of translational initiation  (TAS)
negative regulation of translational initiation in response to stress  (TAS)
ossification  (IMP)
pancreas development  (ISO)
PERK-mediated unfolded protein response  (TAS)
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (ISO)
positive regulation of gene expression  (IMP)
positive regulation of glutathione biosynthetic process  (ISO)
positive regulation of protein localization to nucleus  (ISS)
positive regulation of signal transduction  (ISO)
positive regulation of transcription by RNA polymerase I  (IMP)
positive regulation of vascular endothelial growth factor production  (IMP)
protein autophosphorylation  (ISO)
protein phosphorylation  (ISO)
regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation  (ISS)
regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IMP)
regulation of fatty acid metabolic process  (ISO)
regulation of translation  (IEA)
regulation of translational initiation  (ISO)
response to endoplasmic reticulum stress  (IEA,IMP)
response to manganese-induced endoplasmic reticulum stress  (IEA)
response to unfolded protein  (IEA)
skeletal system development  (ISO,ISS)
SREBP signaling pathway  (ISO)
translation  (ISO)
translational initiation  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the liver  (IAGP)
Acute hepatic failure  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Brain imaging abnormality  (IAGP)
Carpal bone hypoplasia  (IAGP)
Central hypothyroidism  (IAGP)
Chronic kidney disease  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Coxa valga  (IAGP)
Decreased body weight  (IAGP)
Dehydration  (IAGP)
Depressed nasal bridge  (IAGP)
Difficulty walking  (IAGP)
Double outlet right ventricle  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Epiphyseal dysplasia  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Fever  (IAGP)
Flattened epiphysis  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hepatic encephalopathy  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hip subluxation  (IAGP)
Hyperammonemia  (IAGP)
Hyperbilirubinemia  (IAGP)
Hyperlordosis  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoalbuminemia  (IAGP)
Hyponatremia  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypothyroidism  (IAGP)
Infantile onset  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intellectual disability  (IAGP)
Iron deficiency anemia  (IAGP)
Irregular carpal bones  (IAGP)
Irregular tarsal ossification  (IAGP)
Irregular vertebral endplates  (IAGP)
Ivory epiphyses of the phalanges of the hand  (IAGP)
Ivory epiphyses of the toes  (IAGP)
Jaundice  (IAGP)
Ketoacidosis  (IAGP)
Lymphocytosis  (IAGP)
Metaphyseal dysplasia  (IAGP)
Microcephaly  (IAGP)
Multiple epiphyseal dysplasia  (IAGP)
Muscle weakness  (IAGP)
Narrow iliac wing  (IAGP)
Neonatal insulin-dependent diabetes mellitus  (IAGP)
Neutropenia  (IAGP)
Osteoporosis  (IAGP)
Platyspondyly  (IAGP)
Preauricular pit  (IAGP)
Recurrent infections  (IAGP)
Reduced pancreatic beta cells  (IAGP)
Renal insufficiency  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Shortening of all middle phalanges of the fingers  (IAGP)
Skeletal dysplasia  (IAGP)
Small epiphyses  (IAGP)
Strabismus  (IAGP)
Type I diabetes mellitus  (IAGP)
Upslanted palpebral fissure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The EIF2AK3 gene region and type I diabetes in subjects from South India. Allotey RA, etal., Genes Immun. 2004 Dec;5(8):648-52.
2. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Delepine M, etal., Nat Genet 2000 Aug;25(4):406-9.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Cellular communication network factor 1 (CCN1) knockdown exerts a protective effect for hepatic ischemia/reperfusion injury by deactivating the MEK/ERK pathway. Liu H, etal., Clin Res Hepatol Gastroenterol. 2021 Sep;45(5):101737. doi: 10.1016/j.clinre.2021.101737. Epub 2021 Jun 16.
5. Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. Manaud G, etal., Am J Respir Cell Mol Biol. 2020 Jul;63(1):118-131. doi: 10.1165/rcmb.2019-0015OC.
6. Renal ischemia and reperfusion activates the eIF 2 alpha kinase PERK. Montie HL, etal., Biochim Biophys Acta. 2005 Sep 25;1741(3):314-24.
7. Naltrexone changes the expression of lipid metabolism-related proteins in the endoplasmic reticulum stress induced hepatic steatosis in mice. Moslehi A, etal., Clin Exp Pharmacol Physiol. 2017 Feb;44(2):207-212. doi: 10.1111/1440-1681.12695.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. The dysregulation of endoplasmic reticulum stress response in acute-on-chronic liver failure patients caused by acute exacerbation of chronic hepatitis B. Ren F, etal., J Viral Hepat. 2016 Jan;23(1):23-31. doi: 10.1111/jvh.12438. Epub 2015 Jul 31.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. The impact of the unfolded protein response on human disease. Wang S and Kaufman RJ, J Cell Biol. 2012 Jun 25;197(7):857-67. doi: 10.1083/jcb.201110131.
15. LncRNA H19 inhibits ER stress induced apoptosis and improves diabetic cardiomyopathy by regulating PI3K/AKT/mTOR axis. Wang S, etal., Aging (Albany NY). 2022 Aug 30;14(16):6809-6828. doi: 10.18632/aging.204256. Epub 2022 Aug 30.
16. MTORC1 coordinates the autophagy and apoptosis signaling in articular chondrocytes in osteoarthritic temporomandibular joint. Yang H, etal., Autophagy. 2020 Feb;16(2):271-288. doi: 10.1080/15548627.2019.1606647. Epub 2019 Apr 21.
Additional References at PubMed
PMID:1677563   PMID:8099443   PMID:9819435   PMID:10026192   PMID:10542257   PMID:10575235   PMID:10677345   PMID:10848580   PMID:11555640   PMID:11907036   PMID:12014989   PMID:12086964  
PMID:12370288   PMID:12446770   PMID:12446838   PMID:12477932   PMID:12610133   PMID:14517290   PMID:15146197   PMID:15220213   PMID:15234121   PMID:15489334   PMID:15650164   PMID:16147992  
PMID:16148948   PMID:16288713   PMID:16344560   PMID:16712791   PMID:16720581   PMID:17229688   PMID:17785458   PMID:17823375   PMID:18063576   PMID:18216498   PMID:18426796   PMID:18451152  
PMID:18664456   PMID:18787411   PMID:19009018   PMID:19029953   PMID:19061639   PMID:19586904   PMID:19816510   PMID:19837917   PMID:19913121   PMID:19946888   PMID:20072656   PMID:20103619  
PMID:20202148   PMID:20348950   PMID:20371724   PMID:20379614   PMID:20457808   PMID:20463975   PMID:20628086   PMID:20709135   PMID:20800603   PMID:20881960   PMID:21385877   PMID:21419175  
PMID:21464971   PMID:21518408   PMID:21648287   PMID:21685912   PMID:21709020   PMID:21873635   PMID:22013210   PMID:22028037   PMID:22072062   PMID:22169477   PMID:22246806   PMID:22253692  
PMID:22354021   PMID:22446326   PMID:22795130   PMID:22813743   PMID:22915762   PMID:22917505   PMID:22934019   PMID:22956602   PMID:23000344   PMID:23103912   PMID:23110043   PMID:23116876  
PMID:23160380   PMID:23294542   PMID:23471998   PMID:23585173   PMID:23592989   PMID:23759358   PMID:23830192   PMID:24097291   PMID:24103755   PMID:24114838   PMID:24168455   PMID:24252572  
PMID:24457600   PMID:24462114   PMID:24594363   PMID:24664756   PMID:24705811   PMID:24813399   PMID:24846185   PMID:24874742   PMID:25131821   PMID:25183803   PMID:25203443   PMID:25226532  
PMID:25329545   PMID:25393282   PMID:25409632   PMID:25429064   PMID:25475719   PMID:25579883   PMID:25609649   PMID:25633195   PMID:25675914   PMID:25692299   PMID:25761777   PMID:25798074  
PMID:25925385   PMID:25976671   PMID:25976933   PMID:25996949   PMID:26078722   PMID:26186194   PMID:26225772   PMID:26239904   PMID:26259235   PMID:26268696   PMID:26279443   PMID:26446798  
PMID:26472337   PMID:26486079   PMID:26634309   PMID:26638075   PMID:26642955   PMID:27079961   PMID:27094326   PMID:27141928   PMID:27145240   PMID:27181404   PMID:27187154   PMID:27211800  
PMID:27238082   PMID:27272779   PMID:27375025   PMID:27384111   PMID:27502501   PMID:27573888   PMID:27725157   PMID:27796753   PMID:27917829   PMID:27977682   PMID:28105371   PMID:28238652  
PMID:28251435   PMID:28358375   PMID:28416388   PMID:28418119   PMID:28423496   PMID:28499449   PMID:28507169   PMID:28514442   PMID:28688763   PMID:28692057   PMID:28867195   PMID:28948615  
PMID:29036441   PMID:29080374   PMID:29168198   PMID:29230015   PMID:29273589   PMID:29395067   PMID:29507755   PMID:29529249   PMID:29568061   PMID:29851562   PMID:29991528   PMID:30084053  
PMID:30088945   PMID:30118681   PMID:30134920   PMID:30137327   PMID:30204972   PMID:30293566   PMID:30314817   PMID:30675021   PMID:30717233   PMID:30747823   PMID:30926605   PMID:31023583  
PMID:31056421   PMID:31177093   PMID:31211507   PMID:31312024   PMID:31421261   PMID:31543404   PMID:31691973   PMID:31695187   PMID:31736227   PMID:31792031   PMID:31869409   PMID:31871319  
PMID:31930117   PMID:31961055   PMID:32107308   PMID:32166747   PMID:32204380   PMID:32216767   PMID:32451439   PMID:32614325   PMID:32615282   PMID:32877691   PMID:32938586   PMID:32943707  
PMID:32945472   PMID:33051453   PMID:33109440   PMID:33277529   PMID:33485865   PMID:33500333   PMID:33833850   PMID:33856033   PMID:33870911   PMID:33951764   PMID:33957083   PMID:33961781  
PMID:34015761   PMID:34052329   PMID:34065980   PMID:34079125   PMID:34131176   PMID:34134991   PMID:34244565   PMID:34360909   PMID:34432599   PMID:34623328   PMID:34664059   PMID:34709727  
PMID:34725321   PMID:34847866   PMID:35185383   PMID:35266960   PMID:35271311   PMID:35501370   PMID:35559673   PMID:35696571   PMID:35922637   PMID:35944360   PMID:36030031   PMID:36305789  
PMID:36563857   PMID:36584479   PMID:36696173   PMID:36821088   PMID:37166058   PMID:37197981   PMID:37496439   PMID:37536085   PMID:37774976   PMID:37890465   PMID:37931956   PMID:37937642  
PMID:38113892  


Genomics

Comparative Map Data
EIF2AK3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38288,556,741 - 88,628,145 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl288,556,741 - 88,691,518 (-)EnsemblGRCh38hg38GRCh38
GRCh37288,856,259 - 88,926,982 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36288,637,374 - 88,708,109 (-)NCBINCBI36Build 36hg18NCBI36
Build 34288,695,522 - 88,766,221NCBI
Celera287,859,255 - 87,930,028 (+)NCBICelera
Cytogenetic Map2p11.2NCBI
HuRef287,778,073 - 87,848,926 (-)NCBIHuRef
CHM1_1288,785,816 - 88,856,644 (-)NCBICHM1_1
T2T-CHM13v2.0288,568,747 - 88,640,715 (-)NCBIT2T-CHM13v2.0
Eif2ak3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39670,821,468 - 70,882,225 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl670,821,499 - 70,882,229 (+)EnsemblGRCm39 Ensembl
GRCm38670,844,484 - 70,905,241 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl670,844,515 - 70,905,245 (+)EnsemblGRCm38mm10GRCm38
MGSCv37670,794,521 - 70,855,234 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36670,774,114 - 70,834,817 (+)NCBIMGSCv36mm8
Celera672,929,631 - 72,983,380 (+)NCBICelera
Cytogenetic Map6C1NCBI
cM Map632.09NCBI
Eif2ak3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84104,363,838 - 104,425,271 (+)NCBIGRCr8
mRatBN7.24102,805,495 - 102,866,914 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4102,805,510 - 102,866,911 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4108,196,337 - 108,257,766 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04103,971,422 - 104,032,857 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04102,575,411 - 102,636,807 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0498,648,513 - 98,709,695 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl498,648,545 - 98,709,694 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04163,428,182 - 163,488,914 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44104,016,940 - 104,078,261 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14104,261,420 - 104,322,741 (+)NCBI
Celera491,981,676 - 92,042,995 (+)NCBICelera
Cytogenetic Map4q32NCBI
Eif2ak3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955424226,038 - 280,593 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955424210,867 - 279,267 (+)NCBIChiLan1.0ChiLan1.0
EIF2AK3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21238,675,784 - 38,746,531 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A38,678,745 - 38,749,291 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A87,688,732 - 87,759,580 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A89,596,833 - 89,667,468 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A89,596,833 - 89,667,468 (-)Ensemblpanpan1.1panPan2
EIF2AK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11737,886,397 - 37,950,671 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1737,886,601 - 37,949,812 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1737,569,354 - 37,633,691 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01738,616,654 - 38,681,115 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1738,616,628 - 38,681,104 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11737,783,596 - 37,848,117 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01737,820,035 - 37,884,543 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01738,169,639 - 38,234,208 (+)NCBIUU_Cfam_GSD_1.0
Eif2ak3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629280,404,001 - 80,450,064 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936712414,446 - 454,449 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936712413,602 - 454,443 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EIF2AK3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl357,423,943 - 57,506,245 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1357,423,894 - 57,506,247 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2360,029,999 - 60,114,512 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EIF2AK3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11418,135,973 - 18,209,471 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1418,136,291 - 18,209,457 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660801,565,866 - 1,639,604 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eif2ak3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474915,869,569 - 15,950,757 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474915,867,444 - 15,950,757 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EIF2AK3
739 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter) duplication Wolcott-Rallison dysplasia [RCV000006232] Chr2:88590572..88590573 [GRCh38]
Chr2:88890090..88890091 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln) single nucleotide variant Wolcott-Rallison dysplasia [RCV000006233] Chr2:88583430 [GRCh38]
Chr2:88882948 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2985+1G>A single nucleotide variant Wolcott-Rallison dysplasia [RCV000006234] Chr2:88570873 [GRCh38]
Chr2:88870391 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) microsatellite Wolcott-Rallison dysplasia [RCV000006235] Chr2:88585918..88585921 [GRCh38]
Chr2:88885436..88885439 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV000006236] Chr2:88590826 [GRCh38]
Chr2:88890344 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.5(EIF2AK3):c.439-4988G>T single nucleotide variant Lung cancer [RCV000092535] Chr2:88600651 [GRCh38]
Chr2:88900169 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh38/hg38 2p11.2(chr2:87961218-88738661)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052125]|See cases [RCV000052125] Chr2:87961218..88738661 [GRCh38]
Chr2:88260737..89038178 [GRCh37]
Chr2:88041852..88819293 [NCBI36]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) single nucleotide variant Monogenic diabetes [RCV000664081]|Wolcott-Rallison dysplasia [RCV000364989]|not provided [RCV000419198]|not specified [RCV000116965] Chr2:88583437 [GRCh38]
Chr2:88882955 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.1763+6A>T single nucleotide variant Wolcott-Rallison dysplasia [RCV000307874]|not provided [RCV001523721]|not specified [RCV000116966] Chr2:88583424 [GRCh38]
Chr2:88882942 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) single nucleotide variant Wolcott-Rallison dysplasia [RCV000396340]|not provided [RCV001521773]|not specified [RCV000116967] Chr2:88579613 [GRCh38]
Chr2:88879131 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) single nucleotide variant Wolcott-Rallison dysplasia [RCV000374096]|not provided [RCV001521772]|not specified [RCV000116968] Chr2:88575373 [GRCh38]
Chr2:88874891 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) single nucleotide variant Wolcott-Rallison dysplasia [RCV000322169]|not provided [RCV001516846]|not specified [RCV000116969] Chr2:88613755 [GRCh38]
Chr2:88913273 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) single nucleotide variant Connective tissue disorder [RCV002277158]|Wolcott-Rallison dysplasia [RCV000283479]|not provided [RCV001521774]|not specified [RCV000116970] Chr2:88595605 [GRCh38]
Chr2:88895123 [GRCh37]
Chr2:2p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) single nucleotide variant Inborn genetic diseases [RCV002547480]|Wolcott-Rallison dysplasia [RCV002493793]|not provided [RCV001348553] Chr2:88590975 [GRCh38]
Chr2:88890493 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2255G>A (p.Ser752Asn) single nucleotide variant not provided [RCV002001517] Chr2:88575228 [GRCh38]
Chr2:88874746 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=) single nucleotide variant not provided [RCV000173358] Chr2:88627005 [GRCh38]
Chr2:88926523 [GRCh37]
Chr2:2p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) microsatellite Wolcott-Rallison dysplasia [RCV000344451]|not provided [RCV001521775]|not specified [RCV000173359] Chr2:88627212..88627214 [GRCh38]
Chr2:88926730..88926732 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) single nucleotide variant Connective tissue disorder [RCV002277335]|EIF2AK3-related condition [RCV003927584]|Monogenic diabetes [RCV000664082]|Wolcott-Rallison dysplasia [RCV000379170]|not provided [RCV000894632]|not specified [RCV000173360] Chr2:88627121 [GRCh38]
Chr2:88926639 [GRCh37]
Chr2:2p11.2		 benign|likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.2985+17T>C single nucleotide variant not provided [RCV002108882] Chr2:88570857 [GRCh38]
Chr2:88870375 [GRCh37]
Chr2:2p11.2		 likely benign
GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 copy number gain See cases [RCV000134786] Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2		 pathogenic
GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3 copy number gain See cases [RCV000135666] Chr2:87098178..91884275 [GRCh38]
Chr2:87325301..92072301 [GRCh37]
Chr2:87178812..91436028 [NCBI36]
Chr2:2p11.2-11.1		 uncertain significance
GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3 copy number gain See cases [RCV000137550] Chr2:87375475..90282666 [GRCh38]
Chr2:87602598..91619262 [GRCh37]
Chr2:87456109..90982989 [NCBI36]
Chr2:2p11.2		 uncertain significance
GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 copy number loss See cases [RCV000141948] Chr2:85014686..88826619 [GRCh38]
Chr2:85241809..89126132 [GRCh37]
Chr2:85095320..88907247 [NCBI36]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1165+10T>C single nucleotide variant Wolcott-Rallison dysplasia [RCV000261076] Chr2:88590433 [GRCh38]
Chr2:88889951 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs) deletion Wolcott-Rallison dysplasia [RCV000193530]|not provided [RCV002517071] Chr2:88585926..88585927 [GRCh38]
Chr2:88885444..88885445 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV000204196] Chr2:88588875 [GRCh38]
Chr2:88888393 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1650+1G>A single nucleotide variant not provided [RCV000513983] Chr2:88585840 [GRCh38]
Chr2:88885358 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) single nucleotide variant Inborn genetic diseases [RCV003258775]|Wolcott-Rallison dysplasia [RCV000278324]|not provided [RCV001850815] Chr2:88575246 [GRCh38]
Chr2:88874764 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.-17C>G single nucleotide variant Wolcott-Rallison dysplasia [RCV000284089] Chr2:88627291 [GRCh38]
Chr2:88926809 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) single nucleotide variant Wolcott-Rallison dysplasia [RCV000281735] Chr2:88575390 [GRCh38]
Chr2:88874908 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) single nucleotide variant Connective tissue disorder [RCV002278520]|Wolcott-Rallison dysplasia [RCV000274069]|not provided [RCV000906124]|not specified [RCV001821018] Chr2:88574951 [GRCh38]
Chr2:88874469 [GRCh37]
Chr2:2p11.2		 benign|likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) single nucleotide variant Wolcott-Rallison dysplasia [RCV000276166]|not provided [RCV001850817] Chr2:88588079 [GRCh38]
Chr2:88887597 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.*300TA[7] microsatellite Wolcott-Rallison dysplasia [RCV000267323] Chr2:88557424..88557425 [GRCh38]
Chr2:88856942..88856943 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*864ATGTTT[1] microsatellite Wolcott-Rallison dysplasia [RCV000299185] Chr2:88556861..88556866 [GRCh38]
