JMJD1C (jumonji domain containing 1C) - Rat Genome Database

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Gene: JMJD1C (jumonji domain containing 1C) Homo sapiens
Analyze
Symbol: JMJD1C
Name: jumonji domain containing 1C
RGD ID: 1320591
HGNC Page HGNC:12313
Description: Predicted to enable chromatin DNA binding activity; histone H3K9 demethylase activity; and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within epithelial cell morphogenesis; male germ-line stem cell population maintenance; and seminiferous tubule development. Predicted to be located in nucleoplasm. Predicted to be part of histone deacetylase complex. Predicted to be active in chromatin.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp761F0118; FLJ14374; jumonji domain-containing protein 1C; KDM3C; KIAA1380; probable JmjC domain-containing histone demethylation protein 2C; RP11-10C13.2; thyroid hormone receptor interactor 8; thyroid receptor interacting protein 8; thyroid receptor-interacting protein 8; TR-interacting protein 8; TRIP-8; TRIP8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381063,167,225 - 63,521,890 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1063,167,221 - 63,521,850 (-)Ensemblhg38GRCh38
GRCh371064,926,985 - 65,281,650 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361064,596,991 - 64,895,728 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341064,597,126 - 64,698,953NCBI
Celera1058,194,301 - 58,493,237 (-)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1058,918,626 - 59,217,348 (-)NCBIHuRef
CHM1_11065,209,036 - 65,507,724 (-)NCBICHM1_1
T2T-CHM13v2.01064,025,342 - 64,380,031 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
geldanamycin  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
glafenine  (ISO)
GSK-J4  (EXP)
hexadecanoic acid  (EXP)
hydralazine  (EXP)
ketamine  (ISO)
lead(0)  (EXP)
mercury dichloride  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
nefazodone  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thiram  (EXP)
topotecan  (ISO)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal aortic arch morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality of T cell physiology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the pharynx  (IAGP)
Abnormality of the tonsils  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of thrombocytes  (IAGP)
Acne  (IAGP)
Aganglionic megacolon  (IAGP)
Anal atresia  (IAGP)
Anorectal anomaly  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Arachnodactyly  (IAGP)
Arrhinencephaly  (IAGP)
Arthritis  (IAGP)
Asthma  (IAGP)
Atelectasis  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autoimmunity  (IAGP)
Bipolar affective disorder  (IAGP)
Bowel incontinence  (IAGP)
Bulbous nose  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Cholelithiasis  (IAGP)
Chronic otitis media  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Cleft palate  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Corneal neovascularization  (IAGP)
Cryptorchidism  (IAGP)
Depression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Foot polydactyly  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hepatoblastoma  (IAGP)
Hydrocephalus  (IAGP)
Hypernasal speech  (IAGP)
Hypertelorism  (IAGP)
Hypertensive crisis  (IAGP)
Hyperthyroidism  (IAGP)
Hypocalcemia  (IAGP)
Hypoparathyroidism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Laryngomalacia  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Meningocele  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple renal cysts  (IAGP)
Multiple suture craniosynostosis  (IAGP)
Myalgia  (IAGP)
Narrow mouth  (IAGP)
Obesity  (IAGP)
Optic atrophy  (IAGP)
Overfolded helix  (IAGP)
Parkinsonism  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Platybasia  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polyhydramnios  (IAGP)
Posterior embryotoxon  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Purpura  (IAGP)
Renal hypoplasia  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seborrheic dermatitis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Small earlobe  (IAGP)
Specific learning disability  (IAGP)
Spina bifida  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Tetany  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Tricuspid atresia  (IAGP)
Truncus arteriosus  (IAGP)
Turricephaly  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Varicose veins  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7776974   PMID:8889548   PMID:10718198   PMID:11500849   PMID:12477932   PMID:14533015   PMID:14702039   PMID:16385451   PMID:17290275   PMID:17353003   PMID:17353931   PMID:17549425  
PMID:17921420   PMID:18302142   PMID:18940312   PMID:19596656   PMID:19820697   PMID:19936222   PMID:20379614   PMID:20526338   PMID:20648472   PMID:20686565   PMID:21873635   PMID:21900206  
PMID:22001757   PMID:22139419   PMID:22354554   PMID:22423221   PMID:22829776   PMID:22890011   PMID:22936694   PMID:23263863   PMID:23414517   PMID:23455924   PMID:23593242   PMID:23969696  
PMID:24026423   PMID:24097068   PMID:24161943   PMID:24240613   PMID:24304913   PMID:24318875   PMID:24348429   PMID:24501218   PMID:24823311   PMID:24896186   PMID:25201988   PMID:25254322  
PMID:25452129   PMID:25582194   PMID:25609649   PMID:25714495   PMID:26167880   PMID:26181491   PMID:26414697   PMID:26494788   PMID:26519038   PMID:26584805   PMID:26593974   PMID:26608785  
PMID:26687681   PMID:26878175   PMID:26910538   PMID:26912792   PMID:26972000   PMID:26987799   PMID:27064872   PMID:27437069   PMID:28406950   PMID:28611094   PMID:28611215   PMID:28794006  
PMID:29180619   PMID:29222425   PMID:29395067   PMID:29507755   PMID:29568061   PMID:29656893   PMID:29804699   PMID:30021884   PMID:30415952   PMID:30585729   PMID:30622285   PMID:30737378  
PMID:30804394   PMID:30804502   PMID:30997501   PMID:31076406   PMID:31177093   PMID:31954878   PMID:32034158   PMID:32344865   PMID:32538781   PMID:32788342   PMID:32908313   PMID:32971831  
PMID:33075016   PMID:33397691   PMID:33503405   PMID:33591602   PMID:33640491   PMID:33722704   PMID:33729478   PMID:33961781   PMID:34011540   PMID:34189442   PMID:34349018   PMID:34475205  
PMID:34586733   PMID:34672954   PMID:34702444   PMID:34709266   PMID:34795231   PMID:35016035   PMID:35140242   PMID:35198878   PMID:35271311   PMID:35439318   PMID:35468015   PMID:35777757  
PMID:35944360   PMID:36089195   PMID:36129980   PMID:36373674   PMID:36424410   PMID:36429088   PMID:36613751   PMID:36897256   PMID:37689310   PMID:37827155   PMID:38280479   PMID:38356061  
PMID:38360978   PMID:38650133   PMID:38777146   PMID:39117622   PMID:39231216   PMID:39617063   PMID:40425833   PMID:40437099  


Genomics

Comparative Map Data
JMJD1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381063,167,225 - 63,521,890 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1063,167,221 - 63,521,850 (-)Ensemblhg38GRCh38
GRCh371064,926,985 - 65,281,650 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361064,596,991 - 64,895,728 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341064,597,126 - 64,698,953NCBI
Celera1058,194,301 - 58,493,237 (-)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1058,918,626 - 59,217,348 (-)NCBIHuRef
CHM1_11065,209,036 - 65,507,724 (-)NCBICHM1_1
T2T-CHM13v2.01064,025,342 - 64,380,031 (-)NCBIT2T-CHM13v2.0
Jmjd1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391066,932,189 - 67,092,105 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1066,931,904 - 67,092,105 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381067,096,351 - 67,256,326 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1067,096,125 - 67,256,326 (+)Ensemblmm10GRCm38
MGSCv371066,590,006 - 66,719,074 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361066,522,615 - 66,651,683 (+)NCBIMGSCv36mm8
Celera1068,219,302 - 68,348,326 (+)NCBICelera
Cytogenetic Map10B5.1NCBI
cM Map1034.85NCBI
Jmjd1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82021,330,990 - 21,508,580 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2021,330,990 - 21,461,916 (-)EnsemblGRCr8
mRatBN7.22021,332,147 - 21,494,220 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2021,332,147 - 21,463,122 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2022,056,316 - 22,187,053 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02021,409,384 - 21,540,123 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02021,886,509 - 22,016,928 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02022,751,743 - 22,914,080 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2022,751,743 - 22,882,672 (-)Ensemblrn6Rnor6.0
Rnor_5.02024,842,479 - 25,004,503 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42022,151,774 - 22,283,264 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2022,690,312 - 22,820,989 (-)NCBICelera
RGSC_v3.12022,165,991 - 22,172,529 (-)NCBI
Cytogenetic Map20p11NCBI
Jmjd1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542516,344,141 - 16,493,527 (-)Ensembl
ChiLan1.0NW_00495542516,343,314 - 16,552,552 (-)NCBIChiLan1.0ChiLan1.0
JMJD1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2875,352,260 - 75,709,401 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11075,357,583 - 75,712,193 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01059,674,227 - 60,028,763 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11061,999,571 - 62,299,260 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1061,999,571 - 62,295,332 (-)EnsemblpanPan2panpan1.1
JMJD1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1415,006,670 - 15,261,139 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl415,007,508 - 15,261,691 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha415,223,903 - 15,546,739 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0415,270,914 - 15,594,207 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl415,270,914 - 15,526,382 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1415,253,149 - 15,575,965 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0415,378,219 - 15,705,287 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0415,733,933 - 16,056,845 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Jmjd1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721365,839,313 - 66,071,363 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367531,414,240 - 1,645,161 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049367531,413,935 - 1,645,974 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JMJD1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1466,640,849 - 66,920,324 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11466,640,845 - 66,966,911 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21471,877,693 - 71,964,824 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JMJD1C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1967,913,062 - 68,135,555 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604828,656,568 - 29,020,569 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jmjd1c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624791365,726 - 588,870 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624791306,827 - 589,134 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in JMJD1C
1448 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032776.3(JMJD1C):c.2377C>T (p.Pro793Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000552476] Chr10:63213790 [GRCh38]
Chr10:64973550 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6702T>C (p.Asn2234=) single nucleotide variant Early myoclonic encephalopathy [RCV000525568]|JMJD1C-related disorder [RCV003960283] Chr10:63186252 [GRCh38]
Chr10:64946012 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1392G>A (p.Ser464=) single nucleotide variant Early myoclonic encephalopathy [RCV000532890]|JMJD1C-related disorder [RCV003905354]|not provided [RCV003419933] Chr10:63214775 [GRCh38]
Chr10:64974535 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.1379T>C (p.Met460Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000533006] Chr10:63214788 [GRCh38]
Chr10:64974548 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2322A>C (p.Leu774Phe) single nucleotide variant Early myoclonic encephalopathy [RCV000542266] Chr10:63213845 [GRCh38]
Chr10:64973605 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2246T>G (p.Leu749Ter) single nucleotide variant Early myoclonic encephalopathy [RCV000549285] Chr10:63213921 [GRCh38]
Chr10:64973681 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4871C>T (p.Ser1624Phe) single nucleotide variant Early myoclonic encephalopathy [RCV000552869] Chr10:63206798 [GRCh38]
Chr10:64966558 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6522G>A (p.Lys2174=) single nucleotide variant Early myoclonic encephalopathy [RCV000547488] Chr10:63189216 [GRCh38]
Chr10:64948976 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5122C>G (p.Leu1708Val) single nucleotide variant Early myoclonic encephalopathy [RCV000545832] Chr10:63200630 [GRCh38]
Chr10:64960390 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3741A>T (p.Ser1247=) single nucleotide variant Early myoclonic encephalopathy [RCV000543670] Chr10:63207928 [GRCh38]
Chr10:64967688 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4569C>A (p.Ile1523=) single nucleotide variant Early myoclonic encephalopathy [RCV001494440] Chr10:63207100 [GRCh38]
Chr10:64966860 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4380T>C (p.Ser1460=) single nucleotide variant Early myoclonic encephalopathy [RCV000551200]|not provided [RCV003884603] Chr10:63207289 [GRCh38]
Chr10:64967049 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3295A>G (p.Asn1099Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000529165] Chr10:63208374 [GRCh38]
Chr10:64968134 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000544488]|JMJD1C-related disorder [RCV003905355]|not provided [RCV004705653] Chr10:63465607 [GRCh38]
Chr10:65225367 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.1529T>C (p.Ile510Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000543090] Chr10:63214638 [GRCh38]
Chr10:64974398 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1387C>T (p.His463Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV000544496] Chr10:63214780 [GRCh38]
Chr10:64974540 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.814G>A (p.Ala272Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000546394]|not provided [RCV004718716] Chr10:63215561 [GRCh38]
Chr10:64975321 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.5589T>C (p.Cys1863=) single nucleotide variant Early myoclonic encephalopathy [RCV000529726] Chr10:63197466 [GRCh38]
Chr10:64957226 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1112A>G (p.Asn371Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000524836] Chr10:63215055 [GRCh38]
Chr10:64974815 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.4866T>C (p.Tyr1622=) single nucleotide variant Early myoclonic encephalopathy [RCV000542656]|JMJD1C-related disorder [RCV003915517] Chr10:63206803 [GRCh38]
Chr10:64966563 [GRCh37]
Chr10:10q21.3		 likely benign
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_032776.2(JMJD1C):c.2048G>A (p.Arg683Lys) single nucleotide variant Malignant melanoma [RCV000068999] Chr10:63214119 [GRCh38]
Chr10:64973879 [GRCh37]
Chr10:64643885 [NCBI36]
Chr10:10q21.3		 not provided
NM_032776.2(JMJD1C):c.189T>A (p.Asp63Glu) single nucleotide variant Malignant melanoma [RCV000069000] Chr10:63380462 [GRCh38]
Chr10:65140222 [GRCh37]
Chr10:64810228 [NCBI36]
Chr10:10q21.3		 not provided
NM_001282948.1(JMJD1C):c.5317-14T>C single nucleotide variant Lung cancer [RCV000109250] Chr10:63193165 [GRCh38]
Chr10:64952925 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1067A>C (p.Glu356Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001303749] Chr10:63215100 [GRCh38]
Chr10:64974860 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1345C>T (p.Arg449Trp) single nucleotide variant Early myoclonic encephalopathy [RCV001367803]|not provided [RCV003416277] Chr10:63214822 [GRCh38]
Chr10:64974582 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1169A>G (p.Asp390Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001302612] Chr10:63214998 [GRCh38]
Chr10:64974758 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2809A>G (p.Lys937Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001302638] Chr10:63209121 [GRCh38]
Chr10:64968881 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2329A>G (p.Ile777Val) single nucleotide variant Early myoclonic encephalopathy [RCV001302445] Chr10:63213838 [GRCh38]
Chr10:64973598 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4732A>G (p.Ile1578Val) single nucleotide variant Early myoclonic encephalopathy [RCV001348572] Chr10:63206937 [GRCh38]
Chr10:64966697 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3933T>C (p.Ser1311=) single nucleotide variant Early myoclonic encephalopathy [RCV001303424] Chr10:63207736 [GRCh38]
Chr10:64967496 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.6410A>T (p.Glu2137Val) single nucleotide variant not specified [RCV000256410] Chr10:63189328 [GRCh38]
Chr10:64949088 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3(chr10:63264665-63380483)x1 copy number loss See cases [RCV000135685] Chr10:63264665..63380483 [GRCh38]
Chr10:65024425..65140243 [GRCh37]
Chr10:64694431..64810249 [NCBI36]
Chr10:10q21.3		 likely benign
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3 copy number gain See cases [RCV000141179] Chr10:55287177..67558442 [GRCh38]
Chr10:57046937..69318200 [GRCh37]
Chr10:56716943..68988206 [NCBI36]
Chr10:10q21.1-21.3		 pathogenic
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys) single nucleotide variant Early myoclonic encephalopathy [RCV000543225]|JMJD1C-related disorder [RCV003915518]|not provided [RCV003419936] Chr10:63168077 [GRCh38]
Chr10:64927837 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6527G>A (p.Ser2176Asn) single nucleotide variant Early myoclonic encephalopathy [RCV000525793] Chr10:63189211 [GRCh38]
Chr10:64948971 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.966A>G (p.Pro322=) single nucleotide variant Early myoclonic encephalopathy [RCV000545055]|not provided [RCV004707318] Chr10:63215312 [GRCh38]
Chr10:64975072 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3157G>C (p.Ala1053Pro) single nucleotide variant Early myoclonic encephalopathy [RCV000545268]|not specified [RCV004023828] Chr10:63208512 [GRCh38]
Chr10:64968272 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1573A>G (p.Asn525Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000546288] Chr10:63214594 [GRCh38]
Chr10:64974354 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4386G>C (p.Lys1462Asn) single nucleotide variant Early myoclonic encephalopathy [RCV000524932]|JMJD1C-related disorder [RCV003915516] Chr10:63207283 [GRCh38]
Chr10:64967043 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5993A>C (p.Asn1998Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000548879] Chr10:63193021 [GRCh38]
Chr10:64952781 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.45G>A (p.Leu15=) single nucleotide variant Early myoclonic encephalopathy [RCV000528147] Chr10:63465618 [GRCh38]
Chr10:65225378 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.488C>T (p.Pro163Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000688893]|not provided [RCV000258028] Chr10:63219943 [GRCh38]
Chr10:64979703 [GRCh37]
Chr10:10q21.3		 uncertain significance|not provided
NM_032776.3(JMJD1C):c.2832A>G (p.Pro944=) single nucleotide variant Early myoclonic encephalopathy [RCV000530508]|not provided [RCV003419935] Chr10:63209098 [GRCh38]
Chr10:64968858 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.1103G>A (p.Arg368Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000555467]|not provided [RCV003419932] Chr10:63215064 [GRCh38]
Chr10:64974824 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.7576G>C (p.Ala2526Pro) single nucleotide variant not provided [RCV003314230] Chr10:63168092 [GRCh38]
Chr10:64927852 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2579A>G (p.Tyr860Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001083767]|not provided [RCV000527308]|not specified [RCV004023827] Chr10:63213588 [GRCh38]
Chr10:64973348 [GRCh37]
Chr10:10q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032776.3(JMJD1C):c.447+7A>C single nucleotide variant Early myoclonic encephalopathy [RCV000549878]|JMJD1C-related disorder [RCV003925616]|not provided [RCV004718708] Chr10:63264644 [GRCh38]
Chr10:65024404 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1703A>T (p.Asp568Val) single nucleotide variant Early myoclonic encephalopathy [RCV000550628]|not provided [RCV004707317] Chr10:63214464 [GRCh38]
Chr10:64974224 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.663C>A (p.Ile221=) single nucleotide variant Early myoclonic encephalopathy [RCV000551824] Chr10:63217222 [GRCh38]
Chr10:64976982 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.2695-20TTGTT[4] microsatellite Early myoclonic encephalopathy [RCV000552224] Chr10:63209240..63209241 [GRCh38]
Chr10:64969000..64969001 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2313A>G (p.Gln771=) single nucleotide variant Early myoclonic encephalopathy [RCV000527525] Chr10:63213854 [GRCh38]
Chr10:64973614 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val) single nucleotide variant Early myoclonic encephalopathy [RCV000528886]|not provided [RCV004718705] Chr10:63214396 [GRCh38]
Chr10:63214396..63214397 [GRCh38]
Chr10:64974156 [GRCh37]
Chr10:64974156..64974157 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4180A>T (p.Thr1394Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000551405]|not provided [RCV004705651] Chr10:63207489 [GRCh38]
Chr10:64967249 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3178A>G (p.Lys1060Glu) single nucleotide variant Early myoclonic encephalopathy [RCV000555400] Chr10:63208491 [GRCh38]
Chr10:64968251 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu) single nucleotide variant Early myoclonic encephalopathy [RCV000533024]|not provided [RCV004718713] Chr10:63177741 [GRCh38]
Chr10:64937501 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1391C>T (p.Ser464Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000554786]|not specified [RCV004927626] Chr10:63214776 [GRCh38]
Chr10:64974536 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.6807C>T (p.Asp2269=) single nucleotide variant Early myoclonic encephalopathy [RCV001393093] Chr10:63185586 [GRCh38]
Chr10:64945346 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4825A>G (p.Lys1609Glu) single nucleotide variant Early myoclonic encephalopathy [RCV000532510]|not specified [RCV004927627] Chr10:63206844 [GRCh38]
Chr10:64966604 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4665C>T (p.Leu1555=) single nucleotide variant Early myoclonic encephalopathy [RCV002528322] Chr10:63207004 [GRCh38]
Chr10:64966764 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.959G>A (p.Ser320Asn) single nucleotide variant Early myoclonic encephalopathy [RCV000534846] Chr10:63215319 [GRCh38]
Chr10:64975079 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His) single nucleotide variant Early myoclonic encephalopathy [RCV000539679]|not provided [RCV001824817] Chr10:63215047 [GRCh38]
Chr10:64974807 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance|not provided
NM_032776.3(JMJD1C):c.6570+3G>A single nucleotide variant Early myoclonic encephalopathy [RCV000540498]|not provided [RCV003227782] Chr10:63189165 [GRCh38]
Chr10:64948925 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.1010G>A (p.Arg337Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000540607] Chr10:63215268 [GRCh38]
Chr10:64975028 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3951T>C (p.Ser1317=) single nucleotide variant Early myoclonic encephalopathy [RCV000558346]|not provided [RCV004718707] Chr10:63207718 [GRCh38]
Chr10:64967478 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1682C>G (p.Ser561Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000535865]|not provided [RCV004718704] Chr10:63214485 [GRCh38]
Chr10:64974245 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2628T>C (p.Leu876=) single nucleotide variant Early myoclonic encephalopathy [RCV000542054]|not provided [RCV004718706] Chr10:63213539 [GRCh38]
Chr10:64973299 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.3720T>A (p.Ala1240=) single nucleotide variant Early myoclonic encephalopathy [RCV000533508]|not provided [RCV003992317] Chr10:63207949 [GRCh38]
Chr10:64967709 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4358C>T (p.Thr1453Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000536427] Chr10:63207311 [GRCh38]
Chr10:64967071 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3984= (p.Arg1328=) single nucleotide variant Early myoclonic encephalopathy [RCV000536670] Chr10:63207685 [GRCh38]
Chr10:64967445 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.5075-5del deletion Early myoclonic encephalopathy [RCV000531072] Chr10:63200682 [GRCh38]
Chr10:64960442 [GRCh37]
Chr10:10q21.3		 benign|uncertain significance
NM_032776.3(JMJD1C):c.699C>T (p.Val233=) single nucleotide variant Early myoclonic encephalopathy [RCV000553592]|JMJD1C-related disorder [RCV003935417]|not provided [RCV004718712] Chr10:63215676 [GRCh38]
Chr10:64975436 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.7593G>A (p.Glu2531=) single nucleotide variant Early myoclonic encephalopathy [RCV000553392]|not provided [RCV004718714] Chr10:63168075 [GRCh38]
Chr10:64927835 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_032776.3(JMJD1C):c.759T>C (p.Gly253=) single nucleotide variant Early myoclonic encephalopathy [RCV000531689]|not provided [RCV004718715] Chr10:63215616 [GRCh38]
Chr10:64975376 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_032776.3(JMJD1C):c.6948G>A (p.Leu2316=) single nucleotide variant Early myoclonic encephalopathy [RCV000533236]|JMJD1C-related disorder [RCV003905356]|not provided [RCV004718711] Chr10:63184621 [GRCh38]
Chr10:64944381 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4611A>G (p.Gln1537=) single nucleotide variant Early myoclonic encephalopathy [RCV000538300] Chr10:63207058 [GRCh38]
Chr10:64966818 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+10_168+11delinsCG indel Early myoclonic encephalopathy [RCV000556415] Chr10:63465484..63465485 [GRCh38]
Chr10:65225244..65225245 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.800A>G (p.Asn267Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000556519] Chr10:63215575 [GRCh38]
Chr10:64975335 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6989T>C (p.Ile2330Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000538835] Chr10:63183542 [GRCh38]
Chr10:64943302 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3308A>G (p.Asn1103Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000543923] Chr10:63208361 [GRCh38]
Chr10:64968121 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4286C>T (p.Ser1429Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000556999]|not provided [RCV004705652] Chr10:63207383 [GRCh38]
Chr10:64967143 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000534501]|not provided [RCV003419934] Chr10:63214218 [GRCh38]
Chr10:64973978 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1544A>G (p.Asp515Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000557778]|JMJD1C-related disorder [RCV003915515] Chr10:63214623 [GRCh38]
Chr10:64974383 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3823A>T (p.Met1275Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000635165] Chr10:63207846 [GRCh38]
Chr10:64967606 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.5964C>A (p.Ser1988Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000635159] Chr10:63193050 [GRCh38]
Chr10:64952810 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3553A>C (p.Ser1185Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000635160] Chr10:63208116 [GRCh38]
Chr10:64967876 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3093T>G (p.Asp1031Glu) single nucleotide variant Early myoclonic encephalopathy [RCV000635162]|not specified [RCV004927630] Chr10:63208576 [GRCh38]
Chr10:64968336 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1133G>C (p.Ser378Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000635163] Chr10:63215034 [GRCh38]
Chr10:64974794 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6136G>C (p.Glu2046Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000635167]|not specified [RCV004025455] Chr10:63191049 [GRCh38]
Chr10:64950809 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2347A>C (p.Thr783Pro) single nucleotide variant Early myoclonic encephalopathy [RCV000635168] Chr10:63213820 [GRCh38]
Chr10:64973580 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6487T>G (p.Cys2163Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000635169] Chr10:63189251 [GRCh38]
Chr10:64949011 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4763C>A (p.Ala1588Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000635170] Chr10:63206906 [GRCh38]
Chr10:64966666 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1611G>A (p.Met537Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000635171] Chr10:63214556 [GRCh38]
Chr10:64974316 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3265C>T (p.Pro1089Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000635172]|not specified [RCV004025456] Chr10:63208404 [GRCh38]
Chr10:64968164 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1900C>T (p.His634Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV000635173]|not specified [RCV004025457] Chr10:63214267 [GRCh38]
Chr10:64974027 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2885C>T (p.Ala962Val) single nucleotide variant Early myoclonic encephalopathy [RCV000635174] Chr10:63208784 [GRCh38]
Chr10:64968544 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4102T>A (p.Ser1368Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000635176] Chr10:63207567 [GRCh38]
Chr10:64967327 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6093C>T (p.Thr2031=) single nucleotide variant Early myoclonic encephalopathy [RCV000635184] Chr10:63191092 [GRCh38]
Chr10:64950852 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.679-5A>T single nucleotide variant Early myoclonic encephalopathy [RCV000540283] Chr10:63215701 [GRCh38]
Chr10:64975461 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000560298]|not provided [RCV004718709] Chr10:63193075 [GRCh38]
Chr10:63193075..63193076 [GRCh38]
Chr10:64952835 [GRCh37]
Chr10:64952835..64952836 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1329_1331del (p.His443_Glu444delinsGln) deletion Early myoclonic encephalopathy [RCV000554560] Chr10:63214836..63214838 [GRCh38]
Chr10:64974596..64974598 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=) single nucleotide variant Early myoclonic encephalopathy [RCV000559734] Chr10:63208104 [GRCh38]
Chr10:64967864 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.647T>A (p.Phe216Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV000537314] Chr10:63217238 [GRCh38]
Chr10:64976998 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5396T>C (p.Ile1799Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000560499] Chr10:63198608 [GRCh38]
Chr10:64958368 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5940G>A (p.Pro1980=) single nucleotide variant Early myoclonic encephalopathy [RCV000534103]|not provided [RCV004718710] Chr10:63193074 [GRCh38]
Chr10:64952834 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4410T>C (p.Ser1470=) single nucleotide variant Early myoclonic encephalopathy [RCV000539668] Chr10:63207259 [GRCh38]
Chr10:64967019 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000536091]|JMJD1C-related disorder [RCV003979962]|not provided [RCV002060301] Chr10:63214620 [GRCh38]
Chr10:63214620..63214621 [GRCh38]
Chr10:64974380 [GRCh37]
Chr10:64974380..64974381 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.6112G>C (p.Glu2038Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000558974]|not provided [RCV001529092] Chr10:63191073 [GRCh38]
Chr10:64950833 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.5533A>C (p.Met1845Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000635158] Chr10:63197522 [GRCh38]
Chr10:64957282 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3593G>A (p.Arg1198His) single nucleotide variant Early myoclonic encephalopathy [RCV000635164] Chr10:63208076 [GRCh38]
Chr10:64967836 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.238A>G (p.Thr80Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000635177] Chr10:63380413 [GRCh38]
Chr10:65140173 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6280A>G (p.Met2094Val) single nucleotide variant Early myoclonic encephalopathy [RCV000635157]|not specified [RCV004927629] Chr10:63190905 [GRCh38]
Chr10:64950665 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3473_3478del (p.Gly1158_Leu1159del) deletion Early myoclonic encephalopathy [RCV000635178]|JMJD1C-related disorder [RCV003980229] Chr10:63208191..63208196 [GRCh38]
Chr10:64967951..64967956 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1608A>G (p.Lys536=) single nucleotide variant Early myoclonic encephalopathy [RCV000635180] Chr10:63214559 [GRCh38]
Chr10:64974319 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1910A>G (p.Lys637Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000635181] Chr10:63214257 [GRCh38]
Chr10:64974017 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2037T>C (p.His679=) single nucleotide variant Early myoclonic encephalopathy [RCV000635182]|not provided [RCV003420105] Chr10:63214130 [GRCh38]
Chr10:64973890 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.4464A>G (p.Ala1488=) single nucleotide variant Early myoclonic encephalopathy [RCV000635183] Chr10:63207205 [GRCh38]
Chr10:64966965 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.72T>C (p.Arg24=) single nucleotide variant Early myoclonic encephalopathy [RCV000635185] Chr10:63465591 [GRCh38]
Chr10:65225351 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1868T>C (p.Ile623Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000635186]|JMJD1C-related disorder [RCV003980230]|not provided [RCV004705737] Chr10:63214299 [GRCh38]
Chr10:64974059 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2538A>G (p.Gly846=) single nucleotide variant Early myoclonic encephalopathy [RCV000635187]|not provided [RCV004808813] Chr10:63213629 [GRCh38]
Chr10:64973389 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6246A>G (p.Thr2082=) single nucleotide variant Early myoclonic encephalopathy [RCV000635188] Chr10:63190939 [GRCh38]
Chr10:64950699 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.159G>A (p.Pro53=) single nucleotide variant Early myoclonic encephalopathy [RCV000635190] Chr10:63465504 [GRCh38]
Chr10:65225264 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2133T>C (p.Phe711=) single nucleotide variant Early myoclonic encephalopathy [RCV000635191] Chr10:63214034 [GRCh38]
Chr10:64973794 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6858A>C (p.Pro2286=) single nucleotide variant Early myoclonic encephalopathy [RCV000635193] Chr10:63184711 [GRCh38]
Chr10:64944471 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3418A>G (p.Ile1140Val) single nucleotide variant Early myoclonic encephalopathy [RCV000700380] Chr10:63208251 [GRCh38]
Chr10:64968011 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6427A>G (p.Ile2143Val) single nucleotide variant Early myoclonic encephalopathy [RCV000701651]|not specified [RCV004026565] Chr10:63189311 [GRCh38]
Chr10:64949071 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.2185A>G (p.Ile729Val) single nucleotide variant Early myoclonic encephalopathy [RCV000688512] Chr10:63213982 [GRCh38]
Chr10:64973742 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3248C>T (p.Ser1083Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000698699] Chr10:63208421 [GRCh38]
Chr10:64968181 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1399C>G (p.Gln467Glu) single nucleotide variant Early myoclonic encephalopathy [RCV000686086] Chr10:63214768 [GRCh38]
Chr10:64974528 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1166T>C (p.Ile389Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000700874]|not specified [RCV004026531] Chr10:63215001 [GRCh38]
Chr10:64974761 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.2637_2638delinsGC (p.Ser880Pro) indel Early myoclonic encephalopathy [RCV000694734] Chr10:63213529..63213530 [GRCh38]
Chr10:64973289..64973290 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4808T>C (p.Ile1603Thr) single nucleotide variant Early myoclonic encephalopathy [RCV000704491] Chr10:63206861 [GRCh38]
Chr10:64966621 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.2300G>C (p.Gly767Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000707220] Chr10:63213867 [GRCh38]
Chr10:64973627 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000693272]|Hepatoblastoma [RCV001843540] Chr10:63189343 [GRCh38]
Chr10:64949103 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.58G>A (p.Gly20Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000690566]|not specified [RCV004025059] Chr10:63465605 [GRCh38]
Chr10:65225365 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3215G>A (p.Arg1072His) single nucleotide variant Early myoclonic encephalopathy [RCV000707438] Chr10:63208454 [GRCh38]
Chr10:64968214 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5945C>G (p.Ser1982Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000687938] Chr10:63193069 [GRCh38]
Chr10:64952829 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.532del (p.Val178fs) deletion Early myoclonic encephalopathy [RCV000704902] Chr10:63219899 [GRCh38]
Chr10:64979659 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7303C>T (p.Leu2435Phe) single nucleotide variant Early myoclonic encephalopathy [RCV000693692] Chr10:63176395 [GRCh38]
Chr10:64936155 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1732A>C (p.Ser578Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000691017] Chr10:63214435 [GRCh38]
Chr10:64974195 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6308G>A (p.Arg2103Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000688769]|not specified [RCV004927632] Chr10:63189430 [GRCh38]
Chr10:64949190 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3271A>C (p.Ser1091Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000699659] Chr10:63208398 [GRCh38]
Chr10:64968158 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4567A>T (p.Ile1523Phe) single nucleotide variant Early myoclonic encephalopathy [RCV000703820] Chr10:63207102 [GRCh38]
Chr10:64966862 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1789G>A (p.Val597Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000706521] Chr10:63214378 [GRCh38]
Chr10:64974138 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5400G>T (p.Glu1800Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000706579] Chr10:63198604 [GRCh38]
Chr10:64958364 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3671A>G (p.Tyr1224Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000694852] Chr10:63207998 [GRCh38]
Chr10:64967758 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2895A>T (p.Glu965Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000689936]|JMJD1C-related disorder [RCV003965439]|not provided [RCV004707404]|not specified [RCV004026343] Chr10:63208774 [GRCh38]
Chr10:64968534 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.7612G>C (p.Glu2538Gln) single nucleotide variant Early myoclonic encephalopathy [RCV000695120] Chr10:63168056 [GRCh38]
Chr10:64927816 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4169C>T (p.Thr1390Met) single nucleotide variant Early myoclonic encephalopathy [RCV000688005] Chr10:63207500 [GRCh38]
Chr10:64967260 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3922C>T (p.Arg1308Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000707363] Chr10:63207747 [GRCh38]
Chr10:64967507 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4094A>G (p.His1365Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000695536] Chr10:63207575 [GRCh38]
Chr10:64967335 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4201T>C (p.Ser1401Pro) single nucleotide variant Early myoclonic encephalopathy [RCV000695874] Chr10:63207468 [GRCh38]
Chr10:64967228 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1634A>G (p.Lys545Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000705644] Chr10:63214533 [GRCh38]
Chr10:64974293 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3740C>T (p.Ser1247Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000703357] Chr10:63207929 [GRCh38]
Chr10:64967689 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.478A>G (p.Arg160Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000806129]|not specified [RCV004028234] Chr10:63219953 [GRCh38]
Chr10:64979713 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:64993101-65253700)x3 copy number gain not provided [RCV000737156] Chr10:64993101..65253700 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_032776.3(JMJD1C):c.462C>T (p.Ser154=) single nucleotide variant Early myoclonic encephalopathy [RCV001492350] Chr10:63219969 [GRCh38]
Chr10:64979729 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3729A>T (p.Lys1243Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001055316] Chr10:63207940 [GRCh38]
Chr10:64967700 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5497A>G (p.Ile1833Val) single nucleotide variant Early myoclonic encephalopathy [RCV001055730]|not specified [RCV004031766] Chr10:63197558 [GRCh38]
Chr10:64957318 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4G>A (p.Ala2Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001055773] Chr10:63465659 [GRCh38]
Chr10:65225419 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4030A>G (p.Lys1344Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001056419] Chr10:63207639 [GRCh38]
Chr10:64967399 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.80_81delinsAT (p.Arg27His) indel Early myoclonic encephalopathy [RCV001057613] Chr10:63465582..63465583 [GRCh38]
Chr10:65225342..65225343 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3303G>C (p.Val1101=) single nucleotide variant Early myoclonic encephalopathy [RCV002065448] Chr10:63208366 [GRCh38]
Chr10:64968126 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4488T>C (p.Ser1496=) single nucleotide variant Early myoclonic encephalopathy [RCV001427853] Chr10:63207181 [GRCh38]
Chr10:64966941 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7114T>C (p.Leu2372=) single nucleotide variant not provided [RCV000906764] Chr10:63177827 [GRCh38]
Chr10:64937587 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+9_168+11delinsACG indel Early myoclonic encephalopathy [RCV000899239] Chr10:63465484..63465486 [GRCh38]
Chr10:65225244..65225246 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.561T>C (p.Tyr187=) single nucleotide variant not provided [RCV000921672] Chr10:63217324 [GRCh38]
Chr10:64977084 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5460A>G (p.Glu1820=) single nucleotide variant Early myoclonic encephalopathy [RCV000921143] Chr10:63198544 [GRCh38]
Chr10:64958304 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6292-3T>C single nucleotide variant Early myoclonic encephalopathy [RCV000950560]|not provided [RCV003413752] Chr10:63189449 [GRCh38]
Chr10:64949209 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.6834C>T (p.Tyr2278=) single nucleotide variant Early myoclonic encephalopathy [RCV000945987]|not provided [RCV005243429] Chr10:63184735 [GRCh38]
Chr10:64944495 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.4137T>C (p.Ser1379=) single nucleotide variant Early myoclonic encephalopathy [RCV000904620] Chr10:63207532 [GRCh38]
Chr10:64967292 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.3486G>A (p.Lys1162=) single nucleotide variant Early myoclonic encephalopathy [RCV000921701] Chr10:63208183 [GRCh38]
Chr10:64967943 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2838G>A (p.Leu946=) single nucleotide variant Early myoclonic encephalopathy [RCV000877780] Chr10:63209092 [GRCh38]
Chr10:64968852 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1968A>G (p.Val656=) single nucleotide variant Early myoclonic encephalopathy [RCV000937725] Chr10:63214199 [GRCh38]
Chr10:64973959 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.813C>T (p.Asn271=) single nucleotide variant Early myoclonic encephalopathy [RCV001421647] Chr10:63215562 [GRCh38]
Chr10:64975322 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.468C>G (p.Asn156Lys) single nucleotide variant Early myoclonic encephalopathy [RCV000970594]|not provided [RCV002066419] Chr10:63219963 [GRCh38]
Chr10:64979723 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3068G>A (p.Arg1023His) single nucleotide variant Early myoclonic encephalopathy [RCV000882949] Chr10:63208601 [GRCh38]
Chr10:64968361 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.894G>A (p.Gln298=) single nucleotide variant Early myoclonic encephalopathy [RCV000878122] Chr10:63215384 [GRCh38]
Chr10:64975144 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.663C>T (p.Ile221=) single nucleotide variant Early myoclonic encephalopathy [RCV001425609] Chr10:63217222 [GRCh38]
Chr10:64976982 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5103T>C (p.Asp1701=) single nucleotide variant Early myoclonic encephalopathy [RCV000949219] Chr10:63200649 [GRCh38]
Chr10:64960409 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5074+8dup duplication Early myoclonic encephalopathy [RCV000950934] Chr10:63206586..63206587 [GRCh38]
Chr10:64966346..64966347 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6912A>G (p.Pro2304=) single nucleotide variant not provided [RCV000943226] Chr10:63184657 [GRCh38]
Chr10:64944417 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3609A>G (p.Leu1203=) single nucleotide variant Early myoclonic encephalopathy [RCV002065995] Chr10:63208060 [GRCh38]
Chr10:64967820 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1806T>A (p.Pro602=) single nucleotide variant Early myoclonic encephalopathy [RCV001459618] Chr10:63214361 [GRCh38]
Chr10:64974121 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2570T>C (p.Leu857Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001050322]|not specified [RCV004031560] Chr10:63213597 [GRCh38]
Chr10:64973357 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.980_982del (p.Met327del) deletion Early myoclonic encephalopathy [RCV001037803] Chr10:63215296..63215298 [GRCh38]
Chr10:64975056..64975058 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.157C>G (p.Pro53Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001044482] Chr10:63465506 [GRCh38]
Chr10:65225266 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3143A>G (p.Asn1048Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001044576]|not specified [RCV004031363] Chr10:63208526 [GRCh38]
Chr10:64968286 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7509A>C (p.Glu2503Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001050746] Chr10:63168459 [GRCh38]
