MTHFR (methylenetetrahydrofolate reductase) - Rat Genome Database

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Gene: MTHFR (methylenetetrahydrofolate reductase) Homo sapiens
Analyze
Symbol: MTHFR
Name: methylenetetrahydrofolate reductase
RGD ID: 733483
HGNC Page HGNC:7436
Description: Enables flavin adenine dinucleotide binding activity; methylenetetrahydrofolate reductase [NAD(P)H] activity; and modified amino acid binding activity. Involved in homocysteine metabolic process; methionine metabolic process; and tetrahydrofolate interconversion. Predicted to be active in cytosol. Implicated in several diseases, including carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); kidney failure (multiple); and liver disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase (NAD(P)H); methylenetetrahydrofolate reductase (NADPH)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black 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
GRCh38111,785,723 - 11,805,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,785,723 - 11,806,455 (-)Ensemblhg38GRCh38
GRCh37111,845,780 - 11,866,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,768,374 - 11,788,702 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34111,780,944 - 11,800,248NCBI
Celera110,959,433 - 10,979,782 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,000,872 - 11,021,217 (-)NCBIHuRef
CHM1_1111,833,709 - 11,854,054 (-)NCBICHM1_1
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (IAGP)
acute kidney failure  (EXP)
acute lymphoblastic leukemia  (EXP,IAGP)
acute myeloid leukemia  (IAGP)
Albuminuria  (IAGP)
alcoholic liver cirrhosis  (IAGP)
allergic disease  (EXP)
alopecia  (EXP)
Alzheimer's disease  (EXP)
amyotrophic lateral sclerosis  (IAGP)
anemia  (EXP,IAGP)
angle-closure glaucoma  (IAGP)
ankylosing spondylitis  (IAGP)
aphthous stomatitis  (IAGP)
Arsenic Poisoning  (EXP)
Arterial Occlusive Diseases  (IAGP)
asthma  (IAGP)
atherosclerosis  (IAGP)
attention deficit hyperactivity disorder  (IAGP)
autism spectrum disorder  (EXP)
autistic disorder  (EXP,IAGP)
B-Cell Chronic Lymphocytic Leukemia  (EXP)
Banti's Syndrome  (IAGP)
bipolar disorder  (EXP)
brain ischemia  (EXP)
Breast Neoplasms  (EXP)
Budd-Chiari syndrome  (IAGP)
cardia cancer  (IAGP)
cardiovascular system disease  (EXP,IAGP)
carotid stenosis  (IAGP)
cataract  (IAGP)
cerebral infarction  (IAGP)
cervical cancer  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP,IAGP)
cholangiocarcinoma  (IAGP)
chronic kidney disease  (IAGP)
chronic myeloid leukemia  (IAGP)
clear cell renal cell carcinoma  (IAGP)
cleft lip  (EXP,IAGP)
clubfoot  (EXP)
coarctation of the aorta  (IAGP)
Cognitive Dysfunction  (IAGP)
Colonic Neoplasms  (EXP)
Colorectal Neoplasms  (EXP)
congenital heart disease  (EXP)
Conotruncal Cardiac Defects  (IAGP)
coronary artery disease  (IAGP)
Coronary Disease  (EXP)
coronary restenosis  (EXP)
Crohn's disease  (EXP)
Cytomegalovirus Infections  (IDA,ISO)
depressive disorder  (EXP)
Developmental Disabilities  (IAGP)
dextro-looped transposition of the great arteries  (IAGP)
diabetes mellitus  (IAGP)
diabetic angiopathy  (EXP)
Diabetic Nephropathies  (IAGP)
diabetic retinopathy  (IAGP)
diffuse large B-cell lymphoma  (IAGP)
Down syndrome  (EXP,IAGP)
Drug Eruptions  (EXP)
Drug-Related Side Effects and Adverse Reactions  (EXP)
end stage renal disease  (IAGP)
Endometrial Neoplasms  (EXP)
epilepsy with generalized tonic-clonic seizures  (IAGP)
Experimental Diabetes Mellitus  (ISO)
eye disease  (IAGP)
factor VIII deficiency  (IAGP)
familial Mediterranean fever  (IAGP)
Female Infertility  (EXP)
Folate-Sensitive Neural Tube Defects  (EXP,IAGP)