Chr2:88856379..88856384 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1307-4T>G single nucleotide variant Wolcott-Rallison dysplasia [RCV000333538]|not provided [RCV001511341] Chr2:88588108 [GRCh38]
Chr2:88887626 [GRCh37]
Chr2:2p11.2		 benign|likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) single nucleotide variant Connective tissue disorder [RCV002278522]|Wolcott-Rallison dysplasia [RCV000353582]|not provided [RCV000914532] Chr2:88588894 [GRCh38]
Chr2:88888412 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) single nucleotide variant Connective tissue disorder [RCV002278523]|Inborn genetic diseases [RCV002523146]|Wolcott-Rallison dysplasia [RCV000375498]|not provided [RCV001861158] Chr2:88593320 [GRCh38]
Chr2:88892838 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr) single nucleotide variant Wolcott-Rallison dysplasia [RCV000335758] Chr2:88575348 [GRCh38]
Chr2:88874866 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.6(EIF2AK3):c.-201A>G single nucleotide variant Wolcott-Rallison dysplasia [RCV000354079]|not provided [RCV003422325]|not specified [RCV000501083] Chr2:88627475 [GRCh38]
Chr2:88926993 [GRCh37]
Chr2:2p11.2		 benign|uncertain significance
NM_004836.7(EIF2AK3):c.*363_*364del deletion Wolcott-Rallison dysplasia [RCV000302483] Chr2:88557372..88557373 [GRCh38]
Chr2:88856890..88856891 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*635G>A single nucleotide variant Wolcott-Rallison dysplasia [RCV000337727] Chr2:88557101 [GRCh38]
Chr2:88856619 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) single nucleotide variant Wolcott-Rallison dysplasia [RCV000402472]|not provided [RCV002057722] Chr2:88575410 [GRCh38]
Chr2:88874928 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV000303905]|not provided [RCV001303458]|not specified [RCV000499424] Chr2:88575419 [GRCh38]
Chr2:88874937 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser) single nucleotide variant Wolcott-Rallison dysplasia [RCV000339055]|not provided [RCV002519993] Chr2:88575391 [GRCh38]
Chr2:88874909 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*360C>T single nucleotide variant Wolcott-Rallison dysplasia [RCV000359602] Chr2:88557376 [GRCh38]
Chr2:88856894 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) single nucleotide variant EIF2AK3-related condition [RCV003910309]|Wolcott-Rallison dysplasia [RCV000342457]|not provided [RCV000432671] Chr2:88576576 [GRCh38]
Chr2:88876094 [GRCh37]
Chr2:2p11.2		 benign|likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) single nucleotide variant Wolcott-Rallison dysplasia [RCV000388427] Chr2:88574983 [GRCh38]
Chr2:88874501 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.-172C>T single nucleotide variant Wolcott-Rallison dysplasia [RCV000390640]|not provided [RCV001643034] Chr2:88627446 [GRCh38]
Chr2:88926964 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) single nucleotide variant Connective tissue disorder [RCV002278519]|Wolcott-Rallison dysplasia [RCV000327875]|not provided [RCV000890382]|not specified [RCV001821017] Chr2:88557796 [GRCh38]
Chr2:88857314 [GRCh37]
Chr2:2p11.2		 benign|likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) single nucleotide variant Wolcott-Rallison dysplasia [RCV000368240]|not provided [RCV001850816] Chr2:88585890 [GRCh38]
Chr2:88885408 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) single nucleotide variant Connective tissue disorder [RCV002278521]|EIF2AK3-related condition [RCV003922466]|Monogenic diabetes [RCV000664080]|Wolcott-Rallison dysplasia [RCV000311224]|not provided [RCV000423642]|not specified [RCV001821019] Chr2:88583496 [GRCh38]
Chr2:88883014 [GRCh37]
Chr2:2p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004836.6(EIF2AK3):c.-263T>C single nucleotide variant Wolcott-Rallison dysplasia [RCV000394788] Chr2:88627537 [GRCh38]
Chr2:88927055 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) single nucleotide variant Wolcott-Rallison dysplasia [RCV000331627]|not provided [RCV003114497] Chr2:88574976 [GRCh38]
Chr2:88874494 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) single nucleotide variant EIF2AK3-related condition [RCV003969971]|Wolcott-Rallison dysplasia [RCV000396368]|not provided [RCV001510917] Chr2:88583474 [GRCh38]
Chr2:88882992 [GRCh37]
Chr2:2p11.2		 benign|likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr) single nucleotide variant EIF2AK3-related condition [RCV003930095]|not provided [RCV000302079]|not specified [RCV001820817] Chr2:88627163 [GRCh38]
Chr2:88926681 [GRCh37]
Chr2:2p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004836.7(EIF2AK3):c.*175A>T single nucleotide variant Wolcott-Rallison dysplasia [RCV000270429] Chr2:88557561 [GRCh38]
Chr2:88857079 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) single nucleotide variant Wolcott-Rallison dysplasia [RCV002502135]|not provided [RCV000349841] Chr2:88595546 [GRCh38]
Chr2:88895064 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=) single nucleotide variant not provided [RCV000405802] Chr2:88593295 [GRCh38]
Chr2:88892813 [GRCh37]
Chr2:2p11.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004836.7(EIF2AK3):c.*271T>G single nucleotide variant Wolcott-Rallison dysplasia [RCV000362759] Chr2:88557465 [GRCh38]
Chr2:88856983 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*286G>C single nucleotide variant Wolcott-Rallison dysplasia [RCV000305753] Chr2:88557450 [GRCh38]
Chr2:88856968 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1092T>A (p.Asn364Lys) single nucleotide variant Wolcott-Rallison dysplasia [RCV000318510] Chr2:88590516 [GRCh38]
Chr2:88890034 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=) single nucleotide variant Wolcott-Rallison dysplasia [RCV000384936] Chr2:88574747 [GRCh38]
Chr2:88874265 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val) single nucleotide variant Inborn genetic diseases [RCV003362761]|Wolcott-Rallison dysplasia [RCV000403647]|not provided [RCV001865223] Chr2:88627262 [GRCh38]
Chr2:88926780 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*894AATC[1] microsatellite Wolcott-Rallison dysplasia [RCV000406162] Chr2:88556835..88556838 [GRCh38]
Chr2:88856353..88856356 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg) single nucleotide variant Inborn genetic diseases [RCV003298396]|Wolcott-Rallison dysplasia [RCV000287113] Chr2:88627207 [GRCh38]
Chr2:88926725 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.-162G>A single nucleotide variant Wolcott-Rallison dysplasia [RCV000339097] Chr2:88627436 [GRCh38]
Chr2:88926954 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.6(EIF2AK3):c.-195G>T single nucleotide variant Wolcott-Rallison dysplasia [RCV000299320] Chr2:88627469 [GRCh38]
Chr2:88926987 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.6(EIF2AK3):c.*1007C>G single nucleotide variant Wolcott-Rallison dysplasia [RCV000280792] Chr2:88556729 [GRCh38]
Chr2:88856247 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.*459G>T single nucleotide variant Wolcott-Rallison dysplasia [RCV000396016] Chr2:88557277 [GRCh38]
Chr2:88856795 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.310T>C (p.Ser104Pro) single nucleotide variant not provided [RCV000593171] Chr2:88613852 [GRCh38]
Chr2:88913370 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) single nucleotide variant Wolcott-Rallison dysplasia [RCV002476341]|not provided [RCV000591252] Chr2:88575379 [GRCh38]
Chr2:88874897 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) single nucleotide variant not provided [RCV000594800]|not specified [RCV001821716] Chr2:88557934 [GRCh38]
Chr2:88857452 [GRCh37]
Chr2:2p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004836.7(EIF2AK3):c.1549CTT[1] (p.Leu519del) microsatellite not provided [RCV000722900] Chr2:88585937..88585939 [GRCh38]
Chr2:88885455..88885457 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p11.2(chr2:88046608-89126291)x1 copy number loss See cases [RCV000446161] Chr2:88046608..89126291 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) single nucleotide variant Connective tissue disorder [RCV002279228]|Monogenic diabetes [RCV000445365]|Wolcott-Rallison dysplasia [RCV000764448]|not provided [RCV001339493] Chr2:88583442 [GRCh38]
Chr2:88882960 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly) single nucleotide variant Monogenic diabetes [RCV000445410] Chr2:88595662 [GRCh38]
Chr2:88895180 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p11.2(chr2:88180842-89126291)x1 copy number loss See cases [RCV000445830] Chr2:88180842..89126291 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV000503236] Chr2:88574725 [GRCh38]
Chr2:88874243 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val) single nucleotide variant Wolcott-Rallison dysplasia [RCV002496946]|not specified [RCV000501577] Chr2:88570936 [GRCh38]
Chr2:88870454 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) single nucleotide variant EIF2AK3-related condition [RCV003960161]|Monogenic diabetes [RCV001174434]|Wolcott-Rallison dysplasia [RCV001142644]|not provided [RCV001857094]|not specified [RCV000504087] Chr2:88590892 [GRCh38]
Chr2:88890410 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3114A>T (p.Lys1038Asn) single nucleotide variant not specified [RCV000502635] Chr2:88558953 [GRCh38]
Chr2:88858471 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p11.2(chr2:88046608-89129064)x1 copy number loss See cases [RCV000511750] Chr2:88046608..89129064 [GRCh37]
Chr2:2p11.2		 conflicting data from submitters
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2052C>G (p.Leu684=) single nucleotide variant not provided [RCV000597843] Chr2:88575431 [GRCh38]
Chr2:88874949 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) single nucleotide variant Wolcott-Rallison dysplasia [RCV000625664]|not provided [RCV001855320] Chr2:88595599 [GRCh38]
Chr2:88895117 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.16A>C (p.Ser6Arg) single nucleotide variant Inborn genetic diseases [RCV003275667] Chr2:88627259 [GRCh38]
Chr2:88926777 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.17G>A (p.Ser6Asn) single nucleotide variant Inborn genetic diseases [RCV003275668] Chr2:88627258 [GRCh38]
Chr2:88926776 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004836.7(EIF2AK3):c.3150+69G>A single nucleotide variant not provided [RCV001690941] Chr2:88558848 [GRCh38]
Chr2:88858366 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.767+248G>A single nucleotide variant not provided [RCV001645133] Chr2:88593024 [GRCh38]
Chr2:88892542 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.633+258_633+262del deletion not provided [RCV001648835] Chr2:88595207..88595211 [GRCh38]
Chr2:88894725..88894729 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.1003-6G>T single nucleotide variant not provided [RCV000949886] Chr2:88590611 [GRCh38]
Chr2:88890129 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His) single nucleotide variant EIF2AK3-related condition [RCV003977928]|Wolcott-Rallison dysplasia [RCV002505321]|not provided [RCV000906073] Chr2:88575197 [GRCh38]
Chr2:88874715 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1611G>A (p.Thr537=) single nucleotide variant EIF2AK3-related condition [RCV003940826]|not provided [RCV000899113] Chr2:88585880 [GRCh38]
Chr2:88885398 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) single nucleotide variant Connective tissue disorder [RCV002279622]|EIF2AK3-related condition [RCV003922983]|Wolcott-Rallison dysplasia [RCV001140795]|not provided [RCV000901896] Chr2:88588803 [GRCh38]
Chr2:88888321 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) single nucleotide variant Wolcott-Rallison dysplasia [RCV001137908]|not provided [RCV000968986] Chr2:88627206 [GRCh38]
Chr2:88926724 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.87C>T (p.Ala29=) single nucleotide variant not provided [RCV000905189] Chr2:88627188 [GRCh38]
Chr2:88926706 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.744C>A (p.Val248=) single nucleotide variant not provided [RCV000896795] Chr2:88593295 [GRCh38]
Chr2:88892813 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.597T>A (p.Ser199=) single nucleotide variant not provided [RCV000893731] Chr2:88595505 [GRCh38]
Chr2:88895023 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3337T>C (p.Leu1113=) single nucleotide variant not provided [RCV000937212] Chr2:88557750 [GRCh38]
Chr2:88857268 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His) single nucleotide variant Wolcott-Rallison dysplasia [RCV001137907] Chr2:88627174 [GRCh38]
Chr2:88926692 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV000995765]|not provided [RCV002549918] Chr2:88574776 [GRCh38]
Chr2:88874294 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.*408T>G single nucleotide variant Wolcott-Rallison dysplasia [RCV001140676] Chr2:88557328 [GRCh38]
Chr2:88856846 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile) single nucleotide variant Wolcott-Rallison dysplasia [RCV001137906]|not provided [RCV001856761] Chr2:88627063 [GRCh38]
Chr2:88926581 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1060A>C (p.Ser354Arg) single nucleotide variant Inborn genetic diseases [RCV003250284] Chr2:88590548 [GRCh38]
Chr2:88890066 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1887-298dup duplication not provided [RCV001537388] Chr2:88576987..88576988 [GRCh38]
Chr2:88876505..88876506 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.2818-73T>A single nucleotide variant not provided [RCV001639469] Chr2:88571114 [GRCh38]
Chr2:88870632 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.3087+50A>C single nucleotide variant not provided [RCV001691276] Chr2:88562239 [GRCh38]
Chr2:88861757 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.308+137C>G single nucleotide variant not provided [RCV001530623] Chr2:88626830 [GRCh38]
Chr2:88926348 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.54G>A (p.Leu18=) single nucleotide variant not provided [RCV000908043] Chr2:88627221 [GRCh38]
Chr2:88926739 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2557T>C (p.Leu853=) single nucleotide variant not provided [RCV000977397] Chr2:88574926 [GRCh38]
Chr2:88874444 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.705C>T (p.Ile235=) single nucleotide variant not provided [RCV000888453] Chr2:88593334 [GRCh38]
Chr2:88892852 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp) single nucleotide variant Wolcott-Rallison dysplasia [RCV002495532]|not provided [RCV000918179] Chr2:88590914 [GRCh38]
Chr2:88890432 [GRCh37]
Chr2:2p11.2		 benign|likely benign
NM_004836.7(EIF2AK3):c.*712C>T single nucleotide variant Wolcott-Rallison dysplasia [RCV001140675] Chr2:88557024 [GRCh38]
Chr2:88856542 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.833T>A (p.Phe278Tyr) single nucleotide variant Monogenic diabetes [RCV001174435] Chr2:88590987 [GRCh38]
Chr2:88890505 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys) single nucleotide variant Wolcott-Rallison dysplasia [RCV001142646] Chr2:88593302 [GRCh38]
Chr2:88892820 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) single nucleotide variant Wolcott-Rallison dysplasia [RCV001140792]|not provided [RCV000890028] Chr2:88585952 [GRCh38]
Chr2:88885470 [GRCh37]
Chr2:2p11.2		 benign|likely benign
GRCh37/hg19 2p11.2(chr2:88403403-89129064)x3 copy number gain not provided [RCV001005293] Chr2:88403403..89129064 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs) deletion Wolcott-Rallison dysplasia [RCV001536019] Chr2:88576632..88576654 [GRCh38]
Chr2:88876150..88876172 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1650+282C>T single nucleotide variant not provided [RCV001614248] Chr2:88585559 [GRCh38]
Chr2:88885077 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.633+262del deletion not provided [RCV001694446] Chr2:88595207 [GRCh38]
Chr2:88894725 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.3088-147_3088-146del microsatellite not provided [RCV001617988] Chr2:88559125..88559126 [GRCh38]
Chr2:88858643..88858644 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.*99C>T single nucleotide variant Wolcott-Rallison dysplasia [RCV001142554] Chr2:88557637 [GRCh38]
Chr2:88857155 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys) single nucleotide variant Wolcott-Rallison dysplasia [RCV001142555] Chr2:88557865 [GRCh38]
Chr2:88857383 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr) single nucleotide variant Wolcott-Rallison dysplasia [RCV001142556]|not provided [RCV003708576] Chr2:88570924 [GRCh38]
Chr2:88870442 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) single nucleotide variant Wolcott-Rallison dysplasia [RCV001142645]|not provided [RCV003769681] Chr2:88591034 [GRCh38]
Chr2:88890552 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV003353190]|Monogenic diabetes [RCV001174437]|Wolcott-Rallison dysplasia [RCV002505754]|not provided [RCV001873639] Chr2:88627126 [GRCh38]
Chr2:88926644 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) single nucleotide variant Monogenic diabetes [RCV001174436]|Wolcott-Rallison dysplasia [RCV001137905]|not provided [RCV001417472] Chr2:88627039 [GRCh38]
Chr2:88926557 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) single nucleotide variant Wolcott-Rallison dysplasia [RCV001140037]|not provided [RCV001412013] Chr2:88576643 [GRCh38]
Chr2:88876161 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV001140038] Chr2:88583467 [GRCh38]
Chr2:88882985 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV001140157]|not provided [RCV002556982] Chr2:88627222 [GRCh38]
Chr2:88926740 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.-10C>T single nucleotide variant Wolcott-Rallison dysplasia [RCV001140158] Chr2:88627284 [GRCh38]
Chr2:88926802 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) single nucleotide variant Wolcott-Rallison dysplasia [RCV001140793]|not provided [RCV001326864] Chr2:88585987 [GRCh38]
Chr2:88885505 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1430-23del deletion not provided [RCV001680673] Chr2:88586084 [GRCh38]
Chr2:88885602 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.*104A>C single nucleotide variant Wolcott-Rallison dysplasia [RCV001142553] Chr2:88557632 [GRCh38]
Chr2:88857150 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV001142557] Chr2:88574682 [GRCh38]
Chr2:88874200 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu) single nucleotide variant Wolcott-Rallison dysplasia [RCV001137797]|not provided [RCV001348253] Chr2:88575016 [GRCh38]
Chr2:88874534 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*340A>G single nucleotide variant Wolcott-Rallison dysplasia [RCV001140678] Chr2:88557396 [GRCh38]
Chr2:88856914 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) single nucleotide variant Wolcott-Rallison dysplasia [RCV001140794]|not provided [RCV001858920] Chr2:88588101 [GRCh38]
Chr2:88887619 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.*356A>G single nucleotide variant Wolcott-Rallison dysplasia [RCV001140677] Chr2:88557380 [GRCh38]
Chr2:88856898 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004836.7(EIF2AK3):c.681C>T (p.Asp227=) single nucleotide variant not provided [RCV001311204] Chr2:88593358 [GRCh38]
Chr2:88892876 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys) single nucleotide variant Wolcott-Rallison dysplasia [RCV001530189] Chr2:88593398 [GRCh38]
Chr2:88892916 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1369G>T (p.Asp457Tyr) single nucleotide variant not provided [RCV001338039] Chr2:88588042 [GRCh38]
Chr2:88887560 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) single nucleotide variant Wolcott-Rallison dysplasia [RCV002486354]|not provided [RCV001338593] Chr2:88579521 [GRCh38]
Chr2:88879039 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.122C>G (p.Ala41Gly) single nucleotide variant not provided [RCV001327447] Chr2:88627153 [GRCh38]
Chr2:88926671 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.821C>T (p.Thr274Met) single nucleotide variant not provided [RCV001308350] Chr2:88590999 [GRCh38]
Chr2:88890517 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.502C>T (p.Arg168Cys) single nucleotide variant not provided [RCV001319399] Chr2:88595600 [GRCh38]
Chr2:88895118 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) deletion Wolcott-Rallison dysplasia [RCV001283831] Chr2:88585953 [GRCh38]
Chr2:88885471 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2334C>T (p.Gly778=) single nucleotide variant not provided [RCV001352508] Chr2:88575149 [GRCh38]
Chr2:88874667 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.3330T>A (p.His1110Gln) single nucleotide variant not provided [RCV001297358] Chr2:88557757 [GRCh38]
Chr2:88857275 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.40CTG[10] (p.Leu20_Leu21dup) microsatellite Connective tissue disorder [RCV002276715]|not provided [RCV001371487] Chr2:88627211..88627212 [GRCh38]