Chr10:64928219 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3836A>C (p.Asn1279Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001050774] Chr10:63207833 [GRCh38]
Chr10:64967593 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2800C>T (p.Arg934Trp) single nucleotide variant Early myoclonic encephalopathy [RCV001063293] Chr10:63209130 [GRCh38]
Chr10:64968890 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3532A>G (p.Thr1178Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001051287]|not specified [RCV004031593] Chr10:63208137 [GRCh38]
Chr10:64967897 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3346A>G (p.Asn1116Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001051663]|not specified [RCV004031611] Chr10:63208323 [GRCh38]
Chr10:64968083 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7501_7503dup (p.Lys2501dup) duplication Early myoclonic encephalopathy [RCV001067743] Chr10:63168464..63168465 [GRCh38]
Chr10:64928224..64928225 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4704G>A (p.Met1568Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001044973] Chr10:63206965 [GRCh38]
Chr10:64966725 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6075A>C (p.Lys2025Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001063909]|not specified [RCV004030516] Chr10:63192939 [GRCh38]
Chr10:64952699 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1640C>G (p.Ser547Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001063910] Chr10:63214527 [GRCh38]
Chr10:64974287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3487A>G (p.Ile1163Val) single nucleotide variant Early myoclonic encephalopathy [RCV001064415] Chr10:63208182 [GRCh38]
Chr10:64967942 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6707A>C (p.Lys2236Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001046579] Chr10:63186247 [GRCh38]
Chr10:64946007 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5932A>G (p.Thr1978Ala) single nucleotide variant not specified [RCV004299497] Chr10:63193082 [GRCh38]
Chr10:64952842 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4150G>A (p.Val1384Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001042513] Chr10:63207519 [GRCh38]
Chr10:64967279 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5930A>G (p.Asn1977Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001042542]|not provided [RCV003233933]|not specified [RCV004031288] Chr10:63193084 [GRCh38]
Chr10:64952844 [GRCh37]
Chr10:10q21.3		 uncertain significance|not provided
NC_000010.11:g.(?_63380298)_(63465682_?)del deletion Early myoclonic encephalopathy [RCV001033611] Chr10:65140058..65225442 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2804C>T (p.Pro935Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001035555] Chr10:63209126 [GRCh38]
Chr10:64968886 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4309A>G (p.Ser1437Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001036339] Chr10:63207360 [GRCh38]
Chr10:64967120 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.358A>C (p.Asn120His) single nucleotide variant Early myoclonic encephalopathy [RCV001070954] Chr10:63264740 [GRCh38]
Chr10:65024500 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.389T>A (p.Phe130Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001049619]|not provided [RCV003413847] Chr10:63264709 [GRCh38]
Chr10:65024469 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4869A>T (p.Glu1623Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001049901]|not specified [RCV004031552] Chr10:63206800 [GRCh38]
Chr10:64966560 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6891C>G (p.Phe2297Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000809014] Chr10:63184678 [GRCh38]
Chr10:64944438 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.489G>A (p.Pro163=) single nucleotide variant Early myoclonic encephalopathy [RCV001467128]|JMJD1C-related disorder [RCV003923106] Chr10:63219942 [GRCh38]
Chr10:64979702 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7477T>C (p.Leu2493=) single nucleotide variant Early myoclonic encephalopathy [RCV001409170] Chr10:63168491 [GRCh38]
Chr10:64928251 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1191A>G (p.Pro397=) single nucleotide variant Early myoclonic encephalopathy [RCV001444512] Chr10:63214976 [GRCh38]
Chr10:64974736 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2481G>A (p.Ala827=) single nucleotide variant Early myoclonic encephalopathy [RCV000920893] Chr10:63213686 [GRCh38]
Chr10:64973446 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+9G>A single nucleotide variant Early myoclonic encephalopathy [RCV000923924]|JMJD1C-related disorder [RCV003970516] Chr10:63465486 [GRCh38]
Chr10:65225246 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5492-7A>G single nucleotide variant Early myoclonic encephalopathy [RCV000943654] Chr10:63197570 [GRCh38]
Chr10:64957330 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3384G>A (p.Ala1128=) single nucleotide variant Early myoclonic encephalopathy [RCV000878838] Chr10:63208285 [GRCh38]
Chr10:64968045 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6234T>A (p.Arg2078=) single nucleotide variant Early myoclonic encephalopathy [RCV001415804] Chr10:63190951 [GRCh38]
Chr10:64950711 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2637T>G (p.Pro879=) single nucleotide variant not provided [RCV000897459] Chr10:63213530 [GRCh38]
Chr10:64973290 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3345A>C (p.Ser1115=) single nucleotide variant Early myoclonic encephalopathy [RCV000940888] Chr10:63208324 [GRCh38]
Chr10:64968084 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1575C>T (p.Asn525=) single nucleotide variant Early myoclonic encephalopathy [RCV000924516] Chr10:63214592 [GRCh38]
Chr10:64974352 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.18G>C (p.Arg6=) single nucleotide variant not provided [RCV000920886] Chr10:63465645 [GRCh38]
Chr10:65225405 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.334-9dup duplication not provided [RCV000963255] Chr10:63264772..63264773 [GRCh38]
Chr10:65024532..65024533 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.5250A>G (p.Val1750=) single nucleotide variant Early myoclonic encephalopathy [RCV000949158]|JMJD1C-related disorder [RCV003970692] Chr10:63200502 [GRCh38]
Chr10:64960262 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1920A>G (p.Pro640=) single nucleotide variant not provided [RCV000920266] Chr10:63214247 [GRCh38]
Chr10:64974007 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.372A>T (p.Ser124=) single nucleotide variant Early myoclonic encephalopathy [RCV000966566] Chr10:63264726 [GRCh38]
Chr10:65024486 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3237A>G (p.Lys1079=) single nucleotide variant Early myoclonic encephalopathy [RCV000910108] Chr10:63208432 [GRCh38]
Chr10:64968192 [GRCh37]
Chr10:10q21.3		 likely benign
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3		 pathogenic
NM_032776.3(JMJD1C):c.7195G>A (p.Val2399Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000813671]|not specified [RCV004629344] Chr10:63177746 [GRCh38]
Chr10:64937506 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4378A>G (p.Ser1460Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000812611] Chr10:63207291 [GRCh38]
Chr10:64967051 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2775C>T (p.Val925=) single nucleotide variant Early myoclonic encephalopathy [RCV000937732] Chr10:63209155 [GRCh38]
Chr10:64968915 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4532C>G (p.Thr1511Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000814473] Chr10:63207137 [GRCh38]
Chr10:64966897 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3494A>G (p.Glu1165Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000813267] Chr10:63208175 [GRCh38]
Chr10:64967935 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3937A>G (p.Thr1313Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000823306]|not specified [RCV004029140] Chr10:63207732 [GRCh38]
Chr10:64967492 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.793C>T (p.Arg265Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000816152]|not provided [RCV003489906]|not specified [RCV004028880] Chr10:63215582 [GRCh38]
Chr10:64975342 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1235AAG[1] (p.Glu413del) microsatellite Early myoclonic encephalopathy [RCV000819514] Chr10:63214927..63214929 [GRCh38]
Chr10:64974687..64974689 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1534A>G (p.Ile512Val) single nucleotide variant Early myoclonic encephalopathy [RCV000806871] Chr10:63214633 [GRCh38]
Chr10:64974393 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4069C>T (p.Pro1357Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000801414]|not provided [RCV003413603]|not specified [RCV004028061] Chr10:63207600 [GRCh38]
Chr10:64967360 [GRCh37]
Chr10:10q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032776.3(JMJD1C):c.2498A>C (p.Gln833Pro) single nucleotide variant Early myoclonic encephalopathy [RCV000821387] Chr10:63213669 [GRCh38]
Chr10:64973429 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2212T>G (p.Phe738Val) single nucleotide variant Early myoclonic encephalopathy [RCV000810987]|not specified [RCV004028714] Chr10:63213955 [GRCh38]
Chr10:64973715 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2555C>T (p.Ala852Val) single nucleotide variant Early myoclonic encephalopathy [RCV000807345] Chr10:63213612 [GRCh38]
Chr10:64973372 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6327T>A (p.Leu2109=) single nucleotide variant Early myoclonic encephalopathy [RCV000817921] Chr10:63189411 [GRCh38]
Chr10:64949171 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3463G>A (p.Glu1155Lys) single nucleotide variant Early myoclonic encephalopathy [RCV000805081] Chr10:63208206 [GRCh38]
Chr10:64967966 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2459C>T (p.Ala820Val) single nucleotide variant Early myoclonic encephalopathy [RCV000814260] Chr10:63213708 [GRCh38]
Chr10:64973468 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4045G>A (p.Gly1349Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000816425]|not specified [RCV004028889] Chr10:63207624 [GRCh38]
Chr10:64967384 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5779T>C (p.Tyr1927His) single nucleotide variant Early myoclonic encephalopathy [RCV000811445] Chr10:63193428 [GRCh38]
Chr10:64953188 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1770_1771delinsAC (p.Asn590_Met591delinsLysLeu) indel Early myoclonic encephalopathy [RCV000814793] Chr10:63214396..63214397 [GRCh38]
Chr10:64974156..64974157 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7433C>T (p.Thr2478Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000822011] Chr10:63168535 [GRCh38]
Chr10:64928295 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2849T>C (p.Leu950Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000811450] Chr10:63209081 [GRCh38]
Chr10:64968841 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6433T>G (p.Ser2145Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000815202] Chr10:63189305 [GRCh38]
Chr10:64949065 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1143A>G (p.Ser381=) single nucleotide variant Early myoclonic encephalopathy [RCV000937601] Chr10:63215024 [GRCh38]
Chr10:64974784 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3595A>C (p.Ser1199Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000791912] Chr10:63208074 [GRCh38]
Chr10:64967834 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4613_4623delinsTATGT (p.Ala1538_Thr1541delinsValCys) indel Early myoclonic encephalopathy [RCV000795264] Chr10:63207046..63207056 [GRCh38]
Chr10:64966806..64966816 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4579A>G (p.Ile1527Val) single nucleotide variant Early myoclonic encephalopathy [RCV000815356]|not specified [RCV004028852] Chr10:63207090 [GRCh38]
Chr10:64966850 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4852G>A (p.Ala1618Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001209904]|not provided [RCV000994406] Chr10:63206817 [GRCh38]
Chr10:64966577 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5072A>G (p.Asn1691Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000796756] Chr10:63206597 [GRCh38]
Chr10:64966357 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7462G>A (p.Val2488Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000812337]|not specified [RCV004028768] Chr10:63168506 [GRCh38]
Chr10:64928266 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5758A>G (p.Met1920Val) single nucleotide variant Early myoclonic encephalopathy [RCV000809889] Chr10:63193449 [GRCh38]
Chr10:64953209 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1064C>T (p.Pro355Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000815950] Chr10:63215103 [GRCh38]
Chr10:64974863 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7374T>A (p.Ile2458=) single nucleotide variant Early myoclonic encephalopathy [RCV000793804] Chr10:63176324 [GRCh38]
Chr10:64936084 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.5863-6T>G single nucleotide variant not provided [RCV000991285] Chr10:63193157 [GRCh38]
Chr10:64952917 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_032776.3(JMJD1C):c.1082_1098del (p.Lys361fs) deletion not provided [RCV000991286] Chr10:63215069..63215085 [GRCh38]
Chr10:64974829..64974845 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_032776.3(JMJD1C):c.5395A>G (p.Ile1799Val) single nucleotide variant Early myoclonic encephalopathy [RCV000822617] Chr10:63198609 [GRCh38]
Chr10:64958369 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7273C>G (p.Arg2425Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000820401] Chr10:63176425 [GRCh38]
Chr10:64936185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4079A>T (p.Asn1360Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000801385]|JMJD1C-related disorder [RCV003413602] Chr10:63207590 [GRCh38]
Chr10:64967350 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4793T>C (p.Val1598Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000797731] Chr10:63206876 [GRCh38]
Chr10:64966636 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1319A>T (p.Asp440Val) single nucleotide variant Early myoclonic encephalopathy [RCV000824134] Chr10:63214848 [GRCh38]
Chr10:64974608 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3383C>T (p.Ala1128Val) single nucleotide variant Early myoclonic encephalopathy [RCV000794165]|not specified [RCV004027472] Chr10:63208286 [GRCh38]
Chr10:64968046 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3563A>G (p.His1188Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000808594]|not specified [RCV004927642] Chr10:63208106 [GRCh38]
Chr10:64967866 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.457G>A (p.Asp153Asn) single nucleotide variant Early myoclonic encephalopathy [RCV000821859] Chr10:63219974 [GRCh38]
Chr10:64979734 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4913C>T (p.Ser1638Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000818756]|not provided [RCV001784444]|not specified [RCV004629349] Chr10:63206756 [GRCh38]
Chr10:64966516 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3530C>T (p.Thr1177Ile) single nucleotide variant Early myoclonic encephalopathy [RCV000793050]|not specified [RCV004927639] Chr10:63208139 [GRCh38]
Chr10:64967899 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.11:g.(?_63380298)_(63380502_?)del deletion Early myoclonic encephalopathy [RCV000803911] Chr10:63380298..63380502 [GRCh38]
Chr10:65140058..65140262 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6175A>T (p.Asn2059Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001059476] Chr10:63191010 [GRCh38]
Chr10:64950770 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.560A>T (p.Tyr187Phe) single nucleotide variant Early myoclonic encephalopathy [RCV000793769] Chr10:63217325 [GRCh38]
Chr10:64977085 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7372A>G (p.Ile2458Val) single nucleotide variant Early myoclonic encephalopathy [RCV000812119] Chr10:63176326 [GRCh38]
Chr10:64936086 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.808G>A (p.Val270Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001060377] Chr10:63215567 [GRCh38]
Chr10:64975327 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4734T>G (p.Ile1578Met) single nucleotide variant Early myoclonic encephalopathy [RCV000806432] Chr10:63206935 [GRCh38]
Chr10:64966695 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5863-3T>C single nucleotide variant Early myoclonic encephalopathy [RCV000794710] Chr10:63193154 [GRCh38]
Chr10:64952914 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1227A>G (p.Ile409Met) single nucleotide variant Early myoclonic encephalopathy [RCV001052626] Chr10:63214940 [GRCh38]
Chr10:64974700 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4483A>G (p.Lys1495Glu) single nucleotide variant Early myoclonic encephalopathy [RCV000805337] Chr10:63207186 [GRCh38]
Chr10:64966946 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.934A>C (p.Asn312His) single nucleotide variant Early myoclonic encephalopathy [RCV000815489] Chr10:63215344 [GRCh38]
Chr10:64975104 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1840C>T (p.His614Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV000822084]|not specified [RCV004629354] Chr10:63214327 [GRCh38]
Chr10:64974087 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1526T>A (p.Val509Asp) single nucleotide variant Early myoclonic encephalopathy [RCV000812927] Chr10:63214641 [GRCh38]
Chr10:64974401 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1085T>G (p.Leu362Arg) single nucleotide variant Early myoclonic encephalopathy [RCV000816141]|not provided [RCV004693366]|not specified [RCV004028878] Chr10:63215082 [GRCh38]
Chr10:64974842 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2845A>G (p.Thr949Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000791859] Chr10:63209085 [GRCh38]
Chr10:64968845 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6443A>G (p.Asp2148Gly) single nucleotide variant Early myoclonic encephalopathy [RCV000808352] Chr10:63189295 [GRCh38]
Chr10:64949055 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.18G>A (p.Arg6=) single nucleotide variant Early myoclonic encephalopathy [RCV000964691]|not provided [RCV004718795] Chr10:63465645 [GRCh38]
Chr10:65225405 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.5091A>G (p.Ser1697=) single nucleotide variant Early myoclonic encephalopathy [RCV001466753] Chr10:63200661 [GRCh38]
Chr10:64960421 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4355C>G (p.Thr1452Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000797099] Chr10:63207314 [GRCh38]
Chr10:64967074 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2068C>T (p.Pro690Ser) single nucleotide variant Early myoclonic encephalopathy [RCV000816777] Chr10:63214099 [GRCh38]
Chr10:64973859 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.71G>T (p.Arg24Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000820062] Chr10:63465592 [GRCh38]
Chr10:65225352 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4379GTA[3] (p.Ser1461dup) microsatellite Early myoclonic encephalopathy [RCV000813759] Chr10:63207284..63207285 [GRCh38]
Chr10:64967044..64967045 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4421C>T (p.Ser1474Leu) single nucleotide variant Early myoclonic encephalopathy [RCV000795123] Chr10:63207248 [GRCh38]
Chr10:64967008 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1381A>G (p.Ile461Val) single nucleotide variant Early myoclonic encephalopathy [RCV000817133] Chr10:63214786 [GRCh38]
Chr10:64974546 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:65101267-65249694)x1 copy number loss not provided [RCV000846064] Chr10:65101267..65249694 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4194A>G (p.Val1398=) single nucleotide variant Early myoclonic encephalopathy [RCV000975958] Chr10:63207475 [GRCh38]
Chr10:64967235 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1100T>C (p.Leu367Pro) single nucleotide variant not provided [RCV000991287] Chr10:63215067 [GRCh38]
Chr10:64974827 [GRCh37]
Chr10:10q21.3		 likely pathogenic
GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1 copy number loss not provided [RCV001006326] Chr10:56031210..65660398 [GRCh37]
Chr10:10q21.1-21.3		 pathogenic
GRCh37/hg19 10q21.3(chr10:64942071-64981389)x1 copy number loss not provided [RCV000846639] Chr10:64942071..64981389 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4280C>T (p.Ser1427Phe) single nucleotide variant not provided [RCV000994407] Chr10:63207389 [GRCh38]
Chr10:64967149 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2690G>C (p.Arg897Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001056248]|not specified [RCV004031780] Chr10:63213477 [GRCh38]
Chr10:64973237 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.168+5G>A single nucleotide variant Early myoclonic encephalopathy [RCV001245829] Chr10:63465490 [GRCh38]
Chr10:65225250 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5501C>T (p.Ala1834Val) single nucleotide variant Early myoclonic encephalopathy [RCV001213372] Chr10:63197554 [GRCh38]
Chr10:64957314 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1247C>T (p.Pro416Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001211237]|not specified [RCV005367761] Chr10:63214920 [GRCh38]
Chr10:64974680 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4187C>T (p.Thr1396Met) single nucleotide variant Early myoclonic encephalopathy [RCV001052624] Chr10:63207482 [GRCh38]
Chr10:64967242 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6179A>G (p.Asn2060Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001201574] Chr10:63191006 [GRCh38]
Chr10:64950766 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1129G>A (p.Glu377Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001242468] Chr10:63215038 [GRCh38]
Chr10:64974798 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4412C>T (p.Ser1471Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001208246] Chr10:63207257 [GRCh38]
Chr10:64967017 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2054G>A (p.Ser685Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001247593] Chr10:63214113 [GRCh38]
Chr10:64973873 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6817A>G (p.Met2273Val) single nucleotide variant Early myoclonic encephalopathy [RCV001236651] Chr10:63185576 [GRCh38]
Chr10:64945336 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6170C>T (p.Ser2057Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001236678] Chr10:63191015 [GRCh38]
Chr10:64950775 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.74C>G (p.Ser25Trp) single nucleotide variant Early myoclonic encephalopathy [RCV001208767] Chr10:63465589 [GRCh38]
Chr10:65225349 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6427ATA[1] (p.Ile2144del) microsatellite Early myoclonic encephalopathy [RCV001210630] Chr10:63189306..63189308 [GRCh38]
Chr10:64949066..64949068 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6200G>A (p.Arg2067Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001223867] Chr10:63190985 [GRCh38]
Chr10:64950745 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4775G>A (p.Ser1592Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001214286] Chr10:63206894 [GRCh38]
Chr10:64966654 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5018T>C (p.Val1673Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001205074] Chr10:63206651 [GRCh38]
Chr10:64966411 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3557C>G (p.Pro1186Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001237737] Chr10:63208112 [GRCh38]
Chr10:64967872 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7075T>C (p.Ser2359Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001222279] Chr10:63183456 [GRCh38]
Chr10:64943216 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2257A>G (p.Thr753Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001222300] Chr10:63213910 [GRCh38]
Chr10:64973670 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6077A>G (p.Glu2026Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001222301] Chr10:63191108 [GRCh38]
Chr10:64950868 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3483C>T (p.Gly1161=) single nucleotide variant Early myoclonic encephalopathy [RCV001222302] Chr10:63208186 [GRCh38]
Chr10:64967946 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1732A>G (p.Ser578Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001224315] Chr10:63214435 [GRCh38]
Chr10:64974195 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1216A>G (p.Thr406Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001216239] Chr10:63214951 [GRCh38]
Chr10:64974711 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7386G>A (p.Ala2462=) single nucleotide variant Early myoclonic encephalopathy [RCV001216266] Chr10:63176312 [GRCh38]
Chr10:64936072 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.89G>A (p.Ser30Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001216300] Chr10:63465574 [GRCh38]
Chr10:65225334 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1135A>G (p.Ser379Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001237843] Chr10:63215032 [GRCh38]
Chr10:64974792 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7159C>G (p.Pro2387Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001209178]|not specified [RCV004033759] Chr10:63177782 [GRCh38]
Chr10:64937542 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5645-3C>T single nucleotide variant Early myoclonic encephalopathy [RCV001224641] Chr10:63194378 [GRCh38]
Chr10:64954138 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4009G>T (p.Ala1337Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001203462]|not provided [RCV003413990]|not specified [RCV005367755] Chr10:63207660 [GRCh38]
Chr10:64967420 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2209C>T (p.Pro737Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001217487] Chr10:63213958 [GRCh38]
Chr10:64973718 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3783G>C (p.Gln1261His) single nucleotide variant Early myoclonic encephalopathy [RCV001239423] Chr10:63207886 [GRCh38]
Chr10:64967646 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.928C>T (p.Arg310Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001209636] Chr10:63215350 [GRCh38]
Chr10:64975110 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.162C>A (p.Asp54Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001223351]|not specified [RCV004927669] Chr10:63465501 [GRCh38]
Chr10:65225261 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.17G>A (p.Arg6Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001227033] Chr10:63465646 [GRCh38]
Chr10:65225406 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3085A>G (p.Ser1029Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001220746] Chr10:63208584 [GRCh38]
Chr10:64968344 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2158A>G (p.Ile720Val) single nucleotide variant Early myoclonic encephalopathy [RCV001209844] Chr10:63214009 [GRCh38]
Chr10:64973769 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4051A>G (p.Thr1351Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001209957]|JMJD1C-related disorder [RCV004749620] Chr10:63207618 [GRCh38]
Chr10:64967378 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2788G>A (p.Ala930Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001209983] Chr10:63209142 [GRCh38]
Chr10:64968902 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3451A>G (p.Lys1151Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001241429]|not specified [RCV004629514] Chr10:63208218 [GRCh38]
Chr10:64967978 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3067C>T (p.Arg1023Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001221176]|not specified [RCV004032409] Chr10:63208602 [GRCh38]
Chr10:64968362 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4309A>T (p.Ser1437Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001214663] Chr10:63207360 [GRCh38]
Chr10:64967120 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3907G>C (p.Ala1303Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001209739] Chr10:63207762 [GRCh38]
Chr10:64967522 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5366A>C (p.His1789Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001210166]|JMJD1C-associated Neurodevelopmental Disorder [RCV001839031] Chr10:63198638 [GRCh38]
Chr10:64958398 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6313A>G (p.Met2105Val) single nucleotide variant Early myoclonic encephalopathy [RCV001239815] Chr10:63189425 [GRCh38]
Chr10:64949185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3359A>G (p.Asp1120Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001232262] Chr10:63208310 [GRCh38]
Chr10:64968070 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1336G>A (p.Ala446Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001209981] Chr10:63214831 [GRCh38]
Chr10:64974591 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3144T>G (p.Asn1048Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001221621] Chr10:63208525 [GRCh38]
Chr10:64968285 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6922G>C (p.Val2308Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001210607] Chr10:63184647 [GRCh38]
Chr10:64944407 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3185A>G (p.His1062Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001242227] Chr10:63208484 [GRCh38]
Chr10:64968244 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4723G>A (p.Val1575Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001218763] Chr10:63206946 [GRCh38]
Chr10:64966706 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3260G>A (p.Ser1087Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001238810] Chr10:63208409 [GRCh38]
Chr10:64968169 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3818C>T (p.Thr1273Met) single nucleotide variant Early myoclonic encephalopathy [RCV001241010]|not specified [RCV004034668] Chr10:63207851 [GRCh38]
Chr10:64967611 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1777A>G (p.Lys593Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001241824] Chr10:63214390 [GRCh38]
Chr10:64974150 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2267C>T (p.Pro756Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001236079] Chr10:63213900 [GRCh38]
Chr10:64973660 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.368G>T (p.Ser123Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001212299] Chr10:63264730 [GRCh38]
Chr10:65024490 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3878A>C (p.Lys1293Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001230718]|not specified [RCV004033099] Chr10:63207791 [GRCh38]
Chr10:64967551 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1693T>G (p.Trp565Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001236131] Chr10:63214474 [GRCh38]
Chr10:64974234 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.497A>G (p.His166Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001219180] Chr10:63219934 [GRCh38]
Chr10:64979694 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4730A>G (p.Glu1577Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001219190]|not specified [RCV004032353] Chr10:63206939 [GRCh38]
Chr10:64966699 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6925C>T (p.Arg2309Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001207891] Chr10:63184644 [GRCh38]
Chr10:64944404 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1781A>G (p.Glu594Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001236436] Chr10:63214386 [GRCh38]
Chr10:64974146 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1724C>T (p.Thr575Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001211025] Chr10:63214443 [GRCh38]
Chr10:64974203 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:65143561-65193646)x1 copy number loss not provided [RCV001006331] Chr10:65143561..65193646 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4573A>G (p.Ser1525Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001212683] Chr10:63207096 [GRCh38]
Chr10:64966856 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2753G>A (p.Gly918Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001229272] Chr10:63209177 [GRCh38]
Chr10:64968937 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2162G>T (p.Gly721Val) single nucleotide variant Early myoclonic encephalopathy [RCV001212423] Chr10:63214005 [GRCh38]
Chr10:64973765 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1125T>C (p.Phe375=) single nucleotide variant Early myoclonic encephalopathy [RCV001450755] Chr10:63215042 [GRCh38]
Chr10:64974802 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5492-9G>A single nucleotide variant Early myoclonic encephalopathy [RCV001407882] Chr10:63197572 [GRCh38]
Chr10:64957332 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1152A>T (p.Ser384=) single nucleotide variant Early myoclonic encephalopathy [RCV001461725] Chr10:63215015 [GRCh38]
Chr10:64974775 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2508G>A (p.Leu836=) single nucleotide variant not provided [RCV000975241] Chr10:63213659 [GRCh38]
Chr10:64973419 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.45G>C (p.Leu15=) single nucleotide variant Early myoclonic encephalopathy [RCV000878290] Chr10:63465618 [GRCh38]
Chr10:65225378 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7503G>A (p.Lys2501=) single nucleotide variant Early myoclonic encephalopathy [RCV001467526] Chr10:63168465 [GRCh38]
Chr10:64928225 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6627A>G (p.Glu2209=) single nucleotide variant Early myoclonic encephalopathy [RCV002540051] Chr10:63186327 [GRCh38]
Chr10:64946087 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4724T>C (p.Val1575Ala) single nucleotide variant Early myoclonic encephalopathy [RCV000885353] Chr10:63206945 [GRCh38]
Chr10:64966705 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5388A>G (p.Glu1796=) single nucleotide variant Early myoclonic encephalopathy [RCV001464515] Chr10:63198616 [GRCh38]
Chr10:64958376 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4062C>T (p.Ile1354=) single nucleotide variant Early myoclonic encephalopathy [RCV000939398] Chr10:63207607 [GRCh38]
Chr10:64967367 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3621A>G (p.Pro1207=) single nucleotide variant Early myoclonic encephalopathy [RCV000883442] Chr10:63208048 [GRCh38]
Chr10:64967808 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4497C>T (p.Ala1499=) single nucleotide variant Early myoclonic encephalopathy [RCV000974619]|not provided [RCV005427451] Chr10:63207172 [GRCh38]
Chr10:64966932 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5829T>C (p.Val1943=) single nucleotide variant not provided [RCV000886738] Chr10:63193378 [GRCh38]
Chr10:64953138 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4044C>T (p.Ala1348=) single nucleotide variant Early myoclonic encephalopathy [RCV000977732] Chr10:63207625 [GRCh38]
Chr10:64967385 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.411T>C (p.Asp137=) single nucleotide variant Early myoclonic encephalopathy [RCV002545938] Chr10:63264687 [GRCh38]
Chr10:65024447 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2418C>G (p.Ala806=) single nucleotide variant Early myoclonic encephalopathy [RCV001458334] Chr10:63213749 [GRCh38]
Chr10:64973509 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4209C>T (p.Ala1403=) single nucleotide variant Early myoclonic encephalopathy [RCV000953881]|JMJD1C-related disorder [RCV003925990]|not provided [RCV003413756] Chr10:63207460 [GRCh38]
Chr10:64967220 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4373T>C (p.Leu1458Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001409074] Chr10:63207296 [GRCh38]
Chr10:64967056 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.331T>C (p.Leu111=) single nucleotide variant Early myoclonic encephalopathy [RCV000917427] Chr10:63380320 [GRCh38]
Chr10:65140080 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3765C>T (p.Pro1255=) single nucleotide variant Early myoclonic encephalopathy [RCV000879977] Chr10:63207904 [GRCh38]
Chr10:64967664 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3528A>G (p.Val1176=) single nucleotide variant Early myoclonic encephalopathy [RCV000928830] Chr10:63208141 [GRCh38]
Chr10:64967901 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.450C>T (p.Asp150=) single nucleotide variant Early myoclonic encephalopathy [RCV001492609] Chr10:63219981 [GRCh38]
Chr10:64979741 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6104A>C (p.Gln2035Pro) single nucleotide variant Early myoclonic encephalopathy [RCV000954014] Chr10:63191081 [GRCh38]
Chr10:64950841 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4797T>C (p.Asp1599=) single nucleotide variant Early myoclonic encephalopathy [RCV000952626] Chr10:63206872 [GRCh38]
Chr10:64966632 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5538T>C (p.Cys1846=) single nucleotide variant Early myoclonic encephalopathy [RCV001462212] Chr10:63197517 [GRCh38]
Chr10:64957277 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.288C>T (p.Ser96=) single nucleotide variant Early myoclonic encephalopathy [RCV000951191] Chr10:63380363 [GRCh38]
Chr10:65140123 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3214C>T (p.Arg1072Cys) single nucleotide variant Early myoclonic encephalopathy [RCV000898366]|not provided [RCV004705893] Chr10:63208455 [GRCh38]
Chr10:64968215 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1950T>C (p.Thr650=) single nucleotide variant Early myoclonic encephalopathy [RCV001416233] Chr10:63214217 [GRCh38]
Chr10:64973977 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2862T>C (p.His954=) single nucleotide variant Early myoclonic encephalopathy [RCV000877991]|not provided [RCV003413704] Chr10:63209068 [GRCh38]
Chr10:64968828 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5409A>G (p.Lys1803=) single nucleotide variant Early myoclonic encephalopathy [RCV000952018]|not provided [RCV004707499] Chr10:63198595 [GRCh38]
Chr10:64958355 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7101T>A (p.Phe2367Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001218423] Chr10:63177840 [GRCh38]
Chr10:64937600 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3083A>G (p.Glu1028Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001244504] Chr10:63208586 [GRCh38]
Chr10:64968346 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1028G>A (p.Gly343Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001219038] Chr10:63215139 [GRCh38]
Chr10:64974899 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2393C>T (p.Thr798Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001242744] Chr10:63213774 [GRCh38]
Chr10:64973534 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1648A>C (p.Asn550His) single nucleotide variant Early myoclonic encephalopathy [RCV001244787] Chr10:63214519 [GRCh38]
Chr10:64974279 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.77A>C (p.Glu26Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001207976] Chr10:63465586 [GRCh38]
Chr10:65225346 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3473G>A (p.Gly1158Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001201977]|not specified [RCV004629482] Chr10:63208196 [GRCh38]
Chr10:64967956 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.968A>T (p.Asp323Val) single nucleotide variant Early myoclonic encephalopathy [RCV001239553] Chr10:63215310 [GRCh38]
Chr10:64975070 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3182G>A (p.Ser1061Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001227406] Chr10:63208487 [GRCh38]
Chr10:64968247 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.64G>A (p.Glu22Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001245352] Chr10:63465599 [GRCh38]
Chr10:65225359 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.157C>T (p.Pro53Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001216944] Chr10:63465506 [GRCh38]
Chr10:65225266 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7621T>G (p.Ter2541Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001216971] Chr10:63168047 [GRCh38]
Chr10:64927807 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4027C>G (p.Leu1343Val) single nucleotide variant Early myoclonic encephalopathy [RCV001202707] Chr10:63207642 [GRCh38]
Chr10:64967402 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2323C>G (p.Pro775Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001217117] Chr10:63213844 [GRCh38]
Chr10:64973604 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6233G>A (p.Arg2078His) single nucleotide variant Early myoclonic encephalopathy [RCV001213801] Chr10:63190952 [GRCh38]
Chr10:64950712 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1958C>T (p.Pro653Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001224350] Chr10:63214209 [GRCh38]
Chr10:64973969 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2750T>C (p.Ile917Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001227881] Chr10:63209180 [GRCh38]
Chr10:64968940 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1264G>A (p.Ala422Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001057171] Chr10:63214903 [GRCh38]
Chr10:64974663 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.208G>C (p.Glu70Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001220852]|not specified [RCV004032400] Chr10:63380443 [GRCh38]
Chr10:65140203 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3904A>G (p.Met1302Val) single nucleotide variant Early myoclonic encephalopathy [RCV001241053] Chr10:63207765 [GRCh38]
Chr10:64967525 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3088A>G (p.Ile1030Val) single nucleotide variant Early myoclonic encephalopathy [RCV001227503] Chr10:63208581 [GRCh38]
Chr10:64968341 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2531T>A (p.Leu844His) single nucleotide variant Early myoclonic encephalopathy [RCV001237880]|JMJD1C-associated Neurodevelopmental Disorder [RCV001839033] Chr10:63213636 [GRCh38]
Chr10:64973396 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.38G>A (p.Arg13Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001224875] Chr10:63465625 [GRCh38]
Chr10:65225385 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4342T>C (p.Cys1448Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001224879] Chr10:63207327 [GRCh38]
Chr10:64967087 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3593G>T (p.Arg1198Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001209742] Chr10:63208076 [GRCh38]
Chr10:64967836 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3869A>G (p.His1290Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001065805] Chr10:63207800 [GRCh38]
Chr10:64967560 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.43C>G (p.Leu15Val) single nucleotide variant Early myoclonic encephalopathy [RCV001066151] Chr10:63465620 [GRCh38]
Chr10:65225380 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1456G>A (p.Asp486Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001225320] Chr10:63214711 [GRCh38]
Chr10:64974471 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1957C>T (p.Pro653Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001244267] Chr10:63214210 [GRCh38]
Chr10:64973970 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5835T>C (p.Asn1945=) single nucleotide variant Early myoclonic encephalopathy [RCV000934495] Chr10:63193372 [GRCh38]
Chr10:64953132 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4863T>G (p.Thr1621=) single nucleotide variant Early myoclonic encephalopathy [RCV000935692] Chr10:63206806 [GRCh38]
Chr10:64966566 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5445A>G (p.Gln1815=) single nucleotide variant Early myoclonic encephalopathy [RCV000958154] Chr10:63198559 [GRCh38]
Chr10:64958319 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1500A>G (p.Val500=) single nucleotide variant Early myoclonic encephalopathy [RCV002544469] Chr10:63214667 [GRCh38]
Chr10:64974427 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2982G>A (p.Arg994=) single nucleotide variant Early myoclonic encephalopathy [RCV000889418] Chr10:63208687 [GRCh38]
Chr10:64968447 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.326del (p.Pro109fs) deletion not provided [RCV000991288] Chr10:63380325 [GRCh38]
Chr10:65140085 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_032776.3(JMJD1C):c.3167_3207del (p.Ser1056fs) deletion not provided [RCV000991313] Chr10:63208462..63208502 [GRCh38]
Chr10:64968222..64968262 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_032776.3(JMJD1C):c.5766T>A (p.Thr1922=) single nucleotide variant not provided [RCV000911446] Chr10:63193441 [GRCh38]
Chr10:64953201 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=) single nucleotide variant Early myoclonic encephalopathy [RCV000934138]|not provided [RCV003413735] Chr10:63207862 [GRCh38]
Chr10:64967622 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.6888A>G (p.Lys2296=) single nucleotide variant Early myoclonic encephalopathy [RCV000912703] Chr10:63184681 [GRCh38]
Chr10:64944441 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4648C>T (p.Leu1550=) single nucleotide variant Early myoclonic encephalopathy [RCV001496714] Chr10:63207021 [GRCh38]
Chr10:64966781 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1698C>T (p.Val566=) single nucleotide variant Early myoclonic encephalopathy [RCV000889900] Chr10:63214469 [GRCh38]
Chr10:64974229 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6831-4T>C single nucleotide variant Early myoclonic encephalopathy [RCV001469764] Chr10:63184742 [GRCh38]
Chr10:64944502 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1197T>C (p.Asn399=) single nucleotide variant Early myoclonic encephalopathy [RCV000935702] Chr10:63214970 [GRCh38]
Chr10:64974730 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3771A>C (p.Pro1257=) single nucleotide variant Early myoclonic encephalopathy [RCV001415349] Chr10:63207898 [GRCh38]
Chr10:64967658 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2548C>T (p.Pro850Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001057271] Chr10:63213619 [GRCh38]
Chr10:64973379 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1 copy number loss not provided [RCV001006330] Chr10:62191184..65348431 [GRCh37]
Chr10:10q21.2-21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5869C>G (p.Gln1957Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001053670] Chr10:63193145 [GRCh38]
Chr10:64952905 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3449T>C (p.Ile1150Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001054572] Chr10:63208220 [GRCh38]