follicular lymphoma  (EXP)
gastrointestinal stromal tumor  (IAGP)
gastrointestinal system disease  (EXP)
genetic disease  (IAGP)
glomerulonephritis  (IAGP)
graft-versus-host disease  (EXP,IAGP)
Graves' disease  (IAGP)
Habitual Abortions  (IAGP)
Hearing Loss  (IAGP)
Helicobacter Infections  (IAGP)
Hematologic Neoplasms  (IAGP)
hematopoietic system disease  (EXP)
hepatic veno-occlusive disease  (IAGP)
hepatitis B  (IAGP)
hepatocellular carcinoma  (IAGP)
hyperhomocysteinemia  (EXP,IAGP)
hyperthyroidism  (ISO)
hypopituitarism  (IAGP)
hypothyroidism  (ISO)
inflammatory bowel disease  (IAGP)
Inherited Blood Coagulation Disease  (EXP)
intellectual disability  (IAGP)
intracranial sinus thrombosis  (EXP)
ischemia  (IAGP)
kidney disease  (EXP)
kidney failure  (IAGP)
Kuhnt-Junius degeneration  (IAGP)
Left Ventricular Hypertrophy  (IAGP)
Leukoencephalopathies  (EXP)
leukopenia  (EXP)
liver benign neoplasm  (ISO)
liver cirrhosis  (IAGP)
liver disease  (EXP)
Lung Neoplasms  (EXP)
lung small cell carcinoma  (IAGP)
lymphoma  (EXP)
male infertility  (EXP,IAGP)
Malnutrition  (EXP)
Maxillofacial Abnormalities  (EXP)
Meniere's disease  (IAGP)
metabolic dysfunction-associated steatotic liver disease  (IAGP)
Methylenetetrahydrofolate Reductase Deficiency  (EXP,IAGP)
Microsatellite Instability  (EXP)
Microvascular Angina  (EXP,IAGP)
migraine  (IAGP)
migraine with aura  (IAGP)
mitral valve disease  (IAGP)
Mthfr Deficiency, Thermolabile Type  (IAGP)
mucositis  (EXP)
multiple myeloma  (IAGP)
myeloid neoplasm  (IAGP)
myelomeningocele  (EXP)
myocardial infarction  (IAGP)
Necrosis  (EXP)
Neoplasm Metastasis  (EXP)
nephroblastoma  (IAGP)
nephrosclerosis  (IAGP)
nervous system disease  (EXP)
neural tube defect  (EXP,IAGP,ISS)
neutropenia  (EXP)
non-arteritic anterior ischemic optic neuropathy  (IAGP)
non-Hodgkin lymphoma  (EXP)
open-angle glaucoma  (IAGP)
oral squamous cell carcinoma  (IAGP)
osteonecrosis  (IAGP)
osteosarcoma  (IAGP)
pancreatic cancer  (IAGP)
papillomavirus infectious disease  (IAGP)
Parkinson's disease  (EXP)
peripheral artery disease  (IAGP)
portal vein thrombosis  (IAGP)
Prenatal Exposure Delayed Effects  (ISO)
prostate cancer  (IAGP)
Prostatic Neoplasms  (EXP)
pulmonary embolism  (EXP)
rectal benign neoplasm  (IAGP)
renal artery disease  (IAGP)
renal cell carcinoma  (IAGP)
retinal disease  (ISO)
retinal vein occlusion  (IAGP)
rheumatoid arthritis  (EXP,IAGP)
schizophrenia  (EXP,IAGP)
sickle cell anemia  (IAGP)
skin disease  (EXP)
smallpox  (IAGP)
spina bifida  (EXP,IAGP)
spinal cord disease  (EXP)
sporadic breast cancer  (IAGP)
squamous cell carcinoma  (IAGP)
steatotic liver disease  (IAGP)
stomach cancer  (IAGP)
Stomach Neoplasms  (EXP)
Stroke  (EXP,IAGP)
Sudden Hearing Loss  (EXP,IAGP)
tetralogy of Fallot  (IAGP)
thrombocytopenia  (EXP,IAGP)
thrombophilia  (EXP,IAGP)
thrombophilia due to thrombin defect  (IAGP)
thrombosis  (IAGP)
Thrombotic Microangiopathies  (IAGP)
thyrotoxicosis  (EXP)
transitional cell carcinoma  (IAGP)
type 1 diabetes mellitus  (IAGP)
type 2 diabetes mellitus  (IAGP)
urinary bladder cancer  (EXP,IAGP)
Uterine Cervical Dysplasia  (EXP)
Uterine Cervical Neoplasms  (EXP)
Vascular Calcification  (IAGP)
vascular dementia  (IAGP)
vascular disease  (EXP)
Venous Thromboembolism  (IAGP)
Venous Thrombosis  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,4'-trichlorobiphenyl  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5,10-methylenetetrahydrofolic acid  (EXP)
5-fluorouracil  (EXP)
5-formyltetrahydrofolic acid  (EXP)
5-methyltetrahydrofolic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
7-Hydroxymethotrexate  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