Chr2:88926729..88926730 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.266G>C (p.Gly89Ala) single nucleotide variant not provided [RCV001361897] Chr2:88627009 [GRCh38]
Chr2:88926527 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2483A>T (p.His828Leu) single nucleotide variant not provided [RCV001371917] Chr2:88575000 [GRCh38]
Chr2:88874518 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.394G>A (p.Val132Met) single nucleotide variant EIF2AK3-related condition [RCV003945976]|not provided [RCV001296860] Chr2:88613768 [GRCh38]
Chr2:88913286 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1139G>A (p.Gly380Glu) single nucleotide variant not provided [RCV001361091] Chr2:88590469 [GRCh38]
Chr2:88889987 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2134A>G (p.Ile712Val) single nucleotide variant not provided [RCV001345768] Chr2:88575349 [GRCh38]
Chr2:88874867 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2457AGA[1] (p.Glu821del) microsatellite not provided [RCV001320118] Chr2:88575021..88575023 [GRCh38]
Chr2:88874539..88874541 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) single nucleotide variant Wolcott-Rallison dysplasia [RCV002499560]|not provided [RCV001301631] Chr2:88590963 [GRCh38]
Chr2:88890481 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1178G>A (p.Gly393Asp) single nucleotide variant not provided [RCV001343812] Chr2:88588889 [GRCh38]
Chr2:88888407 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) single nucleotide variant Wolcott-Rallison dysplasia [RCV002493655]|not provided [RCV001316623] Chr2:88588802 [GRCh38]
Chr2:88888320 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val) single nucleotide variant Inborn genetic diseases [RCV002538438]|Wolcott-Rallison dysplasia [RCV002504428]|not provided [RCV001294549] Chr2:88575168 [GRCh38]
Chr2:88874686 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.716A>G (p.Gln239Arg) single nucleotide variant not provided [RCV001374042] Chr2:88593323 [GRCh38]
Chr2:88892841 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.633+3A>G single nucleotide variant not provided [RCV001351381] Chr2:88595466 [GRCh38]
Chr2:88894984 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile) single nucleotide variant Wolcott-Rallison dysplasia [RCV001329322] Chr2:88590523 [GRCh38]
Chr2:88890041 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1764-2A>G single nucleotide variant Wolcott-Rallison dysplasia [RCV001329323] Chr2:88579642 [GRCh38]
Chr2:88879160 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser) single nucleotide variant Wolcott-Rallison dysplasia [RCV001329324] Chr2:88558972 [GRCh38]
Chr2:88858490 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) single nucleotide variant Wolcott-Rallison dysplasia [RCV002504437]|not provided [RCV001296864] Chr2:88588041 [GRCh38]
Chr2:88887559 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1516T>C (p.Tyr506His) single nucleotide variant not provided [RCV001359052] Chr2:88585975 [GRCh38]
Chr2:88885493 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1650+7A>G single nucleotide variant not provided [RCV001483642] Chr2:88585834 [GRCh38]
Chr2:88885352 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.252G>A (p.Glu84=) single nucleotide variant not provided [RCV001446004] Chr2:88627023 [GRCh38]
Chr2:88926541 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-170A>G single nucleotide variant not provided [RCV001696238]|not specified [RCV001529554] Chr2:88595833 [GRCh38]
Chr2:88895351 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs) deletion Wolcott-Rallison dysplasia [RCV001530190] Chr2:88627263 [GRCh38]
Chr2:88926781 [GRCh37]
Chr2:2p11.2		 pathogenic
GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1 copy number loss not provided [RCV001532445] Chr2:88007281..90260248 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002501570]|not provided [RCV001445926] Chr2:88595655 [GRCh38]
Chr2:88895173 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002495652]|not provided [RCV001457557] Chr2:88613760 [GRCh38]
Chr2:88913278 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1482A>G (p.Thr494=) single nucleotide variant not provided [RCV001454954] Chr2:88586009 [GRCh38]
Chr2:88885527 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.768-250T>A single nucleotide variant not provided [RCV001673714] Chr2:88591302 [GRCh38]
Chr2:88890820 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002501676]|not provided [RCV001487865] Chr2:88595661 [GRCh38]
Chr2:88895179 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002495574]|not provided [RCV001423654] Chr2:88595504 [GRCh38]
Chr2:88895022 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.52_55del (p.Leu18fs) deletion Wolcott-Rallison dysplasia [RCV001781028] Chr2:88627220..88627223 [GRCh38]
Chr2:88926738..88926741 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.265G>A (p.Gly89Ser) single nucleotide variant not specified [RCV001817236] Chr2:88627010 [GRCh38]
Chr2:88926528 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV002478052]|not specified [RCV001817499] Chr2:88575000 [GRCh38]
Chr2:88874518 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.6(EIF2AK3):c.-612_-597dup duplication not specified [RCV001822180] Chr2:88627870..88627871 [GRCh38]
Chr2:88927388..88927389 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.2045G>A (p.Trp682Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV001805753]|not provided [RCV001822014] Chr2:88575438 [GRCh38]
Chr2:88874956 [GRCh37]
Chr2:2p11.2		 pathogenic|likely pathogenic
GRCh37/hg19 2p11.2(chr2:88180842-89126291) copy number loss not specified [RCV002053194] Chr2:88180842..89126291 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn) single nucleotide variant Wolcott-Rallison dysplasia [RCV002503455]|not provided [RCV001871171] Chr2:88557800 [GRCh38]
Chr2:88857318 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.438+5G>T single nucleotide variant not provided [RCV001988809] Chr2:88613719 [GRCh38]
Chr2:88913237 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2737G>A (p.Val913Met) single nucleotide variant not provided [RCV001987910] Chr2:88574746 [GRCh38]
Chr2:88874264 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2147C>T (p.Pro716Leu) single nucleotide variant not provided [RCV001896905] Chr2:88575336 [GRCh38]
Chr2:88874854 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del) microsatellite Wolcott-Rallison dysplasia [RCV002484689]|not provided [RCV001948991] Chr2:88574936..88574938 [GRCh38]
Chr2:88874454..88874456 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.940G>A (p.Val314Ile) single nucleotide variant not provided [RCV002025084] Chr2:88590880 [GRCh38]
Chr2:88890398 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2071G>T (p.Asp691Tyr) single nucleotide variant not provided [RCV002043324] Chr2:88575412 [GRCh38]
Chr2:88874930 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1483C>A (p.Gln495Lys) single nucleotide variant not provided [RCV001929174] Chr2:88586008 [GRCh38]
Chr2:88885526 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys) single nucleotide variant Wolcott-Rallison dysplasia [RCV002484593]|not provided [RCV001929232] Chr2:88575391 [GRCh38]
Chr2:88874909 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3317C>T (p.Ser1106Phe) single nucleotide variant not provided [RCV002043572] Chr2:88557770 [GRCh38]
Chr2:88857288 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.928A>G (p.Ile310Val) single nucleotide variant not provided [RCV001872543] Chr2:88590892 [GRCh38]
Chr2:88890410 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p11.2(chr2:88046608-89126291) copy number loss not specified [RCV002053183] Chr2:88046608..89126291 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1543C>A (p.Pro515Thr) single nucleotide variant not provided [RCV001969120] Chr2:88585948 [GRCh38]
Chr2:88885466 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2531G>A (p.Ser844Asn) single nucleotide variant not provided [RCV001927250] Chr2:88574952 [GRCh38]
Chr2:88874470 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3247C>G (p.Pro1083Ala) single nucleotide variant not provided [RCV001966775] Chr2:88557840 [GRCh38]
Chr2:88857358 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1888G>A (p.Glu630Lys) single nucleotide variant not provided [RCV001967345] Chr2:88576702 [GRCh38]
Chr2:88876220 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.309-16T>G single nucleotide variant not provided [RCV001910912] Chr2:88613869 [GRCh38]
Chr2:88913387 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.3088-11_3088-9del deletion not provided [RCV001927079] Chr2:88558988..88558990 [GRCh38]
Chr2:88858506..88858508 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.421A>G (p.Ser141Gly) single nucleotide variant not provided [RCV002022938] Chr2:88613741 [GRCh38]
Chr2:88913259 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1841T>C (p.Val614Ala) single nucleotide variant not provided [RCV001968774] Chr2:88579563 [GRCh38]
Chr2:88879081 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2150A>G (p.Gln717Arg) single nucleotide variant not provided [RCV001967628] Chr2:88575333 [GRCh38]
Chr2:88874851 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr) single nucleotide variant Wolcott-Rallison dysplasia [RCV002486697]|not provided [RCV002020556] Chr2:88575321 [GRCh38]
Chr2:88874839 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) single nucleotide variant Wolcott-Rallison dysplasia [RCV002486706]|not provided [RCV002023359] Chr2:88590861 [GRCh38]
Chr2:88890379 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3154G>A (p.Val1052Met) single nucleotide variant not provided [RCV001946466] Chr2:88557933 [GRCh38]
Chr2:88857451 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1247C>A (p.Ser416Tyr) single nucleotide variant not provided [RCV001970344] Chr2:88588820 [GRCh38]
Chr2:88888338 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3121C>A (p.Pro1041Thr) single nucleotide variant not provided [RCV002042072] Chr2:88558946 [GRCh38]
Chr2:88858464 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) single nucleotide variant Inborn genetic diseases [RCV002551159]|Wolcott-Rallison dysplasia [RCV002486751]|not provided [RCV002021802] Chr2:88595572 [GRCh38]
Chr2:88895090 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1946C>T (p.Pro649Leu) single nucleotide variant Inborn genetic diseases [RCV002569155]|not provided [RCV001965545] Chr2:88576644 [GRCh38]
Chr2:88876162 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) single nucleotide variant Wolcott-Rallison dysplasia [RCV002478169]|not provided [RCV001894550] Chr2:88579531 [GRCh38]
Chr2:88879049 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2318A>C (p.Asp773Ala) single nucleotide variant not provided [RCV001964174] Chr2:88575165 [GRCh38]
Chr2:88874683 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.70G>C (p.Ala24Pro) single nucleotide variant not provided [RCV001964757] Chr2:88627205 [GRCh38]
Chr2:88926723 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3088-19A>G single nucleotide variant not provided [RCV001966102] Chr2:88558998 [GRCh38]
Chr2:88858516 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.562T>G (p.Phe188Val) single nucleotide variant not provided [RCV001870940] Chr2:88595540 [GRCh38]
Chr2:88895058 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002490094]|not provided [RCV001890000] Chr2:88627212 [GRCh38]
Chr2:88926730 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1507A>G (p.Asn503Asp) single nucleotide variant not provided [RCV001995181] Chr2:88585984 [GRCh38]
Chr2:88885502 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2636C>G (p.Ser879Ter) single nucleotide variant not provided [RCV001941816] Chr2:88574847 [GRCh38]
Chr2:88874365 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) single nucleotide variant Wolcott-Rallison dysplasia [RCV002507622]|not provided [RCV001944022] Chr2:88585915 [GRCh38]
Chr2:88885433 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.170C>T (p.Thr57Met) single nucleotide variant not provided [RCV001920460] Chr2:88627105 [GRCh38]
Chr2:88926623 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) duplication Wolcott-Rallison dysplasia [RCV002482786]|not provided [RCV001935130] Chr2:88562324..88562325 [GRCh38]
Chr2:88861842..88861843 [GRCh37]
Chr2:2p11.2		 pathogenic|likely pathogenic
NM_004836.7(EIF2AK3):c.269C>G (p.Pro90Arg) single nucleotide variant not provided [RCV001903434] Chr2:88627006 [GRCh38]
Chr2:88926524 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.128C>A (p.Ala43Glu) single nucleotide variant not provided [RCV002000837] Chr2:88627147 [GRCh38]
Chr2:88926665 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1037A>G (p.Lys346Arg) single nucleotide variant EIF2AK3-related condition [RCV003948823]|not provided [RCV001924055] Chr2:88590571 [GRCh38]
Chr2:88890089 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2182T>C (p.Cys728Arg) single nucleotide variant not provided [RCV002037176] Chr2:88575301 [GRCh38]
Chr2:88874819 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.223G>A (p.Ala75Thr) single nucleotide variant not provided [RCV001961974] Chr2:88627052 [GRCh38]
Chr2:88926570 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV002478307]|not provided [RCV001918042] Chr2:88574773 [GRCh38]
Chr2:88874291 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys) single nucleotide variant Inborn genetic diseases [RCV002569198]|Wolcott-Rallison dysplasia [RCV002492151]|not provided [RCV001961020] Chr2:88575324 [GRCh38]
Chr2:88874842 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.871G>A (p.Glu291Lys) single nucleotide variant not provided [RCV001867508] Chr2:88590949 [GRCh38]
Chr2:88890467 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) single nucleotide variant Wolcott-Rallison dysplasia [RCV002478148]|not provided [RCV001937299] Chr2:88590907 [GRCh38]
Chr2:88890425 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2120A>G (p.Glu707Gly) single nucleotide variant not provided [RCV001998459] Chr2:88575363 [GRCh38]
Chr2:88874881 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1873C>T (p.Arg625Cys) single nucleotide variant not provided [RCV001980837] Chr2:88579531 [GRCh38]
Chr2:88879049 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2341G>C (p.Glu781Gln) single nucleotide variant not provided [RCV001979323] Chr2:88575142 [GRCh38]
Chr2:88874660 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.575T>A (p.Val192Asp) single nucleotide variant not provided [RCV001999524] Chr2:88595527 [GRCh38]
Chr2:88895045 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.495_498del (p.Asp165fs) deletion not provided [RCV002000097] Chr2:88595604..88595607 [GRCh38]
Chr2:88895122..88895125 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2362T>G (p.Cys788Gly) single nucleotide variant not provided [RCV002028955] Chr2:88575121 [GRCh38]
Chr2:88874639 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1423C>A (p.Pro475Thr) single nucleotide variant not provided [RCV002036935] Chr2:88587988 [GRCh38]
Chr2:88887506 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.245C>T (p.Ala82Val) single nucleotide variant not provided [RCV001934791] Chr2:88627030 [GRCh38]
Chr2:88926548 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.830G>A (p.Gly277Glu) single nucleotide variant not provided [RCV001937682] Chr2:88590990 [GRCh38]
Chr2:88890508 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2211G>T (p.Gln737His) single nucleotide variant not provided [RCV001877759] Chr2:88575272 [GRCh38]
Chr2:88874790 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3275C>T (p.Ser1092Phe) single nucleotide variant not provided [RCV001876532] Chr2:88557812 [GRCh38]
Chr2:88857330 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2985+6T>C single nucleotide variant not provided [RCV001877869] Chr2:88570868 [GRCh38]
Chr2:88870386 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3318dup (p.Asn1107fs) duplication not provided [RCV001900800] Chr2:88557768..88557769 [GRCh38]
Chr2:88857286..88857287 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.604A>G (p.Thr202Ala) single nucleotide variant not provided [RCV002010895] Chr2:88595498 [GRCh38]
Chr2:88895016 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) single nucleotide variant Wolcott-Rallison dysplasia [RCV002506869]|not provided [RCV002049974] Chr2:88590487 [GRCh38]
Chr2:88890005 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2284C>G (p.Gln762Glu) single nucleotide variant not provided [RCV002010916] Chr2:88575199 [GRCh38]
Chr2:88874717 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.25C>A (p.Leu9Met) single nucleotide variant not provided [RCV002047381] Chr2:88627250 [GRCh38]
Chr2:88926768 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.673G>C (p.Asp225His) single nucleotide variant not provided [RCV001898526] Chr2:88593366 [GRCh38]
Chr2:88892884 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1166-11G>A single nucleotide variant not provided [RCV002027604] Chr2:88588912 [GRCh38]
Chr2:88888430 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2790T>A (p.Ser930Arg) single nucleotide variant not provided [RCV001878109] Chr2:88574693 [GRCh38]
Chr2:88874211 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2978C>T (p.Pro993Leu) single nucleotide variant not provided [RCV001931891] Chr2:88570881 [GRCh38]
Chr2:88870399 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.247G>A (p.Gly83Arg) single nucleotide variant not provided [RCV001877041] Chr2:88627028 [GRCh38]
Chr2:88926546 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.496C>T (p.Gln166Ter) single nucleotide variant not provided [RCV001956236] Chr2:88595606 [GRCh38]
Chr2:88895124 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) single nucleotide variant Wolcott-Rallison dysplasia [RCV002492299]|not provided [RCV001991968] Chr2:88586010 [GRCh38]
Chr2:88885528 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1511C>T (p.Pro504Leu) single nucleotide variant not provided [RCV002014913] Chr2:88585980 [GRCh38]
Chr2:88885498 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1097A>T (p.Asp366Val) single nucleotide variant not provided [RCV001973782] Chr2:88590511 [GRCh38]
Chr2:88890029 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1033C>G (p.Leu345Val) single nucleotide variant not provided [RCV001867021] Chr2:88590575 [GRCh38]
Chr2:88890093 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.265G>C (p.Gly89Arg) single nucleotide variant not provided [RCV001877336] Chr2:88627010 [GRCh38]
Chr2:88926528 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2620A>G (p.Lys874Glu) single nucleotide variant not provided [RCV001960239] Chr2:88574863 [GRCh38]
Chr2:88874381 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2477G>A (p.Arg826Gln) single nucleotide variant not provided [RCV001906309] Chr2:88575006 [GRCh38]
Chr2:88874524 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2465C>T (p.Pro822Leu) single nucleotide variant not provided [RCV001932420] Chr2:88575018 [GRCh38]
Chr2:88874536 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1002+5C>T single nucleotide variant not provided [RCV001978591] Chr2:88590813 [GRCh38]
Chr2:88890331 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1653A>G (p.Gln551=) single nucleotide variant not provided [RCV002034933] Chr2:88583540 [GRCh38]
Chr2:88883058 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) microsatellite Wolcott-Rallison dysplasia [RCV002486606]|not provided [RCV002019393] Chr2:88590509..88590511 [GRCh38]
Chr2:88890027..88890029 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2987T>C (p.Ile996Thr) single nucleotide variant not provided [RCV001876306] Chr2:88562389 [GRCh38]
Chr2:88861907 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.40CTG[9] (p.Leu21dup) microsatellite not provided [RCV002049585] Chr2:88627211..88627212 [GRCh38]
Chr2:88926729..88926730 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.20C>G (p.Pro7Arg) single nucleotide variant not provided [RCV001883898] Chr2:88627255 [GRCh38]
Chr2:88926773 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.69C>A (p.Leu23=) single nucleotide variant not provided [RCV001994053] Chr2:88627206 [GRCh38]
Chr2:88926724 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1076C>G (p.Thr359Arg) single nucleotide variant not provided [RCV002031953] Chr2:88590532 [GRCh38]
Chr2:88890050 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2018T>C (p.Ile673Thr) single nucleotide variant not provided [RCV001940396] Chr2:88576572 [GRCh38]
Chr2:88876090 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2633G>C (p.Ser878Thr) single nucleotide variant not provided [RCV001977024] Chr2:88574850 [GRCh38]
Chr2:88874368 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1754A>C (p.Tyr585Ser) single nucleotide variant not provided [RCV001977079] Chr2:88583439 [GRCh38]