Chr10:64967980 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6415C>A (p.Pro2139Thr) single nucleotide variant not provided [RCV001093307] Chr10:63189323 [GRCh38]
Chr10:64949083 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6049G>C (p.Glu2017Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001059007] Chr10:63192965 [GRCh38]
Chr10:64952725 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.678+5A>G single nucleotide variant Early myoclonic encephalopathy [RCV001062822] Chr10:63217202 [GRCh38]
Chr10:64976962 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6002C>T (p.Thr2001Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001064026] Chr10:63193012 [GRCh38]
Chr10:64952772 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3194A>G (p.Lys1065Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001069137]|not specified [RCV004927656] Chr10:63208475 [GRCh38]
Chr10:64968235 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5086C>T (p.Arg1696Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001066110] Chr10:63200666 [GRCh38]
Chr10:64960426 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4666A>G (p.Thr1556Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001217051] Chr10:63207003 [GRCh38]
Chr10:64966763 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7018T>G (p.Ser2340Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001039230] Chr10:63183513 [GRCh38]
Chr10:64943273 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5923C>G (p.Gln1975Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001047767] Chr10:63193091 [GRCh38]
Chr10:64952851 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3250G>A (p.Val1084Met) single nucleotide variant Early myoclonic encephalopathy [RCV001204781]|not specified [RCV004033628] Chr10:63208419 [GRCh38]
Chr10:64968179 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.483C>A (p.Asp161Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001218680] Chr10:63219948 [GRCh38]
Chr10:64979708 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.272A>G (p.Lys91Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001061808] Chr10:63380379 [GRCh38]
Chr10:65140139 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2299G>A (p.Gly767Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001068234] Chr10:63213868 [GRCh38]
Chr10:64973628 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.929G>A (p.Arg310His) single nucleotide variant Early myoclonic encephalopathy [RCV001040417] Chr10:63215349 [GRCh38]
Chr10:64975109 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1370A>G (p.Gln457Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001048751] Chr10:63214797 [GRCh38]
Chr10:64974557 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3041G>A (p.Arg1014Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001205116] Chr10:63208628 [GRCh38]
Chr10:64968388 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7402G>A (p.Val2468Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001220306] Chr10:63168566 [GRCh38]
Chr10:64928326 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1435C>T (p.Leu479Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001069414] Chr10:63214732 [GRCh38]
Chr10:64974492 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.238A>T (p.Thr80Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001040836] Chr10:63380413 [GRCh38]
Chr10:65140173 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5842A>G (p.Thr1948Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001049128] Chr10:63193365 [GRCh38]
Chr10:64953125 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.522G>T (p.Lys174Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001219903] Chr10:63219909 [GRCh38]
Chr10:64979669 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1568A>G (p.Gln523Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001236900] Chr10:63214599 [GRCh38]
Chr10:64974359 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1936A>G (p.Lys646Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001041703] Chr10:63214231 [GRCh38]
Chr10:64973991 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2143A>G (p.Arg715Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001049865] Chr10:63214024 [GRCh38]
Chr10:64973784 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4714G>A (p.Gly1572Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001212760] Chr10:63206955 [GRCh38]
Chr10:64966715 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5903T>C (p.Leu1968Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001051467] Chr10:63193111 [GRCh38]
Chr10:64952871 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1438C>A (p.Pro480Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001071776]|not specified [RCV004031158] Chr10:63214729 [GRCh38]
Chr10:64974489 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1751C>T (p.Ser584Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001234079] Chr10:63214416 [GRCh38]
Chr10:64974176 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3923G>A (p.Arg1308His) single nucleotide variant Early myoclonic encephalopathy [RCV001207695]|not specified [RCV004629485] Chr10:63207746 [GRCh38]
Chr10:64967506 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5023A>G (p.Ser1675Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001220452] Chr10:63206646 [GRCh38]
Chr10:64966406 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4616C>G (p.Ser1539Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001035619]|not specified [RCV004030957] Chr10:63207053 [GRCh38]
Chr10:64966813 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5306G>C (p.Arg1769Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001233139] Chr10:63198698 [GRCh38]
Chr10:64958458 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4903G>A (p.Glu1635Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001036151] Chr10:63206766 [GRCh38]
Chr10:64966526 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4781T>C (p.Ile1594Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001232009] Chr10:63206888 [GRCh38]
Chr10:64966648 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6401A>G (p.Glu2134Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001232020] Chr10:63189337 [GRCh38]
Chr10:64949097 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1981A>G (p.Thr661Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001233430] Chr10:63214186 [GRCh38]
Chr10:64973946 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2693G>A (p.Arg898Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001217373] Chr10:63213474 [GRCh38]
Chr10:64973234 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4762G>A (p.Ala1588Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001230604] Chr10:63206907 [GRCh38]
Chr10:64966667 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2584A>G (p.Ile862Val) single nucleotide variant Early myoclonic encephalopathy [RCV001218130]|not specified [RCV004927666] Chr10:63213583 [GRCh38]
Chr10:64973343 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.754A>G (p.Lys252Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001207030] Chr10:63215621 [GRCh38]
Chr10:64975381 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5050C>G (p.Leu1684Val) single nucleotide variant Early myoclonic encephalopathy [RCV001064450] Chr10:63206619 [GRCh38]
Chr10:64966379 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3380C>G (p.Ala1127Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001064582] Chr10:63208289 [GRCh38]
Chr10:64968049 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4843A>G (p.Arg1615Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001045416] Chr10:63206826 [GRCh38]
Chr10:64966586 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1699A>G (p.Ser567Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001045876]|JMJD1C-related disorder [RCV003396652] Chr10:63214468 [GRCh38]
Chr10:64974228 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7423A>G (p.Ile2475Val) single nucleotide variant Early myoclonic encephalopathy [RCV001235275] Chr10:63168545 [GRCh38]
Chr10:64928305 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4150G>T (p.Val1384Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001235515] Chr10:63207519 [GRCh38]
Chr10:64967279 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1117T>G (p.Ser373Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001065107] Chr10:63215050 [GRCh38]
Chr10:64974810 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.353A>G (p.Glu118Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001046233] Chr10:63264745 [GRCh38]
Chr10:65024505 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1649A>C (p.Asn550Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001046353] Chr10:63214518 [GRCh38]
Chr10:64974278 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.152G>T (p.Arg51Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001245679]|not specified [RCV004034838] Chr10:63465511 [GRCh38]
Chr10:65225271 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5212C>T (p.Arg1738Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001218609] Chr10:63200540 [GRCh38]
Chr10:64960300 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.382G>A (p.Val128Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001065912] Chr10:63264716 [GRCh38]
Chr10:65024476 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.848A>G (p.Asn283Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001066053] Chr10:63215430 [GRCh38]
Chr10:64975190 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5334A>G (p.Gln1778=) single nucleotide variant Early myoclonic encephalopathy [RCV001039020] Chr10:63198670 [GRCh38]
Chr10:64958430 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.4156T>C (p.Ser1386Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001203356] Chr10:63207513 [GRCh38]
Chr10:64967273 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2042T>A (p.Leu681Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001203457]|not provided [RCV003490118] Chr10:63214125 [GRCh38]
Chr10:64973885 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.333+6A>T single nucleotide variant Early myoclonic encephalopathy [RCV001036515] Chr10:63380312 [GRCh38]
Chr10:65140072 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2236A>G (p.Arg746Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001036658] Chr10:63213931 [GRCh38]
Chr10:64973691 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4945A>C (p.Thr1649Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001037804] Chr10:63206724 [GRCh38]
Chr10:64966484 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1212A>C (p.Lys404Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001213306] Chr10:63214955 [GRCh38]
Chr10:64974715 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2354G>A (p.Gly785Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001039444] Chr10:63213813 [GRCh38]
Chr10:64973573 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3130G>A (p.Gly1044Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001063100] Chr10:63208539 [GRCh38]
Chr10:64968299 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2979T>G (p.His993Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001213737] Chr10:63208690 [GRCh38]
Chr10:64968450 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6982C>G (p.His2328Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001231425]|not specified [RCV005348374] Chr10:63183549 [GRCh38]
Chr10:64943309 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.678+4A>G single nucleotide variant Early myoclonic encephalopathy [RCV001042323] Chr10:63217203 [GRCh38]
Chr10:64976963 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7594G>T (p.Asp2532Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001214205] Chr10:63168074 [GRCh38]
Chr10:64927834 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.635A>G (p.His212Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001324619] Chr10:63217250 [GRCh38]
Chr10:64977010 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6818T>C (p.Met2273Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001304445] Chr10:63185575 [GRCh38]
Chr10:64945335 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6459A>T (p.Leu2153Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001350218] Chr10:63189279 [GRCh38]
Chr10:64949039 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6221C>T (p.Ala2074Val) single nucleotide variant not provided [RCV002280303] Chr10:63190964 [GRCh38]
Chr10:64950724 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1091T>G (p.Met364Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001257217] Chr10:63215076 [GRCh38]
Chr10:64974836 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7270A>G (p.Ile2424Val) single nucleotide variant Early myoclonic encephalopathy [RCV001324579] Chr10:63176428 [GRCh38]
Chr10:64936188 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1642A>G (p.Ile548Val) single nucleotide variant Early myoclonic encephalopathy [RCV001349528] Chr10:63214525 [GRCh38]
Chr10:64974285 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7070T>G (p.Ile2357Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001337879] Chr10:63183461 [GRCh38]
Chr10:64943221 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3784G>T (p.Ala1262Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001324615] Chr10:63207885 [GRCh38]
Chr10:64967645 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3497A>G (p.His1166Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001297806] Chr10:63208172 [GRCh38]
Chr10:64967932 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4496C>T (p.Ala1499Val) single nucleotide variant Early myoclonic encephalopathy [RCV001297878] Chr10:63207173 [GRCh38]
Chr10:64966933 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4814A>G (p.Asp1605Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001308283] Chr10:63206855 [GRCh38]
Chr10:64966615 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3707T>C (p.Met1236Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001341476] Chr10:63207962 [GRCh38]
Chr10:64967722 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2239A>G (p.Thr747Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001339688] Chr10:63213928 [GRCh38]
Chr10:64973688 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1705G>A (p.Val569Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001301858] Chr10:63214462 [GRCh38]
Chr10:64974222 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7328A>G (p.Tyr2443Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001341492]|not specified [RCV005348451] Chr10:63176370 [GRCh38]
Chr10:64936130 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1703A>G (p.Asp568Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001339426]|not specified [RCV004035898] Chr10:63214464 [GRCh38]
Chr10:64974224 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4264A>G (p.Asn1422Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001301391] Chr10:63207405 [GRCh38]
Chr10:64967165 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7152T>A (p.Ser2384Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001314700] Chr10:63177789 [GRCh38]
Chr10:64937549 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3694T>G (p.Leu1232Val) single nucleotide variant Early myoclonic encephalopathy [RCV001342870]|not provided [RCV003314003] Chr10:63207975 [GRCh38]
Chr10:64967735 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3592C>T (p.Arg1198Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001351881]|not specified [RCV004927696] Chr10:63208077 [GRCh38]
Chr10:64967837 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6082_6084del (p.Lys2028del) deletion Early myoclonic encephalopathy [RCV001301598] Chr10:63191101..63191103 [GRCh38]
Chr10:64950861..64950863 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2694+3A>G single nucleotide variant Early myoclonic encephalopathy [RCV001309370] Chr10:63213470 [GRCh38]
Chr10:64973230 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.881C>G (p.Ala294Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001343196] Chr10:63215397 [GRCh38]
Chr10:64975157 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2896C>A (p.Pro966Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001297056] Chr10:63208773 [GRCh38]
Chr10:64968533 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7084+3_7084+4dup duplication Early myoclonic encephalopathy [RCV001308647] Chr10:63183441..63183442 [GRCh38]
Chr10:64943201..64943202 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4142C>A (p.Pro1381His) single nucleotide variant Early myoclonic encephalopathy [RCV001304166]|not specified [RCV004036302] Chr10:63207527 [GRCh38]
Chr10:64967287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1739C>T (p.Thr580Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001343337] Chr10:63214428 [GRCh38]
Chr10:64974188 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3701C>T (p.Pro1234Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001338095] Chr10:63207968 [GRCh38]
Chr10:64967728 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3521A>G (p.His1174Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001352335]|not specified [RCV005361555] Chr10:63208148 [GRCh38]
Chr10:64967908 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3506A>G (p.His1169Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001340122] Chr10:63208163 [GRCh38]
Chr10:64967923 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1103G>C (p.Arg368Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001309059] Chr10:63215064 [GRCh38]
Chr10:64974824 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1255A>G (p.Asn419Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001306083] Chr10:63214912 [GRCh38]
Chr10:64974672 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2401C>A (p.Pro801Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001300384] Chr10:63213766 [GRCh38]
Chr10:64973526 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_65140068)_(65140252_?)del deletion Early myoclonic encephalopathy [RCV001315131] Chr10:65140068..65140252 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6570+3G>T single nucleotide variant Early myoclonic encephalopathy [RCV001325979] Chr10:63189165 [GRCh38]
Chr10:64948925 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5990A>G (p.Asp1997Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001321681]|not specified [RCV004035038] Chr10:63193024 [GRCh38]
Chr10:64952784 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3982C>G (p.Arg1328Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001299817] Chr10:63207687 [GRCh38]
Chr10:64967447 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1916G>A (p.Ser639Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001302359] Chr10:63214251 [GRCh38]
Chr10:64974011 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5062A>G (p.Ser1688Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001351652] Chr10:63206607 [GRCh38]
Chr10:64966367 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4036G>A (p.Ala1346Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001315556] Chr10:63207633 [GRCh38]
Chr10:64967393 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4052C>G (p.Thr1351Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001319488] Chr10:63207617 [GRCh38]
Chr10:64967377 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4695T>G (p.Thr1565=) single nucleotide variant Early myoclonic encephalopathy [RCV001414683] Chr10:63206974 [GRCh38]
Chr10:64966734 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7495C>A (p.Leu2499Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001298628] Chr10:63168473 [GRCh38]
Chr10:64928233 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5080A>G (p.Ile1694Val) single nucleotide variant Early myoclonic encephalopathy [RCV001295267]|not specified [RCV004927685] Chr10:63200672 [GRCh38]
Chr10:64960432 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3162A>G (p.Ser1054=) single nucleotide variant Early myoclonic encephalopathy [RCV001394629] Chr10:63208507 [GRCh38]
Chr10:64968267 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.840C>G (p.Ala280=) single nucleotide variant Early myoclonic encephalopathy [RCV001433384] Chr10:63215438 [GRCh38]
Chr10:64975198 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.474_475delinsAA (p.Leu159Ile) indel Early myoclonic encephalopathy [RCV001361601] Chr10:63219956..63219957 [GRCh38]
Chr10:64979716..64979717 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.95G>A (p.Arg32His) single nucleotide variant Early myoclonic encephalopathy [RCV001361609] Chr10:63465568 [GRCh38]
Chr10:65225328 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5756C>G (p.Ala1919Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001372745] Chr10:63193451 [GRCh38]
Chr10:64953211 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4653A>G (p.Lys1551=) single nucleotide variant Early myoclonic encephalopathy [RCV001391976] Chr10:63207016 [GRCh38]
Chr10:64966776 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2233C>T (p.His745Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001368811] Chr10:63213934 [GRCh38]
Chr10:64973694 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.668T>C (p.Met223Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001370571] Chr10:63217217 [GRCh38]
Chr10:64976977 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3971C>T (p.Ala1324Val) single nucleotide variant Early myoclonic encephalopathy [RCV001305938] Chr10:63207698 [GRCh38]
Chr10:64967458 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6187G>A (p.Gly2063Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001359044] Chr10:63190998 [GRCh38]
Chr10:64950758 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4396G>A (p.Val1466Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001370113] Chr10:63207273 [GRCh38]
Chr10:64967033 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2233C>A (p.His745Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001303244] Chr10:63213934 [GRCh38]
Chr10:64973694 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6834C>G (p.Tyr2278Ter) single nucleotide variant Early myoclonic encephalopathy [RCV001371128] Chr10:63184735 [GRCh38]
Chr10:64944495 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3071G>A (p.Arg1024Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001369961] Chr10:63208598 [GRCh38]
Chr10:64968358 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1564G>C (p.Ala522Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001294453] Chr10:63214603 [GRCh38]
Chr10:64974363 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3128A>G (p.Glu1043Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001349539] Chr10:63208541 [GRCh38]
Chr10:64968301 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5695C>A (p.His1899Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001373400]|not specified [RCV005348488] Chr10:63194325 [GRCh38]
Chr10:64954085 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1525G>A (p.Val509Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001349087] Chr10:63214642 [GRCh38]
Chr10:64974402 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3647G>A (p.Ser1216Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001312885] Chr10:63208022 [GRCh38]
Chr10:64967782 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4489A>G (p.Ser1497Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001349321] Chr10:63207180 [GRCh38]
Chr10:64966940 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4437T>C (p.Phe1479=) single nucleotide variant Early myoclonic encephalopathy [RCV001422874] Chr10:63207232 [GRCh38]
Chr10:64966992 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2863A>G (p.Lys955Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001362905] Chr10:63209067 [GRCh38]
Chr10:64968827 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7230A>G (p.Ser2410=) single nucleotide variant Early myoclonic encephalopathy [RCV001415417] Chr10:63176468 [GRCh38]
Chr10:64936228 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1760A>G (p.Asp587Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001337710] Chr10:63214407 [GRCh38]
Chr10:64974167 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1246C>A (p.Pro416Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001361014]|not specified [RCV004036786] Chr10:63214921 [GRCh38]
Chr10:64974681 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2803C>T (p.Pro935Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001373172] Chr10:63209127 [GRCh38]
Chr10:64968887 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5528G>A (p.Arg1843Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001350125] Chr10:63197527 [GRCh38]
Chr10:64957287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3995G>T (p.Arg1332Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001343428] Chr10:63207674 [GRCh38]
Chr10:64967434 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2313A>C (p.Gln771His) single nucleotide variant Early myoclonic encephalopathy [RCV001364655] Chr10:63213854 [GRCh38]
Chr10:64973614 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.923G>C (p.Ser308Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001364701] Chr10:63215355 [GRCh38]
Chr10:64975115 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4835A>T (p.Lys1612Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001317617] Chr10:63206834 [GRCh38]
Chr10:64966594 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5415C>G (p.Ile1805Met) single nucleotide variant Early myoclonic encephalopathy [RCV001299075] Chr10:63198589 [GRCh38]
Chr10:64958349 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6425G>T (p.Ser2142Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001301423] Chr10:63189313 [GRCh38]
Chr10:64949073 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2114T>C (p.Ile705Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001343535] Chr10:63214053 [GRCh38]
Chr10:64973813 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1469C>A (p.Thr490Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001303315]|not specified [RCV004629547] Chr10:63214698 [GRCh38]
Chr10:64974458 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5188_5189del (p.Lys1730fs) deletion Early myoclonic encephalopathy [RCV001323918] Chr10:63200563..63200564 [GRCh38]
Chr10:64960323..64960324 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.532G>A (p.Val178Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001323927] Chr10:63219899 [GRCh38]
Chr10:64979659 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3007C>G (p.Gln1003Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001362850]|not specified [RCV004036851] Chr10:63208662 [GRCh38]
Chr10:64968422 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2159T>C (p.Ile720Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001362907] Chr10:63214008 [GRCh38]
Chr10:64973768 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5068A>G (p.Ser1690Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001369565] Chr10:63206601 [GRCh38]
Chr10:64966361 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1798A>G (p.Ile600Val) single nucleotide variant Early myoclonic encephalopathy [RCV001344865] Chr10:63214369 [GRCh38]
Chr10:64974129 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1371A>G (p.Gln457=) single nucleotide variant Early myoclonic encephalopathy [RCV001360698] Chr10:63214796 [GRCh38]
Chr10:64974556 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.2971C>T (p.His991Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001365050] Chr10:63208698 [GRCh38]
Chr10:64968458 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2123A>G (p.Asn708Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001352077] Chr10:63214044 [GRCh38]
Chr10:64973804 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1346G>A (p.Arg449Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001320242] Chr10:63214821 [GRCh38]
Chr10:64974581 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4387A>G (p.Thr1463Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001343824] Chr10:63207282 [GRCh38]
Chr10:64967042 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2941C>G (p.Leu981Val) single nucleotide variant Early myoclonic encephalopathy [RCV001344888] Chr10:63208728 [GRCh38]
Chr10:64968488 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2831C>A (p.Pro944Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001371773] Chr10:63209099 [GRCh38]
Chr10:64968859 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5213G>A (p.Arg1738His) single nucleotide variant Early myoclonic encephalopathy [RCV001326673] Chr10:63200539 [GRCh38]
Chr10:64960299 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4618_4623del (p.Gln1540_Thr1541del) deletion Early myoclonic encephalopathy [RCV001325598] Chr10:63207046..63207051 [GRCh38]
Chr10:64966806..64966811 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6851G>A (p.Ser2284Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001372132]|not specified [RCV004037523] Chr10:63184718 [GRCh38]
Chr10:64944478 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5764A>G (p.Thr1922Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001352313] Chr10:63193443 [GRCh38]
Chr10:64953203 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4992AGA[2] (p.Glu1666del) microsatellite Early myoclonic encephalopathy [RCV001320578] Chr10:63206669..63206671 [GRCh38]
Chr10:64966429..64966431 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4175G>T (p.Cys1392Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001345081] Chr10:63207494 [GRCh38]
Chr10:64967254 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6571-11_6571-8del deletion Early myoclonic encephalopathy [RCV001346134] Chr10:63186391..63186394 [GRCh38]
Chr10:64946151..64946154 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.7600G>C (p.Val2534Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001347228]|not specified [RCV004629590] Chr10:63168068 [GRCh38]
Chr10:64927828 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2111T>C (p.Ile704Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001327652] Chr10:63214056 [GRCh38]
Chr10:64973816 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.161A>C (p.Asp54Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001300528] Chr10:63465502 [GRCh38]
Chr10:65225262 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.667dup (p.Met223fs) duplication Autism spectrum disorder [RCV001291388] Chr10:63217217..63217218 [GRCh38]
Chr10:64976977..64976978 [GRCh37]
Chr10:10q21.3		 association
NM_032776.3(JMJD1C):c.4210G>A (p.Asp1404Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001342738] Chr10:63207459 [GRCh38]
Chr10:64967219 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2010A>G (p.Glu670=) single nucleotide variant Early myoclonic encephalopathy [RCV001372564] Chr10:63214157 [GRCh38]
Chr10:64973917 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3954G>T (p.Met1318Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001347613]|not specified [RCV004036525] Chr10:63207715 [GRCh38]
Chr10:64967475 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5755G>A (p.Ala1919Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001308913] Chr10:63193452 [GRCh38]
Chr10:64953212 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6043C>T (p.Leu2015Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001302336] Chr10:63192971 [GRCh38]
Chr10:64952731 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5834A>G (p.Asn1945Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001342902] Chr10:63193373 [GRCh38]
Chr10:64953133 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7588C>A (p.His2530Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001347710] Chr10:63168080 [GRCh38]
Chr10:64927840 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.822+3A>G single nucleotide variant Early myoclonic encephalopathy [RCV001372915] Chr10:63215550 [GRCh38]
Chr10:64975310 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5774A>G (p.Glu1925Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001316205]|not specified [RCV004034386] Chr10:63193433 [GRCh38]
Chr10:64953193 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.511G>A (p.Val171Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001340117] Chr10:63219920 [GRCh38]
Chr10:64979680 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4216A>G (p.Thr1406Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001319421] Chr10:63207453 [GRCh38]
Chr10:64967213 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1311A>G (p.Ile437Met) single nucleotide variant Early myoclonic encephalopathy [RCV001349945] Chr10:63214856 [GRCh38]
Chr10:64974616 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4253C>T (p.Ser1418Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001347809] Chr10:63207416 [GRCh38]
Chr10:64967176 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5209A>C (p.Ile1737Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001308258] Chr10:63200543 [GRCh38]
Chr10:64960303 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3543T>G (p.Asn1181Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001318110] Chr10:63208126 [GRCh38]
Chr10:64967886 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6701A>G (p.Asn2234Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001343159] Chr10:63186253 [GRCh38]
Chr10:64946013 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5C>T (p.Ala2Val) single nucleotide variant Early myoclonic encephalopathy [RCV001323636]|not specified [RCV004035104] Chr10:63465658 [GRCh38]
Chr10:65225418 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6004C>T (p.Pro2002Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001301070] Chr10:63193010 [GRCh38]
Chr10:64952770 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5644+9A>G single nucleotide variant Early myoclonic encephalopathy [RCV001362406] Chr10:63197402 [GRCh38]
Chr10:64957162 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7363G>A (p.Gly2455Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001363837] Chr10:63176335 [GRCh38]
Chr10:64936095 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4306A>G (p.Lys1436Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001364353] Chr10:63207363 [GRCh38]
Chr10:64967123 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4289C>T (p.Ser1430Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001370977] Chr10:63207380 [GRCh38]
Chr10:64967140 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.849T>G (p.Asn283Lys) single nucleotide variant Early myoclonic encephalopathy [RCV001314323] Chr10:63215429 [GRCh38]
Chr10:64975189 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4016A>G (p.Lys1339Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001340386] Chr10:63207653 [GRCh38]
Chr10:64967413 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6404T>A (p.Leu2135His) single nucleotide variant Early myoclonic encephalopathy [RCV001313904] Chr10:63189334 [GRCh38]
Chr10:64949094 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3743A>G (p.Gln1248Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001368516] Chr10:63207926 [GRCh38]
Chr10:64967686 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.803A>T (p.Gln268Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001306260]|not provided [RCV002486195] Chr10:63215572 [GRCh38]
Chr10:64975332 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3082G>C (p.Glu1028Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001296756] Chr10:63208587 [GRCh38]
Chr10:64968347 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1151C>T (p.Ser384Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001317589] Chr10:63215016 [GRCh38]
Chr10:64974776 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3115A>G (p.Ile1039Val) single nucleotide variant Early myoclonic encephalopathy [RCV001315954] Chr10:63208554 [GRCh38]
Chr10:64968314 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5104T>C (p.Trp1702Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001366391] Chr10:63200648 [GRCh38]
Chr10:64960408 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4113C>T (p.Asn1371=) single nucleotide variant Early myoclonic encephalopathy [RCV001413725] Chr10:63207556 [GRCh38]
Chr10:64967316 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.349G>A (p.Val117Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001314619] Chr10:63264749 [GRCh38]
Chr10:65024509 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5375T>C (p.Phe1792Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001351019] Chr10:63198629 [GRCh38]
Chr10:64958389 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1523G>A (p.Cys508Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001366582] Chr10:63214644 [GRCh38]
Chr10:64974404 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2799T>G (p.His933Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001371453]|not specified [RCV004037505] Chr10:63209131 [GRCh38]
Chr10:64968891 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5196A>C (p.Arg1732=) single nucleotide variant Early myoclonic encephalopathy [RCV001421148] Chr10:63200556 [GRCh38]
Chr10:64960316 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6631A>G (p.Ile2211Val) single nucleotide variant Early myoclonic encephalopathy [RCV001366991]|not provided [RCV003490227]|not specified [RCV004036992] Chr10:63186323 [GRCh38]
Chr10:64946083 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2298C>A (p.Ala766=) single nucleotide variant Early myoclonic encephalopathy [RCV001367054] Chr10:63213869 [GRCh38]
Chr10:64973629 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.5225_5227del (p.Gly1742del) deletion Early myoclonic encephalopathy [RCV001367122] Chr10:63200525..63200527 [GRCh38]
Chr10:64960285..64960287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2374C>A (p.His792Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001369403] Chr10:63213793 [GRCh38]
Chr10:64973553 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1331AAG[1] (p.Glu445del) microsatellite Early myoclonic encephalopathy [RCV001369504] Chr10:63214831..63214833 [GRCh38]
Chr10:64974591..64974593 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5009C>T (p.Pro1670Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001371965] Chr10:63206660 [GRCh38]
Chr10:64966420 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4774A>G (p.Ser1592Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001365467] Chr10:63206895 [GRCh38]
Chr10:64966655 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1025A>T (p.Lys342Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001296566] Chr10:63215142 [GRCh38]
Chr10:64974902 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4754A>G (p.Asn1585Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001337350] Chr10:63206915 [GRCh38]
Chr10:64966675 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6926G>A (p.Arg2309His) single nucleotide variant Early myoclonic encephalopathy [RCV001337384] Chr10:63184643 [GRCh38]
Chr10:64944403 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3027G>T (p.Gln1009His) single nucleotide variant Early myoclonic encephalopathy [RCV001326563] Chr10:63208642 [GRCh38]
Chr10:64968402 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3385G>A (p.Ala1129Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001368944] Chr10:63208284 [GRCh38]
Chr10:64968044 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3716A>G (p.Asn1239Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001365560]|not provided [RCV003490226] Chr10:63207953 [GRCh38]
Chr10:64967713 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.822C>T (p.His274=) single nucleotide variant Early myoclonic encephalopathy [RCV001339528] Chr10:63215553 [GRCh38]
Chr10:64975313 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2020G>T (p.Ala674Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001365808] Chr10:63214147 [GRCh38]
Chr10:64973907 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3860C>G (p.Thr1287Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001365937] Chr10:63207809 [GRCh38]
Chr10:64967569 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4663C>T (p.Leu1555Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001325119] Chr10:63207006 [GRCh38]
Chr10:64966766 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.258C>G (p.His86Gln) single nucleotide variant Early myoclonic encephalopathy [RCV001366079] Chr10:63380393 [GRCh38]
Chr10:65140153 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2686T>C (p.Leu896=) single nucleotide variant Early myoclonic encephalopathy [RCV001468078] Chr10:63213481 [GRCh38]
Chr10:64973241 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1084C>T (p.Leu362=) single nucleotide variant Early myoclonic encephalopathy [RCV001430093] Chr10:63215083 [GRCh38]
Chr10:64974843 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3837T>C (p.Asn1279=) single nucleotide variant Early myoclonic encephalopathy [RCV001501649] Chr10:63207832 [GRCh38]
Chr10:64967592 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3004A>C (p.Asn1002His) single nucleotide variant Early myoclonic encephalopathy [RCV001465077] Chr10:63208665 [GRCh38]
Chr10:64968425 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6292-8C>T single nucleotide variant Early myoclonic encephalopathy [RCV001466808] Chr10:63189454 [GRCh38]
Chr10:64949214 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5122C>T (p.Leu1708=) single nucleotide variant Early myoclonic encephalopathy [RCV001475098] Chr10:63200630 [GRCh38]
Chr10:64960390 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2695-9T>C single nucleotide variant Early myoclonic encephalopathy [RCV001490819] Chr10:63209244 [GRCh38]
Chr10:64969004 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2349T>G (p.Thr783=) single nucleotide variant Early myoclonic encephalopathy [RCV001514796] Chr10:63213818 [GRCh38]
Chr10:64973578 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.7534-9C>A single nucleotide variant Early myoclonic encephalopathy [RCV001425059] Chr10:63168143 [GRCh38]
Chr10:64927903 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3375C>T (p.Ala1125=) single nucleotide variant Early myoclonic encephalopathy [RCV001487881] Chr10:63208294 [GRCh38]
Chr10:64968054 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4506T>C (p.Thr1502=) single nucleotide variant Early myoclonic encephalopathy [RCV001405221] Chr10:63207163 [GRCh38]
Chr10:64966923 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2836T>C (p.Leu946=) single nucleotide variant Early myoclonic encephalopathy [RCV001441736] Chr10:63209094 [GRCh38]
Chr10:64968854 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+11C>G single nucleotide variant Early myoclonic encephalopathy [RCV001523372]|not provided [RCV001685421] Chr10:63465484 [GRCh38]
Chr10:65225244 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4713A>T (p.Ser1571=) single nucleotide variant Early myoclonic encephalopathy [RCV001503528] Chr10:63206956 [GRCh38]
Chr10:64966716 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4614T>A (p.Ala1538=) single nucleotide variant Early myoclonic encephalopathy [RCV001486325] Chr10:63207055 [GRCh38]
Chr10:64966815 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1293G>A (p.Gln431=) single nucleotide variant Early myoclonic encephalopathy [RCV001506714] Chr10:63214874 [GRCh38]
Chr10:64974634 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4386G>A (p.Lys1462=) single nucleotide variant Early myoclonic encephalopathy [RCV001497360] Chr10:63207283 [GRCh38]
Chr10:64967043 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6624G>A (p.Ala2208=) single nucleotide variant Early myoclonic encephalopathy [RCV001512104] Chr10:63186330 [GRCh38]
Chr10:64946090 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.897T>C (p.Asn299=) single nucleotide variant Early myoclonic encephalopathy [RCV001439589] Chr10:63215381 [GRCh38]
Chr10:64975141 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2268T>C (p.Pro756=) single nucleotide variant Early myoclonic encephalopathy [RCV001491643] Chr10:63213899 [GRCh38]
Chr10:64973659 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.334-9del deletion Early myoclonic encephalopathy [RCV001522112]|JMJD1C-related disorder [RCV003908873] Chr10:63264773 [GRCh38]
Chr10:65024533 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.27G>C (p.Leu9=) single nucleotide variant Early myoclonic encephalopathy [RCV001463607] Chr10:63465636 [GRCh38]
Chr10:65225396 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5211T>C (p.Ile1737=) single nucleotide variant Early myoclonic encephalopathy [RCV001486908] Chr10:63200541 [GRCh38]
Chr10:64960301 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5136G>A (p.Gly1712=) single nucleotide variant Early myoclonic encephalopathy [RCV001437364] Chr10:63200616 [GRCh38]
Chr10:64960376 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4791T>C (p.Ser1597=) single nucleotide variant Early myoclonic encephalopathy [RCV001470289] Chr10:63206878 [GRCh38]
Chr10:64966638 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+10del deletion Early myoclonic encephalopathy [RCV001463396] Chr10:63465485 [GRCh38]
Chr10:65225245 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6789C>T (p.Asp2263=) single nucleotide variant Early myoclonic encephalopathy [RCV001521835]|not provided [RCV001806217] Chr10:63185604 [GRCh38]
Chr10:64945364 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.3984T>A (p.Arg1328=) single nucleotide variant Early myoclonic encephalopathy [RCV001521836]|not provided [RCV004718871] Chr10:63207685 [GRCh38]
Chr10:64967445 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1390T>A (p.Ser464Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001521837]|not provided [RCV001615209] Chr10:63214777 [GRCh38]
Chr10:64974537 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.5577C>T (p.Val1859=) single nucleotide variant Early myoclonic encephalopathy [RCV001489543] Chr10:63197478 [GRCh38]
Chr10:64957238 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6858A>G (p.Pro2286=) single nucleotide variant Early myoclonic encephalopathy [RCV001493150] Chr10:63184711 [GRCh38]
Chr10:64944471 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2562T>C (p.Tyr854=) single nucleotide variant Early myoclonic encephalopathy [RCV001456274] Chr10:63213605 [GRCh38]
Chr10:64973365 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6606C>T (p.Asn2202=) single nucleotide variant Early myoclonic encephalopathy [RCV001466500] Chr10:63186348 [GRCh38]
Chr10:64946108 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.951A>G (p.Ser317=) single nucleotide variant Early myoclonic encephalopathy [RCV001506395] Chr10:63215327 [GRCh38]
Chr10:64975087 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2784C>T (p.Ser928=) single nucleotide variant Early myoclonic encephalopathy [RCV001489936] Chr10:63209146 [GRCh38]
Chr10:64968906 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3552G>A (p.Arg1184=) single nucleotide variant Early myoclonic encephalopathy [RCV001469086] Chr10:63208117 [GRCh38]