ancitabine  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benazepril  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
clozapine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
corosolic acid  (EXP)
crocidolite asbestos  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cyproconazole  (ISO)
cytarabine  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
epoxiconazole  (ISO)
fentin chloride  (ISO)
floxuridine  (EXP)
folic acid  (EXP,ISO)
gallic acid  (EXP)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
GSK-J4  (EXP)
GW 4064  (ISO)
homocysteine  (EXP,ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
iron dichloride  (EXP)
L-methionine  (ISO)
maneb  (ISO)
methimazole  (ISO)
methotrexate  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
olanzapine  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylhydrazine  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
raloxifene  (EXP)
riboflavin  (EXP)
ritodrine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulfasalazine  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetrahydrocurcumin  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vigabatrin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal arterial physiology  (IAGP)
Abnormal B cell morphology  (IAGP)
Abnormal bladder morphology  (IAGP)
Abnormal bone marrow cell morphology  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormal calvaria morphology  (IAGP)
Abnormal cardiac biomarker test  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal circulating protein concentration  (IAGP)
Abnormal coronary artery morphology  (IAGP)
Abnormal EKG  (IAGP)
Abnormal facial skeleton morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal rectum morphology  (IAGP)
Abnormal renal glomerulus morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormal skin morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal spinal cord morphology  (IAGP)
Abnormal thrombosis  (IAGP)
Abnormal vascular morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of urine homeostasis  (IAGP)
Adrenal hypoplasia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Albuminuria  (IAGP)
Anemia  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Apnea  (IAGP)
Arteriosclerosis  (IAGP)
Ataxia  (IAGP)
Atrophy of the spinal cord  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain atrophy  (IAGP)
Brain imaging abnormality  (IAGP)
Cerebral ischemia  (IAGP)
Cerebral venous thrombosis  (IAGP)
Cervical intraepithelial neoplasia  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Cleft lip  (IAGP)
Cognitive impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Cystathioninemia  (IAGP)
Decreased glomerular filtration rate  (IAGP)
Decreased total neutrophil count  (IAGP)
Deep venous thrombosis  (IAGP)
Delayed speech and language development  (IAGP)
Delusion  (IAGP)
Depressed nasal bridge  (IAGP)
Diarrhea  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated circulating homovanillic acid concentration  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized cerebral atrophy/hypoplasia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized neonatal hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Headache  (IAGP)
Helicobacter pylori infection  (IAGP)
Hemiparesis  (IAGP)
Hemolytic anemia  (IAGP)
Holoprosencephaly  (IAGP)
Homocystinuria  (IAGP)
Hydrocephalus  (IAGP)
Hyperglycemia  (IAGP)
Hyperhomocystinemia  (IAGP)
Hyperlipoproteinemia  (IAGP)
Hypertension  (IAGP)
Hypomethioninemia  (IAGP)
Hypoplasia of the frontal bone  (IAGP)
Impaired glucose tolerance  (IAGP)
Incoordination  (IAGP)
Increased alpha-globulin  (IAGP)