Chr2:88882957 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) single nucleotide variant Wolcott-Rallison dysplasia [RCV002484729]|not provided [RCV001960486] Chr2:88576699 [GRCh38]
Chr2:88876217 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser) single nucleotide variant Wolcott-Rallison dysplasia [RCV002484638]|not provided [RCV001981978] Chr2:88562389 [GRCh38]
Chr2:88861907 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3058C>T (p.Pro1020Ser) single nucleotide variant not provided [RCV001973487] Chr2:88562318 [GRCh38]
Chr2:88861836 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2904G>C (p.Glu968Asp) single nucleotide variant not provided [RCV001901185] Chr2:88570955 [GRCh38]
Chr2:88870473 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2370_2372del (p.Glu791del) deletion not provided [RCV001917468] Chr2:88575111..88575113 [GRCh38]
Chr2:88874629..88874631 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2909C>T (p.Thr970Met) single nucleotide variant not provided [RCV002018080] Chr2:88570950 [GRCh38]
Chr2:88870468 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) single nucleotide variant Wolcott-Rallison dysplasia [RCV002493986]|not provided [RCV002049143] Chr2:88627189 [GRCh38]
Chr2:88926707 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) single nucleotide variant Wolcott-Rallison dysplasia [RCV002490148]|not provided [RCV001882111] Chr2:88585869 [GRCh38]
Chr2:88885387 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2093G>T (p.Arg698Leu) single nucleotide variant not provided [RCV001904841] Chr2:88575390 [GRCh38]
Chr2:88874908 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1650+6A>C single nucleotide variant not provided [RCV001981047] Chr2:88585835 [GRCh38]
Chr2:88885353 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) single nucleotide variant Wolcott-Rallison dysplasia [RCV002479767]|not provided [RCV002018060] Chr2:88627172 [GRCh38]
Chr2:88926690 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) single nucleotide variant Wolcott-Rallison dysplasia [RCV002479400]|not provided [RCV001933040] Chr2:88588839 [GRCh38]
Chr2:88888357 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3104G>T (p.Arg1035Ile) single nucleotide variant not provided [RCV002028103] Chr2:88558963 [GRCh38]
Chr2:88858481 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1534A>T (p.Lys512Ter) single nucleotide variant not provided [RCV001992668] Chr2:88585957 [GRCh38]
Chr2:88885475 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2985+6T>A single nucleotide variant not provided [RCV001993578] Chr2:88570868 [GRCh38]
Chr2:88870386 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.40CTG[5] (p.Leu19_Leu21del) microsatellite not provided [RCV002012320] Chr2:88627212..88627220 [GRCh38]
Chr2:88926730..88926738 [GRCh37]
Chr2:2p11.2		 uncertain significance
NC_000002.11:g.(?_88857254)_(89049595_?)dup duplication not provided [RCV001920553] Chr2:88857254..89049595 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2069T>C (p.Met690Thr) single nucleotide variant not provided [RCV001956775] Chr2:88575414 [GRCh38]
Chr2:88874932 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3277C>T (p.Arg1093Cys) single nucleotide variant Inborn genetic diseases [RCV002554225]|not provided [RCV001919821] Chr2:88557810 [GRCh38]
Chr2:88857328 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.669A>G (p.Gln223=) single nucleotide variant not provided [RCV002032169] Chr2:88593370 [GRCh38]
Chr2:88892888 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) single nucleotide variant Wolcott-Rallison dysplasia [RCV002468381]|not provided [RCV002026597] Chr2:88613834 [GRCh38]
Chr2:88913352 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.718C>T (p.Arg240Cys) single nucleotide variant not provided [RCV002012761] Chr2:88593321 [GRCh38]
Chr2:88892839 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) single nucleotide variant Wolcott-Rallison dysplasia [RCV002490194]|not provided [RCV001932755] Chr2:88595591 [GRCh38]
Chr2:88895109 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1411A>G (p.Ile471Val) single nucleotide variant not provided [RCV001934538] Chr2:88588000 [GRCh38]
Chr2:88887518 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.210G>C (p.Val70=) single nucleotide variant not provided [RCV002208993] Chr2:88627065 [GRCh38]
Chr2:88926583 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.768-13T>C single nucleotide variant not provided [RCV002111340] Chr2:88591065 [GRCh38]
Chr2:88890583 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1695T>C (p.Tyr565=) single nucleotide variant not provided [RCV002147712] Chr2:88583498 [GRCh38]
Chr2:88883016 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+19G>C single nucleotide variant not provided [RCV002186496] Chr2:88626948 [GRCh38]
Chr2:88926466 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3151-11del deletion not provided [RCV002146088] Chr2:88557947 [GRCh38]
Chr2:88857465 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.1912C>A (p.Arg638=) single nucleotide variant not provided [RCV002126775] Chr2:88576678 [GRCh38]
Chr2:88876196 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002498184]|not provided [RCV002190262] Chr2:88595487 [GRCh38]
Chr2:88895005 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2466G>A (p.Pro822=) single nucleotide variant not provided [RCV002114055] Chr2:88575017 [GRCh38]
Chr2:88874535 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro) single nucleotide variant EIF2AK3-related condition [RCV003933535]|not provided [RCV002104328] Chr2:88627240 [GRCh38]
Chr2:88926758 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.2034A>G (p.Glu678=) single nucleotide variant not provided [RCV002211668] Chr2:88576556 [GRCh38]
Chr2:88876074 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.156T>G (p.Ala52=) single nucleotide variant not provided [RCV002174437] Chr2:88627119 [GRCh38]
Chr2:88926637 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1429+14C>A single nucleotide variant not provided [RCV002078608] Chr2:88587968 [GRCh38]
Chr2:88887486 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3151-13T>A single nucleotide variant not provided [RCV002132948] Chr2:88557949 [GRCh38]
Chr2:88857467 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002500093]|not provided [RCV002152627] Chr2:88627203 [GRCh38]
Chr2:88926721 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1763+12A>G single nucleotide variant not provided [RCV002107048] Chr2:88583418 [GRCh38]
Chr2:88882936 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.633+15T>C single nucleotide variant Wolcott-Rallison dysplasia [RCV002500081]|not provided [RCV002152119] Chr2:88595454 [GRCh38]
Chr2:88894972 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2511A>G (p.Leu837=) single nucleotide variant not provided [RCV002185608] Chr2:88574972 [GRCh38]
Chr2:88874490 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2036+11T>C single nucleotide variant not provided [RCV002171086] Chr2:88576543 [GRCh38]
Chr2:88876061 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.987G>A (p.Leu329=) single nucleotide variant not provided [RCV002097440] Chr2:88590833 [GRCh38]
Chr2:88890351 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2262A>T (p.Ser754=) single nucleotide variant not provided [RCV002135088] Chr2:88575221 [GRCh38]
Chr2:88874739 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.438+6_438+10dup duplication not provided [RCV002173574] Chr2:88613713..88613714 [GRCh38]
Chr2:88913231..88913232 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1430-8A>G single nucleotide variant not provided [RCV002126165] Chr2:88586069 [GRCh38]
Chr2:88885587 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.768-16C>A single nucleotide variant not provided [RCV002091555] Chr2:88591068 [GRCh38]
Chr2:88890586 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1773T>G (p.Thr591=) single nucleotide variant not provided [RCV002186525] Chr2:88579631 [GRCh38]
Chr2:88879149 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-18dup duplication not provided [RCV002076672] Chr2:88595680..88595681 [GRCh38]
Chr2:88895198..88895199 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.1165+20C>G single nucleotide variant not provided [RCV002114434] Chr2:88590423 [GRCh38]
Chr2:88889941 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3151-6T>C single nucleotide variant not provided [RCV002113648] Chr2:88557942 [GRCh38]
Chr2:88857460 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1306+7G>A single nucleotide variant not provided [RCV002212842] Chr2:88588754 [GRCh38]
Chr2:88888272 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2036+12T>C single nucleotide variant not provided [RCV002189231] Chr2:88576542 [GRCh38]
Chr2:88876060 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=) single nucleotide variant Wolcott-Rallison dysplasia [RCV002481004]|not provided [RCV002155723] Chr2:88586045 [GRCh38]
Chr2:88885563 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1770A>G (p.Leu590=) single nucleotide variant not provided [RCV002156153] Chr2:88579634 [GRCh38]
Chr2:88879152 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV003460019]|not provided [RCV003679213] Chr2:88575355 [GRCh38]
Chr2:88874873 [GRCh37]
Chr2:2p11.2		 pathogenic|likely pathogenic
NM_004836.7(EIF2AK3):c.9C>T (p.Arg3=) single nucleotide variant not provided [RCV002199073] Chr2:88627266 [GRCh38]
Chr2:88926784 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.168G>T (p.Ala56=) single nucleotide variant not provided [RCV002144436] Chr2:88627107 [GRCh38]
Chr2:88926625 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1430-14G>A single nucleotide variant not provided [RCV002137522] Chr2:88586075 [GRCh38]
Chr2:88885593 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1140A>G (p.Gly380=) single nucleotide variant not provided [RCV002179480] Chr2:88590468 [GRCh38]
Chr2:88889986 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1503C>T (p.Leu501=) single nucleotide variant not provided [RCV002102366] Chr2:88585988 [GRCh38]
Chr2:88885506 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2036+9C>T single nucleotide variant not provided [RCV002176266] Chr2:88576545 [GRCh38]
Chr2:88876063 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2985+20A>C single nucleotide variant not provided [RCV002217640] Chr2:88570854 [GRCh38]
Chr2:88870372 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-13G>C single nucleotide variant not provided [RCV002162578] Chr2:88595676 [GRCh38]
Chr2:88895194 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1503C>G (p.Leu501=) single nucleotide variant not provided [RCV002161453] Chr2:88585988 [GRCh38]
Chr2:88885506 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2817+20C>G single nucleotide variant not provided [RCV002176441] Chr2:88574646 [GRCh38]
Chr2:88874164 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1307-13A>G single nucleotide variant not provided [RCV002181560] Chr2:88588117 [GRCh38]
Chr2:88887635 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.219G>A (p.Glu73=) single nucleotide variant not provided [RCV002162388] Chr2:88627056 [GRCh38]
Chr2:88926574 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.822G>A (p.Thr274=) single nucleotide variant not provided [RCV002201313] Chr2:88590998 [GRCh38]
Chr2:88890516 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2985+14_2985+15del deletion not provided [RCV002199720] Chr2:88570859..88570860 [GRCh38]
Chr2:88870377..88870378 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2385T>C (p.Tyr795=) single nucleotide variant not provided [RCV002203272] Chr2:88575098 [GRCh38]
Chr2:88874616 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.558T>C (p.Tyr186=) single nucleotide variant not provided [RCV002137377] Chr2:88595544 [GRCh38]
Chr2:88895062 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2370T>C (p.Ser790=) single nucleotide variant not provided [RCV002203010] Chr2:88575113 [GRCh38]
Chr2:88874631 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2910G>A (p.Thr970=) single nucleotide variant not provided [RCV002142986] Chr2:88570949 [GRCh38]
Chr2:88870467 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.90G>C (p.Ala30=) single nucleotide variant not provided [RCV002179571] Chr2:88627185 [GRCh38]
Chr2:88926703 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-24_3088-12del deletion not provided [RCV002220961] Chr2:88558991..88559003 [GRCh38]
Chr2:88858509..88858521 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.1584G>A (p.Thr528=) single nucleotide variant not provided [RCV002217636] Chr2:88585907 [GRCh38]
Chr2:88885425 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-4T>A single nucleotide variant not provided [RCV002142040] Chr2:88576707 [GRCh38]
Chr2:88876225 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2036+11T>G single nucleotide variant not provided [RCV002161000] Chr2:88576543 [GRCh38]
Chr2:88876061 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.939G>A (p.Ser313=) single nucleotide variant not provided [RCV003116196] Chr2:88590881 [GRCh38]
Chr2:88890399 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.989A>C (p.Glu330Ala) single nucleotide variant not provided [RCV003112332] Chr2:88590831 [GRCh38]
Chr2:88890349 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3157A>G (p.Met1053Val) single nucleotide variant not provided [RCV003118761] Chr2:88557930 [GRCh38]
Chr2:88857448 [GRCh37]
Chr2:2p11.2		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_004836.7(EIF2AK3):c.1887-9C>G single nucleotide variant Connective tissue disorder [RCV002278719]|not provided [RCV003718471] Chr2:88576712 [GRCh38]
Chr2:88876230 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.1694_1695del (p.Lys564_Tyr565insTer) microsatellite not provided [RCV003236216] Chr2:88583498..88583499 [GRCh38]
Chr2:88883016..88883017 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1651-4T>C single nucleotide variant Connective tissue disorder [RCV002278718]|not provided [RCV003560920] Chr2:88583546 [GRCh38]
Chr2:88883064 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
GRCh37/hg19 2p11.2(chr2:88046609-89126291)x1 copy number loss not provided [RCV002473442] Chr2:88046609..89126291 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1764-20A>C single nucleotide variant not provided [RCV002614132] Chr2:88579660 [GRCh38]
Chr2:88879178 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.922A>G (p.Ile308Val) single nucleotide variant not provided [RCV002304924] Chr2:88590898 [GRCh38]
Chr2:88890416 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3208A>C (p.Asn1070His) single nucleotide variant not provided [RCV002303648] Chr2:88557879 [GRCh38]
Chr2:88857397 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3098A>G (p.Asp1033Gly) single nucleotide variant not provided [RCV002298290] Chr2:88558969 [GRCh38]
Chr2:88858487 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2710T>G (p.Cys904Gly) single nucleotide variant Inborn genetic diseases [RCV002859963] Chr2:88574773 [GRCh38]
Chr2:88874291 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.262del (p.Arg88fs) deletion not provided [RCV002861648] Chr2:88627013 [GRCh38]
Chr2:88926531 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1492G>A (p.Val498Ile) single nucleotide variant not provided [RCV002994428] Chr2:88585999 [GRCh38]
Chr2:88885517 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2110G>A (p.Ala704Thr) single nucleotide variant not provided [RCV002615163] Chr2:88575373 [GRCh38]
Chr2:88874891 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1621C>G (p.Arg541Gly) single nucleotide variant not provided [RCV002615682] Chr2:88585870 [GRCh38]
Chr2:88885388 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1095T>A (p.Asp365Glu) single nucleotide variant not provided [RCV002991783] Chr2:88590513 [GRCh38]
Chr2:88890031 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2154A>G (p.Arg718=) single nucleotide variant not provided [RCV002755129] Chr2:88575329 [GRCh38]
Chr2:88874847 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.272A>C (p.Glu91Ala) single nucleotide variant not provided [RCV002755867] Chr2:88627003 [GRCh38]
Chr2:88926521 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2814C>G (p.Leu938=) single nucleotide variant not provided [RCV002756433] Chr2:88574669 [GRCh38]
Chr2:88874187 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.403G>A (p.Gly135Ser) single nucleotide variant not provided [RCV002756434] Chr2:88613759 [GRCh38]
Chr2:88913277 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1657A>T (p.Lys553Ter) single nucleotide variant not provided [RCV002819399] Chr2:88583536 [GRCh38]
Chr2:88883054 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1697A>G (p.Asp566Gly) single nucleotide variant Inborn genetic diseases [RCV002613867]|not provided [RCV002613868] Chr2:88583496 [GRCh38]
Chr2:88883014 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1002+18G>A single nucleotide variant not provided [RCV002690512] Chr2:88590800 [GRCh38]
Chr2:88890318 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.438+1G>T single nucleotide variant not provided [RCV002908310] Chr2:88613723 [GRCh38]
Chr2:88913241 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.531A>G (p.Thr177=) single nucleotide variant not provided [RCV002615915] Chr2:88595571 [GRCh38]
Chr2:88895089 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3089C>T (p.Thr1030Ile) single nucleotide variant not provided [RCV002838750] Chr2:88558978 [GRCh38]
Chr2:88858496 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2766A>G (p.Ala922=) single nucleotide variant not provided [RCV002616547] Chr2:88574717 [GRCh38]
Chr2:88874235 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.962C>A (p.Ala321Glu) single nucleotide variant Inborn genetic diseases [RCV002613698]|not provided [RCV002613697] Chr2:88590858 [GRCh38]
Chr2:88890376 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1608A>C (p.Thr536=) single nucleotide variant not provided [RCV002815497] Chr2:88585883 [GRCh38]
Chr2:88885401 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.912C>T (p.Ala304=) single nucleotide variant not provided [RCV002617595] Chr2:88590908 [GRCh38]
Chr2:88890426 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1514A>G (p.His505Arg) single nucleotide variant not provided [RCV002995064] Chr2:88585977 [GRCh38]
Chr2:88885495 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.767+12G>C single nucleotide variant not provided [RCV003015216] Chr2:88593260 [GRCh38]
Chr2:88892778 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.501C>T (p.Asp167=) single nucleotide variant not provided [RCV003017278] Chr2:88595601 [GRCh38]
Chr2:88895119 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.438+12C>T single nucleotide variant not provided [RCV003013793] Chr2:88613712 [GRCh38]
Chr2:88913230 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.115_147del (p.Pro39_Ala49del) deletion not provided [RCV002908321] Chr2:88627128..88627160 [GRCh38]
Chr2:88926646..88926678 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.979G>C (p.Gly327Arg) single nucleotide variant not provided [RCV002947829] Chr2:88590841 [GRCh38]
Chr2:88890359 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1824del (p.Phe608fs) deletion not provided [RCV002881706] Chr2:88579580 [GRCh38]
Chr2:88879098 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2218C>T (p.Pro740Ser) single nucleotide variant not provided [RCV003016563] Chr2:88575265 [GRCh38]
Chr2:88874783 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1720G>C (p.Asp574His) single nucleotide variant not provided [RCV003016968] Chr2:88583473 [GRCh38]
Chr2:88882991 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2730G>A (p.Glu910=) single nucleotide variant not provided [RCV002613981] Chr2:88574753 [GRCh38]
Chr2:88874271 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1740A>T (p.Ile580=) single nucleotide variant not provided [RCV002927920] Chr2:88583453 [GRCh38]
Chr2:88882971 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.846C>G (p.Thr282=) single nucleotide variant not provided [RCV002623001] Chr2:88590974 [GRCh38]
Chr2:88890492 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1127A>C (p.Glu376Ala) single nucleotide variant not provided [RCV002797264] Chr2:88590481 [GRCh38]
Chr2:88889999 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2818-1G>C single nucleotide variant not provided [RCV002825267] Chr2:88571042 [GRCh38]
Chr2:88870560 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.682G>A (p.Glu228Lys) single nucleotide variant not provided [RCV002825437] Chr2:88593357 [GRCh38]
Chr2:88892875 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.945T>C (p.Ala315=) single nucleotide variant not provided [RCV002570918] Chr2:88590875 [GRCh38]
Chr2:88890393 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.364A>C (p.Asn122His) single nucleotide variant not provided [RCV002923335] Chr2:88613798 [GRCh38]