Chr10:64967877 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4038A>G (p.Ala1346=) single nucleotide variant Early myoclonic encephalopathy [RCV001457389] Chr10:63207631 [GRCh38]
Chr10:64967391 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4284A>G (p.Thr1428=) single nucleotide variant Early myoclonic encephalopathy [RCV001427434] Chr10:63207385 [GRCh38]
Chr10:64967145 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.270C>T (p.Ala90=) single nucleotide variant Early myoclonic encephalopathy [RCV001409258] Chr10:63380381 [GRCh38]
Chr10:65140141 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5862+10_5862+11del deletion Early myoclonic encephalopathy [RCV001448670] Chr10:63193334..63193335 [GRCh38]
Chr10:64953094..64953095 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3681T>C (p.Leu1227=) single nucleotide variant Early myoclonic encephalopathy [RCV001430306] Chr10:63207988 [GRCh38]
Chr10:64967748 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2935C>T (p.Leu979=) single nucleotide variant Early myoclonic encephalopathy [RCV001446291] Chr10:63208734 [GRCh38]
Chr10:64968494 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2358A>T (p.Pro786=) single nucleotide variant Early myoclonic encephalopathy [RCV001443848] Chr10:63213809 [GRCh38]
Chr10:64973569 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3779C>G (p.Ser1260Cys) single nucleotide variant See cases [RCV001420656]|not provided [RCV004692684] Chr10:63207890 [GRCh38]
Chr10:64967650 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3684C>T (p.Ser1228=) single nucleotide variant Early myoclonic encephalopathy [RCV001432938] Chr10:63207985 [GRCh38]
Chr10:64967745 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5301A>T (p.Val1767=) single nucleotide variant Early myoclonic encephalopathy [RCV001405243] Chr10:63198703 [GRCh38]
Chr10:64958463 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4170G>A (p.Thr1390=) single nucleotide variant Early myoclonic encephalopathy [RCV001444214] Chr10:63207499 [GRCh38]
Chr10:64967259 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.333+10A>G single nucleotide variant Early myoclonic encephalopathy [RCV001410085] Chr10:63380308 [GRCh38]
Chr10:65140068 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.448-10A>G single nucleotide variant Early myoclonic encephalopathy [RCV001446655] Chr10:63219993 [GRCh38]
Chr10:64979753 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4033C>T (p.Leu1345=) single nucleotide variant Early myoclonic encephalopathy [RCV001405372] Chr10:63207636 [GRCh38]
Chr10:64967396 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3300T>C (p.Ser1100=) single nucleotide variant Early myoclonic encephalopathy [RCV001407803]|JMJD1C-related disorder [RCV004749683] Chr10:63208369 [GRCh38]
Chr10:64968129 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6844T>C (p.Leu2282=) single nucleotide variant Early myoclonic encephalopathy [RCV001444412] Chr10:63184725 [GRCh38]
Chr10:64944485 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1248C>G (p.Pro416=) single nucleotide variant Early myoclonic encephalopathy [RCV001423656] Chr10:63214919 [GRCh38]
Chr10:64974679 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3819G>A (p.Thr1273=) single nucleotide variant Early myoclonic encephalopathy [RCV001444518] Chr10:63207850 [GRCh38]
Chr10:64967610 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2445A>G (p.Leu815=) single nucleotide variant Early myoclonic encephalopathy [RCV001408230] Chr10:63213722 [GRCh38]
Chr10:64973482 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5241C>T (p.His1747=) single nucleotide variant Early myoclonic encephalopathy [RCV001437927] Chr10:63200511 [GRCh38]
Chr10:64960271 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6054A>G (p.Gln2018=) single nucleotide variant Early myoclonic encephalopathy [RCV001440330] Chr10:63192960 [GRCh38]
Chr10:64952720 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3870T>C (p.His1290=) single nucleotide variant Early myoclonic encephalopathy [RCV001434926] Chr10:63207799 [GRCh38]
Chr10:64967559 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7620T>C (p.Asn2540=) single nucleotide variant Early myoclonic encephalopathy [RCV001417808] Chr10:63168048 [GRCh38]
Chr10:64927808 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7359C>T (p.Phe2453=) single nucleotide variant Early myoclonic encephalopathy [RCV001408478] Chr10:63176339 [GRCh38]
Chr10:64936099 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5268C>T (p.Tyr1756=) single nucleotide variant Early myoclonic encephalopathy [RCV001401645] Chr10:63200484 [GRCh38]
Chr10:64960244 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3699T>C (p.Thr1233=) single nucleotide variant Early myoclonic encephalopathy [RCV001419538] Chr10:63207970 [GRCh38]
Chr10:64967730 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.381A>G (p.Ala127=) single nucleotide variant Early myoclonic encephalopathy [RCV001442965] Chr10:63264717 [GRCh38]
Chr10:65024477 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3207T>C (p.Asp1069=) single nucleotide variant Early myoclonic encephalopathy [RCV001445570] Chr10:63208462 [GRCh38]
Chr10:64968222 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.120G>T (p.Gly40=) single nucleotide variant Early myoclonic encephalopathy [RCV001406298] Chr10:63465543 [GRCh38]
Chr10:65225303 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.333+10A>T single nucleotide variant Early myoclonic encephalopathy [RCV001445529] Chr10:63380308 [GRCh38]
Chr10:65140068 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5735-4G>A single nucleotide variant Early myoclonic encephalopathy [RCV001411502] Chr10:63193476 [GRCh38]
Chr10:64953236 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.684A>G (p.Leu228=) single nucleotide variant Early myoclonic encephalopathy [RCV001394005] Chr10:63215691 [GRCh38]
Chr10:64975451 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2499A>G (p.Gln833=) single nucleotide variant Early myoclonic encephalopathy [RCV001404319] Chr10:63213668 [GRCh38]
Chr10:64973428 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.57C>T (p.Val19=) single nucleotide variant Early myoclonic encephalopathy [RCV001411614] Chr10:63465606 [GRCh38]
Chr10:65225366 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4893A>G (p.Ser1631=) single nucleotide variant Early myoclonic encephalopathy [RCV001489710] Chr10:63206776 [GRCh38]
Chr10:64966536 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5862+8A>G single nucleotide variant Early myoclonic encephalopathy [RCV001489817] Chr10:63193337 [GRCh38]
Chr10:64953097 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3588A>T (p.Thr1196=) single nucleotide variant Early myoclonic encephalopathy [RCV001519612] Chr10:63208081 [GRCh38]
Chr10:64967841 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4299A>G (p.Val1433=) single nucleotide variant Early myoclonic encephalopathy [RCV001495832] Chr10:63207370 [GRCh38]
Chr10:64967130 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5775A>G (p.Glu1925=) single nucleotide variant Early myoclonic encephalopathy [RCV001461998] Chr10:63193432 [GRCh38]
Chr10:64953192 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6909G>A (p.Leu2303=) single nucleotide variant Early myoclonic encephalopathy [RCV001458117] Chr10:63184660 [GRCh38]
Chr10:64944420 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4821T>C (p.Tyr1607=) single nucleotide variant Early myoclonic encephalopathy [RCV001468813] Chr10:63206848 [GRCh38]
Chr10:64966608 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2370T>C (p.Val790=) single nucleotide variant Early myoclonic encephalopathy [RCV001473312] Chr10:63213797 [GRCh38]
Chr10:64973557 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1015+9C>T single nucleotide variant Early myoclonic encephalopathy [RCV001495633] Chr10:63215254 [GRCh38]
Chr10:64975014 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3909A>G (p.Ala1303=) single nucleotide variant Early myoclonic encephalopathy [RCV001479418] Chr10:63207760 [GRCh38]
Chr10:64967520 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.477C>T (p.Leu159=) single nucleotide variant Early myoclonic encephalopathy [RCV001458533] Chr10:63219954 [GRCh38]
Chr10:64979714 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5075-10G>A single nucleotide variant Early myoclonic encephalopathy [RCV001462259] Chr10:63200687 [GRCh38]
Chr10:64960447 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6027G>T (p.Leu2009=) single nucleotide variant Early myoclonic encephalopathy [RCV001510575] Chr10:63192987 [GRCh38]
Chr10:64952747 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4843A>C (p.Arg1615=) single nucleotide variant Early myoclonic encephalopathy [RCV001451872]|JMJD1C-related disorder [RCV003973313] Chr10:63206826 [GRCh38]
Chr10:64966586 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1527T>A (p.Val509=) single nucleotide variant Early myoclonic encephalopathy [RCV001506920] Chr10:63214640 [GRCh38]
Chr10:64974400 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7440T>C (p.Asp2480=) single nucleotide variant Early myoclonic encephalopathy [RCV001462730] Chr10:63168528 [GRCh38]
Chr10:64928288 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6292-10del deletion Early myoclonic encephalopathy [RCV001516660] Chr10:63189456 [GRCh38]
Chr10:64949216 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.3288A>G (p.Thr1096=) single nucleotide variant Early myoclonic encephalopathy [RCV001516661] Chr10:63208381 [GRCh38]
Chr10:64968141 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2868-8C>T single nucleotide variant Early myoclonic encephalopathy [RCV001476590] Chr10:63208809 [GRCh38]
Chr10:64968569 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+10T>C single nucleotide variant Early myoclonic encephalopathy [RCV001511535]|not provided [RCV001692397] Chr10:63465485 [GRCh38]
Chr10:65225245 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.982_984del (p.Lys328del) deletion Early myoclonic encephalopathy [RCV001516794] Chr10:63215294..63215296 [GRCh38]
Chr10:64975054..64975056 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.5271T>C (p.Phe1757=) single nucleotide variant Early myoclonic encephalopathy [RCV001517214] Chr10:63200481 [GRCh38]
Chr10:64960241 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.6876T>C (p.Asn2292=) single nucleotide variant Early myoclonic encephalopathy [RCV001459781] Chr10:63184693 [GRCh38]
Chr10:64944453 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.405A>G (p.Gln135=) single nucleotide variant Early myoclonic encephalopathy [RCV001487667] Chr10:63264693 [GRCh38]
Chr10:65024453 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3402A>G (p.Gln1134=) single nucleotide variant Early myoclonic encephalopathy [RCV001477591] Chr10:63208267 [GRCh38]
Chr10:64968027 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1804C>G (p.Pro602Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001504525]|not provided [RCV004706240] Chr10:63214363 [GRCh38]
Chr10:64974123 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2520G>A (p.Gln840=) single nucleotide variant Early myoclonic encephalopathy [RCV001471224] Chr10:63213647 [GRCh38]
Chr10:64973407 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp) single nucleotide variant Early myoclonic encephalopathy [RCV001517768]|not provided [RCV004718859] Chr10:63168063 [GRCh38]
Chr10:64927823 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.7518T>C (p.Tyr2506=) single nucleotide variant Early myoclonic encephalopathy [RCV001481155] Chr10:63168450 [GRCh38]
Chr10:64928210 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5109T>C (p.Arg1703=) single nucleotide variant Early myoclonic encephalopathy [RCV001505610] Chr10:63200643 [GRCh38]
Chr10:64960403 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1071G>A (p.Glu357=) single nucleotide variant Early myoclonic encephalopathy [RCV001498395] Chr10:63215096 [GRCh38]
Chr10:64974856 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.933A>C (p.Pro311=) single nucleotide variant Early myoclonic encephalopathy [RCV001481306] Chr10:63215345 [GRCh38]
Chr10:64975105 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2514G>A (p.Gln838=) single nucleotide variant Early myoclonic encephalopathy [RCV001514737] Chr10:63213653 [GRCh38]
Chr10:64973413 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2355T>G (p.Gly785=) single nucleotide variant Early myoclonic encephalopathy [RCV001450816] Chr10:63213812 [GRCh38]
Chr10:64973572 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.594A>G (p.Arg198=) single nucleotide variant Early myoclonic encephalopathy [RCV001425241] Chr10:63217291 [GRCh38]
Chr10:64977051 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5902C>T (p.Leu1968=) single nucleotide variant Early myoclonic encephalopathy [RCV001485934] Chr10:63193112 [GRCh38]
Chr10:64952872 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.66G>A (p.Glu22=) single nucleotide variant Early myoclonic encephalopathy [RCV001495978] Chr10:63465597 [GRCh38]
Chr10:65225357 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.123C>T (p.Val41=) single nucleotide variant Early myoclonic encephalopathy [RCV001483024] Chr10:63465540 [GRCh38]
Chr10:65225300 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.375C>T (p.Val125=) single nucleotide variant Early myoclonic encephalopathy [RCV001503217] Chr10:63264723 [GRCh38]
Chr10:65024483 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3498T>C (p.His1166=) single nucleotide variant Early myoclonic encephalopathy [RCV001406174] Chr10:63208171 [GRCh38]
Chr10:64967931 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3717T>C (p.Asn1239=) single nucleotide variant Early myoclonic encephalopathy [RCV001512835] Chr10:63207952 [GRCh38]
Chr10:64967712 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1008A>T (p.Ser336=) single nucleotide variant Early myoclonic encephalopathy [RCV001403985]|JMJD1C-related disorder [RCV003928893] Chr10:63215270 [GRCh38]
Chr10:64975030 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3645C>T (p.His1215=) single nucleotide variant Early myoclonic encephalopathy [RCV001455753] Chr10:63208024 [GRCh38]
Chr10:64967784 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7074C>T (p.Leu2358=) single nucleotide variant Early myoclonic encephalopathy [RCV001502071] Chr10:63183457 [GRCh38]
Chr10:64943217 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6402G>A (p.Glu2134=) single nucleotide variant Early myoclonic encephalopathy [RCV001467630] Chr10:63189336 [GRCh38]
Chr10:64949096 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4359A>G (p.Thr1453=) single nucleotide variant Early myoclonic encephalopathy [RCV001523665] Chr10:63207310 [GRCh38]
Chr10:64967070 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1867A>G (p.Ile623Val) single nucleotide variant Early myoclonic encephalopathy [RCV001400147]|not specified [RCV004037810] Chr10:63214300 [GRCh38]
Chr10:64974060 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.6771T>C (p.Val2257=) single nucleotide variant Early myoclonic encephalopathy [RCV001415924] Chr10:63185622 [GRCh38]
Chr10:64945382 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5734+9A>G single nucleotide variant Early myoclonic encephalopathy [RCV001505402] Chr10:63194277 [GRCh38]
Chr10:64954037 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7134A>G (p.Lys2378=) single nucleotide variant Early myoclonic encephalopathy [RCV001427619] Chr10:63177807 [GRCh38]
Chr10:64937567 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3693T>G (p.Thr1231=) single nucleotide variant Early myoclonic encephalopathy [RCV001501050] Chr10:63207976 [GRCh38]
Chr10:64967736 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6285A>T (p.Gly2095=) single nucleotide variant Early myoclonic encephalopathy [RCV001485376] Chr10:63190900 [GRCh38]
Chr10:64950660 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4617C>T (p.Ser1539=) single nucleotide variant Early myoclonic encephalopathy [RCV001437284] Chr10:63207052 [GRCh38]
Chr10:64966812 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1480C>T (p.Leu494=) single nucleotide variant Early myoclonic encephalopathy [RCV001471646] Chr10:63214687 [GRCh38]
Chr10:64974447 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.987G>A (p.Glu329=) single nucleotide variant Early myoclonic encephalopathy [RCV001398581] Chr10:63215291 [GRCh38]
Chr10:64975051 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.906G>A (p.Gln302=) single nucleotide variant Early myoclonic encephalopathy [RCV001426276] Chr10:63215372 [GRCh38]
Chr10:64975132 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5766T>G (p.Thr1922=) single nucleotide variant Early myoclonic encephalopathy [RCV001477058] Chr10:63193441 [GRCh38]
Chr10:64953201 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5811C>T (p.Asn1937=) single nucleotide variant Early myoclonic encephalopathy [RCV001501153] Chr10:63193396 [GRCh38]
Chr10:64953156 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3780C>T (p.Ser1260=) single nucleotide variant Early myoclonic encephalopathy [RCV001418654] Chr10:63207889 [GRCh38]
Chr10:64967649 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4548T>C (p.Leu1516=) single nucleotide variant Early myoclonic encephalopathy [RCV001484047] Chr10:63207121 [GRCh38]
Chr10:64966881 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7092C>G (p.Leu2364=) single nucleotide variant Early myoclonic encephalopathy [RCV001424890] Chr10:63177849 [GRCh38]
Chr10:64937609 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.554-11dup duplication Early myoclonic encephalopathy [RCV001520045]|JMJD1C-related disorder [RCV003966123] Chr10:63217334..63217335 [GRCh38]
Chr10:64977094..64977095 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_032776.3(JMJD1C):c.4125C>T (p.Val1375=) single nucleotide variant Early myoclonic encephalopathy [RCV001424991] Chr10:63207544 [GRCh38]
Chr10:64967304 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7168C>G (p.Leu2390Val) single nucleotide variant not specified [RCV002249044] Chr10:63177773 [GRCh38]
Chr10:64937533 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.4962A>T (p.Gln1654His) single nucleotide variant not specified [RCV002247911] Chr10:63206707 [GRCh38]
Chr10:64966467 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7225-2A>G single nucleotide variant Neurodevelopmental disorder [RCV001780027] Chr10:63176475 [GRCh38]
Chr10:64936235 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.173A>G (p.Tyr58Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003772165]|not provided [RCV001784128] Chr10:63380478 [GRCh38]
Chr10:65140238 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1516C>G (p.Pro506Ala) single nucleotide variant Benign familial infantile epilepsy [RCV001808939]|Early myoclonic encephalopathy [RCV002541475] Chr10:63214651 [GRCh38]
Chr10:64974411 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.5660C>G (p.Ala1887Gly) single nucleotide variant not provided [RCV001784126] Chr10:63194360 [GRCh38]
Chr10:64954120 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4999G>T (p.Asp1667Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV001869630]|not provided [RCV001814866] Chr10:63206670 [GRCh38]
Chr10:64966430 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.411T>G (p.Asp137Glu) single nucleotide variant not provided [RCV001806909] Chr10:63264687 [GRCh38]
Chr10:65024447 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4394G>A (p.Ser1465Asn) single nucleotide variant not provided [RCV001814835] Chr10:63207275 [GRCh38]
Chr10:64967035 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4061T>C (p.Ile1354Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001984917] Chr10:63207608 [GRCh38]
Chr10:64967368 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.168+1G>T single nucleotide variant Early myoclonic encephalopathy [RCV001929193] Chr10:63465494 [GRCh38]
Chr10:65225254 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1292A>C (p.Gln431Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001911104] Chr10:63214875 [GRCh38]
Chr10:64974635 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3253C>T (p.Pro1085Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002044710] Chr10:63208416 [GRCh38]
Chr10:64968176 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_64572967)_(65225422_?)del deletion Charcot-Marie-Tooth disease, type I [RCV001874903]|Early myoclonic encephalopathy [RCV003120732] Chr10:64572967..65225422 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2441G>A (p.Arg814Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002024223] Chr10:63213726 [GRCh38]
Chr10:64973486 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4576A>G (p.Thr1526Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001964171] Chr10:63207093 [GRCh38]
Chr10:64966853 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2882A>G (p.Lys961Arg) single nucleotide variant JMJD1C-associated Neurodevelopmental Disorder [RCV001839193] Chr10:63208787 [GRCh38]
Chr10:64968547 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1592T>C (p.Leu531Pro) single nucleotide variant Early myoclonic encephalopathy [RCV002024247] Chr10:63214575 [GRCh38]
Chr10:64974335 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1798A>C (p.Ile600Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001908162] Chr10:63214369 [GRCh38]
Chr10:64974129 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5069G>A (p.Ser1690Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002002184] Chr10:63206600 [GRCh38]
Chr10:64966360 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7533+17C>T single nucleotide variant Early myoclonic encephalopathy [RCV001988523] Chr10:63168418 [GRCh38]
Chr10:64928178 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4763C>T (p.Ala1588Val) single nucleotide variant Early myoclonic encephalopathy [RCV001863884] Chr10:63206906 [GRCh38]
Chr10:64966666 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2425_2427del (p.Leu809del) deletion Early myoclonic encephalopathy [RCV001894833] Chr10:63213740..63213742 [GRCh38]
Chr10:64973500..64973502 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2099A>G (p.Lys700Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001964985] Chr10:63214068 [GRCh38]
Chr10:64973828 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1738A>G (p.Thr580Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001945133]|not provided [RCV005428440] Chr10:63214429 [GRCh38]
Chr10:64974189 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.2119A>G (p.Lys707Glu) single nucleotide variant Early myoclonic encephalopathy [RCV002022019]|not provided [RCV003490988] Chr10:63214048 [GRCh38]
Chr10:64973808 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2749A>G (p.Ile917Val) single nucleotide variant Early myoclonic encephalopathy [RCV002040741] Chr10:63209181 [GRCh38]
Chr10:64968941 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7123A>G (p.Ile2375Val) single nucleotide variant Early myoclonic encephalopathy [RCV002004354] Chr10:63177818 [GRCh38]
Chr10:64937578 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4918C>G (p.Gln1640Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001912196] Chr10:63206751 [GRCh38]
Chr10:64966511 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2902C>T (p.Arg968Trp) single nucleotide variant Early myoclonic encephalopathy [RCV001965493]|not specified [RCV004043093] Chr10:63208767 [GRCh38]
Chr10:64968527 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4655A>G (p.Lys1552Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001892332] Chr10:63207014 [GRCh38]
Chr10:64966774 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.106_114dup (p.Ser36_Arg38dup) duplication Early myoclonic encephalopathy [RCV001895262] Chr10:63465548..63465549 [GRCh38]
Chr10:65225308..65225309 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6292-3T>A single nucleotide variant Early myoclonic encephalopathy [RCV001895623] Chr10:63189449 [GRCh38]
Chr10:64949209 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4093C>G (p.His1365Asp) single nucleotide variant Early myoclonic encephalopathy [RCV002003781] Chr10:63207576 [GRCh38]
Chr10:64967336 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1471A>G (p.Met491Val) single nucleotide variant Early myoclonic encephalopathy [RCV001891177] Chr10:63214696 [GRCh38]
Chr10:64974456 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2240C>T (p.Thr747Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003600422]|JMJD1C-associated Neurodevelopmental Disorder [RCV001839206] Chr10:63213927 [GRCh38]
Chr10:64973687 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2957C>G (p.Thr986Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001970518] Chr10:63208712 [GRCh38]
Chr10:64968472 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5350A>G (p.Met1784Val) single nucleotide variant Early myoclonic encephalopathy [RCV001895668]|not provided [RCV003416538] Chr10:63198654 [GRCh38]
Chr10:64958414 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.4301C>T (p.Ser1434Phe) single nucleotide variant Early myoclonic encephalopathy [RCV001872101] Chr10:63207368 [GRCh38]
Chr10:64967128 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3386C>T (p.Ala1129Val) single nucleotide variant Early myoclonic encephalopathy [RCV001873087] Chr10:63208283 [GRCh38]
Chr10:64968043 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3018G>C (p.Arg1006Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001912363] Chr10:63208651 [GRCh38]
Chr10:64968411 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6410A>C (p.Glu2137Ala) single nucleotide variant JMJD1C-associated Neurodevelopmental Disorder [RCV001839133] Chr10:63189328 [GRCh38]
Chr10:64949088 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4694C>T (p.Thr1565Ile) single nucleotide variant Early myoclonic encephalopathy [RCV001894536] Chr10:63206975 [GRCh38]
Chr10:64966735 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2842A>G (p.Lys948Glu) single nucleotide variant Early myoclonic encephalopathy [RCV001986345] Chr10:63209088 [GRCh38]
Chr10:64968848 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1541A>G (p.Asn514Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001907967] Chr10:63214626 [GRCh38]
Chr10:64974386 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4990A>T (p.Ile1664Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001907949] Chr10:63206679 [GRCh38]
Chr10:64966439 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3910T>G (p.Ser1304Ala) single nucleotide variant Early myoclonic encephalopathy [RCV001871370] Chr10:63207759 [GRCh38]
Chr10:64967519 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1720C>G (p.Leu574Val) single nucleotide variant Early myoclonic encephalopathy [RCV001986629]|not specified [RCV004927789] Chr10:63214447 [GRCh38]
Chr10:64974207 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3760A>G (p.Ile1254Val) single nucleotide variant Early myoclonic encephalopathy [RCV002015975] Chr10:63207909 [GRCh38]
Chr10:64967669 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7533+4A>G single nucleotide variant Early myoclonic encephalopathy [RCV001999533] Chr10:63168431 [GRCh38]
Chr10:64928191 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6491A>G (p.Glu2164Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002001161] Chr10:63189247 [GRCh38]
Chr10:64949007 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4379G>C (p.Ser1460Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002049766] Chr10:63207290 [GRCh38]
Chr10:64967050 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3286A>T (p.Thr1096Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001975699] Chr10:63208383 [GRCh38]
Chr10:64968143 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6329A>G (p.Asp2110Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002029899] Chr10:63189409 [GRCh38]
Chr10:64949169 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4100A>C (p.Lys1367Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001981099] Chr10:63207569 [GRCh38]
Chr10:64967329 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2912C>A (p.Ala971Glu) single nucleotide variant Early myoclonic encephalopathy [RCV002026092] Chr10:63208757 [GRCh38]
Chr10:64968517 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6386T>C (p.Ile2129Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001887461] Chr10:63189352 [GRCh38]
Chr10:64949112 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3640C>T (p.His1214Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV002046350] Chr10:63208029 [GRCh38]
Chr10:64967789 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.525A>T (p.Glu175Asp) single nucleotide variant Early myoclonic encephalopathy [RCV002018928] Chr10:63219906 [GRCh38]
Chr10:64979666 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5917T>A (p.Ser1973Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001921784] Chr10:63193097 [GRCh38]
Chr10:64952857 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.517G>T (p.Val173Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001978551] Chr10:63219914 [GRCh38]
Chr10:64979674 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7348C>G (p.Leu2450Val) single nucleotide variant Early myoclonic encephalopathy [RCV001901994]|not specified [RCV004927728] Chr10:63176350 [GRCh38]
Chr10:64936110 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6978A>T (p.Lys2326Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001995677] Chr10:63183553 [GRCh38]
Chr10:64943313 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2259C>G (p.Thr753=) single nucleotide variant Early myoclonic encephalopathy [RCV001951965] Chr10:63213908 [GRCh38]
Chr10:64973668 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.4855A>C (p.Lys1619Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002048378] Chr10:63206814 [GRCh38]
Chr10:64966574 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5734+5G>A single nucleotide variant Early myoclonic encephalopathy [RCV001991350] Chr10:63194281 [GRCh38]
Chr10:64954041 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2338C>T (p.His780Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV002048514] Chr10:63213829 [GRCh38]
Chr10:64973589 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3391G>A (p.Ala1131Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001995837] Chr10:63208278 [GRCh38]
Chr10:64968038 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.556C>T (p.Pro186Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001915871]|not specified [RCV002246588] Chr10:63217329 [GRCh38]
Chr10:64977089 [GRCh37]
Chr10:10q21.3		 benign|uncertain significance
NM_032776.3(JMJD1C):c.103C>T (p.Arg35Ter) single nucleotide variant Early myoclonic encephalopathy [RCV001917310] Chr10:63465560 [GRCh38]
Chr10:65225320 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6119G>A (p.Arg2040Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002013610] Chr10:63191066 [GRCh38]
Chr10:64950826 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4285T>C (p.Ser1429Pro) single nucleotide variant Early myoclonic encephalopathy [RCV001989165] Chr10:63207384 [GRCh38]
Chr10:64967144 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4898A>G (p.Glu1633Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001995999] Chr10:63206771 [GRCh38]
Chr10:64966531 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1390_1391delinsAT (p.Ser464Met) indel Early myoclonic encephalopathy [RCV002016028] Chr10:63214776..63214777 [GRCh38]
Chr10:64974536..64974537 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1924C>T (p.Pro642Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001877233] Chr10:63214243 [GRCh38]
Chr10:64974003 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.624C>T (p.Gly208=) single nucleotide variant Early myoclonic encephalopathy [RCV001958453] Chr10:63217261 [GRCh38]
Chr10:64977021 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.61G>A (p.Asp21Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001978583] Chr10:63465602 [GRCh38]
Chr10:65225362 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5634G>T (p.Lys1878Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001999432] Chr10:63197421 [GRCh38]
Chr10:64957181 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.835C>T (p.Arg279Cys) single nucleotide variant Early myoclonic encephalopathy [RCV001884646] Chr10:63215443 [GRCh38]
Chr10:64975203 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4610A>G (p.Gln1537Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001939965] Chr10:63207059 [GRCh38]
Chr10:64966819 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5586A>C (p.Lys1862Asn) single nucleotide variant Early myoclonic encephalopathy [RCV001881887] Chr10:63197469 [GRCh38]
Chr10:64957229 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2266C>T (p.Pro756Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001961388] Chr10:63213901 [GRCh38]
Chr10:64973661 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3769C>T (p.Pro1257Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002048611] Chr10:63207900 [GRCh38]
Chr10:64967660 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2885C>G (p.Ala962Gly) single nucleotide variant Early myoclonic encephalopathy [RCV001904610] Chr10:63208784 [GRCh38]
Chr10:64968544 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4472C>T (p.Ala1491Val) single nucleotide variant Early myoclonic encephalopathy [RCV001959366] Chr10:63207197 [GRCh38]
Chr10:64966957 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.67G>A (p.Ala23Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002035636]|not specified [RCV005350845] Chr10:63465596 [GRCh38]
Chr10:65225356 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6841C>G (p.Leu2281Val) single nucleotide variant Early myoclonic encephalopathy [RCV001925977] Chr10:63184728 [GRCh38]
Chr10:64944488 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2780C>T (p.Pro927Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001916637] Chr10:63209150 [GRCh38]
Chr10:64968910 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5542G>A (p.Ala1848Thr) single nucleotide variant Early myoclonic encephalopathy [RCV001915752] Chr10:63197513 [GRCh38]
Chr10:64957273 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6166G>C (p.Val2056Leu) single nucleotide variant Early myoclonic encephalopathy [RCV001922536] Chr10:63191019 [GRCh38]
Chr10:64950779 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3632C>T (p.Pro1211Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002029863] Chr10:63208037 [GRCh38]
Chr10:64967797 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2861A>G (p.His954Arg) single nucleotide variant Early myoclonic encephalopathy [RCV001973253]|JMJD1C-related Neurodevelopmental disorder [RCV002266077] Chr10:63209069 [GRCh38]
Chr10:64968829 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1757A>G (p.Asn586Ser) single nucleotide variant Early myoclonic encephalopathy [RCV001899113]|not specified [RCV004042640] Chr10:63214410 [GRCh38]
Chr10:64974170 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4636T>A (p.Tyr1546Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002017297] Chr10:63207033 [GRCh38]
Chr10:64966793 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6213T>A (p.Thr2071=) single nucleotide variant Early myoclonic encephalopathy [RCV002191957] Chr10:63190972 [GRCh38]
Chr10:64950732 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6024A>G (p.Pro2008=) single nucleotide variant Early myoclonic encephalopathy [RCV002145560] Chr10:63192990 [GRCh38]
Chr10:64952750 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7401+12C>T single nucleotide variant Early myoclonic encephalopathy [RCV002084666] Chr10:63176285 [GRCh38]
Chr10:64936045 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6961+14C>T single nucleotide variant Early myoclonic encephalopathy [RCV002072888] Chr10:63184594 [GRCh38]
Chr10:64944354 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5276+15G>T single nucleotide variant Early myoclonic encephalopathy [RCV002127383] Chr10:63200461 [GRCh38]
Chr10:64960221 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.3885C>T (p.Ser1295=) single nucleotide variant Early myoclonic encephalopathy [RCV002188216] Chr10:63207784 [GRCh38]
Chr10:64967544 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7254A>G (p.Leu2418=) single nucleotide variant Early myoclonic encephalopathy [RCV002206232] Chr10:63176444 [GRCh38]
Chr10:64936204 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4473A>G (p.Ala1491=) single nucleotide variant Early myoclonic encephalopathy [RCV002167181] Chr10:63207196 [GRCh38]
Chr10:64966956 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6750A>G (p.Lys2250=) single nucleotide variant Early myoclonic encephalopathy [RCV002192425] Chr10:63185643 [GRCh38]
Chr10:64945403 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2841A>G (p.Thr947=) single nucleotide variant Early myoclonic encephalopathy [RCV002146014] Chr10:63209089 [GRCh38]
Chr10:64968849 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.334-20A>T single nucleotide variant Early myoclonic encephalopathy [RCV002165805] Chr10:63264784 [GRCh38]
Chr10:65024544 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2424A>G (p.Leu808=) single nucleotide variant Early myoclonic encephalopathy [RCV002215946] Chr10:63213743 [GRCh38]
Chr10:64973503 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4713A>G (p.Ser1571=) single nucleotide variant Early myoclonic encephalopathy [RCV002094915] Chr10:63206956 [GRCh38]
Chr10:64966716 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4659C>G (p.Ala1553=) single nucleotide variant Early myoclonic encephalopathy [RCV002152432] Chr10:63207010 [GRCh38]
Chr10:64966770 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2867+13G>T single nucleotide variant Early myoclonic encephalopathy [RCV002152947] Chr10:63209050 [GRCh38]
Chr10:64968810 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5484A>G (p.Lys1828=) single nucleotide variant Early myoclonic encephalopathy [RCV002197445] Chr10:63198520 [GRCh38]
Chr10:64958280 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6571-15T>C single nucleotide variant Early myoclonic encephalopathy [RCV002116082] Chr10:63186398 [GRCh38]
Chr10:64946158 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.2085A>G (p.Thr695=) single nucleotide variant Early myoclonic encephalopathy [RCV002093507] Chr10:63214082 [GRCh38]
Chr10:64973842 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6018G>A (p.Gln2006=) single nucleotide variant Early myoclonic encephalopathy [RCV002093513] Chr10:63192996 [GRCh38]
Chr10:64952756 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5862+18G>T single nucleotide variant Early myoclonic encephalopathy [RCV002193845] Chr10:63193327 [GRCh38]
Chr10:64953087 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.823-8_823-6del deletion Early myoclonic encephalopathy [RCV002153238] Chr10:63215461..63215463 [GRCh38]
Chr10:64975221..64975223 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6740-3dup duplication Early myoclonic encephalopathy [RCV002170752] Chr10:63185655..63185656 [GRCh38]
Chr10:64945415..64945416 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3027G>A (p.Gln1009=) single nucleotide variant Early myoclonic encephalopathy [RCV002197337]|not provided [RCV003228053] Chr10:63208642 [GRCh38]
Chr10:64968402 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7401+16T>C single nucleotide variant Early myoclonic encephalopathy [RCV002085580] Chr10:63176281 [GRCh38]
Chr10:64936041 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5868A>G (p.Leu1956=) single nucleotide variant Early myoclonic encephalopathy [RCV002117412] Chr10:63193146 [GRCh38]
Chr10:64952906 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6378C>T (p.Thr2126=) single nucleotide variant Early myoclonic encephalopathy [RCV002078833] Chr10:63189360 [GRCh38]
Chr10:64949120 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.554-15T>C single nucleotide variant Early myoclonic encephalopathy [RCV002088181] Chr10:63217346 [GRCh38]
Chr10:64977106 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1016-17T>C single nucleotide variant Early myoclonic encephalopathy [RCV002079788] Chr10:63215168 [GRCh38]
Chr10:64974928 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1617T>C (p.Pro539=) single nucleotide variant Early myoclonic encephalopathy [RCV002077960] Chr10:63214550 [GRCh38]
Chr10:64974310 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3441A>G (p.Pro1147=) single nucleotide variant Early myoclonic encephalopathy [RCV002114935] Chr10:63208228 [GRCh38]
Chr10:64967988 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.147C>T (p.Asp49=) single nucleotide variant Early myoclonic encephalopathy [RCV002099670] Chr10:63465516 [GRCh38]
Chr10:65225276 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5904G>C (p.Leu1968=) single nucleotide variant Early myoclonic encephalopathy [RCV002175701] Chr10:63193110 [GRCh38]
Chr10:64952870 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6962-20A>C single nucleotide variant Early myoclonic encephalopathy [RCV002217065] Chr10:63183589 [GRCh38]
Chr10:64943349 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5309T>C (p.Ile1770Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003093981]|not specified [RCV002247910] Chr10:63198695 [GRCh38]
Chr10:64958455 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6570+13G>T single nucleotide variant Early myoclonic encephalopathy [RCV002204313] Chr10:63189155 [GRCh38]
Chr10:64948915 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7402-19dup duplication Early myoclonic encephalopathy [RCV002176406] Chr10:63168584..63168585 [GRCh38]
Chr10:64928344..64928345 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6351T>C (p.Val2117=) single nucleotide variant Early myoclonic encephalopathy [RCV002157091] Chr10:63189387 [GRCh38]
Chr10:64949147 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5844A>C (p.Thr1948=) single nucleotide variant Early myoclonic encephalopathy [RCV002218510] Chr10:63193363 [GRCh38]
Chr10:64953123 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2482C>T (p.Leu828=) single nucleotide variant Early myoclonic encephalopathy [RCV002156105] Chr10:63213685 [GRCh38]
Chr10:64973445 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2661A>G (p.Glu887=) single nucleotide variant Early myoclonic encephalopathy [RCV002083575] Chr10:63213506 [GRCh38]
Chr10:64973266 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5169G>A (p.Glu1723=) single nucleotide variant Early myoclonic encephalopathy [RCV002217441] Chr10:63200583 [GRCh38]
Chr10:64960343 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3156G>A (p.Val1052=) single nucleotide variant Early myoclonic encephalopathy [RCV002183971] Chr10:63208513 [GRCh38]
Chr10:64968273 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1845G>A (p.Lys615=) single nucleotide variant Early myoclonic encephalopathy [RCV002099075] Chr10:63214322 [GRCh38]
Chr10:64974082 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1074T>C (p.Asp358=) single nucleotide variant Early myoclonic encephalopathy [RCV002164549] Chr10:63215093 [GRCh38]
Chr10:64974853 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2976A>G (p.Leu992=) single nucleotide variant Early myoclonic encephalopathy [RCV002156122] Chr10:63208693 [GRCh38]
Chr10:64968453 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5074+17_5074+21del deletion Early myoclonic encephalopathy [RCV002081742] Chr10:63206574..63206578 [GRCh38]
Chr10:64966334..64966338 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.588A>G (p.Val196=) single nucleotide variant Early myoclonic encephalopathy [RCV002139624] Chr10:63217297 [GRCh38]
Chr10:64977057 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7401+13T>C single nucleotide variant Early myoclonic encephalopathy [RCV002098993] Chr10:63176284 [GRCh38]
Chr10:64936044 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.7590C>T (p.His2530=) single nucleotide variant Early myoclonic encephalopathy [RCV002159137]|JMJD1C-related disorder [RCV003960889] Chr10:63168078 [GRCh38]
Chr10:64927838 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6077-11T>A single nucleotide variant Early myoclonic encephalopathy [RCV002137224] Chr10:63191119 [GRCh38]
Chr10:64950879 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3427C>T (p.Leu1143Phe) single nucleotide variant Early myoclonic encephalopathy [RCV002199935]|not specified [RCV004631948] Chr10:63208242 [GRCh38]
Chr10:64968002 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.5734+13T>G single nucleotide variant Early myoclonic encephalopathy [RCV002123279] Chr10:63194273 [GRCh38]
Chr10:64954033 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.822+14T>C single nucleotide variant Early myoclonic encephalopathy [RCV002175537]|not provided [RCV004706287] Chr10:63215539 [GRCh38]
Chr10:64975299 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.678+15T>C single nucleotide variant Early myoclonic encephalopathy [RCV002181138] Chr10:63217192 [GRCh38]
Chr10:64976952 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2391C>A (p.Pro797=) single nucleotide variant Early myoclonic encephalopathy [RCV002183656] Chr10:63213776 [GRCh38]
Chr10:64973536 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1404C>T (p.Ser468=) single nucleotide variant Early myoclonic encephalopathy [RCV002136332] Chr10:63214763 [GRCh38]
Chr10:64974523 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6951C>T (p.Cys2317=) single nucleotide variant Early myoclonic encephalopathy [RCV002180471] Chr10:63184618 [GRCh38]
Chr10:64944378 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6453T>C (p.Asn2151=) single nucleotide variant Early myoclonic encephalopathy [RCV003110466] Chr10:63189285 [GRCh38]
Chr10:64949045 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6504A>G (p.Leu2168=) single nucleotide variant Early myoclonic encephalopathy [RCV003121986] Chr10:63189234 [GRCh38]
Chr10:64948994 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6570+13G>A single nucleotide variant Early myoclonic encephalopathy [RCV003122049] Chr10:63189155 [GRCh38]
Chr10:64948915 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs) deletion TELO2-related intellectual disability-neurodevelopmental disorder [RCV003151944] Chr10:63214248 [GRCh38]
Chr10:64974008 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.843A>T (p.Gln281His) single nucleotide variant See cases [RCV002252490] Chr10:63215435 [GRCh38]
Chr10:64975195 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2219T>C (p.Leu740Pro) single nucleotide variant Neurodevelopmental disorder [RCV002273154] Chr10:63213948 [GRCh38]
Chr10:64973708 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3691A>C (p.Thr1231Pro) single nucleotide variant Early myoclonic encephalopathy [RCV002297653] Chr10:63207978 [GRCh38]
Chr10:64967738 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4271T>C (p.Ile1424Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002297767] Chr10:63207398 [GRCh38]