Increased carotid artery intimal medial thickness  (IAGP)
Increased glomerular filtration rate  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Lethargy  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Maternal diabetes  (IAGP)
Maternal fever in pregnancy  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Moderate albuminuria  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Multiple myeloma  (IAGP)
Muscle weakness  (IAGP)
Myeloproliferative disorder  (IAGP)
Myocardial infarction  (IAGP)
Negativism  (IAGP)
Neural tube defect  (IAGP)
Nystagmus  (IAGP)
Omphalocele  (IAGP)
Optic atrophy  (IAGP)
Oropharyngeal squamous cell carcinoma  (IAGP)
Paresthesia  (IAGP)
Peripheral arterial stenosis  (IAGP)
Peripheral neuropathy  (IAGP)
Persistent human papillomavirus infection  (IAGP)
Polyhydramnios  (IAGP)
Posterior pituitary agenesis  (IAGP)
Proptosis  (IAGP)
Prostate cancer  (IAGP)
Psychosis  (IAGP)
Psychotic episodes  (IAGP)
Psychotic mentation  (IAGP)
Pulmonary embolism  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent thrombophlebitis  (IAGP)
Respiratory distress  (IAGP)
Retinal vein occlusion  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Social and occupational deterioration  (IAGP)
Spastic paraparesis  (IAGP)
Specific learning disability  (IAGP)
Spinal dysraphism  (IAGP)
Stroke  (IAGP)
Thrombocytopenia  (IAGP)
Thromboembolic stroke  (IAGP)
Thromboembolism  (IAGP)
Thymus hyperplasia  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. Adinolfi LE, etal., Hepatology. 2005 May;41(5):995-1003.
2. Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease. Al-Saqladi AW, etal., Hemoglobin. 2010;34(1):67-77. doi: 10.3109/09687630903554111.
3. Endothelial cell dysfunction in women with cardiac syndrome X and MTHFR C677T mutation. Alroy S, etal., Isr Med Assoc J. 2007 Apr;9(4):321-5.
4. Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients. Anbazhagan K, etal., Clin Chim Acta. 2009 Aug;406(1-2):108-12. Epub 2009 Jun 9.
5. Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopathic portal hypertension. Bayan K, etal., J Thromb Thrombolysis. 2009 Jul;28(1):57-62. doi: 10.1007/s11239-008-0244-8. Epub 2008 Aug 7.
6. Hyperhomocysteinemia and hypercoagulability in primary biliary cirrhosis. Biagini MR, etal., World J Gastroenterol. 2006 Mar 14;12(10):1607-12.
7. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
8. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and promoter methylation in cervical oncogenic lesions and cancer. Botezatu A, etal., J Cell Mol Med. 2013 Apr;17(4):543-9. doi: 10.1111/jcmm.12032. Epub 2013 Feb 28.
9. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Botto LD and Yang Q, Am J Epidemiol. 2000 May 1;151(9):862-77.
10. Methylenetetrahydrofolate reductase 677 T allele protects against persistent HBV infection in West Africa. Bronowicki JP, etal., J Hepatol. 2008 Apr;48(4):532-9. doi: 10.1016/j.jhep.2007.11.017. Epub 2008 Jan 2.
11. Lack of association between inherited thrombophilic risk factors and idiopathic sudden sensorineural hearing loss in Italian patients. Cadoni G, etal., Ann Otol Rhinol Laryngol. 2006 Mar;115(3):195-200.
12. Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population. Cai DW, etal., J Int Med Res. 2009 Nov-Dec;37(6):1882-9.
13. Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms. Capaccio P, etal., Genet Med. 2005 Mar;7(3):206-8.
14. The MTHFR C677T polymorphism is associated with mitral valve rheumatic heart disease. Carlus SJ, etal., Eur Rev Med Pharmacol Sci. 2016;20(1):109-14.
15. Homocysteine and stroke: evidence on a causal link from mendelian randomisation. Casas JP, etal., Lancet. 2005 Jan 15-21;365(9455):224-32.