Chr2:88913316 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.642T>C (p.Tyr214=) single nucleotide variant not provided [RCV002889381] Chr2:88593397 [GRCh38]
Chr2:88892915 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.204C>T (p.Ala68=) single nucleotide variant not provided [RCV002825552] Chr2:88627071 [GRCh38]
Chr2:88926589 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2817+11G>A single nucleotide variant not provided [RCV002785696] Chr2:88574655 [GRCh38]
Chr2:88874173 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2534G>C (p.Ser845Thr) single nucleotide variant Inborn genetic diseases [RCV002708114] Chr2:88574949 [GRCh38]
Chr2:88874467 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.23G>A (p.Gly8Glu) single nucleotide variant not provided [RCV002695948] Chr2:88627252 [GRCh38]
Chr2:88926770 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1166-20C>G single nucleotide variant not provided [RCV002663077] Chr2:88588921 [GRCh38]
Chr2:88888439 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1583C>T (p.Thr528Met) single nucleotide variant EIF2AK3-related condition [RCV003898476]|not provided [RCV002640190] Chr2:88585908 [GRCh38]
Chr2:88885426 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2328G>A (p.Met776Ile) single nucleotide variant Inborn genetic diseases [RCV002707634] Chr2:88575155 [GRCh38]
Chr2:88874673 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1962T>C (p.Tyr654=) single nucleotide variant not provided [RCV002781052] Chr2:88576628 [GRCh38]
Chr2:88876146 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-20A>T single nucleotide variant not provided [RCV002591165] Chr2:88576723 [GRCh38]
Chr2:88876241 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.243C>T (p.Ala81=) single nucleotide variant not provided [RCV002691126] Chr2:88627032 [GRCh38]
Chr2:88926550 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.131C>T (p.Ala44Val) single nucleotide variant not provided [RCV002639046] Chr2:88627144 [GRCh38]
Chr2:88926662 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1182G>C (p.Gln394His) single nucleotide variant not provided [RCV002636818] Chr2:88588885 [GRCh38]
Chr2:88888403 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1999C>G (p.Gln667Glu) single nucleotide variant not provided [RCV002735950] Chr2:88576591 [GRCh38]
Chr2:88876109 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1546G>C (p.Val516Leu) single nucleotide variant not provided [RCV002590623] Chr2:88585945 [GRCh38]
Chr2:88885463 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.122C>T (p.Ala41Val) single nucleotide variant not provided [RCV002820156] Chr2:88627153 [GRCh38]
Chr2:88926671 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.311C>T (p.Ser104Leu) single nucleotide variant Inborn genetic diseases [RCV002758940]|not provided [RCV003679158] Chr2:88613851 [GRCh38]
Chr2:88913369 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3090C>T (p.Thr1030=) single nucleotide variant not provided [RCV002756824] Chr2:88558977 [GRCh38]
Chr2:88858495 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.245C>G (p.Ala82Gly) single nucleotide variant not provided [RCV002824296] Chr2:88627030 [GRCh38]
Chr2:88926548 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.829G>A (p.Gly277Arg) single nucleotide variant not provided [RCV002735092] Chr2:88590991 [GRCh38]
Chr2:88890509 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1770A>C (p.Leu590=) single nucleotide variant not provided [RCV003038753] Chr2:88579634 [GRCh38]
Chr2:88879152 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2575A>G (p.Arg859Gly) single nucleotide variant Inborn genetic diseases [RCV002822259] Chr2:88574908 [GRCh38]
Chr2:88874426 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.281A>T (p.Asp94Val) single nucleotide variant not provided [RCV003020318] Chr2:88626994 [GRCh38]
Chr2:88926512 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.938C>T (p.Ser313Leu) single nucleotide variant not provided [RCV002621088] Chr2:88590882 [GRCh38]
Chr2:88890400 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2985+11C>T single nucleotide variant not provided [RCV003018125] Chr2:88570863 [GRCh38]
Chr2:88870381 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2763C>T (p.Ile921=) single nucleotide variant not provided [RCV002569487] Chr2:88574720 [GRCh38]
Chr2:88874238 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1890A>G (p.Glu630=) single nucleotide variant not provided [RCV002976332] Chr2:88576700 [GRCh38]
Chr2:88876218 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV002911902] Chr2:88591020 [GRCh38]
Chr2:88890538 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2876T>C (p.Val959Ala) single nucleotide variant not provided [RCV002820942] Chr2:88570983 [GRCh38]
Chr2:88870501 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1247C>G (p.Ser416Cys) single nucleotide variant not provided [RCV002658616] Chr2:88588820 [GRCh38]
Chr2:88888338 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1649G>A (p.Arg550Lys) single nucleotide variant not provided [RCV002982154] Chr2:88585842 [GRCh38]
Chr2:88885360 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2311G>A (p.Val771Met) single nucleotide variant not provided [RCV002985682] Chr2:88575172 [GRCh38]
Chr2:88874690 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1764-17T>G single nucleotide variant not provided [RCV002876653] Chr2:88579657 [GRCh38]
Chr2:88879175 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-20A>G single nucleotide variant not provided [RCV003057600] Chr2:88595683 [GRCh38]
Chr2:88895201 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.231G>T (p.Ala77=) single nucleotide variant not provided [RCV002959051] Chr2:88627044 [GRCh38]
Chr2:88926562 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3087+3A>T single nucleotide variant not provided [RCV003007817] Chr2:88562286 [GRCh38]
Chr2:88861804 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3088-9del deletion not provided [RCV002766411] Chr2:88558988 [GRCh38]
Chr2:88858506 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.2043C>T (p.Asp681=) single nucleotide variant not provided [RCV002576082] Chr2:88575440 [GRCh38]
Chr2:88874958 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.496_497inv (p.Gln166Ter) inversion not provided [RCV002932073] Chr2:88595605..88595606 [GRCh38]
Chr2:88895123..88895124 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1156G>A (p.Val386Ile) single nucleotide variant not provided [RCV002765476] Chr2:88590452 [GRCh38]
Chr2:88889970 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1266A>G (p.Ala422=) single nucleotide variant not provided [RCV002890037] Chr2:88588801 [GRCh38]
Chr2:88888319 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1650+11T>C single nucleotide variant not provided [RCV002710535] Chr2:88585830 [GRCh38]
Chr2:88885348 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+13C>A single nucleotide variant not provided [RCV002572258] Chr2:88626954 [GRCh38]
Chr2:88926472 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV002710266] Chr2:88627078 [GRCh38]
Chr2:88926596 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3294G>A (p.Ser1098=) single nucleotide variant not provided [RCV002573798] Chr2:88557793 [GRCh38]
Chr2:88857311 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2452A>G (p.Ser818Gly) single nucleotide variant not provided [RCV002575068] Chr2:88575031 [GRCh38]
Chr2:88874549 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.308+13C>G single nucleotide variant not provided [RCV002875733] Chr2:88626954 [GRCh38]
Chr2:88926472 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1037A>C (p.Lys346Thr) single nucleotide variant not provided [RCV002593910] Chr2:88590571 [GRCh38]
Chr2:88890089 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp) single nucleotide variant Wolcott-Rallison dysplasia [RCV003479486]|not provided [RCV002664247] Chr2:88576693 [GRCh38]
Chr2:88876211 [GRCh37]
Chr2:2p11.2		 pathogenic|uncertain significance
NM_004836.7(EIF2AK3):c.1429+20T>C single nucleotide variant not provided [RCV002791162] Chr2:88587962 [GRCh38]
Chr2:88887480 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV003007843] Chr2:88626973 [GRCh38]
Chr2:88926491 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3115T>C (p.Phe1039Leu) single nucleotide variant not provided [RCV003031284] Chr2:88558952 [GRCh38]
Chr2:88858470 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1032A>C (p.Leu344Phe) single nucleotide variant Inborn genetic diseases [RCV002934419] Chr2:88590576 [GRCh38]
Chr2:88890094 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV002601792] Chr2:88627223 [GRCh38]
Chr2:88926741 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.752G>A (p.Arg251His) single nucleotide variant not provided [RCV002577234] Chr2:88593287 [GRCh38]
Chr2:88892805 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2781T>C (p.Phe927=) single nucleotide variant not provided [RCV002721152] Chr2:88574702 [GRCh38]
Chr2:88874220 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2126T>C (p.Ile709Thr) single nucleotide variant not provided [RCV002962307] Chr2:88575357 [GRCh38]
Chr2:88874875 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2751C>A (p.Ile917=) single nucleotide variant not provided [RCV002717016] Chr2:88574732 [GRCh38]
Chr2:88874250 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2754C>T (p.Phe918=) single nucleotide variant not provided [RCV002721219] Chr2:88574729 [GRCh38]
Chr2:88874247 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1134C>T (p.Ala378=) single nucleotide variant not provided [RCV002833219] Chr2:88590474 [GRCh38]
Chr2:88889992 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1711G>A (p.Glu571Lys) single nucleotide variant not provided [RCV002941982] Chr2:88583482 [GRCh38]
Chr2:88883000 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.157C>G (p.Pro53Ala) single nucleotide variant Inborn genetic diseases [RCV002832731] Chr2:88627118 [GRCh38]
Chr2:88926636 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1898G>A (p.Arg633Gln) single nucleotide variant not provided [RCV002720639] Chr2:88576692 [GRCh38]
Chr2:88876210 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1152C>T (p.Asn384=) single nucleotide variant not provided [RCV003047883] Chr2:88590456 [GRCh38]
Chr2:88889974 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.745G>A (p.Gly249Arg) single nucleotide variant not provided [RCV002720656] Chr2:88593294 [GRCh38]
Chr2:88892812 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2818-7T>C single nucleotide variant not provided [RCV002602643] Chr2:88571048 [GRCh38]
Chr2:88870566 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.981A>G (p.Gly327=) single nucleotide variant not provided [RCV002646612] Chr2:88590839 [GRCh38]
Chr2:88890357 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2848G>A (p.Val950Met) single nucleotide variant not provided [RCV002770860] Chr2:88571011 [GRCh38]
Chr2:88870529 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.767+15A>G single nucleotide variant not provided [RCV002857534] Chr2:88593257 [GRCh38]
Chr2:88892775 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.350C>T (p.Ala117Val) single nucleotide variant not provided [RCV002627705] Chr2:88613812 [GRCh38]
Chr2:88913330 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.634-11dup duplication not provided [RCV003044810] Chr2:88593415..88593416 [GRCh38]
Chr2:88892933..88892934 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.2670G>A (p.Leu890=) single nucleotide variant not provided [RCV003046942] Chr2:88574813 [GRCh38]
Chr2:88874331 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1532G>A (p.Arg511His) single nucleotide variant not provided [RCV002717190] Chr2:88585959 [GRCh38]
Chr2:88885477 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2322G>A (p.Gly774=) single nucleotide variant not provided [RCV002834746] Chr2:88575161 [GRCh38]
Chr2:88874679 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.680A>G (p.Asp227Gly) single nucleotide variant Inborn genetic diseases [RCV002934755] Chr2:88593359 [GRCh38]
Chr2:88892877 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3043T>G (p.Phe1015Val) single nucleotide variant not provided [RCV002576923] Chr2:88562333 [GRCh38]
Chr2:88861851 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.480C>T (p.Ala160=) single nucleotide variant not provided [RCV002576550] Chr2:88595622 [GRCh38]
Chr2:88895140 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1717A>C (p.Asn573His) single nucleotide variant not provided [RCV002770134] Chr2:88583476 [GRCh38]
Chr2:88882994 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3003T>C (p.Tyr1001=) single nucleotide variant not provided [RCV002835347] Chr2:88562373 [GRCh38]
Chr2:88861891 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.828C>T (p.Ala276=) single nucleotide variant not provided [RCV002601188] Chr2:88590992 [GRCh38]
Chr2:88890510 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1113AGA[1] (p.Glu372del) microsatellite not provided [RCV002631903] Chr2:88590490..88590492 [GRCh38]
Chr2:88890008..88890010 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2075C>T (p.Ala692Val) single nucleotide variant not provided [RCV002938574] Chr2:88575408 [GRCh38]
Chr2:88874926 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2221C>T (p.Leu741=) single nucleotide variant not provided [RCV002832770] Chr2:88575262 [GRCh38]
Chr2:88874780 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.80C>T (p.Thr27Met) single nucleotide variant not provided [RCV003027281] Chr2:88627195 [GRCh38]
Chr2:88926713 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3025_3029del (p.Ser1009fs) microsatellite not provided [RCV002898637] Chr2:88562347..88562351 [GRCh38]
Chr2:88861865..88861869 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.279C>T (p.Asp93=) single nucleotide variant not provided [RCV002770647] Chr2:88626996 [GRCh38]
Chr2:88926514 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.907G>A (p.Ala303Thr) single nucleotide variant not provided [RCV002645934] Chr2:88590913 [GRCh38]
Chr2:88890431 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.98C>T (p.Ala33Val) single nucleotide variant not provided [RCV002806669] Chr2:88627177 [GRCh38]
Chr2:88926695 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.322A>G (p.Ile108Val) single nucleotide variant not provided [RCV002627665] Chr2:88613840 [GRCh38]
Chr2:88913358 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1307-7C>A single nucleotide variant not provided [RCV002933799] Chr2:88588111 [GRCh38]
Chr2:88887629 [GRCh37]
Chr2:2p11.2		 likely benign|uncertain significance
NM_004836.7(EIF2AK3):c.2951A>C (p.Gln984Pro) single nucleotide variant not provided [RCV002856430] Chr2:88570908 [GRCh38]
Chr2:88870426 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2886G>C (p.Met962Ile) single nucleotide variant not provided [RCV003029606] Chr2:88570973 [GRCh38]
Chr2:88870491 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.989_990insT (p.Glu330fs) insertion not provided [RCV002651489] Chr2:88590830..88590831 [GRCh38]
Chr2:88890348..88890349 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.935T>C (p.Val312Ala) single nucleotide variant not provided [RCV002814745] Chr2:88590885 [GRCh38]
Chr2:88890403 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1022C>T (p.Ser341Phe) single nucleotide variant Inborn genetic diseases [RCV003289560]|not provided [RCV002604931] Chr2:88590586 [GRCh38]
Chr2:88890104 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.665G>A (p.Arg222His) single nucleotide variant not provided [RCV002634938] Chr2:88593374 [GRCh38]
Chr2:88892892 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.170C>G (p.Thr57Arg) single nucleotide variant not provided [RCV002605072] Chr2:88627105 [GRCh38]
Chr2:88926623 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1681A>T (p.Thr561Ser) single nucleotide variant not provided [RCV002653640] Chr2:88583512 [GRCh38]
Chr2:88883030 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2918C>T (p.Thr973Ile) single nucleotide variant not provided [RCV002725724] Chr2:88570941 [GRCh38]
Chr2:88870459 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2838A>G (p.Thr946=) single nucleotide variant not provided [RCV002942718] Chr2:88571021 [GRCh38]
Chr2:88870539 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.972G>C (p.Lys324Asn) single nucleotide variant not provided [RCV002943020] Chr2:88590848 [GRCh38]
Chr2:88890366 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3167A>T (p.Asp1056Val) single nucleotide variant not provided [RCV002607273] Chr2:88557920 [GRCh38]
Chr2:88857438 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1015A>G (p.Ile339Val) single nucleotide variant Inborn genetic diseases [RCV003382894]|not provided [RCV002589066] Chr2:88590593 [GRCh38]
Chr2:88890111 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1763+2dup duplication not provided [RCV003051691] Chr2:88583427..88583428 [GRCh38]
Chr2:88882945..88882946 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2817+5G>A single nucleotide variant not provided [RCV002608136] Chr2:88574661 [GRCh38]
Chr2:88874179 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2817+12_2817+14dup duplication not provided [RCV002603922] Chr2:88574651..88574652 [GRCh38]
Chr2:88874169..88874170 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1449A>G (p.Pro483=) single nucleotide variant not provided [RCV003051802] Chr2:88586042 [GRCh38]
Chr2:88885560 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2746C>T (p.His916Tyr) single nucleotide variant Inborn genetic diseases [RCV003175240] Chr2:88574737 [GRCh38]
Chr2:88874255 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2480T>G (p.Leu827Trp) single nucleotide variant Inborn genetic diseases [RCV003215450] Chr2:88575003 [GRCh38]
Chr2:88874521 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2256T>A (p.Ser752Arg) single nucleotide variant Inborn genetic diseases [RCV003200891] Chr2:88575227 [GRCh38]
Chr2:88874745 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1475G>A (p.Arg492Gln) single nucleotide variant Inborn genetic diseases [RCV003212974] Chr2:88586016 [GRCh38]
Chr2:88885534 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2111C>T (p.Ala704Val) single nucleotide variant Inborn genetic diseases [RCV003210817] Chr2:88575372 [GRCh38]
Chr2:88874890 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.869A>G (p.Glu290Gly) single nucleotide variant Inborn genetic diseases [RCV003309792] Chr2:88590951 [GRCh38]
Chr2:88890469 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter) single nucleotide variant not provided [RCV003327038] Chr2:88583431 [GRCh38]
Chr2:88882949 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile) single nucleotide variant Wolcott-Rallison dysplasia [RCV003335993] Chr2:88558967 [GRCh38]
Chr2:88858485 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3194G>A (p.Arg1065Gln) single nucleotide variant not specified [RCV003331934] Chr2:88557893 [GRCh38]
Chr2:88857411 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs) duplication Wolcott-Rallison dysplasia [RCV003467898]|not provided [RCV003669425] Chr2:88585912..88585913 [GRCh38]
Chr2:88885430..88885431 [GRCh37]
Chr2:2p11.2		 pathogenic|likely pathogenic
NM_004836.7(EIF2AK3):c.1886+2T>C single nucleotide variant Wolcott-Rallison dysplasia [RCV003467902] Chr2:88579516 [GRCh38]
Chr2:88879034 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1002+2T>C single nucleotide variant Wolcott-Rallison dysplasia [RCV003467896] Chr2:88590816 [GRCh38]
Chr2:88890334 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.439del deletion Wolcott-Rallison dysplasia [RCV003467906] Chr2:88595663 [GRCh38]
Chr2:88895181 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs) microsatellite Wolcott-Rallison dysplasia [RCV003467908] Chr2:88595503..88595504 [GRCh38]
Chr2:88895021..88895022 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.3330T>C (p.His1110=) single nucleotide variant not provided [RCV003873218] Chr2:88557757 [GRCh38]
Chr2:88857275 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2919C>G (p.Thr973=) single nucleotide variant not provided [RCV003825680] Chr2:88570940 [GRCh38]
Chr2:88870458 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1236G>A (p.Lys412=) single nucleotide variant not provided [RCV003690986] Chr2:88588831 [GRCh38]
Chr2:88888349 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys) single nucleotide variant Wolcott-Rallison dysplasia [RCV003467900] Chr2:88570890 [GRCh38]
Chr2:88870408 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1306+1G>C single nucleotide variant Wolcott-Rallison dysplasia [RCV003467905]|not provided [RCV003669426] Chr2:88588760 [GRCh38]
Chr2:88888278 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1429+16G>A single nucleotide variant not provided [RCV003570964] Chr2:88587966 [GRCh38]