Chr10:64967158 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2965G>A (p.Asp989Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002297797] Chr10:63208704 [GRCh38]
Chr10:64968464 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2125G>A (p.Glu709Lys) single nucleotide variant not specified [RCV004315658] Chr10:63214042 [GRCh38]
Chr10:64973802 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1286A>G (p.Asn429Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002681847] Chr10:63214881 [GRCh38]
Chr10:64974641 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1006T>G (p.Ser336Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003012400] Chr10:63215272 [GRCh38]
Chr10:64975032 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:64995874-65166892)x1 copy number loss not provided [RCV002474905] Chr10:64995874..65166892 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1469C>T (p.Thr490Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002303042] Chr10:63214698 [GRCh38]
Chr10:64974458 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4921A>G (p.Arg1641Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002304819] Chr10:63206748 [GRCh38]
Chr10:64966508 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1744G>T (p.Ala582Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002299844] Chr10:63214423 [GRCh38]
Chr10:64974183 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.92G>T (p.Gly31Val) single nucleotide variant Early myoclonic encephalopathy [RCV002299137] Chr10:63465571 [GRCh38]
Chr10:65225331 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5629A>G (p.Arg1877Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002300179] Chr10:63197426 [GRCh38]
Chr10:64957186 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5548G>A (p.Glu1850Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002300399] Chr10:63197507 [GRCh38]
Chr10:64957267 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5511A>T (p.Arg1837Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002299649] Chr10:63197544 [GRCh38]
Chr10:64957304 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1229A>G (p.Asn410Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003600448]|not specified [RCV004169480] Chr10:63214938 [GRCh38]
Chr10:64974698 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4832A>T (p.Asp1611Val) single nucleotide variant Early myoclonic encephalopathy [RCV002880652] Chr10:63206837 [GRCh38]
Chr10:64966597 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1394C>T (p.Ser465Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002903901] Chr10:63214773 [GRCh38]
Chr10:64974533 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2940T>C (p.Asp980=) single nucleotide variant Early myoclonic encephalopathy [RCV002971729] Chr10:63208729 [GRCh38]
Chr10:64968489 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4519A>G (p.Ile1507Val) single nucleotide variant Early myoclonic encephalopathy [RCV002615707] Chr10:63207150 [GRCh38]
Chr10:64966910 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1347G>C (p.Arg449=) single nucleotide variant Early myoclonic encephalopathy [RCV002842332] Chr10:63214820 [GRCh38]
Chr10:64974580 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3243G>A (p.Lys1081=) single nucleotide variant Early myoclonic encephalopathy [RCV002842804] Chr10:63208426 [GRCh38]
Chr10:64968186 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1333G>A (p.Glu445Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002908024] Chr10:63214834 [GRCh38]
Chr10:64974594 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.823-13T>A single nucleotide variant Early myoclonic encephalopathy [RCV003033913] Chr10:63215468 [GRCh38]
Chr10:64975228 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6831-20G>A single nucleotide variant Early myoclonic encephalopathy [RCV002685572] Chr10:63184758 [GRCh38]
Chr10:64944518 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.223T>C (p.Tyr75His) single nucleotide variant Early myoclonic encephalopathy [RCV002731573] Chr10:63380428 [GRCh38]
Chr10:65140188 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3482G>T (p.Gly1161Val) single nucleotide variant Early myoclonic encephalopathy [RCV002727258] Chr10:63208187 [GRCh38]
Chr10:64967947 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4155G>A (p.Met1385Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002861500] Chr10:63207514 [GRCh38]
Chr10:64967274 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3551G>C (p.Arg1184Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003014941] Chr10:63208118 [GRCh38]
Chr10:64967878 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5275C>T (p.Arg1759Trp) single nucleotide variant Early myoclonic encephalopathy [RCV003075357] Chr10:63200477 [GRCh38]
Chr10:64960237 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1168G>A (p.Asp390Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002613476] Chr10:63214999 [GRCh38]
Chr10:64974759 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4874G>T (p.Gly1625Val) single nucleotide variant Early myoclonic encephalopathy [RCV003013710] Chr10:63206795 [GRCh38]
Chr10:64966555 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2452G>A (p.Ala818Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002904435] Chr10:63213715 [GRCh38]
Chr10:64973475 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3359A>T (p.Asp1120Val) single nucleotide variant not specified [RCV004108214] Chr10:63208310 [GRCh38]
Chr10:64968070 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5756C>T (p.Ala1919Val) single nucleotide variant Early myoclonic encephalopathy [RCV002816473] Chr10:63193451 [GRCh38]
Chr10:64953211 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.671A>C (p.Asn224Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003032744] Chr10:63217214 [GRCh38]
Chr10:64976974 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.554-17C>G single nucleotide variant Early myoclonic encephalopathy [RCV002996519] Chr10:63217348 [GRCh38]
Chr10:64977108 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7520A>T (p.Asp2507Val) single nucleotide variant Early myoclonic encephalopathy [RCV002904297] Chr10:63168448 [GRCh38]
Chr10:64928208 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3100C>T (p.Pro1034Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002947130] Chr10:63208569 [GRCh38]
Chr10:64968329 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3408G>T (p.Leu1136=) single nucleotide variant Early myoclonic encephalopathy [RCV002839274] Chr10:63208261 [GRCh38]
Chr10:64968021 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6364CCA[1] (p.Pro2123del) microsatellite Early myoclonic encephalopathy [RCV002904346] Chr10:63189369..63189371 [GRCh38]
Chr10:64949129..64949131 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6513G>A (p.Lys2171=) single nucleotide variant Early myoclonic encephalopathy [RCV002889522] Chr10:63189225 [GRCh38]
Chr10:64948985 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1865C>G (p.Thr622Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003036833] Chr10:63214302 [GRCh38]
Chr10:64974062 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6569A>G (p.Gln2190Arg) single nucleotide variant not specified [RCV004076362] Chr10:63189169 [GRCh38]
Chr10:64948929 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1088A>C (p.Asn363Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003081677] Chr10:63215079 [GRCh38]
Chr10:64974839 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1700G>C (p.Ser567Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003002780] Chr10:63214467 [GRCh38]
Chr10:64974227 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.451G>A (p.Asp151Asn) single nucleotide variant Early myoclonic encephalopathy [RCV002696166] Chr10:63219980 [GRCh38]
Chr10:64979740 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7534-12del deletion Early myoclonic encephalopathy [RCV002866853] Chr10:63168146 [GRCh38]
Chr10:64927906 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3990T>A (p.Ser1330Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002914194] Chr10:63207679 [GRCh38]
Chr10:64967439 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1020T>C (p.Asn340=) single nucleotide variant Early myoclonic encephalopathy [RCV003081468]|JMJD1C-related disorder [RCV003963597] Chr10:63215147 [GRCh38]
Chr10:64974907 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5697C>G (p.His1899Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002706007] Chr10:63194323 [GRCh38]
Chr10:64954083 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2767A>C (p.Ile923Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002923763] Chr10:63209163 [GRCh38]
Chr10:64968923 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1814C>T (p.Ala605Val) single nucleotide variant Early myoclonic encephalopathy [RCV002949484] Chr10:63214353 [GRCh38]
Chr10:64974113 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6570+20A>G single nucleotide variant Early myoclonic encephalopathy [RCV002637979] Chr10:63189148 [GRCh38]
Chr10:64948908 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.187G>T (p.Asp63Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003018082] Chr10:63380464 [GRCh38]
Chr10:65140224 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1417C>T (p.His473Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003018644] Chr10:63214750 [GRCh38]
Chr10:64974510 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5078G>A (p.Gly1693Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003037612] Chr10:63200674 [GRCh38]
Chr10:64960434 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6515A>G (p.Asp2172Gly) single nucleotide variant not specified [RCV004171153] Chr10:63189223 [GRCh38]
Chr10:64948983 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4455C>T (p.His1485=) single nucleotide variant Early myoclonic encephalopathy [RCV003054062] Chr10:63207214 [GRCh38]
Chr10:64966974 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2375A>C (p.His792Pro) single nucleotide variant Early myoclonic encephalopathy [RCV003600445]|not specified [RCV004105843] Chr10:63213792 [GRCh38]
Chr10:64973552 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5645-9A>G single nucleotide variant Early myoclonic encephalopathy [RCV002926606] Chr10:63194384 [GRCh38]
Chr10:64954144 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7401+3A>G single nucleotide variant Early myoclonic encephalopathy [RCV002866472] Chr10:63176294 [GRCh38]
Chr10:64936054 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2539C>G (p.Gln847Glu) single nucleotide variant Early myoclonic encephalopathy [RCV002659490]|not specified [RCV004066860] Chr10:63213628 [GRCh38]
Chr10:64973388 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3306C>T (p.Val1102=) single nucleotide variant Early myoclonic encephalopathy [RCV002659139] Chr10:63208363 [GRCh38]
Chr10:64968123 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7402-14dup duplication Early myoclonic encephalopathy [RCV002756935] Chr10:63168579..63168580 [GRCh38]
Chr10:64928339..64928340 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.169-11T>G single nucleotide variant Early myoclonic encephalopathy [RCV003018598] Chr10:63380493 [GRCh38]
Chr10:65140253 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3886G>A (p.Gly1296Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003018298] Chr10:63207783 [GRCh38]
Chr10:64967543 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4869A>G (p.Glu1623=) single nucleotide variant Early myoclonic encephalopathy [RCV003038530] Chr10:63206800 [GRCh38]
Chr10:64966560 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1354G>A (p.Val452Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002952515] Chr10:63214813 [GRCh38]
Chr10:64974573 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4633A>G (p.Asn1545Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003020848] Chr10:63207036 [GRCh38]
Chr10:64966796 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1703A>C (p.Asp568Ala) single nucleotide variant Early myoclonic encephalopathy [RCV002927024] Chr10:63214464 [GRCh38]
Chr10:64974224 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6514G>A (p.Asp2172Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003053852] Chr10:63189224 [GRCh38]
Chr10:64948984 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2075G>A (p.Arg692Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002690851] Chr10:63214092 [GRCh38]
Chr10:64973852 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1556A>C (p.Glu519Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003053130] Chr10:63214611 [GRCh38]
Chr10:64974371 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5074+13C>T single nucleotide variant Early myoclonic encephalopathy [RCV002843994] Chr10:63206582 [GRCh38]
Chr10:64966342 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1636C>T (p.His546Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV002909561] Chr10:63214531 [GRCh38]
Chr10:64974291 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2734A>C (p.Thr912Pro) single nucleotide variant not specified [RCV004135904] Chr10:63209196 [GRCh38]
Chr10:64968956 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2341C>T (p.Pro781Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002913678]|not provided [RCV004697241] Chr10:63213826 [GRCh38]
Chr10:64973586 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.168+20C>G single nucleotide variant Early myoclonic encephalopathy [RCV002690693] Chr10:63465475 [GRCh38]
Chr10:65225235 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4217C>T (p.Thr1406Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002756922] Chr10:63207452 [GRCh38]
Chr10:64967212 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6077-15A>G single nucleotide variant Early myoclonic encephalopathy [RCV003077349] Chr10:63191123 [GRCh38]
Chr10:64950883 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.25C>T (p.Leu9=) single nucleotide variant Early myoclonic encephalopathy [RCV002735843] Chr10:63465638 [GRCh38]
Chr10:65225398 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2275A>G (p.Thr759Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003061385]|not specified [RCV004071700] Chr10:63213892 [GRCh38]
Chr10:64973652 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3214C>A (p.Arg1072Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002761280] Chr10:63208455 [GRCh38]
Chr10:64968215 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.612G>A (p.Gln204=) single nucleotide variant Early myoclonic encephalopathy [RCV002570068] Chr10:63217273 [GRCh38]
Chr10:64977033 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4008G>A (p.Gly1336=) single nucleotide variant Early myoclonic encephalopathy [RCV003038056] Chr10:63207661 [GRCh38]
Chr10:64967421 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.334-19A>T single nucleotide variant Early myoclonic encephalopathy [RCV002975876] Chr10:63264783 [GRCh38]
Chr10:65024543 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6844T>G (p.Leu2282Val) single nucleotide variant Early myoclonic encephalopathy [RCV003025047] Chr10:63184725 [GRCh38]
Chr10:64944485 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2695-19dup duplication Early myoclonic encephalopathy [RCV003008219] Chr10:63209253..63209254 [GRCh38]
Chr10:64969013..64969014 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.6488G>A (p.Cys2163Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV002625843] Chr10:63189250 [GRCh38]
Chr10:64949010 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3104T>G (p.Phe1035Cys) single nucleotide variant Early myoclonic encephalopathy [RCV002918495]|not specified [RCV004632094] Chr10:63208565 [GRCh38]
Chr10:64968325 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7273C>T (p.Arg2425Cys) single nucleotide variant not specified [RCV004105894] Chr10:63176425 [GRCh38]
Chr10:64936185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1546A>G (p.Thr516Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003043470] Chr10:63214621 [GRCh38]
Chr10:64974381 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5319C>T (p.Phe1773=) single nucleotide variant Early myoclonic encephalopathy [RCV002740728] Chr10:63198685 [GRCh38]
Chr10:64958445 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4342T>G (p.Cys1448Gly) single nucleotide variant Early myoclonic encephalopathy [RCV002914910] Chr10:63207327 [GRCh38]
Chr10:64967087 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.827A>G (p.His276Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002891057] Chr10:63215451 [GRCh38]
Chr10:64975211 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4657G>A (p.Ala1553Thr) single nucleotide variant not specified [RCV004160150] Chr10:63207012 [GRCh38]
Chr10:64966772 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.163C>A (p.Leu55Met) single nucleotide variant Early myoclonic encephalopathy [RCV002957444]|JMJD1C-related disorder [RCV004725423] Chr10:63465500 [GRCh38]
Chr10:65225260 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4188G>A (p.Thr1396=) single nucleotide variant Early myoclonic encephalopathy [RCV002624831] Chr10:63207481 [GRCh38]
Chr10:64967241 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.438_439delinsTT (p.Gln146_Pro147delinsHisSer) indel Early myoclonic encephalopathy [RCV002642694] Chr10:63264659..63264660 [GRCh38]
Chr10:65024419..65024420 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3679C>T (p.Leu1227Phe) single nucleotide variant Early myoclonic encephalopathy [RCV003024239] Chr10:63207990 [GRCh38]
Chr10:64967750 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7534-16T>C single nucleotide variant Early myoclonic encephalopathy [RCV003059602] Chr10:63168150 [GRCh38]
Chr10:64927910 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6400G>C (p.Glu2134Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002574444] Chr10:63189338 [GRCh38]
Chr10:64949098 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2690G>A (p.Arg897Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002958192] Chr10:63213477 [GRCh38]
Chr10:64973237 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6959A>G (p.Tyr2320Cys) single nucleotide variant Early myoclonic encephalopathy [RCV002828244] Chr10:63184610 [GRCh38]
Chr10:64944370 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3702G>A (p.Pro1234=) single nucleotide variant Early myoclonic encephalopathy [RCV002623850] Chr10:63207967 [GRCh38]
Chr10:64967727 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7138T>C (p.Leu2380=) single nucleotide variant Early myoclonic encephalopathy [RCV002929011] Chr10:63177803 [GRCh38]
Chr10:64937563 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4577C>A (p.Thr1526Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002932305] Chr10:63207092 [GRCh38]
Chr10:64966852 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5939C>G (p.Pro1980Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002932079] Chr10:63193075 [GRCh38]
Chr10:64952835 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1711A>G (p.Lys571Glu) single nucleotide variant not specified [RCV004162904] Chr10:63214456 [GRCh38]
Chr10:64974216 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2972A>C (p.His991Pro) single nucleotide variant Early myoclonic encephalopathy [RCV003023040] Chr10:63208697 [GRCh38]
Chr10:64968457 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7534G>A (p.Val2512Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002625160] Chr10:63168134 [GRCh38]
Chr10:64927894 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4350C>T (p.Val1450=) single nucleotide variant Early myoclonic encephalopathy [RCV003082253] Chr10:63207319 [GRCh38]
Chr10:64967079 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7224+6A>C single nucleotide variant Early myoclonic encephalopathy [RCV002918522] Chr10:63177711 [GRCh38]
Chr10:64937471 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2150C>T (p.Pro717Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003058700] Chr10:63214017 [GRCh38]
Chr10:64973777 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1360A>G (p.Thr454Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003084780] Chr10:63214807 [GRCh38]
Chr10:64974567 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.523G>A (p.Glu175Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003057847] Chr10:63219908 [GRCh38]
Chr10:64979668 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5492-12dup duplication Early myoclonic encephalopathy [RCV003084979] Chr10:63197574..63197575 [GRCh38]
Chr10:64957334..64957335 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.3836A>G (p.Asn1279Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003081831] Chr10:63207833 [GRCh38]
Chr10:64967593 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4873G>A (p.Gly1625Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003007568] Chr10:63206796 [GRCh38]
Chr10:64966556 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2868-9T>C single nucleotide variant Early myoclonic encephalopathy [RCV003030921] Chr10:63208810 [GRCh38]
Chr10:64968570 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5491+14A>G single nucleotide variant Early myoclonic encephalopathy [RCV002942022] Chr10:63198499 [GRCh38]
Chr10:64958259 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.1994G>C (p.Ser665Thr) single nucleotide variant Early myoclonic encephalopathy [RCV002676119] Chr10:63214173 [GRCh38]
Chr10:64973933 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3262T>A (p.Leu1088Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003090547] Chr10:63208407 [GRCh38]
Chr10:64968167 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7534-14A>G single nucleotide variant Early myoclonic encephalopathy [RCV002601378] Chr10:63168148 [GRCh38]
Chr10:64927908 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5295C>T (p.Asn1765=) single nucleotide variant Early myoclonic encephalopathy [RCV002651503] Chr10:63198709 [GRCh38]
Chr10:64958469 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.783A>G (p.Arg261=) single nucleotide variant Early myoclonic encephalopathy [RCV002877474] Chr10:63215592 [GRCh38]
Chr10:64975352 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.806A>G (p.Asn269Ser) single nucleotide variant not specified [RCV004160434] Chr10:63215569 [GRCh38]
Chr10:64975329 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1930G>A (p.Val644Ile) single nucleotide variant Early myoclonic encephalopathy [RCV002770439] Chr10:63214237 [GRCh38]
Chr10:64973997 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.80G>T (p.Arg27Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002717393] Chr10:63465583 [GRCh38]
Chr10:65225343 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2316T>C (p.Thr772=) single nucleotide variant Early myoclonic encephalopathy [RCV002806572] Chr10:63213851 [GRCh38]
Chr10:64973611 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6297C>T (p.Ser2099=) single nucleotide variant Early myoclonic encephalopathy [RCV002715681] Chr10:63189441 [GRCh38]
Chr10:64949201 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6740-7C>T single nucleotide variant Early myoclonic encephalopathy [RCV003028653] Chr10:63185660 [GRCh38]
Chr10:64945420 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1494G>T (p.Lys498Asn) single nucleotide variant not specified [RCV004168903] Chr10:63214673 [GRCh38]
Chr10:64974433 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6121G>C (p.Glu2041Gln) single nucleotide variant not specified [RCV004086570] Chr10:63191064 [GRCh38]
Chr10:64950824 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.190C>T (p.Leu64Phe) single nucleotide variant Early myoclonic encephalopathy [RCV002650088] Chr10:63380461 [GRCh38]
Chr10:65140221 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4312G>T (p.Val1438Phe) single nucleotide variant not specified [RCV004115111] Chr10:63207357 [GRCh38]
Chr10:64967117 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3387A>G (p.Ala1129=) single nucleotide variant Early myoclonic encephalopathy [RCV002578690] Chr10:63208282 [GRCh38]
Chr10:64968042 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.678+14C>T single nucleotide variant Early myoclonic encephalopathy [RCV002647437] Chr10:63217193 [GRCh38]
Chr10:64976953 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1508C>G (p.Pro503Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002672229] Chr10:63214659 [GRCh38]
Chr10:64974419 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3929C>T (p.Ser1310Phe) single nucleotide variant Early myoclonic encephalopathy [RCV003089247] Chr10:63207740 [GRCh38]
Chr10:64967500 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7191A>G (p.Lys2397=) single nucleotide variant Early myoclonic encephalopathy [RCV002650222] Chr10:63177750 [GRCh38]
Chr10:64937510 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.74C>T (p.Ser25Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002628104]|not specified [RCV004927893] Chr10:63465589 [GRCh38]
Chr10:65225349 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.168+18C>T single nucleotide variant Early myoclonic encephalopathy [RCV003060998] Chr10:63465477 [GRCh38]
Chr10:65225237 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.822+19A>G single nucleotide variant Early myoclonic encephalopathy [RCV002647328] Chr10:63215534 [GRCh38]
Chr10:64975294 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6570+10_6570+11del deletion Early myoclonic encephalopathy [RCV002630093] Chr10:63189157..63189158 [GRCh38]
Chr10:64948917..64948918 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4123G>A (p.Val1375Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003030541] Chr10:63207546 [GRCh38]
Chr10:64967306 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6831-17A>G single nucleotide variant Early myoclonic encephalopathy [RCV002628149] Chr10:63184755 [GRCh38]
Chr10:64944515 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2324C>T (p.Pro775Leu) single nucleotide variant not specified [RCV004166319] Chr10:63213843 [GRCh38]
Chr10:64973603 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2744A>T (p.Asp915Val) single nucleotide variant Early myoclonic encephalopathy [RCV002648125]|not specified [RCV004072122] Chr10:63209186 [GRCh38]
Chr10:64968946 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4836_4841del (p.Lys1612_Val1613del) deletion Early myoclonic encephalopathy [RCV003062892] Chr10:63206828..63206833 [GRCh38]
Chr10:64966588..64966593 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3707_3708delinsATTTACCA (p.Met1236delinsAsnLeuPro) indel Early myoclonic encephalopathy [RCV002578124] Chr10:63207961..63207962 [GRCh38]
Chr10:64967721..64967722 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4715G>A (p.Gly1572Glu) single nucleotide variant Early myoclonic encephalopathy [RCV002577568] Chr10:63206954 [GRCh38]
Chr10:64966714 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1983T>C (p.Thr661=) single nucleotide variant Early myoclonic encephalopathy [RCV003047943] Chr10:63214184 [GRCh38]
Chr10:64973944 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5630G>A (p.Arg1877Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002792026] Chr10:63197425 [GRCh38]
Chr10:64957185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6769G>A (p.Val2257Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003030232] Chr10:63185624 [GRCh38]
Chr10:64945384 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1855C>T (p.Pro619Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003052069] Chr10:63214312 [GRCh38]
Chr10:64974072 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3967T>C (p.Leu1323=) single nucleotide variant Early myoclonic encephalopathy [RCV003050284] Chr10:63207702 [GRCh38]
Chr10:64967462 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3681T>G (p.Leu1227=) single nucleotide variant Early myoclonic encephalopathy [RCV002658392] Chr10:63207988 [GRCh38]
Chr10:64967748 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.812A>G (p.Asn271Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002606436]|not specified [RCV004069084] Chr10:63215563 [GRCh38]
Chr10:64975323 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1150T>A (p.Ser384Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003066769] Chr10:63215017 [GRCh38]
Chr10:64974777 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.946G>T (p.Gly316Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003051926] Chr10:63215332 [GRCh38]
Chr10:64975092 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6307C>T (p.Arg2103Trp) single nucleotide variant Early myoclonic encephalopathy [RCV002604011] Chr10:63189431 [GRCh38]
Chr10:64949191 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5995A>C (p.Lys1999Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002604982] Chr10:63193019 [GRCh38]
Chr10:64952779 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.27G>A (p.Leu9=) single nucleotide variant Early myoclonic encephalopathy [RCV002944099] Chr10:63465636 [GRCh38]
Chr10:65225396 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6902C>G (p.Ser2301Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003071370] Chr10:63184667 [GRCh38]
Chr10:64944427 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5246C>A (p.Pro1749Gln) single nucleotide variant Early myoclonic encephalopathy [RCV002588659] Chr10:63200506 [GRCh38]
Chr10:64960266 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1258G>A (p.Glu420Lys) single nucleotide variant Early myoclonic encephalopathy [RCV002588948] Chr10:63214909 [GRCh38]
Chr10:64974669 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3606A>G (p.Ala1202=) single nucleotide variant Early myoclonic encephalopathy [RCV002604409] Chr10:63208063 [GRCh38]
Chr10:64967823 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3475T>G (p.Leu1159Val) single nucleotide variant Early myoclonic encephalopathy [RCV003051197]|not specified [RCV004070286] Chr10:63208194 [GRCh38]
Chr10:64967954 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.71G>A (p.Arg24His) single nucleotide variant Early myoclonic encephalopathy [RCV003066645] Chr10:63465592 [GRCh38]
Chr10:65225352 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1039C>G (p.His347Asp) single nucleotide variant Early myoclonic encephalopathy [RCV002587148] Chr10:63215128 [GRCh38]
Chr10:64974888 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.117G>C (p.Ala39=) single nucleotide variant Early myoclonic encephalopathy [RCV003092845] Chr10:63465546 [GRCh38]
Chr10:65225306 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2550T>G (p.Pro850=) single nucleotide variant Early myoclonic encephalopathy [RCV002653863] Chr10:63213617 [GRCh38]
Chr10:64973377 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2814T>G (p.Ile938Met) single nucleotide variant Early myoclonic encephalopathy [RCV002585464]|not specified [RCV004068817] Chr10:63209116 [GRCh38]
Chr10:64968876 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.151C>T (p.Arg51Cys) single nucleotide variant Early myoclonic encephalopathy [RCV002676768] Chr10:63465512 [GRCh38]
Chr10:65225272 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2721G>C (p.Gln907His) single nucleotide variant Early myoclonic encephalopathy [RCV003072330] Chr10:63209209 [GRCh38]
Chr10:64968969 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2867+19A>C single nucleotide variant Early myoclonic encephalopathy [RCV002722063] Chr10:63209044 [GRCh38]
Chr10:64968804 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3641A>G (p.His1214Arg) single nucleotide variant Early myoclonic encephalopathy [RCV002585603] Chr10:63208028 [GRCh38]
Chr10:64967788 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7224+14T>C single nucleotide variant Early myoclonic encephalopathy [RCV003071256] Chr10:63177703 [GRCh38]
Chr10:64937463 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4549C>T (p.Pro1517Ser) single nucleotide variant Early myoclonic encephalopathy [RCV002609141] Chr10:63207120 [GRCh38]
Chr10:64966880 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2480C>T (p.Ala827Val) single nucleotide variant not specified [RCV004103481] Chr10:63213687 [GRCh38]
Chr10:64973447 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3487A>C (p.Ile1163Leu) single nucleotide variant Early myoclonic encephalopathy [RCV002607744]|not provided [RCV004695316] Chr10:63208182 [GRCh38]
Chr10:64967942 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2327C>G (p.Thr776Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003050182]|not specified [RCV004070094] Chr10:63213840 [GRCh38]
Chr10:64973600 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7084+12A>G single nucleotide variant Early myoclonic encephalopathy [RCV002587754] Chr10:63183435 [GRCh38]
Chr10:64943195 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4252T>G (p.Ser1418Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003092187] Chr10:63207417 [GRCh38]
Chr10:64967177 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3139G>A (p.Glu1047Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003032162] Chr10:63208530 [GRCh38]
Chr10:64968290 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4832A>G (p.Asp1611Gly) single nucleotide variant Early myoclonic encephalopathy [RCV005101197]|not specified [RCV004253900] Chr10:63206837 [GRCh38]
Chr10:64966597 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4604A>G (p.Asn1535Ser) single nucleotide variant not specified [RCV004265559] Chr10:63207065 [GRCh38]
Chr10:64966825 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5878C>G (p.Leu1960Val) single nucleotide variant not specified [RCV004266936] Chr10:63193136 [GRCh38]
Chr10:64952896 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.615G>T (p.Trp205Cys) single nucleotide variant Early myoclonic encephalopathy [RCV005101345]|not specified [RCV004287137] Chr10:63217270 [GRCh38]
Chr10:64977030 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5854G>A (p.Val1952Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003497981]|not specified [RCV004282628] Chr10:63193353 [GRCh38]
Chr10:64953113 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6409G>A (p.Glu2137Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003600451]|not specified [RCV004277561] Chr10:63189329 [GRCh38]
Chr10:64949089 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_032776.3(JMJD1C):c.4427C>T (p.Thr1476Ile) single nucleotide variant not specified [RCV004319487] Chr10:63207242 [GRCh38]
Chr10:64967002 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_032776.3(JMJD1C):c.2479G>A (p.Ala827Thr) single nucleotide variant Early myoclonic encephalopathy [RCV005104131]|not specified [RCV004350739] Chr10:63213688 [GRCh38]
Chr10:64973448 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1911A>C (p.Lys637Asn) single nucleotide variant not specified [RCV004353061] Chr10:63214256 [GRCh38]
Chr10:64974016 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5108G>A (p.Arg1703His) single nucleotide variant JMJD1C-related disorder [RCV003418971]|not provided [RCV003491383] Chr10:63200644 [GRCh38]
Chr10:64960404 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6745C>T (p.Gln2249Ter) single nucleotide variant not provided [RCV003456619] Chr10:63185648 [GRCh38]
Chr10:64945408 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2746G>A (p.Gly916Ser) single nucleotide variant not specified [RCV004356270] Chr10:63209184 [GRCh38]
Chr10:64968944 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4792G>A (p.Val1598Ile) single nucleotide variant not specified [RCV004362182] Chr10:63206877 [GRCh38]
Chr10:64966637 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1790T>A (p.Val597Asp) single nucleotide variant not specified [RCV004365061] Chr10:63214377 [GRCh38]
Chr10:64974137 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2195T>A (p.Phe732Tyr) single nucleotide variant not specified [RCV004354602] Chr10:63213972 [GRCh38]
Chr10:64973732 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2575C>G (p.Leu859Val) single nucleotide variant not specified [RCV004354603] Chr10:63213592 [GRCh38]
Chr10:64973352 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7085-9T>G single nucleotide variant Early myoclonic encephalopathy [RCV003873233] Chr10:63177865 [GRCh38]
Chr10:64937625 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6286G>A (p.Ala2096Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003875371]|not specified [RCV004369574] Chr10:63190899 [GRCh38]
Chr10:64950659 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_032776.3(JMJD1C):c.3035G>A (p.Gly1012Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003872733] Chr10:63208634 [GRCh38]
Chr10:64968394 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1843A>G (p.Lys615Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003872744] Chr10:63214324 [GRCh38]
Chr10:64974084 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5900C>A (p.Ser1967Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003872490] Chr10:63193114 [GRCh38]
Chr10:64952874 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
GRCh37/hg19 10q21.3(chr10:65006549-65193646)x1 copy number loss not provided [RCV003483096] Chr10:65006549..65193646 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1320T>G (p.Asp440Glu) single nucleotide variant Intellectual disability [RCV004789766] Chr10:63214847 [GRCh38]
Chr10:64974607 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2155C>T (p.Leu719Phe) single nucleotide variant JMJD1C-related disorder [RCV003402460] Chr10:63214012 [GRCh38]
Chr10:64973772 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5210T>C (p.Ile1737Thr) single nucleotide variant JMJD1C-related disorder [RCV003397354]|Neurodevelopmental disorder [RCV004786936] Chr10:63200542 [GRCh38]
Chr10:64960302 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4487G>T (p.Ser1496Ile) single nucleotide variant JMJD1C-related disorder [RCV003399689] Chr10:63207182 [GRCh38]
Chr10:64966942 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1604A>C (p.Gln535Pro) single nucleotide variant JMJD1C-related disorder [RCV003417018] Chr10:63214563 [GRCh38]
Chr10:64974323 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6628T>C (p.Ser2210Pro) single nucleotide variant not provided [RCV003417421] Chr10:63186326 [GRCh38]
Chr10:64946086 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6372T>G (p.Ser2124Arg) single nucleotide variant not provided [RCV003417422] Chr10:63189366 [GRCh38]
Chr10:64949126 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6068A>T (p.Glu2023Val) single nucleotide variant not provided [RCV003417423] Chr10:63192946 [GRCh38]
Chr10:64952706 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4847G>A (p.Arg1616Lys) single nucleotide variant not provided [RCV003417424] Chr10:63206822 [GRCh38]
Chr10:64966582 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2475C>T (p.His825=) single nucleotide variant not provided [RCV003417425] Chr10:63213692 [GRCh38]
Chr10:64973452 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.105A>C (p.Arg35=) single nucleotide variant not provided [RCV003417426] Chr10:63465558 [GRCh38]
Chr10:65225318 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4310G>A (p.Ser1437Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003602320] Chr10:63207359 [GRCh38]
Chr10:64967119 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4119G>A (p.Gln1373=) single nucleotide variant Early myoclonic encephalopathy [RCV003601324] Chr10:63207550 [GRCh38]
Chr10:64967310 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1917C>A (p.Ser639Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003602338] Chr10:63214250 [GRCh38]
Chr10:64974010 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5040AAG[1] (p.Arg1681del) microsatellite Early myoclonic encephalopathy [RCV003600238] Chr10:63206624..63206626 [GRCh38]
Chr10:64966384..64966386 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5283A>G (p.Ser1761=) single nucleotide variant Early myoclonic encephalopathy [RCV003601441] Chr10:63198721 [GRCh38]
Chr10:64958481 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1360A>T (p.Thr454Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003602395] Chr10:63214807 [GRCh38]
Chr10:64974567 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4317T>G (p.Ser1439Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003600330]|not specified [RCV004634331] Chr10:63207352 [GRCh38]
Chr10:64967112 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.48T>C (p.Cys16=) single nucleotide variant Early myoclonic encephalopathy [RCV003601688] Chr10:63465615 [GRCh38]
Chr10:65225375 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.870C>A (p.Asn290Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003600063] Chr10:63215408 [GRCh38]
Chr10:64975168 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7227T>C (p.Ile2409=) single nucleotide variant Early myoclonic encephalopathy [RCV003601523] Chr10:63176471 [GRCh38]
Chr10:64936231 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5956G>A (p.Gly1986Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003600199] Chr10:63193058 [GRCh38]
Chr10:64952818 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6740-3T>C single nucleotide variant Early myoclonic encephalopathy [RCV003601561] Chr10:63185656 [GRCh38]
Chr10:64945416 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3419_3424del (p.Ile1140_Ser1142delinsThr) deletion Early myoclonic encephalopathy [RCV003600614] Chr10:63208245..63208250 [GRCh38]
Chr10:64968005..64968010 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4226C>G (p.Ser1409Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003600784] Chr10:63207443 [GRCh38]
Chr10:64967203 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2517C>A (p.His839Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003600813] Chr10:63213650 [GRCh38]
Chr10:64973410 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4399G>A (p.Val1467Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003601902] Chr10:63207270 [GRCh38]
Chr10:64967030 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2071A>G (p.Thr691Ala) single nucleotide variant not provided [RCV003487942] Chr10:63214096 [GRCh38]
Chr10:64973856 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7583_7585del (p.Lys2528del) deletion Early myoclonic encephalopathy [RCV003600918] Chr10:63168083..63168085 [GRCh38]
Chr10:64927843..64927845 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5311G>A (p.Asp1771Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003602306] Chr10:63198693 [GRCh38]
Chr10:64958453 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.249G>A (p.Val83=) single nucleotide variant Early myoclonic encephalopathy [RCV003600886] Chr10:63380402 [GRCh38]
Chr10:65140162 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4323A>G (p.Pro1441=) single nucleotide variant Early myoclonic encephalopathy [RCV003600083] Chr10:63207346 [GRCh38]
Chr10:64967106 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3757C>T (p.Leu1253=) single nucleotide variant Early myoclonic encephalopathy [RCV003600126] Chr10:63207912 [GRCh38]
Chr10:64967672 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3718G>A (p.Ala1240Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003600840] Chr10:63207951 [GRCh38]
Chr10:64967711 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2897C>G (p.Pro966Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003601364] Chr10:63208772 [GRCh38]
Chr10:64968532 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2097A>G (p.Thr699=) single nucleotide variant Early myoclonic encephalopathy [RCV003602058] Chr10:63214070 [GRCh38]
Chr10:64973830 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2649G>T (p.Trp883Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003601633] Chr10:63213518 [GRCh38]
Chr10:64973278 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2359C>T (p.His787Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003600147] Chr10:63213808 [GRCh38]
Chr10:64973568 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5148A>G (p.Leu1716=) single nucleotide variant Early myoclonic encephalopathy [RCV003600195] Chr10:63200604 [GRCh38]
Chr10:64960364 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.224A>G (p.Tyr75Cys) single nucleotide variant Early myoclonic encephalopathy [RCV003601669] Chr10:63380427 [GRCh38]
Chr10:65140187 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1591C>T (p.Leu531Phe) single nucleotide variant Early myoclonic encephalopathy [RCV003600242] Chr10:63214576 [GRCh38]
Chr10:64974336 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.369T>A (p.Ser123Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003600253] Chr10:63264729 [GRCh38]
Chr10:65024489 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2065A>G (p.Ile689Val) single nucleotide variant Early myoclonic encephalopathy [RCV003600885] Chr10:63214102 [GRCh38]
Chr10:64973862 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2455C>A (p.His819Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003600982] Chr10:63213712 [GRCh38]
Chr10:64973472 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.916C>G (p.Gln306Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003600983] Chr10:63215362 [GRCh38]
Chr10:64975122 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3199G>T (p.Asp1067Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003600999] Chr10:63208470 [GRCh38]
Chr10:64968230 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4831G>A (p.Asp1611Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003601602] Chr10:63206838 [GRCh38]
Chr10:64966598 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3155T>C (p.Val1052Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003600510] Chr10:63208514 [GRCh38]
Chr10:64968274 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5655A>G (p.Leu1885=) single nucleotide variant Early myoclonic encephalopathy [RCV003826804] Chr10:63194365 [GRCh38]
Chr10:64954125 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.75G>A (p.Ser25=) single nucleotide variant Early myoclonic encephalopathy [RCV003601040] Chr10:63465588 [GRCh38]
Chr10:65225348 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1041C>A (p.His347Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003601042] Chr10:63215126 [GRCh38]
Chr10:64974886 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6664C>G (p.Leu2222Val) single nucleotide variant Early myoclonic encephalopathy [RCV003599938] Chr10:63186290 [GRCh38]
Chr10:64946050 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5074+14T>C single nucleotide variant Early myoclonic encephalopathy [RCV003879651] Chr10:63206581 [GRCh38]
Chr10:64966341 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.853C>A (p.Pro285Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003600745] Chr10:63215425 [GRCh38]
Chr10:64975185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5454A>G (p.Thr1818=) single nucleotide variant Early myoclonic encephalopathy [RCV003600759] Chr10:63198550 [GRCh38]