16. Non-alcoholic fatty liver disease (NAFLD) and MTHFR 1298A > C gene polymorphism. Catalano D, etal., Eur Rev Med Pharmacol Sci. 2014;18(2):151-9.
17. Altered expression of methylenetetrahydrofolate reductase modifies response to methotrexate in mice. Celtikci B, etal., Pharmacogenet Genomics. 2008 Jul;18(7):577-89.
18. Impact of methylenetetrahydrofolate reductase polymorphisms and folate intake on the risk of gastric cancer and their association with Helicobacter pylori infection and tumor site. Chen J, etal., Genet Mol Res. 2014 Jan 24;13(4):9718-26. doi: 10.4238/2014.January.24.2.
19. The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue. Chiusolo P, etal., Cancer Chemother Pharmacol. 2012 Mar;69(3):691-6. doi: 10.1007/s00280-011-1751-4. Epub 2011 Oct 9.
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PMID:26438060   PMID:26439908   PMID:26442927   PMID:26451011   PMID:26456456   PMID:26483372   PMID:26485042   PMID:26497154   PMID:26505368   PMID:26522108   PMID:26522268   PMID:26530235  
PMID:26535623   PMID:26537580   PMID:26540672   PMID:26548935   PMID:26549413   PMID:26559681   PMID:26560857   PMID:26561410   PMID:26564107   PMID:26584688   PMID:26596059   PMID:26599798  
PMID:26620113   PMID:26646537   PMID:26650461   PMID:26654251   PMID:26662389   PMID:26662439   PMID:26677583   PMID:26678951   PMID:26681493   PMID:26687138   PMID:26689687   PMID:26710543  
PMID:26717388   PMID:26728177   PMID:26745044   PMID:26749456   PMID:26757363   PMID:26774227   PMID:26776436   PMID:26780389   PMID:26782572   PMID:26806866   PMID:26820674   PMID:26828698  
PMID:26833750   PMID:26839351   PMID:26843177   PMID:26845729   PMID:26854451   PMID:26857559   PMID:26858257   PMID:26874989   PMID:26879531   PMID:26879954   PMID:26902996   PMID:26914443  
PMID:26922200   PMID:26926881   PMID:26926955   PMID:26928923   PMID:26956130   PMID:26971290   PMID:26983014   PMID:26987498   PMID:26990189   PMID:27001121   PMID:27017342   PMID:27017713  
PMID:27018927   PMID:27025471   PMID:27031476   PMID:27035272   PMID:27050482   PMID:27051002   PMID:27051013   PMID:27062459   PMID:27068821   PMID:27089387   PMID:27097558   PMID:27126505  
PMID:27128842   PMID:27149557   PMID:27167580   PMID:27170501   PMID:27173216   PMID:27173242   PMID:27173331   PMID:27173682   PMID:27179899   PMID:27187171   PMID:27237471   PMID:27270164  
PMID:27316508   PMID:27321094   PMID:27322299   PMID:27323028   PMID:27323133   PMID:27369467   PMID:27378745   PMID:27380243   PMID:27384413   PMID:27423206   PMID:27430300   PMID:27447284  
PMID:27475959   PMID:27483173   PMID:27509404   PMID:27517946   PMID:27525841   PMID:27533339   PMID:27537741   PMID:27560137   PMID:27568010   PMID:27583843   PMID:27585654   PMID:27596009  
PMID:27603386   PMID:27613114   PMID:27614738   PMID:27619728   PMID:27659321   PMID:27706773   PMID:27725412   PMID:27755385   PMID:27759072   PMID:27760988   PMID:27773468   PMID:27774577  
PMID:27780089   PMID:27781293   PMID:27783031   PMID:27783703   PMID:27793164   PMID:27805237   PMID:27819322   PMID:27824246   PMID:27828634   PMID:27840191   PMID:27846189   PMID:27863359  
PMID:27888505   PMID:27902594   PMID:27916838   PMID:27932499   PMID:27966457   PMID:27973469   PMID:27976555   PMID:27983710   PMID:27996298   PMID:27996344   PMID:27999265   PMID:27999448  