Chr2:88887484 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.762T>C (p.Asn254=) single nucleotide variant not provided [RCV003543310] Chr2:88593277 [GRCh38]
Chr2:88892795 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1764-7T>C single nucleotide variant not provided [RCV003872590] Chr2:88579647 [GRCh38]
Chr2:88879165 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV003486064] Chr2:88557794 [GRCh38]
Chr2:88857312 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1743A>G (p.Lys581=) single nucleotide variant not provided [RCV003569225] Chr2:88583450 [GRCh38]
Chr2:88882968 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2985+1G>T single nucleotide variant not provided [RCV003569305] Chr2:88570873 [GRCh38]
Chr2:88870391 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer) deletion Wolcott-Rallison dysplasia [RCV003475593] Chr2:88574895 [GRCh38]
Chr2:88874413 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV003460018]|not provided [RCV003553950] Chr2:88576678 [GRCh38]
Chr2:88876196 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1002+1G>C single nucleotide variant Wolcott-Rallison dysplasia [RCV003467895] Chr2:88590817 [GRCh38]
Chr2:88890335 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs) deletion Wolcott-Rallison dysplasia [RCV003467899] Chr2:88575358 [GRCh38]
Chr2:88874876 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV003467907] Chr2:88585928 [GRCh38]
Chr2:88885446 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2847T>C (p.Asp949=) single nucleotide variant not provided [RCV003427101] Chr2:88571012 [GRCh38]
Chr2:88870530 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV003467901] Chr2:88570969 [GRCh38]
Chr2:88870487 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1404A>G (p.Ala468=) single nucleotide variant not provided [RCV003825559] Chr2:88588007 [GRCh38]
Chr2:88887525 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1306+1G>A single nucleotide variant Wolcott-Rallison dysplasia [RCV003467904] Chr2:88588760 [GRCh38]
Chr2:88888278 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter) single nucleotide variant Wolcott-Rallison dysplasia [RCV003467897] Chr2:88593367 [GRCh38]
Chr2:88892885 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.3088-1G>C single nucleotide variant Wolcott-Rallison dysplasia [RCV003467903] Chr2:88558980 [GRCh38]
Chr2:88858498 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.807T>G (p.Ile269Met) single nucleotide variant EIF2AK3-related condition [RCV003408777] Chr2:88591013 [GRCh38]
Chr2:88890531 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs) microsatellite Wolcott-Rallison dysplasia [RCV003460020] Chr2:88574751..88574754 [GRCh38]
Chr2:88874269..88874272 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.462T>A (p.Ile154=) single nucleotide variant not provided [RCV003572432] Chr2:88595640 [GRCh38]
Chr2:88895158 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2352C>T (p.Ser784=) single nucleotide variant not provided [RCV003661330] Chr2:88575131 [GRCh38]
Chr2:88874649 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2346G>A (p.Gly782=) single nucleotide variant not provided [RCV003662663] Chr2:88575137 [GRCh38]
Chr2:88874655 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3150+1G>A single nucleotide variant not provided [RCV003578066] Chr2:88558916 [GRCh38]
Chr2:88858434 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2031T>C (p.Asp677=) single nucleotide variant not provided [RCV003877791] Chr2:88576559 [GRCh38]
Chr2:88876077 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1003-6G>C single nucleotide variant not provided [RCV003694492] Chr2:88590611 [GRCh38]
Chr2:88890129 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3111C>G (p.Leu1037=) single nucleotide variant not provided [RCV003826947] Chr2:88558956 [GRCh38]
Chr2:88858474 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1886+19A>C single nucleotide variant not provided [RCV003687192] Chr2:88579499 [GRCh38]
Chr2:88879017 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.767+20T>C single nucleotide variant not provided [RCV003688495] Chr2:88593252 [GRCh38]
Chr2:88892770 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.767+13A>C single nucleotide variant not provided [RCV003878081] Chr2:88593259 [GRCh38]
Chr2:88892777 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2026A>T (p.Lys676Ter) single nucleotide variant not provided [RCV003693505] Chr2:88576564 [GRCh38]
Chr2:88876082 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2904G>A (p.Glu968=) single nucleotide variant not provided [RCV003574491] Chr2:88570955 [GRCh38]
Chr2:88870473 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-9_1887-6del microsatellite not provided [RCV003828820] Chr2:88576709..88576712 [GRCh38]
Chr2:88876227..88876230 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.633+18A>G single nucleotide variant not provided [RCV003693871] Chr2:88595451 [GRCh38]
Chr2:88894969 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2571T>C (p.Pro857=) single nucleotide variant not provided [RCV003712756] Chr2:88574912 [GRCh38]
Chr2:88874430 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2818-18C>G single nucleotide variant not provided [RCV003577744] Chr2:88571059 [GRCh38]
Chr2:88870577 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1776T>C (p.Asp592=) single nucleotide variant not provided [RCV003696310] Chr2:88579628 [GRCh38]
Chr2:88879146 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.633+16G>A single nucleotide variant not provided [RCV003545284] Chr2:88595453 [GRCh38]
Chr2:88894971 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.767+18G>A single nucleotide variant not provided [RCV003686604] Chr2:88593254 [GRCh38]
Chr2:88892772 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1560C>T (p.His520=) single nucleotide variant not provided [RCV003739135] Chr2:88585931 [GRCh38]
Chr2:88885449 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3054G>A (p.Leu1018=) single nucleotide variant not provided [RCV003714335] Chr2:88562322 [GRCh38]
Chr2:88861840 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-2del deletion not provided [RCV003693079] Chr2:88595665 [GRCh38]
Chr2:88895183 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2517T>C (p.Ala839=) single nucleotide variant not provided [RCV003578234] Chr2:88574966 [GRCh38]
Chr2:88874484 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1835del (p.Asn612fs) deletion not provided [RCV003544821] Chr2:88579569 [GRCh38]
Chr2:88879087 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.643A>G (p.Ile215Val) single nucleotide variant not provided [RCV003694706] Chr2:88593396 [GRCh38]
Chr2:88892914 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1266A>C (p.Ala422=) single nucleotide variant not provided [RCV003573755] Chr2:88588801 [GRCh38]
Chr2:88888319 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2772A>C (p.Ala924=) single nucleotide variant not provided [RCV003829145] Chr2:88574711 [GRCh38]
Chr2:88874229 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-4T>C single nucleotide variant not provided [RCV003694564] Chr2:88558983 [GRCh38]
Chr2:88858501 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1943_1946dup (p.Gly650fs) duplication not provided [RCV003695019] Chr2:88576643..88576644 [GRCh38]
Chr2:88876161..88876162 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1599C>T (p.Ile533=) single nucleotide variant not provided [RCV003547917] Chr2:88585892 [GRCh38]
Chr2:88885410 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3108T>C (p.Asn1036=) single nucleotide variant not provided [RCV003691504] Chr2:88558959 [GRCh38]
Chr2:88858477 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1944C>T (p.His648=) single nucleotide variant not provided [RCV003878717] Chr2:88576646 [GRCh38]
Chr2:88876164 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.885T>C (p.Ile295=) single nucleotide variant not provided [RCV003691622] Chr2:88590935 [GRCh38]
Chr2:88890453 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3087+6dup duplication not provided [RCV003692344] Chr2:88562282..88562283 [GRCh38]
Chr2:88861800..88861801 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-10T>A single nucleotide variant not provided [RCV003578997] Chr2:88576713 [GRCh38]
Chr2:88876231 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1886+18C>T single nucleotide variant not provided [RCV003878667] Chr2:88579500 [GRCh38]
Chr2:88879018 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-5T>G single nucleotide variant not provided [RCV003575439] Chr2:88576708 [GRCh38]
Chr2:88876226 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.426T>C (p.Leu142=) single nucleotide variant not provided [RCV003688512] Chr2:88613736 [GRCh38]
Chr2:88913254 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2910G>T (p.Thr970=) single nucleotide variant not provided [RCV003694343] Chr2:88570949 [GRCh38]
Chr2:88870467 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3141T>A (p.Tyr1047Ter) single nucleotide variant not provided [RCV003574078] Chr2:88558926 [GRCh38]
Chr2:88858444 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.45G>C (p.Leu15=) single nucleotide variant not provided [RCV003662415] Chr2:88627230 [GRCh38]
Chr2:88926748 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV003575573] Chr2:88627235 [GRCh38]
Chr2:88926753 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1143C>T (p.Ala381=) single nucleotide variant not provided [RCV003687227] Chr2:88590465 [GRCh38]
Chr2:88889983 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3279C>T (p.Arg1093=) single nucleotide variant not provided [RCV003690044] Chr2:88557808 [GRCh38]
Chr2:88857326 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1002+10A>G single nucleotide variant not provided [RCV003695911] Chr2:88590808 [GRCh38]
Chr2:88890326 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3034C>T (p.Leu1012=) single nucleotide variant not provided [RCV003827572] Chr2:88562342 [GRCh38]
Chr2:88861860 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1166-6A>G single nucleotide variant not provided [RCV003663119] Chr2:88588907 [GRCh38]
Chr2:88888425 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1353C>T (p.Asp451=) single nucleotide variant not provided [RCV003714342] Chr2:88588058 [GRCh38]
Chr2:88887576 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-7G>A single nucleotide variant not provided [RCV003691491] Chr2:88595670 [GRCh38]
Chr2:88895188 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2986-8del deletion not provided [RCV003661255] Chr2:88562398 [GRCh38]
Chr2:88861916 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2301A>G (p.Thr767=) single nucleotide variant not provided [RCV003545572] Chr2:88575182 [GRCh38]
Chr2:88874700 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1077A>C (p.Thr359=) single nucleotide variant not provided [RCV003694559] Chr2:88590531 [GRCh38]
Chr2:88890049 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1763+17A>G single nucleotide variant not provided [RCV003544892] Chr2:88583413 [GRCh38]
Chr2:88882931 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+2T>C single nucleotide variant not provided [RCV003544597] Chr2:88626965 [GRCh38]
Chr2:88926483 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2613C>A (p.Thr871=) single nucleotide variant not provided [RCV003716376] Chr2:88574870 [GRCh38]
Chr2:88874388 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.99C>T (p.Ala33=) single nucleotide variant not provided [RCV003688296] Chr2:88627176 [GRCh38]
Chr2:88926694 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2986-18C>G single nucleotide variant not provided [RCV003695025] Chr2:88562408 [GRCh38]
Chr2:88861926 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2546_2558del (p.Ser849fs) deletion not provided [RCV003830807] Chr2:88574925..88574937 [GRCh38]
Chr2:88874443..88874455 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2817+14G>A single nucleotide variant not provided [RCV003879716] Chr2:88574652 [GRCh38]
Chr2:88874170 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1650+18T>C single nucleotide variant not provided [RCV003579033] Chr2:88585823 [GRCh38]
Chr2:88885341 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.24G>T (p.Gly8=) single nucleotide variant not provided [RCV003689852] Chr2:88627251 [GRCh38]
Chr2:88926769 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.204C>G (p.Ala68=) single nucleotide variant not provided [RCV003572367] Chr2:88627071 [GRCh38]
Chr2:88926589 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-8del deletion not provided [RCV003660067] Chr2:88558987 [GRCh38]
Chr2:88858505 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.135C>T (p.Phe45=) single nucleotide variant not provided [RCV003686786] Chr2:88627140 [GRCh38]
Chr2:88926658 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1086A>G (p.Thr362=) single nucleotide variant not provided [RCV003547786] Chr2:88590522 [GRCh38]
Chr2:88890040 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2109C>T (p.Phe703=) single nucleotide variant not provided [RCV003881024] Chr2:88575374 [GRCh38]
Chr2:88874892 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2601C>T (p.Leu867=) single nucleotide variant not provided [RCV003573717] Chr2:88574882 [GRCh38]
Chr2:88874400 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-17A>C single nucleotide variant not provided [RCV003660068] Chr2:88558996 [GRCh38]
Chr2:88858514 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3071_3087+167del deletion not provided [RCV003544703] Chr2:88562122..88562305 [GRCh38]
Chr2:88861640..88861823 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.1887-11CT[2] microsatellite not provided [RCV003828148] Chr2:88576709..88576710 [GRCh38]
Chr2:88876227..88876228 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1003-8T>C single nucleotide variant not provided [RCV003544750] Chr2:88590613 [GRCh38]
Chr2:88890131 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1374G>A (p.Lys458=) single nucleotide variant not provided [RCV003574576] Chr2:88588037 [GRCh38]
Chr2:88887555 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.279C>A (p.Asp93Glu) single nucleotide variant not provided [RCV003576232] Chr2:88626996 [GRCh38]
Chr2:88926514 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.546T>G (p.Leu182=) single nucleotide variant not provided [RCV003824634] Chr2:88595556 [GRCh38]
Chr2:88895074 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2472T>G (p.Thr824=) single nucleotide variant not provided [RCV003547953] Chr2:88575011 [GRCh38]
Chr2:88874529 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1545T>A (p.Pro515=) single nucleotide variant not provided [RCV003691399] Chr2:88585946 [GRCh38]
Chr2:88885464 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1306+18T>G single nucleotide variant not provided [RCV003574159] Chr2:88588743 [GRCh38]
Chr2:88888261 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1431T>C (p.Asp477=) single nucleotide variant not provided [RCV003693529] Chr2:88586060 [GRCh38]
Chr2:88885578 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-14T>G single nucleotide variant not provided [RCV003712935] Chr2:88558993 [GRCh38]
Chr2:88858511 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2226A>G (p.Glu742=) single nucleotide variant not provided [RCV003546113] Chr2:88575257 [GRCh38]
Chr2:88874775 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1977C>T (p.Leu659=) single nucleotide variant not provided [RCV003878192] Chr2:88576613 [GRCh38]
Chr2:88876131 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1764-10_1764-8del deletion not provided [RCV003544121] Chr2:88579648..88579650 [GRCh38]
Chr2:88879166..88879168 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2817+9_2817+10del deletion not provided [RCV003663558] Chr2:88574656..88574657 [GRCh38]
Chr2:88874174..88874175 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.39G>T (p.Ala13=) single nucleotide variant not provided [RCV003662593] Chr2:88627236 [GRCh38]
Chr2:88926754 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.519A>G (p.Thr173=) single nucleotide variant not provided [RCV003686527] Chr2:88595583 [GRCh38]
Chr2:88895101 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2699del (p.Met900fs) deletion not provided [RCV003686925] Chr2:88574784 [GRCh38]
Chr2:88874302 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1887-7C>T single nucleotide variant not provided [RCV003811801] Chr2:88576710 [GRCh38]
Chr2:88876228 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3151-11T>C single nucleotide variant not provided [RCV003664276] Chr2:88557947 [GRCh38]
Chr2:88857465 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2367T>C (p.Pro789=) single nucleotide variant not provided [RCV003716834] Chr2:88575116 [GRCh38]
Chr2:88874634 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.489G>A (p.Gln163=) single nucleotide variant not provided [RCV003699943] Chr2:88595613 [GRCh38]
Chr2:88895131 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1003-15dup duplication not provided [RCV003697037] Chr2:88590619..88590620 [GRCh38]
Chr2:88890137..88890138 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.2583C>T (p.Thr861=) single nucleotide variant not provided [RCV003850666] Chr2:88574900 [GRCh38]
Chr2:88874418 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2199A>T (p.Ser733=) single nucleotide variant not provided [RCV003664745] Chr2:88575284 [GRCh38]
Chr2:88874802 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2019T>C (p.Ile673=) single nucleotide variant not provided [RCV003557728] Chr2:88576571 [GRCh38]
Chr2:88876089 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.519A>T (p.Thr173=) single nucleotide variant not provided [RCV003666388] Chr2:88595583 [GRCh38]
Chr2:88895101 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.309-8A>T single nucleotide variant not provided [RCV003697413] Chr2:88613861 [GRCh38]
Chr2:88913379 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.510C>T (p.Ser170=) single nucleotide variant not provided [RCV003697462] Chr2:88595592 [GRCh38]
Chr2:88895110 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3087+17C>A single nucleotide variant not provided [RCV003669707] Chr2:88562272 [GRCh38]
Chr2:88861790 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1886+14C>T single nucleotide variant not provided [RCV003836804] Chr2:88579504 [GRCh38]
Chr2:88879022 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-15T>C single nucleotide variant not provided [RCV003723438] Chr2:88558994 [GRCh38]
Chr2:88858512 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.186G>A (p.Ala62=) single nucleotide variant not provided [RCV003726149] Chr2:88627089 [GRCh38]
Chr2:88926607 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+18C>T single nucleotide variant not provided [RCV003703459] Chr2:88626949 [GRCh38]
Chr2:88926467 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1533C>T (p.Arg511=) single nucleotide variant not provided [RCV003670448] Chr2:88585958 [GRCh38]
Chr2:88885476 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1166-17T>C single nucleotide variant not provided [RCV003815892] Chr2:88588918 [GRCh38]
Chr2:88888436 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2721G>A (p.Glu907=) single nucleotide variant not provided [RCV003840345] Chr2:88574762 [GRCh38]
Chr2:88874280 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1429+19_1429+22del deletion not provided [RCV003834104] Chr2:88587960..88587963 [GRCh38]
Chr2:88887478..88887481 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.633+7G>A single nucleotide variant not provided [RCV003674422] Chr2:88595462 [GRCh38]
Chr2:88894980 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1430-9T>C single nucleotide variant not provided [RCV003665683] Chr2:88586070 [GRCh38]
Chr2:88885588 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1710T>G (p.Gly570=) single nucleotide variant not provided [RCV003697054] Chr2:88583483 [GRCh38]
Chr2:88883001 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2958G>A (p.Gly986=) single nucleotide variant not provided [RCV003816812] Chr2:88570901 [GRCh38]
Chr2:88870419 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1356A>G (p.Lys452=) single nucleotide variant not provided [RCV003673451] Chr2:88588055 [GRCh38]
Chr2:88887573 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.852G>A (p.Lys284=) single nucleotide variant not provided [RCV003557701] Chr2:88590968 [GRCh38]
Chr2:88890486 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3282C>T (p.Ser1094=) single nucleotide variant not provided [RCV003702768] Chr2:88557805 [GRCh38]
Chr2:88857323 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1875T>C (p.Arg625=) single nucleotide variant not provided [RCV003673348] Chr2:88579529 [GRCh38]