Chr10:64958310 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6539A>G (p.Lys2180Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003601165] Chr10:63189199 [GRCh38]
Chr10:64948959 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1986T>C (p.Tyr662=) single nucleotide variant Early myoclonic encephalopathy [RCV003601191] Chr10:63214181 [GRCh38]
Chr10:64973941 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7085-16T>C single nucleotide variant Early myoclonic encephalopathy [RCV003601289] Chr10:63177872 [GRCh38]
Chr10:64937632 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.10G>A (p.Glu4Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003601937] Chr10:63465653 [GRCh38]
Chr10:65225413 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2619C>T (p.Tyr873=) single nucleotide variant Early myoclonic encephalopathy [RCV003600722] Chr10:63213548 [GRCh38]
Chr10:64973308 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.758G>A (p.Gly253Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003602052] Chr10:63215617 [GRCh38]
Chr10:64975377 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6650A>G (p.Asp2217Gly) single nucleotide variant Early myoclonic encephalopathy [RCV003602352] Chr10:63186304 [GRCh38]
Chr10:64946064 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1226T>C (p.Ile409Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003600246] Chr10:63214941 [GRCh38]
Chr10:64974701 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4959G>A (p.Lys1653=) single nucleotide variant Early myoclonic encephalopathy [RCV003601260] Chr10:63206710 [GRCh38]
Chr10:64966470 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4535T>C (p.Leu1512Pro) single nucleotide variant Early myoclonic encephalopathy [RCV003601269] Chr10:63207134 [GRCh38]
Chr10:64966894 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2701C>T (p.Pro901Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003600269] Chr10:63209229 [GRCh38]
Chr10:64968989 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.333+14C>G single nucleotide variant Early myoclonic encephalopathy [RCV003600271] Chr10:63380304 [GRCh38]
Chr10:65140064 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.678+16A>G single nucleotide variant Early myoclonic encephalopathy [RCV003600302] Chr10:63217191 [GRCh38]
Chr10:64976951 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4462G>A (p.Ala1488Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003602113] Chr10:63207207 [GRCh38]
Chr10:64966967 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.678+16A>C single nucleotide variant Early myoclonic encephalopathy [RCV003600343] Chr10:63217191 [GRCh38]
Chr10:64976951 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2644A>G (p.Lys882Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003600871] Chr10:63213523 [GRCh38]
Chr10:64973283 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2115T>G (p.Ile705Met) single nucleotide variant Early myoclonic encephalopathy [RCV003601747] Chr10:63214052 [GRCh38]
Chr10:64973812 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6087A>C (p.Glu2029Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003599906] Chr10:63191098 [GRCh38]
Chr10:64950858 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4837G>C (p.Val1613Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003600472] Chr10:63206832 [GRCh38]
Chr10:64966592 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3244C>G (p.His1082Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003602439] Chr10:63208425 [GRCh38]
Chr10:64968185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1858C>G (p.Pro620Ala) single nucleotide variant Early myoclonic encephalopathy [RCV003600358] Chr10:63214309 [GRCh38]
Chr10:64974069 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6848A>G (p.Lys2283Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003600997] Chr10:63184721 [GRCh38]
Chr10:64944481 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1854A>C (p.Pro618=) single nucleotide variant Early myoclonic encephalopathy [RCV003601323] Chr10:63214313 [GRCh38]
Chr10:64974073 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6830+5G>C single nucleotide variant Early myoclonic encephalopathy [RCV003602449] Chr10:63185558 [GRCh38]
Chr10:64945318 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.169-18G>A single nucleotide variant Early myoclonic encephalopathy [RCV003600352] Chr10:63380500 [GRCh38]
Chr10:65140260 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3956C>T (p.Pro1319Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003600588] Chr10:63207713 [GRCh38]
Chr10:64967473 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.732_733insCTA (p.Asp244_Asp245insLeu) insertion Early myoclonic encephalopathy [RCV003602242] Chr10:63215642..63215643 [GRCh38]
Chr10:64975402..64975403 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3202A>G (p.Met1068Val) single nucleotide variant Early myoclonic encephalopathy [RCV003602534]|not specified [RCV004634322] Chr10:63208467 [GRCh38]
Chr10:64968227 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2151T>A (p.Pro717=) single nucleotide variant Early myoclonic encephalopathy [RCV003600073] Chr10:63214016 [GRCh38]
Chr10:64973776 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3471A>G (p.Glu1157=) single nucleotide variant Early myoclonic encephalopathy [RCV003600638] Chr10:63208198 [GRCh38]
Chr10:64967958 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1975A>G (p.Lys659Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003601963]|not specified [RCV004374336] Chr10:63214192 [GRCh38]
Chr10:64973952 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.757G>A (p.Gly253Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003602269] Chr10:63215618 [GRCh38]
Chr10:64975378 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5607A>G (p.Leu1869=) single nucleotide variant Early myoclonic encephalopathy [RCV003601152] Chr10:63197448 [GRCh38]
Chr10:64957208 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2363A>G (p.His788Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003601970] Chr10:63213804 [GRCh38]
Chr10:64973564 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4974A>G (p.Gln1658=) single nucleotide variant Early myoclonic encephalopathy [RCV003600688] Chr10:63206695 [GRCh38]
Chr10:64966455 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6292-5A>G single nucleotide variant Early myoclonic encephalopathy [RCV003600705] Chr10:63189451 [GRCh38]
Chr10:64949211 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4809A>G (p.Ile1603Met) single nucleotide variant Early myoclonic encephalopathy [RCV003601175] Chr10:63206860 [GRCh38]
Chr10:64966620 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.60C>T (p.Gly20=) single nucleotide variant Early myoclonic encephalopathy [RCV003601178] Chr10:63465603 [GRCh38]
Chr10:65225363 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3374C>T (p.Ala1125Val) single nucleotide variant Early myoclonic encephalopathy [RCV003601999] Chr10:63208295 [GRCh38]
Chr10:64968055 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1061A>T (p.Lys354Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003602001] Chr10:63215106 [GRCh38]
Chr10:64974866 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3157G>A (p.Ala1053Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003602313] Chr10:63208512 [GRCh38]
Chr10:64968272 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3927A>G (p.Pro1309=) single nucleotide variant Early myoclonic encephalopathy [RCV003600189] Chr10:63207742 [GRCh38]
Chr10:64967502 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.678+13A>C single nucleotide variant Early myoclonic encephalopathy [RCV003601220] Chr10:63217194 [GRCh38]
Chr10:64976954 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4348G>A (p.Val1450Ile) single nucleotide variant Early myoclonic encephalopathy [RCV003602033] Chr10:63207321 [GRCh38]
Chr10:64967081 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4977G>A (p.Lys1659=) single nucleotide variant Early myoclonic encephalopathy [RCV003499089] Chr10:63206692 [GRCh38]
Chr10:64966452 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4240T>A (p.Ser1414Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003497464] Chr10:63207429 [GRCh38]
Chr10:64967189 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4936C>T (p.Pro1646Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003497465] Chr10:63206733 [GRCh38]
Chr10:64966493 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1454T>C (p.Met485Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003497519] Chr10:63214713 [GRCh38]
Chr10:64974473 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5949G>C (p.Glu1983Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003498309] Chr10:63193065 [GRCh38]
Chr10:64952825 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4655A>C (p.Lys1552Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003499320] Chr10:63207014 [GRCh38]
Chr10:64966774 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5984G>A (p.Gly1995Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003498581] Chr10:63193030 [GRCh38]
Chr10:64952790 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2035C>A (p.His679Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003498984] Chr10:63214132 [GRCh38]
Chr10:64973892 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3989G>A (p.Ser1330Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003499457] Chr10:63207680 [GRCh38]
Chr10:64967440 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2805T>A (p.Pro935=) single nucleotide variant Early myoclonic encephalopathy [RCV003498749] Chr10:63209125 [GRCh38]
Chr10:64968885 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.257A>G (p.His86Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003851113] Chr10:63380394 [GRCh38]
Chr10:65140154 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5674G>A (p.Val1892Met) single nucleotide variant Early myoclonic encephalopathy [RCV003839632] Chr10:63194346 [GRCh38]
Chr10:64954106 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2563A>C (p.Asn855His) single nucleotide variant Early myoclonic encephalopathy [RCV003497633] Chr10:63213604 [GRCh38]
Chr10:64973364 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7534-12C>T single nucleotide variant Early myoclonic encephalopathy [RCV003497678] Chr10:63168146 [GRCh38]
Chr10:64927906 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5734+20G>A single nucleotide variant Early myoclonic encephalopathy [RCV003497701] Chr10:63194266 [GRCh38]
Chr10:64954026 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.682C>T (p.Leu228=) single nucleotide variant Early myoclonic encephalopathy [RCV003497731] Chr10:63215693 [GRCh38]
Chr10:64975453 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3303G>A (p.Val1101=) single nucleotide variant Early myoclonic encephalopathy [RCV003851631] Chr10:63208366 [GRCh38]
Chr10:64968126 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4133G>A (p.Gly1378Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003498360] Chr10:63207536 [GRCh38]
Chr10:64967296 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6292-21_6292-19del deletion Early myoclonic encephalopathy [RCV003498508] Chr10:63189465..63189467 [GRCh38]
Chr10:64949225..64949227 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3544G>A (p.Asp1182Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003856220] Chr10:63208125 [GRCh38]
Chr10:64967885 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6432A>G (p.Ile2144Met) single nucleotide variant Early myoclonic encephalopathy [RCV003499037] Chr10:63189306 [GRCh38]
Chr10:64949066 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6570+17G>A single nucleotide variant Early myoclonic encephalopathy [RCV003499382] Chr10:63189151 [GRCh38]
Chr10:64948911 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5396T>A (p.Ile1799Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003499400] Chr10:63198608 [GRCh38]
Chr10:64958368 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3955C>T (p.Pro1319Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003498589] Chr10:63207714 [GRCh38]
Chr10:64967474 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.554-4del deletion Early myoclonic encephalopathy [RCV003499804] Chr10:63217335 [GRCh38]
Chr10:64977095 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.1686C>T (p.Asp562=) single nucleotide variant Early myoclonic encephalopathy [RCV003499669] Chr10:63214481 [GRCh38]
Chr10:64974241 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1154A>G (p.Asn385Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003499686] Chr10:63215013 [GRCh38]
Chr10:64974773 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4397T>G (p.Val1466Gly) single nucleotide variant Early myoclonic encephalopathy [RCV003499709]|not specified [RCV004927922] Chr10:63207272 [GRCh38]
Chr10:64967032 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1805C>T (p.Pro602Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003499738] Chr10:63214362 [GRCh38]
Chr10:64974122 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4379G>A (p.Ser1460Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003499545] Chr10:63207290 [GRCh38]
Chr10:64967050 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5075-17T>A single nucleotide variant Early myoclonic encephalopathy [RCV003497603] Chr10:63200694 [GRCh38]
Chr10:64960454 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6805G>A (p.Asp2269Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003499676] Chr10:63185588 [GRCh38]
Chr10:64945348 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5691T>C (p.His1897=) single nucleotide variant Early myoclonic encephalopathy [RCV003499746] Chr10:63194329 [GRCh38]
Chr10:64954089 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3513T>C (p.Ile1171=) single nucleotide variant Early myoclonic encephalopathy [RCV003499769] Chr10:63208156 [GRCh38]
Chr10:64967916 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5255G>A (p.Cys1752Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003498308] Chr10:63200497 [GRCh38]
Chr10:64960257 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2276C>G (p.Thr759Ser) single nucleotide variant Early myoclonic encephalopathy [RCV003498789] Chr10:63213891 [GRCh38]
Chr10:64973651 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6571-9A>G single nucleotide variant Early myoclonic encephalopathy [RCV003498911]|JMJD1C-related disorder [RCV003929214] Chr10:63186392 [GRCh38]
Chr10:64946152 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4396GTT[3] (p.Val1467_Gln1468insVal) microsatellite Early myoclonic encephalopathy [RCV003499047] Chr10:63207267..63207268 [GRCh38]
Chr10:64967027..64967028 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1280T>A (p.Leu427Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003499077] Chr10:63214887 [GRCh38]
Chr10:64974647 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2481G>T (p.Ala827=) single nucleotide variant Early myoclonic encephalopathy [RCV003499194] Chr10:63213686 [GRCh38]
Chr10:64973446 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4227C>T (p.Ser1409=) single nucleotide variant Early myoclonic encephalopathy [RCV003499351] Chr10:63207442 [GRCh38]
Chr10:64967202 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4533A>C (p.Thr1511=) single nucleotide variant Early myoclonic encephalopathy [RCV003499484] Chr10:63207136 [GRCh38]
Chr10:64966896 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3660G>C (p.Lys1220Asn) single nucleotide variant Early myoclonic encephalopathy [RCV003498174] Chr10:63208009 [GRCh38]
Chr10:64967769 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3425C>T (p.Ser1142Phe) single nucleotide variant Early myoclonic encephalopathy [RCV003498207] Chr10:63208244 [GRCh38]
Chr10:64968004 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5904G>A (p.Leu1968=) single nucleotide variant Early myoclonic encephalopathy [RCV003498307] Chr10:63193110 [GRCh38]
Chr10:64952870 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3101C>T (p.Pro1034Leu) single nucleotide variant Early myoclonic encephalopathy [RCV003816652] Chr10:63208568 [GRCh38]
Chr10:64968328 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3340G>T (p.Val1114Phe) single nucleotide variant Early myoclonic encephalopathy [RCV003499498] Chr10:63208329 [GRCh38]
Chr10:64968089 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2801G>A (p.Arg934Gln) single nucleotide variant Early myoclonic encephalopathy [RCV003499901] Chr10:63209129 [GRCh38]
Chr10:64968889 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4496C>G (p.Ala1499Gly) single nucleotide variant Early myoclonic encephalopathy [RCV003499964] Chr10:63207173 [GRCh38]
Chr10:64966933 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5277-8T>C single nucleotide variant Early myoclonic encephalopathy [RCV003499940] Chr10:63198735 [GRCh38]
Chr10:64958495 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4422A>C (p.Ser1474=) single nucleotide variant Early myoclonic encephalopathy [RCV003850936] Chr10:63207247 [GRCh38]
Chr10:64967007 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7219C>A (p.Gln2407Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003497702] Chr10:63177722 [GRCh38]
Chr10:64937482 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6812A>G (p.Lys2271Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003498017] Chr10:63185581 [GRCh38]
Chr10:64945341 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5850T>C (p.Asn1950=) single nucleotide variant Early myoclonic encephalopathy [RCV003851541] Chr10:63193357 [GRCh38]
Chr10:64953117 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5008C>A (p.Pro1670Thr) single nucleotide variant Early myoclonic encephalopathy [RCV003834121] Chr10:63206661 [GRCh38]
Chr10:64966421 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2339A>G (p.His780Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003498518] Chr10:63213828 [GRCh38]
Chr10:64973588 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4116T>C (p.Phe1372=) single nucleotide variant Early myoclonic encephalopathy [RCV003498571] Chr10:63207553 [GRCh38]
Chr10:64967313 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2255G>A (p.Gly752Asp) single nucleotide variant Early myoclonic encephalopathy [RCV003498733] Chr10:63213912 [GRCh38]
Chr10:64973672 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.678+17A>T single nucleotide variant Early myoclonic encephalopathy [RCV003499041] Chr10:63217190 [GRCh38]
Chr10:64976950 [GRCh37]
Chr10:10q21.3		 benign
NM_032776.3(JMJD1C):c.162C>G (p.Asp54Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003499199] Chr10:63465501 [GRCh38]
Chr10:65225261 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1010G>C (p.Arg337Pro) single nucleotide variant Early myoclonic encephalopathy [RCV003499596] Chr10:63215268 [GRCh38]
Chr10:64975028 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5224G>A (p.Gly1742Arg) single nucleotide variant Early myoclonic encephalopathy [RCV003499600] Chr10:63200528 [GRCh38]
Chr10:64960288 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6121G>A (p.Glu2041Lys) single nucleotide variant Early myoclonic encephalopathy [RCV003499663]|not specified [RCV005363144] Chr10:63191064 [GRCh38]
Chr10:64950824 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6360A>G (p.Lys2120=) single nucleotide variant Early myoclonic encephalopathy [RCV003499695] Chr10:63189378 [GRCh38]
Chr10:64949138 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.168+19C>T single nucleotide variant Early myoclonic encephalopathy [RCV003854107] Chr10:63465476 [GRCh38]
Chr10:65225236 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.441C>T (p.Pro147=) single nucleotide variant Early myoclonic encephalopathy [RCV003859674] Chr10:63264657 [GRCh38]
Chr10:65024417 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.11A>G (p.Glu4Gly) single nucleotide variant Early myoclonic encephalopathy [RCV003859172] Chr10:63465652 [GRCh38]
Chr10:65225412 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5604C>T (p.Cys1868=) single nucleotide variant Early myoclonic encephalopathy [RCV003857019] Chr10:63197451 [GRCh38]
Chr10:64957211 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.97_105del (p.Gly33_Arg35del) deletion Early myoclonic encephalopathy [RCV003858205]|not provided [RCV004696571] Chr10:63465558..63465566 [GRCh38]
Chr10:65225318..65225326 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.112C>T (p.Arg38Ter) single nucleotide variant Early myoclonic encephalopathy [RCV003842609] Chr10:63465551 [GRCh38]
Chr10:65225311 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4012C>T (p.His1338Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV003871936] Chr10:63207657 [GRCh38]
Chr10:64967417 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3160_3161delinsAT (p.Ser1054Ile) indel Early myoclonic encephalopathy [RCV003872355] Chr10:63208508..63208509 [GRCh38]
Chr10:64968268..64968269 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.*9_*10del deletion JMJD1C-related disorder [RCV003941476] Chr10:63168035..63168036 [GRCh38]
Chr10:64927795..64927796 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.68C>T (p.Ala23Val) single nucleotide variant Early myoclonic encephalopathy [RCV003869334]|not specified [RCV004927966] Chr10:63465595 [GRCh38]
Chr10:65225355 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1528A>G (p.Ile510Val) single nucleotide variant Early myoclonic encephalopathy [RCV003853253] Chr10:63214639 [GRCh38]
Chr10:64974399 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2007T>C (p.Gly669=) single nucleotide variant Early myoclonic encephalopathy [RCV003820572] Chr10:63214160 [GRCh38]
Chr10:64973920 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1600C>G (p.Leu534Val) single nucleotide variant Early myoclonic encephalopathy [RCV003862231] Chr10:63214567 [GRCh38]
Chr10:64974327 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.304A>G (p.Lys102Glu) single nucleotide variant Early myoclonic encephalopathy [RCV003818271]|not specified [RCV005353291] Chr10:63380347 [GRCh38]
Chr10:65140107 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7533+3A>G single nucleotide variant Early myoclonic encephalopathy [RCV003866529] Chr10:63168432 [GRCh38]
Chr10:64928192 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2565T>C (p.Asn855=) single nucleotide variant Early myoclonic encephalopathy [RCV003821585] Chr10:63213602 [GRCh38]
Chr10:64973362 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3340G>C (p.Val1114Leu) single nucleotide variant JMJD1C-related disorder [RCV003944719] Chr10:63208329 [GRCh38]
Chr10:64968089 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3976A>G (p.Lys1326Glu) single nucleotide variant JMJD1C-related disorder [RCV003894152] Chr10:63207693 [GRCh38]
Chr10:64967453 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.11:g.(?_59792917)_(68231677_?)del deletion Intellectual developmental disorder, autosomal dominant 70 [RCV003883491] Chr10:59792917..68231677 [GRCh38]
Chr10:10q21.2-21.3		 likely pathogenic
NM_032776.3(JMJD1C):c.1298C>A (p.Pro433His) single nucleotide variant not specified [RCV004401250] Chr10:63214869 [GRCh38]
Chr10:64974629 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1378A>G (p.Met460Val) single nucleotide variant not specified [RCV004401251] Chr10:63214789 [GRCh38]
Chr10:64974549 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.220G>A (p.Val74Ile) single nucleotide variant not specified [RCV004401252] Chr10:63380431 [GRCh38]
Chr10:65140191 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2289T>G (p.His763Gln) single nucleotide variant not specified [RCV004401253] Chr10:63213878 [GRCh38]
Chr10:64973638 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2950T>A (p.Ser984Thr) single nucleotide variant not specified [RCV004401254] Chr10:63208719 [GRCh38]
Chr10:64968479 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4844G>A (p.Arg1615Lys) single nucleotide variant Early myoclonic encephalopathy [RCV005104486]|not specified [RCV004401255] Chr10:63206825 [GRCh38]
Chr10:64966585 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.497A>T (p.His166Leu) single nucleotide variant not specified [RCV004401256] Chr10:63219934 [GRCh38]
Chr10:64979694 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5896A>G (p.Ile1966Val) single nucleotide variant not specified [RCV004401257] Chr10:63193118 [GRCh38]
Chr10:64952878 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6057A>C (p.Lys2019Asn) single nucleotide variant not specified [RCV004401258] Chr10:63192957 [GRCh38]
Chr10:64952717 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6521A>G (p.Lys2174Arg) single nucleotide variant not specified [RCV004401259] Chr10:63189217 [GRCh38]
Chr10:64948977 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6633T>G (p.Ile2211Met) single nucleotide variant not specified [RCV004401260] Chr10:63186321 [GRCh38]
Chr10:64946081 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6698C>T (p.Ala2233Val) single nucleotide variant not specified [RCV004401261] Chr10:63186256 [GRCh38]
Chr10:64946016 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1272A>C (p.Glu424Asp) single nucleotide variant not specified [RCV004401249] Chr10:63214895 [GRCh38]
Chr10:64974655 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4498A>T (p.Ser1500Cys) single nucleotide variant not specified [RCV004635760] Chr10:63207171 [GRCh38]
Chr10:64966931 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.475C>A (p.Leu159Ile) single nucleotide variant not specified [RCV004635762] Chr10:63219956 [GRCh38]
Chr10:64979716 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6019T>G (p.Ser2007Ala) single nucleotide variant not specified [RCV004635761] Chr10:63192995 [GRCh38]
Chr10:64952755 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3450T>G (p.Ile1150Met) single nucleotide variant not specified [RCV004635759] Chr10:63208219 [GRCh38]
Chr10:64967979 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1637A>G (p.His546Arg) single nucleotide variant not specified [RCV004626526] Chr10:63214530 [GRCh38]
Chr10:64974290 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2879_2882del (p.Arg960fs) microsatellite JMJD1C-related disorder [RCV004728145] Chr10:63208787..63208790 [GRCh38]
Chr10:64968547..64968550 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.55G>A (p.Val19Ile) single nucleotide variant JMJD1C-related disorder [RCV004748051] Chr10:63465608 [GRCh38]
Chr10:65225368 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.833C>T (p.Thr278Ile) single nucleotide variant JMJD1C-related disorder [RCV004748072] Chr10:63215445 [GRCh38]
Chr10:64975205 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6830+10T>G single nucleotide variant Early myoclonic encephalopathy [RCV005197031] Chr10:63185553 [GRCh38]
Chr10:64945313 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2694+10A>T single nucleotide variant Early myoclonic encephalopathy [RCV005173638] Chr10:63213463 [GRCh38]
Chr10:64973223 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2462G>C (p.Ser821Thr) single nucleotide variant Early myoclonic encephalopathy [RCV005196264] Chr10:63213705 [GRCh38]
Chr10:64973465 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4704G>T (p.Met1568Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005175977] Chr10:63206965 [GRCh38]
Chr10:64966725 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2454T>G (p.Ala818=) single nucleotide variant Early myoclonic encephalopathy [RCV005066308] Chr10:63213713 [GRCh38]
Chr10:64973473 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6579G>C (p.Val2193=) single nucleotide variant Early myoclonic encephalopathy [RCV005174245] Chr10:63186375 [GRCh38]
Chr10:64946135 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6742C>A (p.Arg2248=) single nucleotide variant Early myoclonic encephalopathy [RCV005106704] Chr10:63185651 [GRCh38]
Chr10:64945411 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4807A>G (p.Ile1603Val) single nucleotide variant Early myoclonic encephalopathy [RCV005085123] Chr10:63206862 [GRCh38]
Chr10:64966622 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6163C>T (p.Leu2055Phe) single nucleotide variant not specified [RCV004929897] Chr10:63191022 [GRCh38]
Chr10:64950782 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3191T>C (p.Ile1064Thr) single nucleotide variant not specified [RCV004929898] Chr10:63208478 [GRCh38]
Chr10:64968238 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6569A>C (p.Gln2190Pro) single nucleotide variant not specified [RCV004929912] Chr10:63189169 [GRCh38]
Chr10:64948929 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1678G>T (p.Asp560Tyr) single nucleotide variant not specified [RCV004929913] Chr10:63214489 [GRCh38]
Chr10:64974249 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1414G>C (p.Asp472His) single nucleotide variant not specified [RCV004929914] Chr10:63214753 [GRCh38]
Chr10:64974513 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6740-16del deletion Early myoclonic encephalopathy [RCV005063749] Chr10:63185669 [GRCh38]
Chr10:64945429 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1479G>A (p.Leu493=) single nucleotide variant Early myoclonic encephalopathy [RCV005174456] Chr10:63214688 [GRCh38]
Chr10:64974448 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2446G>C (p.Glu816Gln) single nucleotide variant Early myoclonic encephalopathy [RCV005105823] Chr10:63213721 [GRCh38]
Chr10:64973481 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3456_3458del (p.His1152del) deletion Early myoclonic encephalopathy [RCV005171936] Chr10:63208211..63208213 [GRCh38]
Chr10:64967971..64967973 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.901C>T (p.His301Tyr) single nucleotide variant not specified [RCV004929900] Chr10:63215377 [GRCh38]
Chr10:64975137 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4037C>A (p.Ala1346Glu) single nucleotide variant not specified [RCV004929901] Chr10:63207632 [GRCh38]
Chr10:64967392 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.359A>T (p.Asn120Ile) single nucleotide variant not specified [RCV004929902] Chr10:63264739 [GRCh38]
Chr10:65024499 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6436G>A (p.Ala2146Thr) single nucleotide variant not specified [RCV004929903] Chr10:63189302 [GRCh38]
Chr10:64949062 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6758G>A (p.Ser2253Asn) single nucleotide variant not specified [RCV004929909] Chr10:63185635 [GRCh38]
Chr10:64945395 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2140T>C (p.Tyr714His) single nucleotide variant Early myoclonic encephalopathy [RCV005060488] Chr10:63214027 [GRCh38]
Chr10:64973787 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3102C>T (p.Pro1034=) single nucleotide variant Early myoclonic encephalopathy [RCV005087130] Chr10:63208567 [GRCh38]
Chr10:64968327 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7534-13A>G single nucleotide variant Early myoclonic encephalopathy [RCV005169990] Chr10:63168147 [GRCh38]
Chr10:64927907 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6163C>G (p.Leu2055Val) single nucleotide variant Early myoclonic encephalopathy [RCV005173933] Chr10:63191022 [GRCh38]
Chr10:64950782 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6265G>T (p.Ala2089Ser) single nucleotide variant not specified [RCV004929904] Chr10:63190920 [GRCh38]
Chr10:64950680 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1285A>G (p.Asn429Asp) single nucleotide variant not specified [RCV004929905] Chr10:63214882 [GRCh38]
Chr10:64974642 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1103G>T (p.Arg368Leu) single nucleotide variant not specified [RCV004929906] Chr10:63215064 [GRCh38]
Chr10:64974824 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6325C>T (p.Leu2109Phe) single nucleotide variant not specified [RCV004929908] Chr10:63189413 [GRCh38]
Chr10:64949173 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7053A>G (p.Ile2351Met) single nucleotide variant not specified [RCV004929893] Chr10:63183478 [GRCh38]
Chr10:64943238 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7231A>G (p.Lys2411Glu) single nucleotide variant not specified [RCV004929896] Chr10:63176467 [GRCh38]
Chr10:64936227 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3164C>T (p.Ser1055Leu) single nucleotide variant Early myoclonic encephalopathy [RCV005159300]|not specified [RCV005365448] Chr10:63208505 [GRCh38]
Chr10:64968265 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6374A>G (p.Lys2125Arg) single nucleotide variant Early myoclonic encephalopathy [RCV005177220] Chr10:63189364 [GRCh38]
Chr10:64949124 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.723C>T (p.Thr241=) single nucleotide variant Early myoclonic encephalopathy [RCV005207983] Chr10:63215652 [GRCh38]
Chr10:64975412 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1860A>G (p.Pro620=) single nucleotide variant Early myoclonic encephalopathy [RCV005206629] Chr10:63214307 [GRCh38]
Chr10:64974067 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5945C>T (p.Ser1982Phe) single nucleotide variant Early myoclonic encephalopathy [RCV005205403] Chr10:63193069 [GRCh38]
Chr10:64952829 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1685A>T (p.Asp562Val) single nucleotide variant Early myoclonic encephalopathy [RCV005118053] Chr10:63214482 [GRCh38]
Chr10:64974242 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.890A>T (p.Lys297Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005205635] Chr10:63215388 [GRCh38]
Chr10:64975148 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2533C>A (p.Leu845Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005078318] Chr10:63213634 [GRCh38]
Chr10:64973394 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2194_2195insAT (p.Phe732fs) insertion Early myoclonic encephalopathy [RCV005207886] Chr10:63213972..63213973 [GRCh38]
Chr10:64973732..64973733 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5492-50_5503del deletion Early myoclonic encephalopathy [RCV005159969] Chr10:63197552..63197613 [GRCh38]
Chr10:64957312..64957373 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3983_3984delinsAA (p.Arg1328Gln) indel Early myoclonic encephalopathy [RCV005162991] Chr10:63207685..63207686 [GRCh38]
Chr10:64967445..64967446 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1244A>T (p.Lys415Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005118303] Chr10:63214923 [GRCh38]
Chr10:64974683 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.82T>G (p.Trp28Gly) single nucleotide variant Early myoclonic encephalopathy [RCV005160179] Chr10:63465581 [GRCh38]
Chr10:65225341 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7401+11A>C single nucleotide variant Early myoclonic encephalopathy [RCV005163051] Chr10:63176286 [GRCh38]
Chr10:64936046 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4013A>G (p.His1338Arg) single nucleotide variant Early myoclonic encephalopathy [RCV005133481] Chr10:63207656 [GRCh38]
Chr10:64967416 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5075-16C>A single nucleotide variant Early myoclonic encephalopathy [RCV005119946] Chr10:63200693 [GRCh38]
Chr10:64960453 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.932C>G (p.Pro311Arg) single nucleotide variant Early myoclonic encephalopathy [RCV005079914] Chr10:63215346 [GRCh38]
Chr10:64975106 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3110C>T (p.Thr1037Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005157706] Chr10:63208559 [GRCh38]
Chr10:64968319 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2084C>T (p.Thr695Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005152289] Chr10:63214083 [GRCh38]
Chr10:64973843 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.568A>G (p.Asn190Asp) single nucleotide variant Early myoclonic encephalopathy [RCV005200803] Chr10:63217317 [GRCh38]
Chr10:64977077 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.410A>G (p.Asp137Gly) single nucleotide variant Early myoclonic encephalopathy [RCV005150299] Chr10:63264688 [GRCh38]
Chr10:65024448 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.283C>T (p.Pro95Ser) single nucleotide variant Early myoclonic encephalopathy [RCV005118746] Chr10:63380368 [GRCh38]
Chr10:65140128 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3447G>A (p.Leu1149=) single nucleotide variant Early myoclonic encephalopathy [RCV005141305] Chr10:63208222 [GRCh38]
Chr10:64967982 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.348G>C (p.Leu116=) single nucleotide variant Early myoclonic encephalopathy [RCV005183949] Chr10:63264750 [GRCh38]
Chr10:65024510 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6826G>A (p.Ala2276Thr) single nucleotide variant Early myoclonic encephalopathy [RCV005187694] Chr10:63185567 [GRCh38]
Chr10:64945327 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5244A>C (p.Ser1748=) single nucleotide variant Early myoclonic encephalopathy [RCV005163907] Chr10:63200508 [GRCh38]
Chr10:64960268 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6092C>T (p.Thr2031Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005084041] Chr10:63191093 [GRCh38]
Chr10:64950853 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7242C>G (p.Gly2414=) single nucleotide variant Early myoclonic encephalopathy [RCV005084053] Chr10:63176456 [GRCh38]
Chr10:64936216 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6410A>G (p.Glu2137Gly) single nucleotide variant Early myoclonic encephalopathy [RCV005144243] Chr10:63189328 [GRCh38]
Chr10:64949088 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7107A>G (p.Glu2369=) single nucleotide variant Early myoclonic encephalopathy [RCV005142254] Chr10:63177834 [GRCh38]
Chr10:64937594 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.7015G>A (p.Val2339Ile) single nucleotide variant not provided [RCV005244660] Chr10:63183516 [GRCh38]
Chr10:64943276 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.553+5C>T single nucleotide variant Early myoclonic encephalopathy [RCV005128574] Chr10:63219873 [GRCh38]
Chr10:64979633 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2429G>C (p.Gly810Ala) single nucleotide variant Early myoclonic encephalopathy [RCV005159942] Chr10:63213738 [GRCh38]
Chr10:64973498 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3853G>C (p.Glu1285Gln) single nucleotide variant Early myoclonic encephalopathy [RCV005137432] Chr10:63207816 [GRCh38]
Chr10:64967576 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5491+17T>C single nucleotide variant Early myoclonic encephalopathy [RCV005167375] Chr10:63198496 [GRCh38]
Chr10:64958256 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1361C>T (p.Thr454Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005137811] Chr10:63214806 [GRCh38]
Chr10:64974566 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3203T>C (p.Met1068Thr) single nucleotide variant Early myoclonic encephalopathy [RCV005197453] Chr10:63208466 [GRCh38]
Chr10:64968226 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1893A>G (p.Val631=) single nucleotide variant Early myoclonic encephalopathy [RCV005169819] Chr10:63214274 [GRCh38]
Chr10:64974034 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2189C>T (p.Ser730Leu) single nucleotide variant Early myoclonic encephalopathy [RCV005176852] Chr10:63213978 [GRCh38]
Chr10:64973738 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6098A>G (p.Glu2033Gly) single nucleotide variant Early myoclonic encephalopathy [RCV005161843] Chr10:63191087 [GRCh38]
Chr10:64950847 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.735T>A (p.Asp245Glu) single nucleotide variant Early myoclonic encephalopathy [RCV005140545] Chr10:63215640 [GRCh38]
Chr10:64975400 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2694+16G>T single nucleotide variant Early myoclonic encephalopathy [RCV005136705] Chr10:63213457 [GRCh38]
Chr10:64973217 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.1580G>C (p.Ser527Thr) single nucleotide variant Early myoclonic encephalopathy [RCV005157579] Chr10:63214587 [GRCh38]
Chr10:64974347 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5644+13G>A single nucleotide variant Early myoclonic encephalopathy [RCV005207286] Chr10:63197398 [GRCh38]
Chr10:64957158 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3321A>T (p.Arg1107Ser) single nucleotide variant Early myoclonic encephalopathy [RCV005119172] Chr10:63208348 [GRCh38]
Chr10:64968108 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4291G>A (p.Glu1431Lys) single nucleotide variant Early myoclonic encephalopathy [RCV005167050] Chr10:63207378 [GRCh38]
Chr10:64967138 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7360C>T (p.Leu2454Phe) single nucleotide variant Early myoclonic encephalopathy [RCV005136786] Chr10:63176338 [GRCh38]
Chr10:64936098 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7161T>C (p.Pro2387=) single nucleotide variant Early myoclonic encephalopathy [RCV005127797] Chr10:63177780 [GRCh38]
Chr10:64937540 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2193T>C (p.Pro731=) single nucleotide variant Early myoclonic encephalopathy [RCV005207893] Chr10:63213974 [GRCh38]
Chr10:64973734 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.5424A>G (p.Ile1808Met) single nucleotide variant Early myoclonic encephalopathy [RCV005207940] Chr10:63198580 [GRCh38]
Chr10:64958340 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3119A>C (p.Lys1040Thr) single nucleotide variant Early myoclonic encephalopathy [RCV005187061] Chr10:63208550 [GRCh38]
Chr10:64968310 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5527C>T (p.Arg1843Trp) single nucleotide variant Early myoclonic encephalopathy [RCV005166871] Chr10:63197528 [GRCh38]
Chr10:64957288 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2761A>G (p.Ser921Gly) single nucleotide variant Early myoclonic encephalopathy [RCV005163993] Chr10:63209169 [GRCh38]
Chr10:64968929 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6232C>T (p.Arg2078Cys) single nucleotide variant Early myoclonic encephalopathy [RCV005141931] Chr10:63190953 [GRCh38]
Chr10:64950713 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5989G>A (p.Asp1997Asn) single nucleotide variant Early myoclonic encephalopathy [RCV005142150] Chr10:63193025 [GRCh38]
Chr10:64952785 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1646C>T (p.Ala549Val) single nucleotide variant Early myoclonic encephalopathy [RCV005133485] Chr10:63214521 [GRCh38]
Chr10:64974281 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2258C>T (p.Thr753Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005128903] Chr10:63213909 [GRCh38]
Chr10:64973669 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6813G>A (p.Lys2271=) single nucleotide variant Early myoclonic encephalopathy [RCV005139331] Chr10:63185580 [GRCh38]
Chr10:64945340 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2594A>G (p.Gln865Arg) single nucleotide variant Early myoclonic encephalopathy [RCV005185427] Chr10:63213573 [GRCh38]
Chr10:64973333 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6076+7A>G single nucleotide variant Early myoclonic encephalopathy [RCV005077571] Chr10:63192931 [GRCh38]
Chr10:64952691 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.6675C>T (p.Cys2225=) single nucleotide variant Early myoclonic encephalopathy [RCV005079761] Chr10:63186279 [GRCh38]
Chr10:64946039 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.447+9T>G single nucleotide variant Early myoclonic encephalopathy [RCV005122487] Chr10:63264642 [GRCh38]
Chr10:65024402 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3349A>C (p.Ile1117Leu) single nucleotide variant Early myoclonic encephalopathy [RCV005200802] Chr10:63208320 [GRCh38]
Chr10:64968080 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.5644+4G>A single nucleotide variant Early myoclonic encephalopathy [RCV005068935] Chr10:63197407 [GRCh38]
Chr10:64957167 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7375G>T (p.Val2459Phe) single nucleotide variant Early myoclonic encephalopathy [RCV005180251] Chr10:63176323 [GRCh38]
Chr10:64936083 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1404C>G (p.Ser468=) single nucleotide variant Early myoclonic encephalopathy [RCV005130852] Chr10:63214763 [GRCh38]
Chr10:64974523 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.2120A>G (p.Lys707Arg) single nucleotide variant Early myoclonic encephalopathy [RCV005075197] Chr10:63214047 [GRCh38]
Chr10:64973807 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7052T>A (p.Ile2351Lys) single nucleotide variant Early myoclonic encephalopathy [RCV005122931] Chr10:63183479 [GRCh38]
Chr10:64943239 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4983A>G (p.Lys1661=) single nucleotide variant Early myoclonic encephalopathy [RCV005177019] Chr10:63206686 [GRCh38]
Chr10:64966446 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.545T>C (p.Phe182Ser) single nucleotide variant Early myoclonic encephalopathy [RCV005205986] Chr10:63219886 [GRCh38]
Chr10:64979646 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2455C>T (p.His819Tyr) single nucleotide variant Early myoclonic encephalopathy [RCV005182849] Chr10:63213712 [GRCh38]
Chr10:64973472 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.678+13A>G single nucleotide variant Early myoclonic encephalopathy [RCV005074440] Chr10:63217194 [GRCh38]
Chr10:64976954 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.80G>C (p.Arg27Pro) single nucleotide variant Early myoclonic encephalopathy [RCV005129861] Chr10:63465583 [GRCh38]
Chr10:65225343 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.333+10A>C single nucleotide variant Early myoclonic encephalopathy [RCV005154343] Chr10:63380308 [GRCh38]
Chr10:65140068 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.4121C>T (p.Ala1374Val) single nucleotide variant Early myoclonic encephalopathy [RCV005073638] Chr10:63207548 [GRCh38]
Chr10:64967308 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2368G>A (p.Val790Ile) single nucleotide variant Early myoclonic encephalopathy [RCV005128807] Chr10:63213799 [GRCh38]
Chr10:64973559 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2867+18T>G single nucleotide variant Early myoclonic encephalopathy [RCV005204892] Chr10:63209045 [GRCh38]
Chr10:64968805 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.3079C>G (p.Gln1027Glu) single nucleotide variant Early myoclonic encephalopathy [RCV005127766] Chr10:63208590 [GRCh38]
Chr10:64968350 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7184C>T (p.Ala2395Val) single nucleotide variant Early myoclonic encephalopathy [RCV005153346] Chr10:63177757 [GRCh38]
Chr10:64937517 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3983_3984delinsCA (p.Arg1328Pro) indel Early myoclonic encephalopathy [RCV005073697] Chr10:63207685..63207686 [GRCh38]
Chr10:64967445..64967446 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.774T>A (p.Ile258=) single nucleotide variant Early myoclonic encephalopathy [RCV005180715] Chr10:63215601 [GRCh38]
Chr10:64975361 [GRCh37]
Chr10:10q21.3		 likely benign