Chr2:88879047 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.939G>T (p.Ser313=) single nucleotide variant not provided [RCV003697903] Chr2:88590881 [GRCh38]
Chr2:88890399 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1443T>C (p.Tyr481=) single nucleotide variant not provided [RCV003558211] Chr2:88586048 [GRCh38]
Chr2:88885566 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3278G>A (p.Arg1093His) single nucleotide variant not provided [RCV003815897] Chr2:88557809 [GRCh38]
Chr2:88857327 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1404A>C (p.Ala468=) single nucleotide variant not provided [RCV003663639] Chr2:88588007 [GRCh38]
Chr2:88887525 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3160G>A (p.Val1054Ile) single nucleotide variant not provided [RCV003723355] Chr2:88557927 [GRCh38]
Chr2:88857445 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.3150+8T>C single nucleotide variant not provided [RCV003700303] Chr2:88558909 [GRCh38]
Chr2:88858427 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-20G>C single nucleotide variant not provided [RCV003561896] Chr2:88558999 [GRCh38]
Chr2:88858517 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1764-14A>G single nucleotide variant not provided [RCV003849768] Chr2:88579654 [GRCh38]
Chr2:88879172 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2724G>A (p.Glu908=) single nucleotide variant not provided [RCV003673232] Chr2:88574759 [GRCh38]
Chr2:88874277 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2556A>G (p.Thr852=) single nucleotide variant not provided [RCV003836657] Chr2:88574927 [GRCh38]
Chr2:88874445 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1611G>C (p.Thr537=) single nucleotide variant not provided [RCV003724002] Chr2:88585880 [GRCh38]
Chr2:88885398 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.606A>T (p.Thr202=) single nucleotide variant EIF2AK3-related condition [RCV003901228]|not provided [RCV003666701] Chr2:88595496 [GRCh38]
Chr2:88895014 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.111A>C (p.Pro37=) single nucleotide variant not provided [RCV003558228] Chr2:88627164 [GRCh38]
Chr2:88926682 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-11T>C single nucleotide variant not provided [RCV003702271] Chr2:88595674 [GRCh38]
Chr2:88895192 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1620G>C (p.Val540=) single nucleotide variant not provided [RCV003665061] Chr2:88585871 [GRCh38]
Chr2:88885389 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1651-9C>T single nucleotide variant not provided [RCV003667779] Chr2:88583551 [GRCh38]
Chr2:88883069 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1047A>G (p.Lys349=) single nucleotide variant not provided [RCV003702153] Chr2:88590561 [GRCh38]
Chr2:88890079 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.81G>A (p.Thr27=) single nucleotide variant not provided [RCV003839640] Chr2:88627194 [GRCh38]
Chr2:88926712 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2424T>C (p.Phe808=) single nucleotide variant not provided [RCV003559734] Chr2:88575059 [GRCh38]
Chr2:88874577 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.84G>A (p.Val28=) single nucleotide variant not provided [RCV003723641] Chr2:88627191 [GRCh38]
Chr2:88926709 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1542T>C (p.Asp514=) single nucleotide variant not provided [RCV003697643] Chr2:88585949 [GRCh38]
Chr2:88885467 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3124T>C (p.Leu1042=) single nucleotide variant not provided [RCV003699729] Chr2:88558943 [GRCh38]
Chr2:88858461 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+20G>C single nucleotide variant not provided [RCV003665783] Chr2:88626947 [GRCh38]
Chr2:88926465 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1165+11G>A single nucleotide variant not provided [RCV003723296] Chr2:88590432 [GRCh38]
Chr2:88889950 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3042A>G (p.Leu1014=) single nucleotide variant not provided [RCV003854271] Chr2:88562334 [GRCh38]
Chr2:88861852 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.309-18T>C single nucleotide variant not provided [RCV003668014] Chr2:88613871 [GRCh38]
Chr2:88913389 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1650+15_1650+16insTAA insertion not provided [RCV003839074] Chr2:88585825..88585826 [GRCh38]
Chr2:88885343..88885344 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1166-7G>C single nucleotide variant not provided [RCV003836778] Chr2:88588908 [GRCh38]
Chr2:88888426 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1166-15T>C single nucleotide variant not provided [RCV003700311] Chr2:88588916 [GRCh38]
Chr2:88888434 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.189C>T (p.Gly63=) single nucleotide variant not provided [RCV003836975] Chr2:88627086 [GRCh38]
Chr2:88926604 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1263C>T (p.Asn421=) single nucleotide variant not provided [RCV003672589] Chr2:88588804 [GRCh38]
Chr2:88888322 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3222T>C (p.Asn1074=) single nucleotide variant not provided [RCV003560705] Chr2:88557865 [GRCh38]
Chr2:88857383 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1884T>C (p.Asn628=) single nucleotide variant not provided [RCV003832913] Chr2:88579520 [GRCh38]
Chr2:88879038 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.192C>G (p.Ala64=) single nucleotide variant not provided [RCV003811293] Chr2:88627083 [GRCh38]
Chr2:88926601 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2193A>G (p.Thr731=) single nucleotide variant not provided [RCV003549541] Chr2:88575290 [GRCh38]
Chr2:88874808 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1530C>A (p.Ile510=) single nucleotide variant EIF2AK3-related condition [RCV003939134]|not provided [RCV003672604] Chr2:88585961 [GRCh38]
Chr2:88885479 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1307-9T>C single nucleotide variant not provided [RCV003832983] Chr2:88588113 [GRCh38]
Chr2:88887631 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.439-12C>T single nucleotide variant not provided [RCV003850375] Chr2:88595675 [GRCh38]
Chr2:88895193 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1002+8A>C single nucleotide variant not provided [RCV003664003] Chr2:88590810 [GRCh38]
Chr2:88890328 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+19G>A single nucleotide variant not provided [RCV003664035] Chr2:88626948 [GRCh38]
Chr2:88926466 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.39G>A (p.Ala13=) single nucleotide variant not provided [RCV003838178] Chr2:88627236 [GRCh38]
Chr2:88926754 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2445T>C (p.Asn815=) single nucleotide variant not provided [RCV003718102] Chr2:88575038 [GRCh38]
Chr2:88874556 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1764-12C>A single nucleotide variant not provided [RCV003580242] Chr2:88579652 [GRCh38]
Chr2:88879170 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2211G>A (p.Gln737=) single nucleotide variant not provided [RCV003698338] Chr2:88575272 [GRCh38]
Chr2:88874790 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1899G>C (p.Arg633=) single nucleotide variant not provided [RCV003697546] Chr2:88576691 [GRCh38]
Chr2:88876209 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3324C>T (p.Asn1108=) single nucleotide variant not provided [RCV003701599] Chr2:88557763 [GRCh38]
Chr2:88857281 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.309-15T>C single nucleotide variant not provided [RCV003667555] Chr2:88613868 [GRCh38]
Chr2:88913386 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-19A>C single nucleotide variant not provided [RCV003838251] Chr2:88576722 [GRCh38]
Chr2:88876240 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.654T>C (p.Ala218=) single nucleotide variant not provided [RCV003839066] Chr2:88593385 [GRCh38]
Chr2:88892903 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2463G>A (p.Glu821=) single nucleotide variant not provided [RCV003816063] Chr2:88575020 [GRCh38]
Chr2:88874538 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1886+11G>A single nucleotide variant not provided [RCV003560449] Chr2:88579507 [GRCh38]
Chr2:88879025 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.768-20C>T single nucleotide variant not provided [RCV003723960] Chr2:88591072 [GRCh38]
Chr2:88890590 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.36G>C (p.Arg12=) single nucleotide variant not provided [RCV003673079] Chr2:88627239 [GRCh38]
Chr2:88926757 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1905G>A (p.Lys635=) single nucleotide variant EIF2AK3-related condition [RCV003919310]|not provided [RCV003667528] Chr2:88576685 [GRCh38]
Chr2:88876203 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1233C>T (p.Pro411=) single nucleotide variant not provided [RCV003861716] Chr2:88588834 [GRCh38]
Chr2:88888352 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2541T>A (p.Ser847=) single nucleotide variant not provided [RCV003818296] Chr2:88574942 [GRCh38]
Chr2:88874460 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.213T>C (p.Thr71=) single nucleotide variant not provided [RCV003864840] Chr2:88627062 [GRCh38]
Chr2:88926580 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.81G>T (p.Thr27=) single nucleotide variant not provided [RCV003564431] Chr2:88627194 [GRCh38]
Chr2:88926712 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2733G>A (p.Arg911=) single nucleotide variant not provided [RCV003707596] Chr2:88574750 [GRCh38]
Chr2:88874268 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.438+11T>C single nucleotide variant not provided [RCV003677325] Chr2:88613713 [GRCh38]
Chr2:88913231 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.369T>C (p.His123=) single nucleotide variant not provided [RCV003822319] Chr2:88613793 [GRCh38]
Chr2:88913311 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2271A>G (p.Ala757=) single nucleotide variant not provided [RCV003568030] Chr2:88575212 [GRCh38]
Chr2:88874730 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.264G>A (p.Arg88=) single nucleotide variant not provided [RCV003677362] Chr2:88627011 [GRCh38]
Chr2:88926529 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2416A>G (p.Ile806Val) single nucleotide variant not provided [RCV003843708] Chr2:88575067 [GRCh38]
Chr2:88874585 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.439-13G>A single nucleotide variant not provided [RCV003822416] Chr2:88595676 [GRCh38]
Chr2:88895194 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1881C>T (p.Pro627=) single nucleotide variant not provided [RCV003865967] Chr2:88579523 [GRCh38]
Chr2:88879041 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1307-19A>G single nucleotide variant not provided [RCV003562983] Chr2:88588123 [GRCh38]
Chr2:88887641 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3102A>G (p.Val1034=) single nucleotide variant not provided [RCV003679887] Chr2:88558965 [GRCh38]
Chr2:88858483 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3096T>C (p.Thr1032=) single nucleotide variant not provided [RCV003678752] Chr2:88558971 [GRCh38]
Chr2:88858489 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2840T>G (p.Met947Arg) single nucleotide variant not provided [RCV003676380] Chr2:88571019 [GRCh38]
Chr2:88870537 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.549A>G (p.Glu183=) single nucleotide variant not provided [RCV003820421] Chr2:88595553 [GRCh38]
Chr2:88895071 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2520C>T (p.Phe840=) single nucleotide variant not provided [RCV003840950] Chr2:88574963 [GRCh38]
Chr2:88874481 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2817+8T>A single nucleotide variant not provided [RCV003553733] Chr2:88574658 [GRCh38]
Chr2:88874176 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3216T>C (p.Ile1072=) single nucleotide variant not provided [RCV003551111] Chr2:88557871 [GRCh38]
Chr2:88857389 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2598T>C (p.Asp866=) single nucleotide variant not provided [RCV003680616] Chr2:88574885 [GRCh38]
Chr2:88874403 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+16C>G single nucleotide variant not provided [RCV003822001] Chr2:88626951 [GRCh38]
Chr2:88926469 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2414C>T (p.Ser805Leu) single nucleotide variant not provided [RCV003848188] Chr2:88575069 [GRCh38]
Chr2:88874587 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.333A>G (p.Leu111=) single nucleotide variant not provided [RCV003681647] Chr2:88613829 [GRCh38]
Chr2:88913347 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2823C>T (p.Ser941=) single nucleotide variant not provided [RCV003866049] Chr2:88571036 [GRCh38]
Chr2:88870554 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3265A>C (p.Arg1089=) single nucleotide variant not provided [RCV003678231] Chr2:88557822 [GRCh38]
Chr2:88857340 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1166-11G>C single nucleotide variant not provided [RCV003704044] Chr2:88588912 [GRCh38]
Chr2:88888430 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.201G>A (p.Ala67=) single nucleotide variant not provided [RCV003863279] Chr2:88627074 [GRCh38]
Chr2:88926592 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1977C>G (p.Leu659=) single nucleotide variant not provided [RCV003684095] Chr2:88576613 [GRCh38]
Chr2:88876131 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-9T>C single nucleotide variant not provided [RCV003566497] Chr2:88558988 [GRCh38]
Chr2:88858506 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.767+15A>C single nucleotide variant not provided [RCV003568308] Chr2:88593257 [GRCh38]
Chr2:88892775 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.633+1G>T single nucleotide variant not provided [RCV003685570] Chr2:88595468 [GRCh38]
Chr2:88894986 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.88_139dup (p.Leu47fs) duplication not provided [RCV003562451] Chr2:88627135..88627136 [GRCh38]
Chr2:88926653..88926654 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.2295C>T (p.Cys765=) single nucleotide variant not provided [RCV003680870] Chr2:88575188 [GRCh38]
Chr2:88874706 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1886+16T>G single nucleotide variant not provided [RCV003670853] Chr2:88579502 [GRCh38]
Chr2:88879020 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3339G>A (p.Leu1113=) single nucleotide variant not provided [RCV003681065] Chr2:88557748 [GRCh38]
Chr2:88857266 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3150+16A>T single nucleotide variant not provided [RCV003719132] Chr2:88558901 [GRCh38]
Chr2:88858419 [GRCh37]
Chr2:2p11.2		 likely benign
GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1 copy number loss not specified [RCV003986243] Chr2:88134750..89126290 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.1575A>C (p.Ile525=) single nucleotide variant not provided [RCV003677607] Chr2:88585916 [GRCh38]
Chr2:88885434 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.634-11del deletion not provided [RCV003866380] Chr2:88593416 [GRCh38]
Chr2:88892934 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.1368T>C (p.Asn456=) single nucleotide variant not provided [RCV003552617] Chr2:88588043 [GRCh38]
Chr2:88887561 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2649T>C (p.Tyr883=) single nucleotide variant not provided [RCV003676384] Chr2:88574834 [GRCh38]
Chr2:88874352 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3129T>C (p.Phe1043=) single nucleotide variant not provided [RCV003864457] Chr2:88558938 [GRCh38]
Chr2:88858456 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1886+13A>G single nucleotide variant not provided [RCV003681558] Chr2:88579505 [GRCh38]
Chr2:88879023 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.999C>T (p.Tyr333=) single nucleotide variant not provided [RCV003709108] Chr2:88590821 [GRCh38]
Chr2:88890339 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2994A>G (p.Gly998=) single nucleotide variant not provided [RCV003681757] Chr2:88562382 [GRCh38]
Chr2:88861900 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.308+9C>T single nucleotide variant not provided [RCV003844422] Chr2:88626958 [GRCh38]
Chr2:88926476 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.66G>T (p.Gly22=) single nucleotide variant not provided [RCV003821980] Chr2:88627209 [GRCh38]
Chr2:88926727 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-15T>G single nucleotide variant not provided [RCV003707460] Chr2:88558994 [GRCh38]
Chr2:88858512 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1763+20C>T single nucleotide variant not provided [RCV003557192] Chr2:88583410 [GRCh38]
Chr2:88882928 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2259G>A (p.Glu753=) single nucleotide variant not provided [RCV003683728] Chr2:88575224 [GRCh38]
Chr2:88874742 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-9dup duplication not provided [RCV003719699] Chr2:88558987..88558988 [GRCh38]
Chr2:88858505..88858506 [GRCh37]
Chr2:2p11.2		 benign
NM_004836.7(EIF2AK3):c.3279C>A (p.Arg1093=) single nucleotide variant not provided [RCV003679842] Chr2:88557808 [GRCh38]
Chr2:88857326 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2037-15T>C single nucleotide variant not provided [RCV003684714] Chr2:88575461 [GRCh38]
Chr2:88874979 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3087+16A>C single nucleotide variant not provided [RCV003706085] Chr2:88562273 [GRCh38]
Chr2:88861791 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2496T>C (p.His832=) single nucleotide variant not provided [RCV003869600] Chr2:88574987 [GRCh38]
Chr2:88874505 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3246T>C (p.Phe1082=) single nucleotide variant not provided [RCV003869607] Chr2:88557841 [GRCh38]
Chr2:88857359 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2460A>G (p.Glu820=) single nucleotide variant not provided [RCV003840631] Chr2:88575023 [GRCh38]
Chr2:88874541 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2036+20A>G single nucleotide variant not provided [RCV003846809] Chr2:88576534 [GRCh38]
Chr2:88876052 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1779T>C (p.Phe593=) single nucleotide variant not provided [RCV003684727] Chr2:88579625 [GRCh38]
Chr2:88879143 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1002+1G>A single nucleotide variant not provided [RCV003818279] Chr2:88590817 [GRCh38]
Chr2:88890335 [GRCh37]
Chr2:2p11.2		 likely pathogenic
NM_004836.7(EIF2AK3):c.2523G>A (p.Lys841=) single nucleotide variant not provided [RCV003550272] Chr2:88574960 [GRCh38]
Chr2:88874478 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3150+16_3150+17del deletion not provided [RCV003868508] Chr2:88558900..88558901 [GRCh38]
Chr2:88858418..88858419 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3234G>A (p.Glu1078=) single nucleotide variant not provided [RCV003563556] Chr2:88557853 [GRCh38]
Chr2:88857371 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1165+13dup duplication not provided [RCV003542804] Chr2:88590429..88590430 [GRCh38]
Chr2:88889947..88889948 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2436C>T (p.Gly812=) single nucleotide variant not provided [RCV003563637] Chr2:88575047 [GRCh38]
Chr2:88874565 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1020A>G (p.Ala340=) single nucleotide variant not provided [RCV003676001] Chr2:88590588 [GRCh38]
Chr2:88890106 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1261_1262insTCTGTCACTAACGCAATTGGTA (p.Asn421delinsIleCysHisTer) insertion not provided [RCV003677376] Chr2:88588805..88588806 [GRCh38]
Chr2:88888323..88888324 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1307-19AAT[2] microsatellite not provided [RCV003680836] Chr2:88588115..88588117 [GRCh38]
Chr2:88887633..88887635 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2817+17C>T single nucleotide variant not provided [RCV003557609] Chr2:88574649 [GRCh38]
Chr2:88874167 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1479C>T (p.Ser493=) single nucleotide variant not provided [RCV003675964] Chr2:88586012 [GRCh38]
Chr2:88885530 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2712T>C (p.Cys904=) single nucleotide variant not provided [RCV003712161] Chr2:88574771 [GRCh38]
Chr2:88874289 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.627_628dup (p.Gly210fs) duplication not provided [RCV003564068] Chr2:88595473..88595474 [GRCh38]
Chr2:88894991..88894992 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1886+20G>A single nucleotide variant not provided [RCV003679476] Chr2:88579498 [GRCh38]
Chr2:88879016 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.638G>A (p.Arg213Lys) single nucleotide variant not provided [RCV003681483] Chr2:88593401 [GRCh38]
Chr2:88892919 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2106T>A (p.Pro702=) single nucleotide variant not provided [RCV003679701] Chr2:88575377 [GRCh38]