NM_032776.3(JMJD1C):c.886C>T (p.Pro296Ser) single nucleotide variant Early myoclonic encephalopathy [RCV005130293] Chr10:63215392 [GRCh38]
Chr10:64975152 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.6040G>A (p.Asp2014Asn) single nucleotide variant Early myoclonic encephalopathy [RCV005151479] Chr10:63192974 [GRCh38]
Chr10:64952734 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7237C>G (p.Gln2413Glu) single nucleotide variant not specified [RCV005363381] Chr10:63176461 [GRCh38]
Chr10:64936221 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.740T>G (p.Val247Gly) single nucleotide variant not specified [RCV005370800] Chr10:63215635 [GRCh38]
Chr10:64975395 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2777G>C (p.Arg926Thr) single nucleotide variant not specified [RCV005358774] Chr10:63209153 [GRCh38]
Chr10:64968913 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.527A>G (p.Gln176Arg) single nucleotide variant not specified [RCV005358776] Chr10:63219904 [GRCh38]
Chr10:64979664 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3401A>G (p.Gln1134Arg) single nucleotide variant not specified [RCV005363379] Chr10:63208268 [GRCh38]
Chr10:64968028 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.7576G>A (p.Ala2526Thr) single nucleotide variant not specified [RCV005363382] Chr10:63168092 [GRCh38]
Chr10:64927852 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3762A>G (p.Ile1254Met) single nucleotide variant not specified [RCV005358775] Chr10:63207907 [GRCh38]
Chr10:64967667 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1739C>A (p.Thr580Lys) single nucleotide variant not specified [RCV005358779] Chr10:63214428 [GRCh38]
Chr10:64974188 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3659A>G (p.Lys1220Arg) single nucleotide variant not specified [RCV005347267] Chr10:63208010 [GRCh38]
Chr10:64967770 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.357A>T (p.Arg119Ser) single nucleotide variant not specified [RCV005347268] Chr10:63264741 [GRCh38]
Chr10:65024501 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.3583A>G (p.Asn1195Asp) single nucleotide variant not specified [RCV005347269] Chr10:63208086 [GRCh38]
Chr10:64967846 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.190C>G (p.Leu64Val) single nucleotide variant not specified [RCV005358777] Chr10:63380461 [GRCh38]
Chr10:65140221 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.2953C>G (p.Gln985Glu) single nucleotide variant not specified [RCV005358778] Chr10:63208716 [GRCh38]
Chr10:64968476 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.1365G>C (p.Gln455His) single nucleotide variant not specified [RCV005370799] Chr10:63214802 [GRCh38]
Chr10:64974562 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.664G>C (p.Val222Leu) single nucleotide variant not specified [RCV005363378] Chr10:63217221 [GRCh38]
Chr10:64976981 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.413T>G (p.Phe138Cys) single nucleotide variant not specified [RCV005363380] Chr10:63264685 [GRCh38]
Chr10:65024445 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4042G>A (p.Ala1348Thr) single nucleotide variant not specified [RCV004929911] Chr10:63207627 [GRCh38]
Chr10:64967387 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_032776.3(JMJD1C):c.4567A>G (p.Ile1523Val) single nucleotide variant not specified [RCV004929910] Chr10:63207102 [GRCh38]
Chr10:64966862 [GRCh37]
Chr10:10q21.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2737
Count of miRNA genes:1038
Interacting mature miRNAs:1251
Transcripts:ENST00000327520, ENST00000399251, ENST00000399262, ENST00000402544, ENST00000467356, ENST00000469152, ENST00000483298, ENST00000489372, ENST00000490669, ENST00000497922, ENST00000542921
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597066647GWAS1162721_Htriglyceride measurement QTL GWAS1162721 (human)1e-18triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106317478863174789Human
597072788GWAS1168862_Halkaline phosphatase measurement QTL GWAS1168862 (human)1e-22blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106335844363358444Human
597179292GWAS1275366_Homega-6:omega-3 polyunsaturated fatty acid ratio QTL GWAS1275366 (human)7e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106343188563431886Human
597179294GWAS1275368_Hphospholipids in chylomicrons and extremely large VLDL measurement QTL GWAS1275368 (human)3e-17blood phospholipid amount (VT:0006084)106343188563431886Human
597066650GWAS1162724_Htriglyceride measurement QTL GWAS1162724 (human)2e-20triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106324563963245640Human
597066648GWAS1162722_Htriglyceride measurement QTL GWAS1162722 (human)1e-20triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106317478863174789Human
597278615GWAS1374689_Hsex hormone-binding globulin measurement QTL GWAS1374689 (human)1e-80sex hormone-binding globulin measurement106336433863364339Human
597066649GWAS1162723_Htriglyceride measurement QTL GWAS1162723 (human)4e-17triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106324563963245640Human
407122004GWAS770980_Hsex hormone-binding globulin measurement QTL GWAS770980 (human)2e-13sex hormone-binding globulin measurement106337915063379151Human
597421960GWAS1518034_Hsex hormone-binding globulin measurement QTL GWAS1518034 (human)1e-13sex hormone-binding globulin measurement106350588063505881Human
596955008GWAS1074527_Htriglyceride:HDL cholesterol ratio QTL GWAS1074527 (human)6e-12triglyceride:HDL cholesterol ratio106343188563431886Human
597285761GWAS1381835_Hcholesterol:total lipids ratio, cholesteryl esters:total lipids ratio QTL GWAS1381835 (human)1e-09cholesterol:total lipids ratio, cholesteryl esters:total lipids ratio106316806363168064Human
597156747GWAS1252821_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1252821 (human)2e-18blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106341634563416346Human
407162981GWAS811957_Htriglyceride measurement QTL GWAS811957 (human)8e-12triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106326785063267851Human
597182394GWAS1278468_Hfree cholesterol in large VLDL measurement QTL GWAS1278468 (human)3e-12blood VLDL cholesterol amount (VT:0005144)106343188563431886Human
597280698GWAS1376772_Hsex hormone-binding globulin measurement QTL GWAS1376772 (human)1e-48sex hormone-binding globulin measurement106319582163195822Human
406921314GWAS570290_Hneutrophil percentage of leukocytes QTL GWAS570290 (human)3e-11neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)106326785063267851Human
597183419GWAS1279493_Htriglycerides in chylomicrons and extremely large VLDL measurement QTL GWAS1279493 (human)6e-16blood triglyceride amount (VT:0002644)106343188563431886Human
597066684GWAS1162758_Htriglyceride measurement QTL GWAS1162758 (human)2e-20triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106344404863444049Human
597066685GWAS1162759_Htriglyceride measurement QTL GWAS1162759 (human)2e-23triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106344404863444049Human
597066682GWAS1162756_Htriglyceride measurement QTL GWAS1162756 (human)3e-14triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106326785063267851Human
597066683GWAS1162757_Htriglyceride measurement QTL GWAS1162757 (human)1e-16triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106326785063267851Human
597347253GWAS1443327_Hbody fat percentage QTL GWAS1443327 (human)5e-10body fat mass (VT:0010482)body fat percentage (CMO:0000302)106346122463461225Human
597034916GWAS1130990_Hhigh density lipoprotein cholesterol measurement QTL GWAS1130990 (human)5e-13blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106329244563292446Human
597445544GWAS1541618_Hsystolic blood pressure QTL GWAS1541618 (human)6e-13arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)106344889263448893Human
597216173GWAS1312247_Hdickkopf‐related protein 1 measurement QTL GWAS1312247 (human)6e-39dickkopf‐related protein 1 measurement106334474063344741Human
597155754GWAS1251828_Hcholesteryl ester measurement, intermediate density lipoprotein measurement QTL GWAS1251828 (human)6e-18blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597618653GWAS1675513_Hatrial fibrillation QTL GWAS1675513 (human)2e-17atrial fibrillation106331823463318235Human
597222365GWAS1318439_HThrombocytopenia QTL GWAS1318439 (human)4e-10Thrombocytopenia106328037963280380Human
407137292GWAS786268_Htriglyceride measurement QTL GWAS786268 (human)3e-12triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106326785063267851Human
597083098GWAS1179172_Hplatelet count QTL GWAS1179172 (human)2e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)106333649063336491Human
597345239GWAS1441313_Hlymphocyte count QTL GWAS1441313 (human)3e-11lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)106337501863375019Human
597151687GWAS1247761_Hcholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1247761 (human)1e-32blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106341634563416346Human
597590989GWAS1647849_Hplatelet count QTL GWAS1647849 (human)9e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)106328854663288547Human
407160862GWAS809838_Hplatelet count QTL GWAS809838 (human)0.000002platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597267396GWAS1363470_Homega-3 polyunsaturated fatty acid measurement QTL GWAS1363470 (human)9e-09fatty acid amount (VT:0010046)106343188563431886Human
406968351GWAS617327_Hneutrophil count, basophil count QTL GWAS617327 (human)1e-22basophil quantity (VT:0002607)blood granulocyte count (CMO:0000111)106334474063344741Human
406963235GWAS612211_Homega-6 polyunsaturated fatty acid measurement QTL GWAS612211 (human)8e-09fatty acid amount (VT:0010046)106334144763341448Human
597243899GWAS1339973_Hsex hormone-binding globulin measurement QTL GWAS1339973 (human)4e-47sex hormone-binding globulin measurement106340691063406911Human
597221372GWAS1317446_Halkaline phosphatase measurement QTL GWAS1317446 (human)1e-11blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106319307563193076Human
597221373GWAS1317447_Halkaline phosphatase measurement QTL GWAS1317447 (human)2e-11blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106321462063214621Human
597221374GWAS1317448_Halkaline phosphatase measurement QTL GWAS1317448 (human)2e-11blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106323828963238290Human
597606388GWAS1663248_Hgout QTL GWAS1663248 (human)2e-11joint integrity trait (VT:0010548)106338765963387660Human
597021689GWAS1117763_Hinterleukin 10 measurement QTL GWAS1117763 (human)0.0000003blood interleukin-10 amount (VT:0008590)106325641463256415Human
597609454GWAS1666314_Htesticular disease QTL GWAS1666314 (human)2e-20testicular disease106338932963389330Human
597597167GWAS1654027_Hlow density lipoprotein cholesterol measurement QTL GWAS1654027 (human)6e-16blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106338765963387660Human
597204970GWAS1301044_Hforced expiratory volume QTL GWAS1301044 (human)9e-14lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)106332770863327709Human
597099499GWAS1195573_Hsex hormone-binding globulin measurement QTL GWAS1195573 (human)6e-650sex hormone-binding globulin measurement106329705363297054Human
597153768GWAS1249842_Hfree cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1249842 (human)8e-16blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597040916GWAS1136990_Htriglyceride measurement QTL GWAS1136990 (human)6e-35triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106344404863444049Human
597023506GWAS1119580_Hbreast carcinoma QTL GWAS1119580 (human)0.0000003mammary gland integrity trait (VT:0010552)106319783163197832Human
597618457GWAS1675317_Htriglyceride measurement QTL GWAS1675317 (human)5e-50triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597314320GWAS1410394_Htriglyceride measurement QTL GWAS1410394 (human)4e-52triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597349132GWAS1445206_Hbody mass index QTL GWAS1445206 (human)7e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)106322917163229172Human
597604100GWAS1660960_Hprothrombin time measurement QTL GWAS1660960 (human)8e-17blood coagulation trait (VT:0002551)prothrombin time (CMO:0000211)106336433863364339Human
597184259GWAS1280333_Hcholesterol in IDL measurement QTL GWAS1280333 (human)3e-14cholesterol in IDL measurement 106317478863174789Human
597084939GWAS1181013_Hplatelet count QTL GWAS1181013 (human)6e-382platelet quantity (VT:0003179)platelet count (CMO:0000029)106333649063336491Human
597596929GWAS1653789_Hlow density lipoprotein cholesterol measurement QTL GWAS1653789 (human)8e-14blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106338765963387660Human
597151496GWAS1247570_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1247570 (human)4e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106343188563431886Human
596956987GWAS1076506_Htriglyceride:HDL cholesterol ratio QTL GWAS1076506 (human)3e-35triglyceride:HDL cholesterol ratio106343188563431886Human
597604143GWAS1661003_Htriglyceride measurement QTL GWAS1661003 (human)5e-80triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
406959351GWAS608327_Hreticulocyte count QTL GWAS608327 (human)1e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)106321439663214397Human
597283631GWAS1379705_Hhemoglobin A1 measurement QTL GWAS1379705 (human)7e-13blood hemoglobin amount (VT:0001588)106322917163229172Human
597143342GWAS1239416_Htriglyceride measurement QTL GWAS1239416 (human)3e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106330605963306060Human
597143340GWAS1239414_Htriglyceride measurement QTL GWAS1239414 (human)1e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106320095763200958Human
597143339GWAS1239413_Htriglyceride measurement QTL GWAS1239413 (human)1e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343267163432672Human
596955947GWAS1075466_Hlymphocyte measurement, neutrophil measurement QTL GWAS1075466 (human)3e-09lymphocyte measurement, neutrophil measurement106330551063305511Human
597130070GWAS1226144_Hmitochondrial DNA measurement QTL GWAS1226144 (human)1e-98tissue deoxyribonucleic acid amount (VT:0011005)106334474063344741Human
597429080GWAS1525154_Htestosterone measurement QTL GWAS1525154 (human)2e-25blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351172863511729Human
597421919GWAS1517993_Hsex hormone-binding globulin measurement QTL GWAS1517993 (human)1e-60sex hormone-binding globulin measurement106351545463515455Human
406940804GWAS589780_Hvital capacity QTL GWAS589780 (human)5e-10lung capacity (VT:0001942)106323921163239212Human
597096272GWAS1192346_Htriglyceride measurement QTL GWAS1192346 (human)2e-10triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106322917163229172Human
597591894GWAS1648754_Hhemorrhagic disease QTL GWAS1648754 (human)7e-14hemorrhagic disease106328854663288547Human
597174099GWAS1270173_Hprotein measurement QTL GWAS1270173 (human)2e-12protein amount (VT:0010120)106330224863302249Human
597251926GWAS1348000_Halkaline phosphatase measurement QTL GWAS1348000 (human)9e-15blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106336771663367717Human
597348171GWAS1444245_Hbody fat percentage QTL GWAS1444245 (human)2e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)106328403563284036Human
597610316GWAS1667176_Hmonocyte count QTL GWAS1667176 (human)5e-25monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)106337591263375913Human
597348172GWAS1444246_Hbody fat percentage QTL GWAS1444246 (human)3e-63body fat mass (VT:0010482)body fat percentage (CMO:0000302)106329502663295027Human
406951063GWAS600039_Hplatelet count QTL GWAS600039 (human)3e-96platelet quantity (VT:0003179)platelet count (CMO:0000029)106330642663306427Human
597348173GWAS1444247_Hbody fat percentage QTL GWAS1444247 (human)9e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)106346122463461225Human
597108555GWAS1204629_Hself reported educational attainment QTL GWAS1204629 (human)5e-22self reported educational attainment106343188563431886Human
597422969GWAS1519043_Halkaline phosphatase measurement QTL GWAS1519043 (human)1e-47blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106351545463515455Human
597283710GWAS1379784_Hfree cholesterol in IDL measurement QTL GWAS1379784 (human)2e-10free cholesterol in IDL measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)106320165263201653Human
597416818GWAS1512892_Htestosterone measurement QTL GWAS1512892 (human)3e-196blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351172863511729Human
597080957GWAS1177031_Hlymphocyte percentage of leukocytes QTL GWAS1177031 (human)4e-09lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)106340660963406610Human
597153659GWAS1249733_Htotal cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1249733 (human)1e-17blood cholesterol amount (VT:0000180)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597241705GWAS1337779_Hbilirubin measurement QTL GWAS1337779 (human)2e-10blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)106340691063406911Human
597451630GWAS1547704_Halkaline phosphatase measurement QTL GWAS1547704 (human)7e-33blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106351516763515168Human
597110628GWAS1206702_Hurate measurement QTL GWAS1206702 (human)5e-09urate measurementblood uric acid level (CMO:0000501)106325086663250867Human
597315439GWAS1411513_Hcortical thickness QTL GWAS1411513 (human)6e-11cerebral cortex morphology trait (VT:0000788)106334474063344741Human
406971577GWAS620553_Hneutrophil count QTL GWAS620553 (human)2e-23monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)106325091263250913Human
597076846GWAS1172920_Hintelligence QTL GWAS1172920 (human)1e-08intelligence106333139963331400Human
597026669GWAS1122743_Hbody mass index QTL GWAS1122743 (human)6e-12body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)106343188563431886Human
597608295GWAS1665155_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1665155 (human)2e-12blood VLDL cholesterol amount (VT:0005144)serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)106343188563431886Human
597207906GWAS1303980_Hliver fibrosis measurement QTL GWAS1303980 (human)0.0000001liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)106326785063267851Human
597246821GWAS1342895_Halkaline phosphatase measurement QTL GWAS1342895 (human)4e-13blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106328209463282095Human
597610143GWAS1667003_Hmonocyte count QTL GWAS1667003 (human)2e-16monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)106338765963387660Human
597268123GWAS1364197_Hlow density lipoprotein cholesterol measurement QTL GWAS1364197 (human)1e-24blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106336885963368860Human
597244570GWAS1340644_Hsex hormone-binding globulin measurement QTL GWAS1340644 (human)6e-27sex hormone-binding globulin measurement106326300663263007Human
597244573GWAS1340647_Hsex hormone-binding globulin measurement QTL GWAS1340647 (human)4e-26sex hormone-binding globulin measurement106328610563286106Human
597222045GWAS1318119_Hplatelet count QTL GWAS1318119 (human)5e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)106333139963331400Human
597293727GWAS1389801_Htyrosine measurement QTL GWAS1389801 (human)3e-12blood L-tyrosine amount (VT:0010974)106316806363168064Human
597613208GWAS1670068_Hplatelet count QTL GWAS1670068 (human)2e-150platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597244567GWAS1340641_Hsex hormone-binding globulin measurement QTL GWAS1340641 (human)9e-29sex hormone-binding globulin measurement106333295963332960Human
597337749GWAS1433823_Hpuberty onset measurement QTL GWAS1433823 (human)0.0000002time of sexual maturation trait (VT:0001938)106326226263262263Human
597341834GWAS1437908_HC-X-C motif chemokine 5 measurement QTL GWAS1437908 (human)3e-11C-X-C motif chemokine 5 measurement106325696163256962Human
597077639GWAS1173713_Hasthma QTL GWAS1173713 (human)4e-08asthma106334025663340257Human
597341835GWAS1437909_HC-X-C motif chemokine 5 measurement QTL GWAS1437909 (human)3e-11C-X-C motif chemokine 5 measurement106337339663373397Human
597578379GWAS1635239_Hprothrombin time measurement QTL GWAS1635239 (human)1e-44blood coagulation trait (VT:0002551)prothrombin time (CMO:0000211)106351516763515168Human
597602953GWAS1659813_Htype 2 diabetes mellitus QTL GWAS1659813 (human)9e-22type 2 diabetes mellitus106319035063190351Human
597129856GWAS1225930_Hcortical thickness QTL GWAS1225930 (human)3e-10cerebral cortex morphology trait (VT:0000788)106334474063344741Human
597593735GWAS1650595_Hplatelet count QTL GWAS1650595 (human)1e-235platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597582465GWAS1639325_Hneutrophil count QTL GWAS1639325 (human)3e-14neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106340542463405425Human
597212856GWAS1308930_Hplatelet aggregation QTL GWAS1308930 (human)0.0000003platelet aggregation106326785063267851Human
597605054GWAS1661914_Hneutrophil count QTL GWAS1661914 (human)1e-22neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106338932963389330Human
597101234GWAS1197308_Hsex hormone-binding globulin measurement QTL GWAS1197308 (human)4e-714sex hormone-binding globulin measurement106329705363297054Human
597187261GWAS1283335_Hfree cholesterol to total lipids in very large VLDL percentage QTL GWAS1283335 (human)2e-10blood VLDL cholesterol amount (VT:0005144)106334474063344741Human
597099185GWAS1195259_Hbody mass index QTL GWAS1195259 (human)4e-13body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)106343188563431886Human
597515962GWAS1612036_Hfree androgen index QTL GWAS1612036 (human)2e-179free androgen index106352123463521235Human
407080299GWAS729275_Hwaist-hip ratio QTL GWAS729275 (human)5e-08body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)106325299063252991Human
597268147GWAS1364221_Haortic measurement QTL GWAS1364221 (human)3e-09aortic measurementaorta measurement (CMO:0001474)106329089963290900Human
597165747GWAS1261821_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1261821 (human)3e-13blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106317478863174789Human
597184180GWAS1280254_Htriglycerides in large VLDL measurement QTL GWAS1280254 (human)4e-15triglycerides in large VLDL measurementblood very low density lipoprotein triglyceride level (CMO:0002688)106343188563431886Human
597421737GWAS1517811_Halkaline phosphatase measurement QTL GWAS1517811 (human)4e-11blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106351749663517497Human
597444271GWAS1540345_Htestosterone measurement QTL GWAS1540345 (human)9e-16blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351172863511729Human
597420718GWAS1516792_Halkaline phosphatase measurement QTL GWAS1516792 (human)1e-10blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106350588063505881Human
597238446GWAS1334520_Hplatelet count QTL GWAS1334520 (human)3e-139platelet quantity (VT:0003179)platelet count (CMO:0000029)106329278263292783Human
597102240GWAS1198314_Hneutrophil count QTL GWAS1198314 (human)3e-38neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106338068063380681Human
597028527GWAS1124601_Hself reported educational attainment QTL GWAS1124601 (human)8e-14self reported educational attainment106325640263256403Human
597176994GWAS1273068_Hprotein measurement QTL GWAS1273068 (human)2e-12protein amount (VT:0010120)106328854663288547Human
597609121GWAS1665981_Hthrombocytopenia 4 QTL GWAS1665981 (human)2e-13liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)106326785063267851Human
406989181GWAS638157_Hintelligence QTL GWAS638157 (human)5e-08intelligence106327502463275025Human
597407396GWAS1503470_Hphospholipids in very large HDL measurement QTL GWAS1503470 (human)2e-12blood HDL phospholipid amount (VT:0010504)106351172863511729Human
597258969GWAS1355043_Haortic measurement QTL GWAS1355043 (human)4e-13aortic measurementaorta measurement (CMO:0001474)106326785063267851Human
597197530GWAS1293604_Hserum gamma-glutamyl transferase measurement QTL GWAS1293604 (human)1e-13blood gamma-glutamyltransferase amount (VT:0010607)serum gamma-glutamyltransferase activity level (CMO:0002241)106336172563361726Human
597167837GWAS1263911_Halkaline phosphatase measurement QTL GWAS1263911 (human)2e-27blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106337406263374063Human
597301983GWAS1398057_Hneutrophil count QTL GWAS1398057 (human)5e-37neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106343188563431886Human
597185246GWAS1281320_Hcholesterol to total lipids in large VLDL percentage QTL GWAS1281320 (human)8e-11cholesterol to total lipids in large VLDL percentage 106336433863364339Human
597266142GWAS1362216_Hhigh density lipoprotein cholesterol measurement QTL GWAS1362216 (human)1e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106322917163229172Human
597242579GWAS1338653_Hsex hormone-binding globulin measurement QTL GWAS1338653 (human)3e-23sex hormone-binding globulin measurement106336771663367717Human
597188309GWAS1284383_Hfree cholesterol to total lipids in large LDL percentage QTL GWAS1284383 (human)4e-31blood cholesterol amount (VT:0000180)106340214363402144Human
597253846GWAS1349920_Hplatelet-to-lymphocyte ratio QTL GWAS1349920 (human)4e-117platelet quantity (VT:0003179)106326738363267384Human
597491404GWAS1587478_Htriglyceride measurement QTL GWAS1587478 (human)2e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106350971963509720Human
597183179GWAS1279253_Hpolyunsaturated fatty acids to monounsaturated fatty acids ratio QTL GWAS1279253 (human)5e-21fatty acid amount (VT:0010046)106343188563431886Human
597251781GWAS1347855_Halkaline phosphatase measurement QTL GWAS1347855 (human)9e-15blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106319923163199232Human
597282553GWAS1378627_Hcholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1378627 (human)1e-11blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106343188563431886Human
597023476GWAS1119550_Hbreast carcinoma QTL GWAS1119550 (human)0.0000003mammary gland integrity trait (VT:0010552)106334974263349743Human
597603071GWAS1659931_Hmonocyte count QTL GWAS1659931 (human)1e-14monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)106341939263419393Human
597275377GWAS1371451_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1371451 (human)3e-08behavior trait (VT:0010442)106343188563431886Human
597275376GWAS1371450_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1371450 (human)4e-09behavior trait (VT:0010442)106318892463188925Human
597277424GWAS1373498_Hdiet measurement QTL GWAS1373498 (human)3e-15eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)106322917163229172Human
597206770GWAS1302844_Hliver fibrosis measurement QTL GWAS1302844 (human)2e-13liver fibrosis measurement106326785063267851Human
597018367GWAS1114441_Hhousehold income QTL GWAS1114441 (human)2e-10household income106351732363517324Human
597318385GWAS1414459_Htriglyceride measurement QTL GWAS1414459 (human)1e-52triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106336433863364339Human
597153511GWAS1249585_Hintermediate density lipoprotein measurement QTL GWAS1249585 (human)1e-13blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597578476GWAS1635336_Hprothrombin time measurement QTL GWAS1635336 (human)2e-51blood coagulation trait (VT:0002551)prothrombin time (CMO:0000211)106336433863364339Human
406961461GWAS610437_Hneutrophil count, eosinophil count QTL GWAS610437 (human)5e-23eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)106325091263250913Human
597120739GWAS1216813_HCXCL5 measurement QTL GWAS1216813 (human)2e-34blood protein measurement106326785063267851Human
597151459GWAS1247533_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1247533 (human)1e-08sleep behavior trait (VT:0001501)blood high density lipoprotein cholesterol level (CMO:0000052)106343188563431886Human
597184238GWAS1280312_Htriglycerides in small VLDL measurement QTL GWAS1280312 (human)5e-18triglycerides in small VLDL measurementblood very low density lipoprotein triglyceride level (CMO:0002688)106343188563431886Human
597077729GWAS1173803_Hasthma QTL GWAS1173803 (human)0.0000005asthma106334025663340257Human
597148384GWAS1244458_Hhigh density lipoprotein cholesterol measurement QTL GWAS1244458 (human)5e-23blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106334474063344741Human
597292772GWAS1388846_Halkaline phosphatase measurement QTL GWAS1388846 (human)2e-33blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106337406263374063Human
597174809GWAS1270883_HDickkopf-related protein 4 measurement QTL GWAS1270883 (human)1e-26Dickkopf-related protein 4 measurement106329244563292446Human
597143060GWAS1239134_Heducational attainment QTL GWAS1239134 (human)2e-41educational attainment106343188563431886Human
597040658GWAS1136732_Hlow density lipoprotein cholesterol measurement QTL GWAS1136732 (human)1e-09blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106341256863412569Human
407015881GWAS664857_Hneutrophil count QTL GWAS664857 (human)2e-55neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106325091263250913Human
597207571GWAS1303645_Hliver fibrosis measurement QTL GWAS1303645 (human)0.0000001liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)106328854663288547Human
597182995GWAS1279069_Hcitrate measurement QTL GWAS1279069 (human)4e-13citrate measurement106341256863412569Human
597141019GWAS1237093_Hneuroimaging measurement QTL GWAS1237093 (human)4e-08nervous system morphology trait (VT:0003632)106325086663250867Human
597171735GWAS1267809_Hinositol 1,4,5-trisphosphate receptor-interacting protein-like 1 measurement QTL GWAS1267809 (human)3e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)106326738363267384Human
597188105GWAS1284179_Htotal lipids in VLDL measurement QTL GWAS1284179 (human)3e-10blood lipid amount (VT:0003949)106343188563431886Human
597143044GWAS1239118_Hhigh density lipoprotein cholesterol measurement QTL GWAS1239118 (human)0.000008blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106341493863414939Human
597305868GWAS1401942_Hplatelet count QTL GWAS1401942 (human)2e-228platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597110287GWAS1206361_Hurate measurement QTL GWAS1206361 (human)0.000002urate measurementblood uric acid level (CMO:0000501)106325086663250867Human
597187072GWAS1283146_Hmitochondrial DNA measurement QTL GWAS1283146 (human)8e-24tissue deoxyribonucleic acid amount (VT:0011005)106328854663288547Human
597112332GWAS1208406_Hcognitive function measurement QTL GWAS1208406 (human)2e-08cognitive behavior trait (VT:0010450)106325696163256962Human
597058061GWAS1154135_Hintelligence QTL GWAS1154135 (human)2e-08educational attainment106343188563431886Human
597143052GWAS1239126_Heducational attainment QTL GWAS1239126 (human)3e-09educational attainment106345907263459073Human
597470727GWAS1566801_Htriglyceride measurement QTL GWAS1566801 (human)1e-08triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106351516763515168Human
597279288GWAS1375362_Htestosterone measurement QTL GWAS1375362 (human)5e-122blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106338068063380681Human
597173819GWAS1269893_Htriglycerides to total lipids in very large HDL percentage QTL GWAS1269893 (human)4e-11blood HDL triglyceride amount (VT:0010698)blood high density lipoprotein triglyceride level (CMO:0002686)106343188563431886Human
597175868GWAS1271942_Htriglycerides to total lipids in small LDL percentage QTL GWAS1271942 (human)5e-19blood LDL triglyceride amount (VT:0010699)106317478863174789Human
597188157GWAS1284231_Hcholesteryl esters to total lipids in IDL percentage QTL GWAS1284231 (human)1e-25cholesteryl esters to total lipids in IDL percentage 106317478863174789Human
597279295GWAS1375369_Htestosterone measurement QTL GWAS1375369 (human)3e-113blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106340214363402144Human
597176880GWAS1272954_Hgastrin-releasing peptide measurement QTL GWAS1272954 (human)2e-12gastrin-releasing peptide measurement106334144763341448Human
597591607GWAS1648467_Hthrombocytopenia 4 QTL GWAS1648467 (human)4e-15thrombocytopenia 4106326738363267384Human
597173815GWAS1269889_Hfree cholesterol to total lipids in small LDL percentage QTL GWAS1269889 (human)1e-14blood LDL cholesterol amount (VT:0000181)106343188563431886Human
597276201GWAS1372275_Htestosterone measurement QTL GWAS1372275 (human)2e-08blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106316806363168064Human
596950564GWAS1070083_Hprotein measurement QTL GWAS1070083 (human)4e-13protein measurement106334144763341448Human
597176873GWAS1272947_Hgamma-enolase measurement QTL GWAS1272947 (human)7e-12gamma-enolase measurement106324711063247111Human
597180972GWAS1277046_Hdegree of unsaturation measurement QTL GWAS1277046 (human)2e-24degree of unsaturation measurement 106343188563431886Human
597177901GWAS1273975_Hcholesterol in chylomicrons and extremely large VLDL measurement QTL GWAS1273975 (human)1e-15cholesterol in chylomicrons and extremely large VLDL measurement 106343188563431886Human
597209646GWAS1305720_Hvital capacity QTL GWAS1305720 (human)0.0000001lung capacity (VT:0001942)106332770863327709Human
597188132GWAS1284206_Hcholesterol to total lipids in very large VLDL percentage QTL GWAS1284206 (human)6e-15cholesterol to total lipids in very large VLDL percentage 106334474063344741Human
597174821GWAS1270895_Hprotein measurement QTL GWAS1270895 (human)1e-20protein amount (VT:0010120)106329244563292446Human
597492258GWAS1588332_Hsex hormone-binding globulin measurement QTL GWAS1588332 (human)1e-62sex hormone-binding globulin measurement106351516763515168Human
597167707GWAS1263781_Halkaline phosphatase measurement QTL GWAS1263781 (human)3e-310blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106338932963389330Human
597316179GWAS1412253_Hsex hormone-binding globulin measurement QTL GWAS1412253 (human)8e-15sex hormone-binding globulin measurement106322917163229172Human
597281363GWAS1377437_Hsex hormone-binding globulin measurement QTL GWAS1377437 (human)3e-206sex hormone-binding globulin measurement106338068063380681Human
597281362GWAS1377436_Hsex hormone-binding globulin measurement QTL GWAS1377436 (human)3e-208sex hormone-binding globulin measurement106325091263250913Human
597593682GWAS1650542_Hplatelet count QTL GWAS1650542 (human)5e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)106328854663288547Human
597620302GWAS1677162_Htriglyceride measurement QTL GWAS1677162 (human)4e-47triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597281355GWAS1377429_Htestosterone measurement QTL GWAS1377429 (human)5e-08blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106319582163195822Human
597244491GWAS1340565_Hsex hormone-binding globulin measurement QTL GWAS1340565 (human)7e-15sex hormone-binding globulin measurement106319923163199232Human
597022279GWAS1118353_Hinterleukin 12 measurement QTL GWAS1118353 (human)7e-08blood interleukin-12 amount (VT:0008616)106337339663373397Human
597022278GWAS1118352_Hinterleukin 12 measurement QTL GWAS1118352 (human)6e-10blood interleukin-12 amount (VT:0008616)106326785063267851Human
597326409GWAS1422483_HFEV/FVC ratio QTL GWAS1422483 (human)3e-13lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)106329244563292446Human
597142084GWAS1238158_Heducational attainment QTL GWAS1238158 (human)8e-10educational attainment106331816363318164Human
597142083GWAS1238157_Heducational attainment QTL GWAS1238157 (human)9e-09educational attainment106325991763259918Human
597244493GWAS1340567_Hsex hormone-binding globulin measurement QTL GWAS1340567 (human)2e-15sex hormone-binding globulin measurement106335590463355905Human
597244492GWAS1340566_Hsex hormone-binding globulin measurement QTL GWAS1340566 (human)2e-15sex hormone-binding globulin measurement106320099563200996Human
597185089GWAS1281163_Hcholesteryl esters to total lipids in small VLDL percentage QTL GWAS1281163 (human)2e-16blood lipid amount (VT:0003949)106317478863174789Human
597158477GWAS1254551_Htriglyceride:HDL cholesterol ratio QTL GWAS1254551 (human)7e-33blood triglyceride amount (VT:0002644)106343188563431886Human
597205572GWAS1301646_HFEV/FVC ratio QTL GWAS1301646 (human)0.000001lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)106332770863327709Human
597224007GWAS1320081_Halkaline phosphatase measurement QTL GWAS1320081 (human)1e-300blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106316806363168064Human
406992285GWAS641261_Hintelligence QTL GWAS641261 (human)8e-09intelligence106342921363429214Human
407029154GWAS678130_Hresponse to fenofibrate QTL GWAS678130 (human)0.000002response to fenofibrate106326709863267099Human
597426813GWAS1522887_Hgout QTL GWAS1522887 (human)8e-24joint integrity trait (VT:0010548)106344984963449850Human
597220986GWAS1317060_Hplatelet count QTL GWAS1317060 (human)8e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)106328037963280380Human
597204603GWAS1300677_Hforced expiratory volume QTL GWAS1300677 (human)0.0000005lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)106332770863327709Human
597284478GWAS1380552_Hfree cholesterol in large LDL measurement QTL GWAS1380552 (human)2e-09free cholesterol in large LDL measurement106320165263201653Human
597150332GWAS1246406_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1246406 (human)5e-17blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106341634563416346Human
597173878GWAS1269952_Hdocosahexaenoic acid measurement QTL GWAS1269952 (human)2e-14triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597175914GWAS1271988_Htriglycerides in VLDL measurement QTL GWAS1271988 (human)3e-16blood VLDL triglyceride amount (VT:0010700)106343188563431886Human
597438062GWAS1534136_Hcholelithiasis QTL GWAS1534136 (human)9e-10cholelithiasis106351718563517186Human
597240429GWAS1336503_Htestosterone measurement QTL GWAS1336503 (human)4e-09blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106333295963332960Human
597173868GWAS1269942_Htriglycerides to phosphoglycerides ratio QTL GWAS1269942 (human)7e-21blood triglyceride amount (VT:0002644)106343188563431886Human
597240428GWAS1336502_Htestosterone measurement QTL GWAS1336502 (human)2e-09blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106328610563286106Human
596988514GWAS1108033_Hplatelet count QTL GWAS1108033 (human)3e-28platelet count106351516763515168Human
597086830GWAS1182904_Hlymphocyte count QTL GWAS1182904 (human)3e-09lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)106339150863391512Human
597171811GWAS1267885_Hintelligence QTL GWAS1267885 (human)1e-09intelligence106337339663373397Human
597591650GWAS1648510_Hneutrophil count QTL GWAS1648510 (human)3e-12neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106337591263375913Human
597291622GWAS1387696_Hnutritional supplement exposure measurement QTL GWAS1387696 (human)2e-11nutritional supplement exposure measurement106344889263448893Human
597020053GWAS1116127_Hplatelet count QTL GWAS1116127 (human)6e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597020054GWAS1116128_Hplatelet count QTL GWAS1116128 (human)4e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)106334474063344741Human
597165470GWAS1261544_Hsphingomyelin measurement QTL GWAS1261544 (human)1e-08blood phospholipid amount (VT:0006084)106317478863174789Human
597593497GWAS1650357_Hplatelet count QTL GWAS1650357 (human)4e-61platelet quantity (VT:0003179)platelet count (CMO:0000029)106328854663288547Human
597085598GWAS1181672_Htype 2 diabetes mellitus QTL GWAS1181672 (human)5e-12type 2 diabetes mellitus106321116863211169Human
597244308GWAS1340382_Hsex hormone-binding globulin measurement QTL GWAS1340382 (human)1e-14sex hormone-binding globulin measurement106319307563193076Human
597183894GWAS1279968_Htotal lipids in IDL QTL GWAS1279968 (human)1e-10blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597174657GWAS1270731_Hprotein measurement QTL GWAS1270731 (human)3e-27protein amount (VT:0010120)106326785063267851Human
597196162GWAS1292236_Htriglyceride measurement QTL GWAS1292236 (human)3e-15triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106335061663350617Human
597102989GWAS1199063_Hplatelet crit QTL GWAS1199063 (human)1e-09platelet quantity (VT:0003179)plateletcrit (CMO:0001349)106340214363402144Human
407080537GWAS729513_Hsodium measurement QTL GWAS729513 (human)2e-11blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)106343188563431886Human
597102988GWAS1199062_Hplatelet crit QTL GWAS1199062 (human)1e-21platelet quantity (VT:0003179)plateletcrit (CMO:0001349)106328854663288547Human
597279108GWAS1375182_Hbeta-citrylglutamate measurement QTL GWAS1375182 (human)2e-11beta-citrylglutamate measurement106329278263292783Human
597062027GWAS1158101_Htype 2 diabetes mellitus QTL GWAS1158101 (human)0.000005type 2 diabetes mellitus106334131163341312Human
597175685GWAS1271759_Hphospholipids:total lipids ratio QTL GWAS1271759 (human)5e-11phospholipids:total lipids ratio106343188563431886Human
597119412GWAS1215486_Hcognitive function measurement, self reported educational attainment QTL GWAS1215486 (human)3e-08cognitive behavior trait (VT:0010450)106325696163256962Human
597338558GWAS1434632_Hpuberty onset measurement QTL GWAS1434632 (human)4e-12time of sexual maturation trait (VT:0001938)106326226263262263Human
597162430GWAS1258504_Hdocosahexaenoic acid measurement QTL GWAS1258504 (human)1e-18blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106343188563431886Human
597214642GWAS1310716_HBMI-adjusted waist-hip ratio QTL GWAS1310716 (human)0.000001body size trait (VT:0100005)106316806363168064Human
597607861GWAS1664721_Htriglyceride measurement QTL GWAS1664721 (human)1e-67triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597023161GWAS1119235_Hlow density lipoprotein cholesterol measurement QTL GWAS1119235 (human)4e-08blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106324563963245640Human
597023160GWAS1119234_Hlow density lipoprotein cholesterol measurement QTL GWAS1119234 (human)0.0000001blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106324563963245640Human
597154233GWAS1250307_Htriglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1250307 (human)1e-30enzyme/coenzyme activity trait (VT:0005584)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106341634563416346Human
597023163GWAS1119237_Hlow density lipoprotein cholesterol measurement QTL GWAS1119237 (human)0.0000004blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106344404863444049Human
597023162GWAS1119236_Hlow density lipoprotein cholesterol measurement QTL GWAS1119236 (human)0.0000007blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106344404863444049Human
597156263GWAS1252337_Htriglyceride:HDL cholesterol ratio QTL GWAS1252337 (human)4e-29blood triglyceride amount (VT:0002644)106343188563431886Human
597501357GWAS1597431_Helectrocardiography QTL GWAS1597431 (human)2e-08electrocardiography106351172863511729Human
597501356GWAS1597430_Helectrocardiography QTL GWAS1597430 (human)1e-08electrocardiography106351172863511729Human
597218732GWAS1314806_Hplatelet count QTL GWAS1314806 (human)1e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)106345458963454590Human
597501355GWAS1597429_Helectrocardiography QTL GWAS1597429 (human)3e-08electrocardiography106351172863511729Human
597501354GWAS1597428_Helectrocardiography QTL GWAS1597428 (human)9e-09electrocardiography106351172863511729Human
597457374GWAS1553448_Hglycine measurement QTL GWAS1553448 (human)1e-12blood glycine amount (VT:0010965)blood amino acid measurement (CMO:0003730)106352123463521235Human
597188060GWAS1284134_Htriglycerides to total lipids in medium LDL percentage QTL GWAS1284134 (human)6e-14blood LDL triglyceride amount (VT:0010699)106317478863174789Human
597606874GWAS1663734_Htriglyceride measurement QTL GWAS1663734 (human)6e-87triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597072351GWAS1168425_Hprothrombin time measurement QTL GWAS1168425 (human)4e-12blood coagulation trait (VT:0002551)prothrombin time (CMO:0000211)106319582163195822Human
406942219GWAS591195_Hforced expiratory volume QTL GWAS591195 (human)2e-13lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)106323921163239212Human
597056966GWAS1153040_Hintelligence QTL GWAS1153040 (human)3e-10intelligence106337339663373397Human
597286347GWAS1382421_Hdocosahexaenoic acid measurement QTL GWAS1382421 (human)3e-11fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)106333523063335231Human
597164480GWAS1260554_Htype 2 diabetes mellitus QTL GWAS1260554 (human)7e-12type 2 diabetes mellitus106319035063190351Human
596966861GWAS1086380_Hbody mass index QTL GWAS1086380 (human)9e-12body mass index106343188563431886Human
406900250GWAS549226_HC-reactive protein measurement, high density lipoprotein cholesterol measurement QTL GWAS549226 (human)2e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106326785063267851Human
597316032GWAS1412106_Hbody mass index QTL GWAS1412106 (human)9e-12body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)106343188563431886Human
597170628GWAS1266702_Hchoriogonadotropin subunit beta variant 2 measurement QTL GWAS1266702 (human)3e-12choriogonadotropin subunit beta variant 2 measurement106328854663288547Human
597176773GWAS1272847_Htyrosine measurement QTL GWAS1272847 (human)8e-16blood L-tyrosine amount (VT:0010974)106337406263374063Human
597213638GWAS1309712_Hgallstones QTL GWAS1309712 (human)9e-12gallstones106316806363168064Human
597107144GWAS1203218_Hinflammatory biomarker measurement QTL GWAS1203218 (human)4e-08inflammatory biomarker measurement106328854663288547Human
597122504GWAS1218578_Hmitochondrial DNA measurement QTL GWAS1218578 (human)5e-25tissue deoxyribonucleic acid amount (VT:0011005)106334144763341448Human
597181948GWAS1278022_Hprotein measurement QTL GWAS1278022 (human)3e-13protein amount (VT:0010120)106338765963387660Human
597156351GWAS1252425_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1252425 (human)2e-23blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106340542463405425Human
597120510GWAS1216584_Hplatelet count QTL GWAS1216584 (human)1e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)106334474063344741Human
407029291GWAS678267_Halkaline phosphatase measurement QTL GWAS678267 (human)6e-23blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106337406263374063Human
597169652GWAS1265726_Htype 2 diabetes mellitus QTL GWAS1265726 (human)1e-08type 2 diabetes mellitus106319035063190351Human
407121456GWAS770432_Hsex hormone-binding globulin measurement QTL GWAS770432 (human)1e-25sex hormone-binding globulin measurement106337915063379151Human
407050811GWAS699787_Hjuvenile idiopathic arthritis QTL GWAS699787 (human)0.0000002joint integrity trait (VT:0010548)106324669663246697Human
596954604GWAS1074123_Hnutritional supplement exposure measurement QTL GWAS1074123 (human)2e-11nutritional supplement exposure measurement106344889263448893Human
597187044GWAS1283118_Hcholesteryl esters to total lipids in medium VLDL percentage QTL GWAS1283118 (human)4e-18cholesteryl esters to total lipids in medium VLDL percentage 106317478863174789Human
597170661GWAS1266735_HC-C motif chemokine 28 measurement QTL GWAS1266735 (human)7e-14chemokine amount (VT:0008721)106326785063267851Human
597188892GWAS1284966_Htriglycerides to total lipids in small VLDL percentage QTL GWAS1284966 (human)5e-20blood VLDL triglyceride amount (VT:0010700)106317478863174789Human
597114128GWAS1210202_Hplatelet count QTL GWAS1210202 (human)1e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597077278GWAS1173352_Hintelligence QTL GWAS1173352 (human)6e-13intelligence106339982063399821Human
597184785GWAS1280859_Hcholesteryl ester measurement QTL GWAS1280859 (human)1e-14blood lipid amount (VT:0003949)106317478863174789Human
597166353GWAS1262427_Htyrosine measurement QTL GWAS1262427 (human)2e-18blood L-tyrosine amount (VT:0010974)106338932963389330Human
597221651GWAS1317725_Hplatelet count QTL GWAS1317725 (human)3e-34platelet quantity (VT:0003179)platelet count (CMO:0000029)106328037963280380Human
597593363GWAS1650223_Hplatelet count QTL GWAS1650223 (human)2e-211platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597170453GWAS1266527_Hprotein measurement QTL GWAS1266527 (human)4e-13protein amount (VT:0010120)106334144763341448Human
597165333GWAS1261407_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1261407 (human)3e-26blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106341634563416346Human
597611792GWAS1668652_Hplatelet count QTL GWAS1668652 (human)2e-142platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597077272GWAS1173346_Hintelligence QTL GWAS1173346 (human)3e-15intelligence106330224863302249Human
597270806GWAS1366880_Haortic measurement QTL GWAS1366880 (human)1e-09aortic measurementaorta measurement (CMO:0001474)106329089963290900Human
597077273GWAS1173347_Hintelligence QTL GWAS1173347 (human)5e-12intelligence106342101663421017Human
597087494GWAS1183568_Htype 2 diabetes mellitus QTL GWAS1183568 (human)3e-13type 2 diabetes mellitus106321637363216374Human
597041413GWAS1137487_HCXCL5 measurement QTL GWAS1137487 (human)5e-08chemokine amount (VT:0008721)106337339663373397Human
597583114GWAS1639974_Hmean corpuscular hemoglobin concentration QTL GWAS1639974 (human)1e-11erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)106340542463405425Human
597238017GWAS1334091_Hneutrophil count QTL GWAS1334091 (human)3e-26neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106324563963245640Human
597170438GWAS1266512_HC-C motif chemokine 5 measurement QTL GWAS1266512 (human)1e-26protein amount (VT:0010120)106328854663288547Human
407028450GWAS677426_Hplatelet count QTL GWAS677426 (human)2e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)106334474063344741Human
597099830GWAS1195904_Halkaline phosphatase measurement QTL GWAS1195904 (human)1e-36blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106337406263374063Human
597274941GWAS1371015_Hdocosahexaenoic acid measurement QTL GWAS1371015 (human)4e-19fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)106343188563431886Human
597587256GWAS1644116_Hneutrophil count QTL GWAS1644116 (human)4e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106337591263375913Human
597074225GWAS1170299_Hintelligence, self reported educational attainment QTL GWAS1170299 (human)4e-11smoking cessation106334474063344741Human
597271870GWAS1367944_Htriglyceride measurement QTL GWAS1367944 (human)6e-103triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597182783GWAS1278857_Hpolyunsaturated fatty acids to total fatty acids percentage QTL GWAS1278857 (human)3e-15blood lipid amount (VT:0003949)106343188563431886Human
597114175GWAS1210249_Hplatelet component distribution width QTL GWAS1210249 (human)5e-25platelet size trait (VT:0010457)platelet distribution width (CMO:0001350)106334474063344741Human
407040744GWAS689720_Hself reported educational attainment QTL GWAS689720 (human)0.000001self reported educational attainment106337406263374063Human
597206313GWAS1302387_Hliver fibrosis measurement QTL GWAS1302387 (human)1e-10liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)106326785063267851Human
597206314GWAS1302388_Hliver fibrosis measurement QTL GWAS1302388 (human)2e-10liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)106328854663288547Human
597243179GWAS1339253_Htestosterone measurement QTL GWAS1339253 (human)1e-13blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106340691063406911Human
597155108GWAS1251182_Hlipid measurement, intermediate density lipoprotein measurement QTL GWAS1251182 (human)5e-13lipid amount (VT:0001547)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597610797GWAS1667657_Hneutrophil count QTL GWAS1667657 (human)5e-12neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106337591263375913Human
597137696GWAS1233770_Hglycochenodeoxycholate glucuronide (1) measurement QTL GWAS1233770 (human)0.0000002glycochenodeoxycholate glucuronide (1) measurement106341939263419393Human
407180029GWAS829005_Hplatelet count QTL GWAS829005 (human)3e-351platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597446948GWAS1543022_Htestosterone measurement QTL GWAS1543022 (human)4e-10blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351172863511729Human
597341472GWAS1437546_Himmature platelet measurement QTL GWAS1437546 (human)7e-131immature platelet measurement106330642663306427Human
597610787GWAS1667647_Hneutrophil count QTL GWAS1667647 (human)1e-19neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106338932963389330Human
596964650GWAS1084169_Halkaline phosphatase measurement QTL GWAS1084169 (human)2e-33alkaline phosphatase measurement106337406263374063Human
597602592GWAS1659452_Hmonocyte count QTL GWAS1659452 (human)8e-32monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)106341939263419393Human
597246246GWAS1342320_Hsex hormone-binding globulin measurement QTL GWAS1342320 (human)7e-10sex hormone-binding globulin measurement106318035463180355Human
596964651GWAS1084170_Halkaline phosphatase measurement QTL GWAS1084170 (human)7e-33alkaline phosphatase measurement106351516763515168Human
597170524GWAS1266598_Htyrosine measurement QTL GWAS1266598 (human)2e-13blood L-tyrosine amount (VT:0010974)106319582163195822Human
597172573GWAS1268647_Hconnective tissue-activating peptide III measurement QTL GWAS1268647 (human)1e-12connective tissue development trait (VT:0010065)106328854663288547Human
597180765GWAS1276839_Hmonounsaturated fatty acids; 16:1, 18:1 measurement QTL GWAS1276839 (human)7e-23monounsaturated fatty acids; 16:1, 18:1 measurement106343188563431886Human
597154129GWAS1250203_HAlzheimer disease, educational attainment QTL GWAS1250203 (human)5e-08Alzheimer disease, educational attainment106343188563431886Human
597088606GWAS1184680_Hmean reticulocyte volume QTL GWAS1184680 (human)1e-15reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)106324547663245477Human
597088607GWAS1184681_Hmean reticulocyte volume QTL GWAS1184681 (human)6e-11reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)106317478863174789Human
597446994GWAS1543068_Htestosterone measurement QTL GWAS1543068 (human)4e-15blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351172863511729Human
597185879GWAS1281953_Hfree cholesterol in large LDL measurement QTL GWAS1281953 (human)5e-10free cholesterol in large LDL measurement106317478863174789Human
597185871GWAS1281945_Hfree cholesterol in IDL measurement QTL GWAS1281945 (human)1e-12free cholesterol in IDL measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)106317478863174789Human
597268801GWAS1364875_Hdiastolic blood pressure QTL GWAS1364875 (human)1e-13arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)106324563963245640Human
597283136GWAS1379210_Hesterified cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1379210 (human)1e-09blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106320165263201653Human
597018956GWAS1115030_Hbasophil percentage of leukocytes QTL GWAS1115030 (human)3e-17basophil quantity (VT:0002607)blood basophil count to total leukocyte count ratio (CMO:0000368)106351726663517267Human
597095796GWAS1191870_Hsex hormone-binding globulin measurement QTL GWAS1191870 (human)0.000001sex hormone-binding globulin measurement106333763963337640Human
597155186GWAS1251260_Hcholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1251260 (human)5e-35blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106341634563416346Human
597170547GWAS1266621_Hprotein measurement QTL GWAS1266621 (human)8e-18protein amount (VT:0010120)106334144763341448Human
597053818GWAS1149892_Halkaline phosphatase measurement QTL GWAS1149892 (human)2e-29blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106316806363168064Human
597326197GWAS1422271_Hcomplement factor H-related protein 5 measurement QTL GWAS1422271 (human)5e-12complement factor H-related protein 5 measurement106322917163229172Human
407007921GWAS656897_Hneutrophil count QTL GWAS656897 (human)3e-56neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)106325091263250913Human
597337449GWAS1433523_Htriglyceride measurement QTL GWAS1433523 (human)2e-08triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106338932963389330Human
597249389GWAS1345463_Htriglyceride:HDL cholesterol ratio QTL GWAS1345463 (human)3e-35blood triglyceride amount (VT:0002644)106343188563431886Human
597172576GWAS1268650_Hchymotrypsin-C measurement QTL GWAS1268650 (human)7e-13chymotrypsin-C measurement106330224863302249Human
597177699GWAS1273773_Htriglycerides in very large VLDL measurement QTL GWAS1273773 (human)5e-16lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)106343188563431886Human
597074282GWAS1170356_Hintelligence QTL GWAS1170356 (human)0.0000008intelligence106334474063344741Human
597186919GWAS1282993_Htriglycerides to total lipids in medium VLDL percentage QTL GWAS1282993 (human)3e-18triglycerides to total lipids in medium VLDL percentage 106317478863174789Human
597265766GWAS1361840_Htriglyceride measurement QTL GWAS1361840 (human)2e-64triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597180775GWAS1276849_Hfree cholesterol in chylomicrons and extremely large VLDL measurement QTL GWAS1276849 (human)9e-17blood lipid amount (VT:0003949)106343188563431886Human
597346459GWAS1442533_Hforced expiratory volume QTL GWAS1442533 (human)2e-24lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)106327334863273349Human
597593244GWAS1650104_Hplatelet count QTL GWAS1650104 (human)5e-14liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)106328854663288547Human
597040276GWAS1136350_Hapolipoprotein A 1 measurement QTL GWAS1136350 (human)2e-14apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)106334474063344741Human
597095572GWAS1191646_Hsex hormone-binding globulin measurement QTL GWAS1191646 (human)1e-827sex hormone-binding globulin measurement106336433863364339Human
597182620GWAS1278694_Hprotein measurement QTL GWAS1278694 (human)9e-31protein amount (VT:0010120)106326785063267851Human
597279902GWAS1375976_Hhigh density lipoprotein cholesterol measurement QTL GWAS1375976 (human)1e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106334474063344741Human
597045406GWAS1141480_Hhigh density lipoprotein cholesterol measurement QTL GWAS1141480 (human)2e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106322917163229172Human
597578902GWAS1635762_Hprothrombin time measurement QTL GWAS1635762 (human)1e-34blood coagulation trait (VT:0002551)prothrombin time (CMO:0000211)106344404863444049Human
597146782GWAS1242856_Htriglyceride measurement QTL GWAS1242856 (human)9e-37triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106344404863444049Human
597112989GWAS1209063_Hplatelet count QTL GWAS1209063 (human)8e-36platelet quantity (VT:0003179)platelet count (CMO:0000029)106345306663453067Human
597112988GWAS1209062_Hplatelet count QTL GWAS1209062 (human)1e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)106340214363402144Human
597112987GWAS1209061_Hplatelet count QTL GWAS1209061 (human)7e-103platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597183637GWAS1279711_Hphospholipids:total lipids ratio QTL GWAS1279711 (human)9e-14phospholipids:total lipids ratio106317478863174789Human
597617811GWAS1674671_Hprothrombin time measurement QTL GWAS1674671 (human)1e-15blood coagulation trait (VT:0002551)prothrombin time (CMO:0000211)106338932963389330Human
597191830GWAS1287904_Hsex hormone-binding globulin measurement QTL GWAS1287904 (human)1e-611sex hormone-binding globulin measurement106338068063380681Human
597278870GWAS1374944_Hsex hormone-binding globulin measurement QTL GWAS1374944 (human)6e-12sex hormone-binding globulin measurement106338932963389330Human
406963026GWAS612002_Hgranulocyte count QTL GWAS612002 (human)5e-22granulocyte quantity (VT:0000334)blood granulocyte count (CMO:0000111)106325091263250913Human
597169294GWAS1265368_Hplatelet count QTL GWAS1265368 (human)3e-31platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597329037GWAS1425111_Hmigraine disorder, glucose measurement QTL GWAS1425111 (human)1e-08blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)106330642663306427Human
597163149GWAS1259223_Hatrial fibrillation QTL GWAS1259223 (human)5e-10atrial fibrillation106322917163229172Human
597348481GWAS1444555_Hbody mass index QTL GWAS1444555 (human)5e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)106343188563431886Human
597179523GWAS1275597_Hcholesteryl ester measurement QTL GWAS1275597 (human)4e-14blood lipid amount (VT:0003949)106343188563431886Human
597180547GWAS1276621_Hdocosahexaenoic acid to total fatty acids percentage QTL GWAS1276621 (human)4e-22fatty acid amount (VT:0010046)106343188563431886Human
597215416GWAS1311490_Hprotein measurement QTL GWAS1311490 (human)3e-41protein amount (VT:0010120)106330642663306427Human
597271739GWAS1367813_Hlow density lipoprotein cholesterol measurement QTL GWAS1367813 (human)2e-18blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106336885963368860Human
596957360GWAS1076879_Hmean platelet volume QTL GWAS1076879 (human)2e-13mean platelet volume106328854663288547Human
597184703GWAS1280777_Hphospholipids:total lipids ratio QTL GWAS1280777 (human)1e-16eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)106317478863174789Human
597172415GWAS1268489_Hprotein measurement QTL GWAS1268489 (human)4e-15protein amount (VT:0010120)106329244563292446Human
597164223GWAS1260297_Hbilirubin measurement QTL GWAS1260297 (human)5e-14bilirubin measurement106341939263419393Human
597184695GWAS1280769_Htriglycerides to total lipids in very large VLDL percentage QTL GWAS1280769 (human)9e-14blood VLDL triglyceride amount (VT:0010700)106334474063344741Human
406972273GWAS621249_Hreticulocyte count QTL GWAS621249 (human)4e-16reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)106321439663214397Human
407080819GWAS729795_Hmetabolic syndrome QTL GWAS729795 (human)2e-14metabolic syndrome106331145563311456Human
597120165GWAS1216239_Hplatelet count QTL GWAS1216239 (human)6e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)106334474063344741Human
597513385GWAS1609459_Htestosterone measurement QTL GWAS1609459 (human)2e-17blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351172863511729Human
597182638GWAS1278712_Hprotein measurement QTL GWAS1278712 (human)3e-13protein amount (VT:0010120)106328854663288547Human
597186735GWAS1282809_Hcholesteryl esters to total lipids in large VLDL percentage QTL GWAS1282809 (human)5e-13cholesteryl esters to total lipids in large VLDL percentage 106336433863364339Human
597215393GWAS1311467_Hprotein measurement QTL GWAS1311467 (human)6e-24protein amount (VT:0010120)106330642663306427Human
597222562GWAS1318636_Hplatelet count QTL GWAS1318636 (human)7e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)106335566763355668Human
597071021GWAS1167095_Hbilirubin measurement QTL GWAS1167095 (human)3e-11blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)106340542463405425Human
597342374GWAS1438448_Hbody mass index QTL GWAS1438448 (human)5e-11body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)106317478863174789Human
597280933GWAS1377007_Hsex hormone-binding globulin measurement QTL GWAS1377007 (human)3e-67sex hormone-binding globulin measurement106320368963203690Human
597250215GWAS1346289_Halkaline phosphatase measurement QTL GWAS1346289 (human)1e-30blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106340691063406911Human
597313700GWAS1409774_Hbilirubin measurement QTL GWAS1409774 (human)8e-63blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)106341256863412569Human
597593249GWAS1650109_Hplatelet count QTL GWAS1650109 (human)4e-50platelet quantity (VT:0003179)platelet count (CMO:0000029)106328854663288547Human
596954283GWAS1073802_Hfree cholesterol to total lipids in medium LDL percentage QTL GWAS1073802 (human)1e-18cholesterol:total lipids ratio, intermediate density lipoprotein measurement106343188563431886Human
597177563GWAS1273637_Hfetuin-B measurement QTL GWAS1273637 (human)1e-19fetuin-B measurement106341493863414939Human
597057749GWAS1153823_Hinsulin measurement QTL GWAS1153823 (human)4e-10blood insulin amount (VT:0001560)pancreatic islet insulin release measurement (CMO:0001216)106343188563431886Human
597181660GWAS1277734_Hmonounsaturated fatty acids; 16:1, 18:1 measurement QTL GWAS1277734 (human)8e-10monounsaturated fatty acids; 16:1, 18:1 measurement106343188563431886Human
597523672GWAS1619746_Hfree cholesterol to total lipids in medium VLDL percentage QTL GWAS1619746 (human)9e-17blood VLDL cholesterol amount (VT:0005144)106351726663517267Human
407075589GWAS724565_Htriglyceride measurement QTL GWAS724565 (human)7e-13triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106326785063267851Human
597187796GWAS1283870_Hcholesterol to total lipids in IDL percentage QTL GWAS1283870 (human)5e-27cholesterol to total lipids in IDL percentage 106317478863174789Human
597172439GWAS1268513_HC-X-C motif chemokine 5 measurement QTL GWAS1268513 (human)9e-43C-X-C motif chemokine 5 measurement106326785063267851Human
597148871GWAS1244945_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1244945 (human)6e-43blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106340214363402144Human
597188810GWAS1284884_Hmitochondrial DNA measurement QTL GWAS1284884 (human)3e-46tissue deoxyribonucleic acid amount (VT:0011005)106328854663288547Human
597188811GWAS1284885_Hmitochondrial DNA measurement QTL GWAS1284885 (human)3e-09tissue deoxyribonucleic acid amount (VT:0011005)106340691063406911Human
597272781GWAS1368855_Htype 2 diabetes mellitus QTL GWAS1368855 (human)6e-11type 2 diabetes mellitus106321462063214621Human
597036227GWAS1132301_Htriglyceride measurement QTL GWAS1132301 (human)2e-57triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106336433863364339Human
597171407GWAS1267481_Hprotein measurement QTL GWAS1267481 (human)1e-21protein amount (VT:0010120)106334144763341448Human
597140687GWAS1236761_Hbilirubin measurement QTL GWAS1236761 (human)5e-17blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)106341939263419393Human
597426374GWAS1522448_Hgout QTL GWAS1522448 (human)6e-18joint integrity trait (VT:0010548)106338765963387660Human
597244098GWAS1340172_Hsex hormone-binding globulin measurement QTL GWAS1340172 (human)9e-13sex hormone-binding globulin measurement106321439663214397Human
597177539GWAS1273613_Ht-cell receptor-associated transmembrane adapter 1 measurement QTL GWAS1273613 (human)5e-12blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106328854663288547Human
597045450GWAS1141524_Htriglyceride measurement QTL GWAS1141524 (human)2e-30triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106322917163229172Human
406977310GWAS626286_Hplatelet component distribution width QTL GWAS626286 (human)3e-51platelet size trait (VT:0010457)platelet distribution width (CMO:0001350)106334144763341448Human
597291259GWAS1387333_Hplatelet count QTL GWAS1387333 (human)3e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)106317660163176602Human
597058802GWAS1154876_HFEV/FVC ratio QTL GWAS1154876 (human)6e-16lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)106334474063344741Human
597150962GWAS1247036_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1247036 (human)6e-09blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106317478863174789Human
597096689GWAS1192763_Hsex hormone-binding globulin measurement QTL GWAS1192763 (human)4e-955sex hormone-binding globulin measurement106336433863364339Human
597310706GWAS1406780_Herythrocyte count QTL GWAS1406780 (human)1e-08erythrocyte countred blood cell count (CMO:0000025)106344404863444049Human
596951289GWAS1070808_Hprotein measurement QTL GWAS1070808 (human)1e-26protein measurement106328854663288547Human
597185782GWAS1281856_Htriglycerides to total lipids in very small VLDL percentage QTL GWAS1281856 (human)8e-27blood VLDL triglyceride amount (VT:0010700)106316806363168064Human
597138681GWAS1234755_HC-X-C motif chemokine 5 measurement QTL GWAS1234755 (human)3e-49C-X-C motif chemokine 5 measurement106331823463318235Human
597450995GWAS1547069_Hplatelet count QTL GWAS1547069 (human)3e-28platelet quantity (VT:0003179)platelet count (CMO:0000029)106351516763515168Human
597619951GWAS1676811_Htriglyceride measurement QTL GWAS1676811 (human)1e-38triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106343188563431886Human
597270765GWAS1366839_Htype 2 diabetes mellitus QTL GWAS1366839 (human)5e-10type 2 diabetes mellitus106321462063214621Human
597113059GWAS1209133_Hplatelet count QTL GWAS1209133 (human)1e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)106334474063344741Human
597109987GWAS1206061_Hself reported educational attainment QTL GWAS1206061 (human)3e-21self reported educational attainment106343188563431886Human
597240047GWAS1336121_Htestosterone measurement QTL GWAS1336121 (human)6e-11blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106326300663263007Human
597291246GWAS1387320_Hplatelet count QTL GWAS1387320 (human)5e-32platelet quantity (VT:0003179)platelet count (CMO:0000029)106331823463318235Human
597277921GWAS1373995_Hspermidine measurement QTL GWAS1373995 (human)1e-12spermidine measurement106329278263292783Human
597155055GWAS1251129_Hphospholipids:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1251129 (human)5e-16blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)106338010563380107Human
597072111GWAS1168185_Htriglyceride measurement QTL GWAS1168185 (human)1e-10triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106322917163229172Human
597190882GWAS1286956_Hsex hormone-binding globulin measurement QTL GWAS1286956 (human)5e-223sex hormone-binding globulin measurement106317383263173833Human
597188834GWAS1284908_Hcholesterol to total lipids in small VLDL percentage QTL GWAS1284908 (human)1e-19cholesterol to total lipids in small VLDL percentage 106317478863174789Human
407121722GWAS770698_Hsex hormone-binding globulin measurement QTL GWAS770698 (human)6e-35sex hormone-binding globulin measurement106337915063379151Human
597349403GWAS1445477_HAbdominal Aortic Aneurysm QTL GWAS1445477 (human)1e-08aorta integrity trait (VT:0010602)106326738363267384Human
596952081GWAS1071600_Heducational attainment QTL GWAS1071600 (human)2e-08intelligence106343188563431886Human
597112863GWAS1208937_Hplatelet count QTL GWAS1208937 (human)2e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)106320368963203690Human
406954955GWAS603931_Hself reported educational attainment QTL GWAS603931 (human)7e-09self reported educational attainment106330642663306427Human
597617684GWAS1674544_Hprothrombin time measurement QTL GWAS1674544 (human)5e-14blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)106341939263419393Human
597181460GWAS1277534_Hcholesterol in large VLDL measurement QTL GWAS1277534 (human)1e-09cholesterol in large VLDL measurement 106343188563431886Human
597173260GWAS1269334_Hgallstones QTL GWAS1269334 (human)3e-19gallstones106338068063380681Human
596985858GWAS1105377_Hplatelet count QTL GWAS1105377 (human)3e-14platelet count106317660163176602Human
596950029GWAS1069548_Hprotein measurement QTL GWAS1069548 (human)2e-12protein measurement106328854663288547Human
407077848GWAS726824_Hcholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS726824 (human)1e-18docosahexaenoic acid measurement106343188563431886Human
597087240GWAS1183314_Hplatelet count QTL GWAS1183314 (human)1e-29platelet quantity (VT:0003179)platelet count (CMO:0000029)106341939263419393Human
597184571GWAS1280645_Hfree cholesterol to total lipids in small VLDL percentage QTL GWAS1280645 (human)2e-19blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106317478863174789Human
597253169GWAS1349243_Halkaline phosphatase measurement QTL GWAS1349243 (human)2e-17blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106328610563286106Human
597253168GWAS1349242_Halkaline phosphatase measurement QTL GWAS1349242 (human)2e-17blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106326300663263007Human
597138489GWAS1234563_HC-X-C motif chemokine 11 measurement QTL GWAS1234563 (human)2e-10C-X-C motif chemokine 11 measurement106318892463188925Human
407156725GWAS805701_Hplatelet count QTL GWAS805701 (human)2e-24platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
596989988GWAS1109507_Hplatelet count QTL GWAS1109507 (human)5e-32platelet count106331823463318235Human
597097508GWAS1193582_Hsex hormone-binding globulin measurement QTL GWAS1193582 (human)2e-08sex hormone-binding globulin measurement106333763963337640Human
597051427GWAS1147501_Htriglyceride measurement, physical activity QTL GWAS1147501 (human)3e-23triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106337501863375019Human
597054499GWAS1150573_Hhousehold income QTL GWAS1150573 (human)1e-12blood HDL triglyceride amount (VT:0010698)106343188563431886Human
597284898GWAS1380972_Htotal cholesterol in IDL QTL GWAS1380972 (human)4e-10total cholesterol in IDL106320165263201653Human
597162024GWAS1258098_Hplatelet count QTL GWAS1258098 (human)2e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)106330224863302249Human
597246043GWAS1342117_Hsex hormone-binding globulin measurement QTL GWAS1342117 (human)2e-09sex hormone-binding globulin measurement106323828963238290Human
597346392GWAS1442466_Himmature platelet count QTL GWAS1442466 (human)2e-118immature platelet count106330642663306427Human
597187674GWAS1283748_Hcholesteryl esters to total lipids in large LDL percentage QTL GWAS1283748 (human)3e-11cholesteryl esters to total lipids in large LDL percentage 106338765963387660Human
597247069GWAS1343143_Halkaline phosphatase measurement QTL GWAS1343143 (human)3e-22blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)106320099563200996Human
597094483GWAS1190557_Htriglyceride measurement QTL GWAS1190557 (human)7e-11triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106317478863174789Human
597176413GWAS1272487_Hprotein measurement QTL GWAS1272487 (human)4e-16protein amount (VT:0010120)106328854663288547Human
597175389GWAS1271463_Homega-3 polyunsaturated fatty acid measurement QTL GWAS1271463 (human)4e-16fatty acid amount (VT:0010046)106343188563431886Human
597589078GWAS1645938_Hmonocyte count QTL GWAS1645938 (human)1e-17monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)106336433863364339Human
597143643GWAS1239717_Htriglyceride measurement QTL GWAS1239717 (human)7e-28triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)106334057463340575Human
597423188GWAS1519262_Htestosterone measurement QTL GWAS1519262 (human)6e-17blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)106351545463515455Human
597616714GWAS1673574_Hplatelet count QTL GWAS1673574 (human)3e-178platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597185613GWAS1281687_Htriglycerides to total lipids in IDL percentage QTL GWAS1281687 (human)6e-23blood triglyceride amount (VT:0002644)106317478863174789Human
597121090GWAS1217164_Hforced expiratory volume QTL GWAS1217164 (human)2e-08lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)106341939863419399Human
597434439GWAS1530513_Hinterferon gamma measurement QTL GWAS1530513 (human)0.000008blood interferon-gamma amount (VT:0008551)mononuclear cell interferon gamma expression (CMO:0003222)106351172863511729Human
597609539GWAS1666399_Htesticular disease QTL GWAS1666399 (human)5e-20testicular disease106325091263250913Human
597256317GWAS1352391_Hatrial fibrillation QTL GWAS1352391 (human)1e-11atrial fibrillation106332096763320968Human
597115007GWAS1211081_Hcognitive function measurement QTL GWAS1211081 (human)3e-11cognitive behavior trait (VT:0010450)106341481763414818Human
597115006GWAS1211080_Hcognitive function measurement QTL GWAS1211080 (human)2e-11cognitive behavior trait (VT:0010450)106325696163256962Human
597165169GWAS1261243_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1261243 (human)9e-19blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)106341634563416346Human
407078829GWAS727805_HBMI-adjusted waist-hip ratio QTL GWAS727805 (human)3e-08body size trait (VT:0100005)106325299063252991Human
597132388GWAS1228462_Hplatelet count QTL GWAS1228462 (human)8e-22platelet quantity (VT:0003179)platelet count (CMO:0000029)106326785063267851Human
597150820GWAS1246894_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1246894 (human)1e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)106343188563431886Human
597416047GWAS1512121_Hplatelet aggregation QTL GWAS1512121 (human)0.000003platelet aggregation106351516763515168Human
597171310GWAS1267384_HWAP four-disulfide core domain protein 13 measurement QTL GWAS1267384 (human)5e-14C-X-C motif chemokine 11 measurement106328854663288547Human
597416045GWAS1512119_Hplatelet aggregation QTL GWAS1512119 (human)0.000002platelet aggregation106351516763515168Human
597198947GWAS1295021_Hbilirubin measurement QTL GWAS1295021 (human)1e-20blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)106328108563281086Human
407024572GWAS673548_Hplatelet count QTL GWAS673548 (human)0.0000007platelet quantity (VT:0003179)platelet count (CMO:0000029)106320368963203690Human

Markers in Region
D10S561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371065,065,180 - 65,066,748UniSTSGRCh37
GRCh371065,065,277 - 65,065,471UniSTSGRCh37
GRCh371065,065,180 - 65,065,474UniSTSGRCh37
GRCh371065,065,242 - 65,065,471UniSTSGRCh37
Build 361064,735,186 - 64,735,480RGDNCBI36
Celera1058,332,702 - 58,334,270UniSTS
Celera1058,332,799 - 58,332,993UniSTS
Celera1058,332,764 - 58,332,993UniSTS
Celera1058,332,702 - 58,332,996RGD
HuRef1059,056,864 - 59,057,068UniSTS
HuRef1059,056,761 - 59,058,345UniSTS
HuRef1059,056,761 - 59,057,071UniSTS
HuRef1059,056,833 - 59,057,068UniSTS
Marshfield Genetic Map1080.77RGD
Genethon Genetic Map1083.3UniSTS
TNG Radiation Hybrid Map1028160.0UniSTS
Stanford-G3 RH Map102840.0UniSTS
GeneMap99-GB4 RH Map10359.15UniSTS
Whitehead-RH Map10432.8UniSTS
GeneMap99-G3 RH Map102816.0UniSTS
RH46053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371065,070,577 - 65,070,703UniSTSGRCh37
Build 361064,740,583 - 64,740,709RGDNCBI36
Celera1058,338,097 - 58,338,223RGD
Cytogenetic Map10q21.3UniSTS
HuRef1059,062,174 - 59,062,300UniSTS
GeneMap99-GB4 RH Map10361.76UniSTS
NCBI RH Map10751.8UniSTS
WI-22650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371065,059,241 - 65,059,415UniSTSGRCh37
Build 361064,729,247 - 64,729,421RGDNCBI36
Celera1058,326,762 - 58,326,936RGD
Cytogenetic Map10q21.3UniSTS
HuRef1059,050,867 - 59,051,041UniSTS
GeneMap99-GB4 RH Map10361.76UniSTS
Whitehead-RH Map10432.8UniSTS
NCBI RH Map10751.8UniSTS
SHGC-36251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371065,209,316 - 65,209,460UniSTSGRCh37
Build 361064,879,322 - 64,879,466RGDNCBI36
Celera1058,476,831 - 58,476,975RGD
Cytogenetic Map10q21.3UniSTS
HuRef1059,200,943 - 59,201,087UniSTS
Stanford-G3 RH Map102823.0UniSTS
GeneMap99-G3 RH Map102799.0UniSTS
RH80661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,982,639 - 64,982,840UniSTSGRCh37
Build 361064,652,645 - 64,652,846RGDNCBI36
Celera1058,250,159 - 58,250,360RGD
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef1058,974,256 - 58,974,457UniSTS
GeneMap99-GB4 RH Map10355.9UniSTS
D20S1080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,927,326 - 64,927,400UniSTSGRCh37
Build 361064,597,332 - 64,597,406RGDNCBI36
Celera1058,194,642 - 58,194,716RGD
Cytogenetic Map10q21.3UniSTS
HuRef1058,918,967 - 58,919,041UniSTS
SHGC-130658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,927,696 - 64,927,853UniSTSGRCh37
Build 361064,597,702 - 64,597,859RGDNCBI36
Celera1058,195,012 - 58,195,169RGD
Cytogenetic Map10q21.3UniSTS
HuRef1058,919,337 - 58,919,494UniSTS
TNG Radiation Hybrid Map1028215.0UniSTS
RH47880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,927,690 - 64,927,855UniSTSGRCh37
Build 361064,597,696 - 64,597,861RGDNCBI36
Celera1058,195,006 - 58,195,171RGD
Cytogenetic Map10q21.3UniSTS
HuRef1058,919,331 - 58,919,496UniSTS
GeneMap99-GB4 RH Map10356.83UniSTS
A005Q22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,936,648 - 64,936,781UniSTSGRCh37
Build 361064,606,654 - 64,606,787RGDNCBI36
Celera1058,203,961 - 58,204,094RGD
Cytogenetic Map10q21.3UniSTS
HuRef1058,928,286 - 58,928,419UniSTS
GeneMap99-GB4 RH Map10362.54UniSTS
STS-N24840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371065,083,852 - 65,084,061UniSTSGRCh37
Build 361064,753,858 - 64,754,067RGDNCBI36
Celera1058,351,371 - 58,351,580RGD
Cytogenetic Map10q21.3UniSTS
HuRef1059,075,449 - 59,075,658UniSTS
GeneMap99-GB4 RH Map10362.85UniSTS
D10S1572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,936,582 - 64,936,875UniSTSGRCh37
Build 361064,606,588 - 64,606,881RGDNCBI36
Celera1058,203,895 - 58,204,188RGD
Cytogenetic Map10q21.3UniSTS
HuRef1058,928,220 - 58,928,513UniSTS
GeneMap99-GB4 RH Map10362.47UniSTS
Whitehead-RH Map10432.8UniSTS
Whitehead-YAC Contig Map10 UniSTS
STS-AA011025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,968,096 - 64,968,331UniSTSGRCh37
Build 361064,638,102 - 64,638,337RGDNCBI36
Celera1058,235,768 - 58,236,003RGD
Cytogenetic Map10q21.3UniSTS
HuRef1058,959,724 - 58,959,959UniSTS
GeneMap99-GB4 RH Map10361.96UniSTS
NCBI RH Map10778.3UniSTS
RH44815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371065,009,950 - 65,010,052UniSTSGRCh37
Build 361064,679,956 - 64,680,058RGDNCBI36
Celera1058,277,479 - 58,277,581RGD
Cytogenetic Map10q21.3UniSTS
HuRef1059,001,579 - 59,001,681UniSTS
GeneMap99-GB4 RH Map10354.43UniSTS
NCBI RH Map10751.8UniSTS
G32269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371064,936,648 - 64,936,781UniSTSGRCh37
Celera1058,203,961 - 58,204,094UniSTS
Cytogenetic Map10q21.3UniSTS
HuRef1058,928,286 - 58,928,419UniSTS
D10S561  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q21.3UniSTS
Marshfield Genetic Map1080.77UniSTS
Genethon Genetic Map1083.3UniSTS
Whitehead-RH Map10432.8UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2250 4971 1726 2351 5 623 1951 465 2269 7299 6467 53 3733 1 851 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL607128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU185724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF243713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB854120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR762886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF068222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000327520   ⟹   ENSP00000335929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,176,800 - 63,207,725 (-)Ensembl
Ensembl Acc Id: ENST00000399262   ⟹   ENSP00000382204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,167,225 - 63,465,977 (-)Ensembl
Ensembl Acc Id: ENST00000402544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,167,348 - 63,269,187 (-)Ensembl
Ensembl Acc Id: ENST00000467356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,167,221 - 63,176,555 (-)Ensembl
Ensembl Acc Id: ENST00000469152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,215,424 - 63,268,875 (-)Ensembl
Ensembl Acc Id: ENST00000483298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,193,110 - 63,194,694 (-)Ensembl
Ensembl Acc Id: ENST00000489372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,215,438 - 63,269,253 (-)Ensembl
Ensembl Acc Id: ENST00000490669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,192,939 - 63,193,649 (-)Ensembl
Ensembl Acc Id: ENST00000497922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,189,287 - 63,193,337 (-)Ensembl
Ensembl Acc Id: ENST00000542921   ⟹   ENSP00000444682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,167,590 - 63,269,066 (-)Ensembl
Ensembl Acc Id: ENST00000633035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,219,877 - 63,521,850 (-)Ensembl
Ensembl Acc Id: ENST00000639129   ⟹   ENSP00000491195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1063,167,221 - 63,217,711 (-)Ensembl
RefSeq Acc Id: NM_001282948   ⟹   NP_001269877
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,269,243 (-)NCBI
HuRef1058,918,622 - 59,217,387 (-)NCBI
CHM1_11065,209,032 - 65,311,036 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,127,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318153   ⟹   NP_001305082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,269,243 (-)NCBI
CHM1_11065,209,032 - 65,311,036 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,127,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318154   ⟹   NP_001305083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,521,890 (-)NCBI
CHM1_11065,209,032 - 65,563,851 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,380,031 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322252   ⟹   NP_001309181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,465,977 (-)NCBI
CHM1_11065,209,032 - 65,507,763 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,324,116 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322254   ⟹   NP_001309183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,269,243 (-)NCBI
CHM1_11065,209,032 - 65,311,036 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,127,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322258   ⟹   NP_001309187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,521,890 (-)NCBI
CHM1_11065,209,032 - 65,563,851 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,380,031 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032776   ⟹   NP_116165
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,465,977 (-)NCBI
GRCh371064,926,983 - 65,225,880 (-)NCBI
Build 361064,596,991 - 64,895,728 (-)NCBI Archive
Celera1058,194,301 - 58,493,237 (-)RGD
HuRef1058,918,622 - 59,217,387 (-)NCBI
CHM1_11065,209,032 - 65,507,763 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,324,116 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134512
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,269,243 (-)NCBI
CHM1_11065,209,032 - 65,311,036 (-)NCBI
T2T-CHM13v2.01064,025,342 - 64,127,363 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539508   ⟹   XP_011537810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,202,835 - 63,521,890 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015897   ⟹   XP_016871386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,521,890 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015898   ⟹   XP_016871387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,419,829 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424772   ⟹   XP_047280728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,521,890 (-)NCBI
RefSeq Acc Id: XM_047424773   ⟹   XP_047280729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,521,890 (-)NCBI
RefSeq Acc Id: XM_047424774   ⟹   XP_047280730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,167,225 - 63,458,712 (-)NCBI
RefSeq Acc Id: XM_047424775   ⟹   XP_047280731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,191,074 - 63,521,890 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001269877 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309183 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309187 (Get FASTA)   NCBI Sequence Viewer  
  NP_116165 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537810 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871386 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871387 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280728 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280729 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280730 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280731 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC41741 (Get FASTA)   NCBI Sequence Viewer  
  AAH26268 (Get FASTA)   NCBI Sequence Viewer  
  AAI43723 (Get FASTA)   NCBI Sequence Viewer  
  ABK64187 (Get FASTA)   NCBI Sequence Viewer  
  BAA92618 (Get FASTA)   NCBI Sequence Viewer  
  CAD38578 (Get FASTA)   NCBI Sequence Viewer  
  CAD97921 (Get FASTA)   NCBI Sequence Viewer  
  CBX47531 (Get FASTA)   NCBI Sequence Viewer  
  CBX47532 (Get FASTA)   NCBI Sequence Viewer  
  EAW54242 (Get FASTA)   NCBI Sequence Viewer  
  EAW54243 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382204
  ENSP00000382204.2
  ENSP00000444682
  ENSP00000444682.1
GenBank Protein Q15652 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_116165   ⟸   NM_032776
- Peptide Label: isoform a
- UniProtKB: Q9P2G7 (UniProtKB/Swiss-Prot),   Q96KB9 (UniProtKB/Swiss-Prot),   Q8N3U0 (UniProtKB/Swiss-Prot),   Q7Z3E7 (UniProtKB/Swiss-Prot),   Q5SR00 (UniProtKB/Swiss-Prot),   A0T124 (UniProtKB/Swiss-Prot),   Q5SQZ9 (UniProtKB/Swiss-Prot),   Q5SQZ8 (UniProtKB/Swiss-Prot),   Q15652 (UniProtKB/Swiss-Prot),   B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269877   ⟸   NM_001282948
- Peptide Label: isoform c
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537810   ⟸   XM_011539508
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001309187   ⟸   NM_001322258
- Peptide Label: isoform f
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305083   ⟸   NM_001318154
- Peptide Label: isoform c
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309181   ⟸   NM_001322252
- Peptide Label: isoform e
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309183   ⟸   NM_001322254
- Peptide Label: isoform f
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305082   ⟸   NM_001318153
- Peptide Label: isoform d
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871386   ⟸   XM_017015897
- Peptide Label: isoform X1
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871387   ⟸   XM_017015898
- Peptide Label: isoform X1
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000444682   ⟸   ENST00000542921
Ensembl Acc Id: ENSP00000382204   ⟸   ENST00000399262
Ensembl Acc Id: ENSP00000491195   ⟸   ENST00000639129
Ensembl Acc Id: ENSP00000335929   ⟸   ENST00000327520
RefSeq Acc Id: XP_047280729   ⟸   XM_047424773
- Peptide Label: isoform X1
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280728   ⟸   XM_047424772
- Peptide Label: isoform X1
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280730   ⟸   XM_047424774
- Peptide Label: isoform X2
- UniProtKB: B7ZLC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280731   ⟸   XM_047424775
- Peptide Label: isoform X3
Protein Domains
JmjC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15652-F1-model_v2 AlphaFold Q15652 1-2540 view protein structure

Promoters
RGD ID:7217661
Promoter ID:EPDNEW_H14576
Type:initiation region
Name:JMJD1C_3
Description:jumonji domain containing 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14578  EPDNEW_H14577  EPDNEW_H14581  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,268,929 - 63,268,989EPDNEW
RGD ID:7217665
Promoter ID:EPDNEW_H14577
Type:initiation region
Name:JMJD1C_4
Description:jumonji domain containing 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14576  EPDNEW_H14578  EPDNEW_H14581  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,269,046 - 63,269,106EPDNEW
RGD ID:7217663
Promoter ID:EPDNEW_H14578
Type:initiation region
Name:JMJD1C_1
Description:jumonji domain containing 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14576  EPDNEW_H14577  EPDNEW_H14581  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,269,214 - 63,269,274EPDNEW
RGD ID:7217671
Promoter ID:EPDNEW_H14581
Type:initiation region
Name:JMJD1C_2
Description:jumonji domain containing 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14576  EPDNEW_H14578  EPDNEW_H14577  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381063,521,890 - 63,521,950EPDNEW
RGD ID:6787799
Promoter ID:HG_KWN:9743
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000048251
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,607,006 - 64,607,506 (-)MPROMDB
RGD ID:6787829
Promoter ID:HG_KWN:9744
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001JMO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,620,356 - 64,620,856 (-)MPROMDB
RGD ID:6787797
Promoter ID:HG_KWN:9747
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000048250,   UC009XPK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,636,376 - 64,637,757 (-)MPROMDB
RGD ID:6787796
Promoter ID:HG_KWN:9748
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000327520
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,643,234 - 64,643,734 (-)MPROMDB
RGD ID:6787532
Promoter ID:HG_KWN:9750
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001JMP.1,   UC009XPJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,698,664 - 64,699,164 (-)MPROMDB
RGD ID:6787798
Promoter ID:HG_KWN:9751
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:NM_004241,   OTTHUMT00000048258,   OTTHUMT00000048259,   UC001JMM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,698,756 - 64,699,256 (-)MPROMDB
RGD ID:6787801
Promoter ID:HG_KWN:9757
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000399251,   OTTHUMT00000048249,   UC001JMR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361064,895,384 - 64,895,884 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12313 AgrOrtholog
COSMIC JMJD1C COSMIC
Ensembl Genes ENSG00000171988 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000399262 ENTREZGENE
  ENST00000399262.7 UniProtKB/Swiss-Prot
  ENST00000402544 ENTREZGENE
  ENST00000542921 ENTREZGENE
  ENST00000542921.5 UniProtKB/Swiss-Prot
Gene3D-CATH Cupin UniProtKB/Swiss-Prot
GTEx ENSG00000171988 GTEx
HGNC ID HGNC:12313 ENTREZGENE
Human Proteome Map JMJD1C Human Proteome Map
InterPro DUF7030 UniProtKB/Swiss-Prot
  JHDM2-like UniProtKB/Swiss-Prot
  JmjC_dom UniProtKB/Swiss-Prot
  KDM3AB_Tudor UniProtKB/Swiss-Prot
  PWWP_KDM3B UniProtKB/Swiss-Prot
KEGG Report hsa:221037 UniProtKB/Swiss-Prot
NCBI Gene JMJD1C ENTREZGENE
OMIM 604503 OMIM
PANTHER JMJC DOMAIN-CONTAINING HISTONE DEMETHYLATION PROTEIN 2C-RELATED UniProtKB/Swiss-Prot
  PTHR12549 UniProtKB/Swiss-Prot
Pfam DUF7030 UniProtKB/Swiss-Prot
  JmjC UniProtKB/Swiss-Prot
  KDM3B_Tudor UniProtKB/Swiss-Prot
  PWWP_KDM3B UniProtKB/Swiss-Prot
PharmGKB PA128394767 PharmGKB
PROSITE JMJC UniProtKB/Swiss-Prot
SMART JmjC UniProtKB/Swiss-Prot
Superfamily-SCOP Clavaminate synthase-like UniProtKB/Swiss-Prot
UniProt A0PJE4_HUMAN UniProtKB/TrEMBL
  A0T124 ENTREZGENE
  B7ZLC8 ENTREZGENE, UniProtKB/TrEMBL
  H7BXU7_HUMAN UniProtKB/TrEMBL
  JHD2C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5SQZ8 ENTREZGENE
  Q5SQZ9 ENTREZGENE
  Q5SR00 ENTREZGENE
  Q7Z3E7 ENTREZGENE
  Q8N3U0 ENTREZGENE
  Q96KB9 ENTREZGENE
  Q9P2G7 ENTREZGENE
UniProt Secondary A0T124 UniProtKB/Swiss-Prot
  Q5SQZ8 UniProtKB/Swiss-Prot
  Q5SQZ9 UniProtKB/Swiss-Prot
  Q5SR00 UniProtKB/Swiss-Prot
  Q7Z3E7 UniProtKB/Swiss-Prot
  Q8N3U0 UniProtKB/Swiss-Prot
  Q96KB9 UniProtKB/Swiss-Prot
  Q9P2G7 UniProtKB/Swiss-Prot