Chr2:88874895 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3088-20G>A single nucleotide variant not provided [RCV003844142] Chr2:88558999 [GRCh38]
Chr2:88858517 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.93G>A (p.Gly31=) single nucleotide variant not provided [RCV003862605] Chr2:88627182 [GRCh38]
Chr2:88926700 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.783T>C (p.Val261=) single nucleotide variant not provided [RCV003857811] Chr2:88591037 [GRCh38]
Chr2:88890555 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1999dup (p.Gln667fs) duplication not provided [RCV003555226] Chr2:88576590..88576591 [GRCh38]
Chr2:88876108..88876109 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.615C>T (p.Leu205=) single nucleotide variant not provided [RCV003705916] Chr2:88595487 [GRCh38]
Chr2:88895005 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.123G>A (p.Ala41=) single nucleotide variant not provided [RCV003556835] Chr2:88627152 [GRCh38]
Chr2:88926670 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2586T>G (p.Thr862=) single nucleotide variant not provided [RCV003710018] Chr2:88574897 [GRCh38]
Chr2:88874415 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1392T>C (p.Tyr464=) single nucleotide variant not provided [RCV003847642] Chr2:88588019 [GRCh38]
Chr2:88887537 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1887-19A>T single nucleotide variant not provided [RCV003563374] Chr2:88576722 [GRCh38]
Chr2:88876240 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2994A>C (p.Gly998=) single nucleotide variant not provided [RCV003564457] Chr2:88562382 [GRCh38]
Chr2:88861900 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.24G>A (p.Gly8=) single nucleotide variant not provided [RCV003682510] Chr2:88627251 [GRCh38]
Chr2:88926769 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.266del (p.Gly89fs) deletion not provided [RCV003718650] Chr2:88627009 [GRCh38]
Chr2:88926527 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.3029T>G (p.Leu1010Ter) single nucleotide variant not provided [RCV003551433] Chr2:88562347 [GRCh38]
Chr2:88861865 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1429+18G>C single nucleotide variant not provided [RCV003710042] Chr2:88587964 [GRCh38]
Chr2:88887482 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2985+15C>G single nucleotide variant not provided [RCV003705020] Chr2:88570859 [GRCh38]
Chr2:88870377 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.192C>A (p.Ala64=) single nucleotide variant not provided [RCV003711811] Chr2:88627083 [GRCh38]
Chr2:88926601 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3285G>A (p.Leu1095=) single nucleotide variant not provided [RCV003679883] Chr2:88557802 [GRCh38]
Chr2:88857320 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2037-17A>G single nucleotide variant not provided [RCV003865930] Chr2:88575463 [GRCh38]
Chr2:88874981 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1767T>C (p.Tyr589=) single nucleotide variant not provided [RCV003670706] Chr2:88579637 [GRCh38]
Chr2:88879155 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2818-7T>G single nucleotide variant not provided [RCV003847959] Chr2:88571048 [GRCh38]
Chr2:88870566 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.633+13G>T single nucleotide variant not provided [RCV003553375] Chr2:88595456 [GRCh38]
Chr2:88894974 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1842_1845dup (p.Asp616delinsArgTer) duplication not provided [RCV003566228] Chr2:88579558..88579559 [GRCh38]
Chr2:88879076..88879077 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV003680423] Chr2:88627230 [GRCh38]
Chr2:88926748 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2292T>C (p.Ser764=) single nucleotide variant not provided [RCV003727453] Chr2:88575191 [GRCh38]
Chr2:88874709 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.246G>A (p.Ala82=) single nucleotide variant not provided [RCV003566888] Chr2:88627029 [GRCh38]
Chr2:88926547 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2036+7_2036+10del microsatellite not provided [RCV003707753] Chr2:88576544..88576547 [GRCh38]
Chr2:88876062..88876065 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1257T>C (p.Asn419=) single nucleotide variant not provided [RCV003677377] Chr2:88588810 [GRCh38]
Chr2:88888328 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1970C>T (p.Ala657Val) single nucleotide variant not provided [RCV003552359] Chr2:88576620 [GRCh38]
Chr2:88876138 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_004836.7(EIF2AK3):c.2037-19G>C single nucleotide variant not provided [RCV003708071] Chr2:88575465 [GRCh38]
Chr2:88874983 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1764-10C>T single nucleotide variant not provided [RCV003845193] Chr2:88579650 [GRCh38]
Chr2:88879168 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3193C>T (p.Arg1065Ter) single nucleotide variant not provided [RCV003554944] Chr2:88557894 [GRCh38]
Chr2:88857412 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1474C>T (p.Arg492Ter) single nucleotide variant not provided [RCV003554945] Chr2:88586017 [GRCh38]
Chr2:88885535 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.3036G>A (p.Leu1012=) single nucleotide variant not provided [RCV003675148] Chr2:88562340 [GRCh38]
Chr2:88861858 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.192C>T (p.Ala64=) single nucleotide variant not provided [RCV003705440] Chr2:88627083 [GRCh38]
Chr2:88926601 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2235A>C (p.Gly745=) single nucleotide variant not provided [RCV003556647] Chr2:88575248 [GRCh38]
Chr2:88874766 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.216G>A (p.Val72=) single nucleotide variant not provided [RCV003551923] Chr2:88627059 [GRCh38]
Chr2:88926577 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.3267A>G (p.Arg1089=) single nucleotide variant not provided [RCV003727511] Chr2:88557820 [GRCh38]
Chr2:88857338 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.438+10T>C single nucleotide variant not provided [RCV003675192] Chr2:88613714 [GRCh38]
Chr2:88913232 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1056C>T (p.Pro352=) single nucleotide variant not provided [RCV003843832] Chr2:88590552 [GRCh38]
Chr2:88890070 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2921del (p.Pro974fs) deletion not provided [RCV003550720] Chr2:88570938 [GRCh38]
Chr2:88870456 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1183C>T (p.Leu395=) single nucleotide variant not provided [RCV003568274] Chr2:88588884 [GRCh38]
Chr2:88888402 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1216_1217del (p.Lys406fs) deletion not provided [RCV003554979] Chr2:88588850..88588851 [GRCh38]
Chr2:88888368..88888369 [GRCh37]
Chr2:2p11.2		 pathogenic
NM_004836.7(EIF2AK3):c.1307-17T>A single nucleotide variant not provided [RCV003562982] Chr2:88588121 [GRCh38]
Chr2:88887639 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1650+13G>A single nucleotide variant not provided [RCV003564403] Chr2:88585828 [GRCh38]
Chr2:88885346 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.1197A>G (p.Ser399=) single nucleotide variant not provided [RCV003887021] Chr2:88588870 [GRCh38]
Chr2:88888388 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.2580A>C (p.Pro860=) single nucleotide variant EIF2AK3-related condition [RCV003919541] Chr2:88574903 [GRCh38]
Chr2:88874421 [GRCh37]
Chr2:2p11.2		 likely benign
NM_004836.7(EIF2AK3):c.40CTG[6] (p.Leu20_Leu21del) microsatellite EIF2AK3-related condition [RCV003907254] Chr2:88627212..88627217 [GRCh38]
Chr2:88926730..88926735 [GRCh37]
Chr2:2p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1144
Count of miRNA genes:619
Interacting mature miRNAs:680
Transcripts:ENST00000303236, ENST00000415570, ENST00000419748, ENST00000470706, ENST00000477083, ENST00000478003
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH91182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37288,856,338 - 88,856,470UniSTSGRCh37
Build 36288,637,453 - 88,637,585RGDNCBI36
Celera287,929,817 - 87,929,949RGD
Cytogenetic Map2p12UniSTS
HuRef287,778,152 - 87,778,284UniSTS
GeneMap99-GB4 RH Map2316.8UniSTS
RH46266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37288,864,992 - 88,865,157UniSTSGRCh37
Build 36288,646,107 - 88,646,272RGDNCBI36
Celera287,921,114 - 87,921,279RGD
Cytogenetic Map2p12UniSTS
HuRef287,786,862 - 87,787,027UniSTS
RH104259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37288,866,759 - 88,866,886UniSTSGRCh37
Build 36288,647,874 - 88,648,001RGDNCBI36
Celera287,919,385 - 87,919,512RGD
Cytogenetic Map2p12UniSTS
HuRef287,788,629 - 87,788,756UniSTS
GeneMap99-GB4 RH Map2308.02UniSTS
SHGC-142459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37288,919,814 - 88,920,121UniSTSGRCh37
Build 36288,700,929 - 88,701,236RGDNCBI36
Celera287,866,224 - 87,866,531RGD
Cytogenetic Map2p12UniSTS
HuRef287,841,650 - 87,841,957UniSTS
D2S1994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37288,856,284 - 88,856,484UniSTSGRCh37
Build 36288,637,399 - 88,637,599RGDNCBI36
Celera287,929,803 - 87,930,003RGD
Cytogenetic Map2p12UniSTS
HuRef287,778,098 - 87,778,298UniSTS
Whitehead-YAC Contig Map2 UniSTS


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
Medium 784 1155 1184 250 998 106 2807 276 1166 200 880 1494 155 817 1673 4
Low 1649 1778 539 373 902 358 1548 1917 2542 218 568 114 16 387 1115 1
Below cutoff 54 1 1 50 1 3 14 1 7 4 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001313915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC062029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI650734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ014181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB162654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN285475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA990609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB287944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT012628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT012629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303236   ⟹   ENSP00000307235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,741 - 88,627,464 (-)Ensembl
RefSeq Acc Id: ENST00000415570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,557,854 - 88,595,857 (-)Ensembl
RefSeq Acc Id: ENST00000470706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,570,920 - 88,575,408 (-)Ensembl
RefSeq Acc Id: ENST00000478003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,570,017 - 88,581,231 (-)Ensembl
RefSeq Acc Id: ENST00000652099   ⟹   ENSP00000498211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,935 - 88,627,272 (-)Ensembl
RefSeq Acc Id: ENST00000652423   ⟹   ENSP00000498948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,595,620 - 88,627,445 (-)Ensembl
RefSeq Acc Id: ENST00000652666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,810 - 88,561,336 (-)Ensembl
RefSeq Acc Id: ENST00000652736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,741 - 88,624,929 (-)Ensembl
RefSeq Acc Id: ENST00000668866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,690,177 - 88,691,464 (-)Ensembl
RefSeq Acc Id: ENST00000681996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,588,833 - 88,595,229 (-)Ensembl
RefSeq Acc Id: ENST00000682103   ⟹   ENSP00000508290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,810 - 88,575,023 (-)Ensembl
RefSeq Acc Id: ENST00000682276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,810 - 88,595,556 (-)Ensembl
RefSeq Acc Id: ENST00000682468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,810 - 88,571,396 (-)Ensembl
RefSeq Acc Id: ENST00000682603   ⟹   ENSP00000508149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,741 - 88,574,714 (-)Ensembl
RefSeq Acc Id: ENST00000682656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,685,170 - 88,691,476 (-)Ensembl
RefSeq Acc Id: ENST00000682844   ⟹   ENSP00000507663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,931 - 88,570,914 (-)Ensembl
RefSeq Acc Id: ENST00000682892   ⟹   ENSP00000507214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,941 - 88,691,476 (-)Ensembl
RefSeq Acc Id: ENST00000682952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,810 - 88,594,086 (-)Ensembl
RefSeq Acc Id: ENST00000683501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,686,998 - 88,691,518 (-)Ensembl
RefSeq Acc Id: ENST00000683663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,765 - 88,565,361 (-)Ensembl
RefSeq Acc Id: ENST00000684455   ⟹   ENSP00000506923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,810 - 88,593,295 (-)Ensembl
RefSeq Acc Id: ENST00000684535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,687,007 - 88,691,516 (-)Ensembl
RefSeq Acc Id: ENST00000684642   ⟹   ENSP00000507355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,769 - 88,595,498 (-)Ensembl
RefSeq Acc Id: ENST00000684740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl288,556,746 - 88,581,581 (-)Ensembl
RefSeq Acc Id: NM_001313915   ⟹   NP_001300844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,556,741 - 88,624,929 (-)NCBI
CHM1_1288,785,815 - 88,854,000 (-)NCBI
T2T-CHM13v2.0288,568,747 - 88,636,940 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004836   ⟹   NP_004827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,556,741 - 88,627,464 (-)NCBI
GRCh37288,856,259 - 88,927,094 (-)ENTREZGENE
Build 36288,637,374 - 88,708,109 (-)NCBI Archive
HuRef287,778,073 - 87,848,926 (-)ENTREZGENE
CHM1_1288,785,815 - 88,856,644 (-)NCBI
T2T-CHM13v2.0288,568,747 - 88,639,468 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446428   ⟹   XP_047302384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,556,741 - 88,628,145 (-)NCBI
RefSeq Acc Id: XM_047446429   ⟹   XP_047302385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,556,741 - 88,594,058 (-)NCBI
RefSeq Acc Id: XM_047446430   ⟹   XP_047302386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,579,526 - 88,627,464 (-)NCBI
RefSeq Acc Id: XM_054344636   ⟹   XP_054200611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0288,568,747 - 88,640,715 (-)NCBI
RefSeq Acc Id: XM_054344637   ⟹   XP_054200612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0288,568,747 - 88,606,066 (-)NCBI
RefSeq Acc Id: XM_054344638   ⟹   XP_054200613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0288,591,534 - 88,639,468 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001300844 (Get FASTA)   NCBI Sequence Viewer  
  NP_004827 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302384 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302385 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200611 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200612 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200613 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD19961 (Get FASTA)   NCBI Sequence Viewer  
  AAF61199 (Get FASTA)   NCBI Sequence Viewer  
  AAF91480 (Get FASTA)   NCBI Sequence Viewer  
  AAI26355 (Get FASTA)   NCBI Sequence Viewer  
  AAI26357 (Get FASTA)   NCBI Sequence Viewer  
  AAY14777 (Get FASTA)   NCBI Sequence Viewer  
  AAY24331 (Get FASTA)   NCBI Sequence Viewer  
  BAG37696 (Get FASTA)   NCBI Sequence Viewer  
  BAG54707 (Get FASTA)   NCBI Sequence Viewer  
  CAH18234 (Get FASTA)   NCBI Sequence Viewer  
  EAW77068 (Get FASTA)   NCBI Sequence Viewer  
  EAW77069 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000307235
  ENSP00000307235.3
  ENSP00000498211.1
  ENSP00000498948.1
  ENSP00000506923.1
  ENSP00000507214
  ENSP00000507214.1
  ENSP00000507355
  ENSP00000507355.1
  ENSP00000507663.1
  ENSP00000508149.1
  ENSP00000508290.1
GenBank Protein Q9NZJ5 (Get FASTA)   NCBI Sequence Viewer  
  QIA59047 (Get FASTA)   NCBI Sequence Viewer  
  QIA59048 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004827   ⟸   NM_004836
- Peptide Label: isoform 1 precursor
- UniProtKB: Q53QY0 (UniProtKB/Swiss-Prot),   O95846 (UniProtKB/Swiss-Prot),   B2RCU9 (UniProtKB/Swiss-Prot),   A0AVH2 (UniProtKB/Swiss-Prot),   A0AVH1 (UniProtKB/Swiss-Prot),   Q53SB1 (UniProtKB/Swiss-Prot),   Q9NZJ5 (UniProtKB/Swiss-Prot),   B3KY45 (UniProtKB/TrEMBL),   Q68DI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300844   ⟸   NM_001313915
- Peptide Label: isoform 2
- UniProtKB: Q68DI6 (UniProtKB/TrEMBL),   A0A804HIT4 (UniProtKB/TrEMBL),   B3KY45 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498211   ⟸   ENST00000652099
RefSeq Acc Id: ENSP00000498948   ⟸   ENST00000652423
RefSeq Acc Id: ENSP00000307235   ⟸   ENST00000303236
RefSeq Acc Id: ENSP00000508290   ⟸   ENST00000682103
RefSeq Acc Id: ENSP00000507355   ⟸   ENST00000684642
RefSeq Acc Id: ENSP00000507214   ⟸   ENST00000682892
RefSeq Acc Id: ENSP00000507663   ⟸   ENST00000682844
RefSeq Acc Id: ENSP00000506923   ⟸   ENST00000684455
RefSeq Acc Id: ENSP00000508149   ⟸   ENST00000682603
RefSeq Acc Id: XP_047302384   ⟸   XM_047446428
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047302385   ⟸   XM_047446429
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302386   ⟸   XM_047446430
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200611   ⟸   XM_054344636
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200612   ⟸   XM_054344637
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200613   ⟸   XM_054344638
- Peptide Label: isoform X3
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZJ5-F1-model_v2 AlphaFold Q9NZJ5 1-1116 view protein structure

Promoters
RGD ID:6860992
Promoter ID:EPDNEW_H3661
Type:initiation region
Name:EIF2AK3_1
Description:eukaryotic translation initiation factor 2 alpha kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3662  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,627,456 - 88,627,516EPDNEW
RGD ID:6860994
Promoter ID:EPDNEW_H3662
Type:initiation region
Name:EIF2AK3_2
Description:eukaryotic translation initiation factor 2 alpha kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3661  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38288,628,145 - 88,628,205EPDNEW
RGD ID:6797137
Promoter ID:HG_KWN:33706
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000338239
Position:
Human AssemblyChrPosition (strand)Source
Build 36288,655,751 - 88,656,251 (-)MPROMDB
RGD ID:6797135
Promoter ID:HG_KWN:33707
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000338238
Position:
Human AssemblyChrPosition (strand)Source
Build 36288,660,666 - 88,661,166 (-)MPROMDB
RGD ID:6797134
Promoter ID:HG_KWN:33710
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000338235
Position:
Human AssemblyChrPosition (strand)Source
Build 36288,705,281 - 88,706,082 (-)MPROMDB
RGD ID:6796609
Promoter ID:HG_KWN:33711
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000338242,   UC002STC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36288,707,031 - 88,709,777 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3255 AgrOrtholog
COSMIC EIF2AK3 COSMIC
Ensembl Genes ENSG00000172071 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303236 ENTREZGENE
  ENST00000303236.9 UniProtKB/Swiss-Prot
  ENST00000652099.1 UniProtKB/TrEMBL
  ENST00000652423.1 UniProtKB/TrEMBL
  ENST00000682103.1 UniProtKB/TrEMBL
  ENST00000682603.1 UniProtKB/TrEMBL
  ENST00000682844.1 UniProtKB/TrEMBL
  ENST00000682892 ENTREZGENE
  ENST00000682892.1 UniProtKB/TrEMBL
  ENST00000684455.1 UniProtKB/TrEMBL
  ENST00000684642 ENTREZGENE
  ENST00000684642.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172071 GTEx
HGNC ID HGNC:3255 ENTREZGENE
Human Proteome Map EIF2AK3 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
  Quinoprotein_ADH-like_supfam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9451 ENTREZGENE
OMIM 604032 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE EIF2-ALPHA KINASE -RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27687 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494BZR8_HUMAN UniProtKB/TrEMBL
  A0A494C186_HUMAN UniProtKB/TrEMBL
  A0A6C0SHA8_HUMAN UniProtKB/TrEMBL
  A0A6C0SHM7_HUMAN UniProtKB/TrEMBL
  A0A804HI66_HUMAN UniProtKB/TrEMBL
  A0A804HIT4 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJ50_HUMAN UniProtKB/TrEMBL
  A0A804HJV6_HUMAN UniProtKB/TrEMBL
  A0A804HL08_HUMAN UniProtKB/TrEMBL
  A0A804HLC2_HUMAN UniProtKB/TrEMBL
  A0AVH1 ENTREZGENE
  A0AVH2 ENTREZGENE
  B2RCU9 ENTREZGENE
  B3KY45 ENTREZGENE, UniProtKB/TrEMBL
  E2AK3_HUMAN UniProtKB/Swiss-Prot
  O95846 ENTREZGENE
  Q53QY0 ENTREZGENE
  Q53SB1 ENTREZGENE
  Q68DI6 ENTREZGENE, UniProtKB/TrEMBL
  Q9NZJ5 ENTREZGENE
UniProt Secondary A0AVH1 UniProtKB/Swiss-Prot
  A0AVH2 UniProtKB/Swiss-Prot
  B2RCU9 UniProtKB/Swiss-Prot
  O95846 UniProtKB/Swiss-Prot
  Q53QY0 UniProtKB/Swiss-Prot
  Q53SB1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 EIF2AK3  eukaryotic translation initiation factor 2 alpha kinase 3    eukaryotic translation initiation factor 2-alpha kinase 3  Symbol and/or name change 5135510 APPROVED