PMID:28002332   PMID:28028860   PMID:28044213   PMID:28046029   PMID:28062297   PMID:28062724   PMID:28081209   PMID:28081274   PMID:28082187   PMID:28094233   PMID:28114181   PMID:28171870  
PMID:28187987   PMID:28188925   PMID:28211809   PMID:28215593   PMID:28225483   PMID:28252168   PMID:28253266   PMID:28270024   PMID:28271684   PMID:28277784   PMID:28281392   PMID:28283826  
PMID:28288890   PMID:28299396   PMID:28299500   PMID:28342207   PMID:28353639   PMID:28360116   PMID:28363185   PMID:28375104   PMID:28397035   PMID:28397480   PMID:28398708   PMID:28409162  
PMID:28427558   PMID:28430351   PMID:28440964   PMID:28463405   PMID:28481466   PMID:28487897   PMID:28488549   PMID:28500484   PMID:28507283   PMID:28514442   PMID:28514598   PMID:28537481  
PMID:28544525   PMID:28556887   PMID:28574380   PMID:28578513   PMID:28591039   PMID:28592186   PMID:28598562   PMID:28603947   PMID:28657672   PMID:28691890   PMID:28696419   PMID:28703660  
PMID:28722783   PMID:28758112   PMID:28779180   PMID:28814189   PMID:28820331   PMID:28842818   PMID:28847029   PMID:28858863   PMID:28862175   PMID:28871711   PMID:28876333   PMID:28887233  
PMID:28943344   PMID:28963520   PMID:28968218   PMID:28990296   PMID:28994615   PMID:29017962   PMID:29039833   PMID:29042595   PMID:29045471   PMID:29084233   PMID:29089462   PMID:29097250  
PMID:29115087   PMID:29117460   PMID:29134491   PMID:29182429   PMID:29185200   PMID:29186089   PMID:29188628   PMID:29190865   PMID:29202425   PMID:29205204   PMID:29212064   PMID:29218949  
PMID:29222906   PMID:29222982   PMID:29226645   PMID:29227003   PMID:29229926   PMID:29245302   PMID:29315997   PMID:29321350   PMID:29343135   PMID:29348398   PMID:29370017   PMID:29371246  
PMID:29373052   PMID:29373881   PMID:29390492   PMID:29390494   PMID:29392422   PMID:29395491   PMID:29395581   PMID:29396624   PMID:29396861   PMID:29398535   PMID:29427165   PMID:29428336  
PMID:29436860   PMID:29438331   PMID:29439641   PMID:29439678   PMID:29444504   PMID:29501539   PMID:29507755   PMID:29511243   PMID:29524840   PMID:29534533   PMID:29544444   PMID:29554656  
PMID:29555401   PMID:29564022   PMID:29595559   PMID:29599316   PMID:29622028   PMID:29658358   PMID:29669328   PMID:29678854   PMID:29694640   PMID:29703881   PMID:29740106   PMID:29785531  
PMID:29796841   PMID:29804062   PMID:29855758   PMID:29882091   PMID:29891918   PMID:29911750   PMID:29926428   PMID:29953924   PMID:29970526   PMID:29974397   PMID:29996520   PMID:30001659  
PMID:30024839   PMID:30052162   PMID:30053573   PMID:30061759   PMID:30080444   PMID:30081597   PMID:30084051   PMID:30098259   PMID:30115070   PMID:30120883   PMID:30128868   PMID:30136429  
PMID:30142181   PMID:30146842   PMID:30170616   PMID:30174331   PMID:30200836   PMID:30217759   PMID:30245375   PMID:30267335   PMID:30303041   PMID:30333252   PMID:30334422   PMID:30359211  
PMID:30362058   PMID:30372582   PMID:30388610   PMID:30393840   PMID:30397262   PMID:30465841   PMID:30466296   PMID:30468411   PMID:30474229   PMID:30477909   PMID:30529100   PMID:30532099  
PMID:30557982   PMID:30572478   PMID:30587867   PMID:30592864   PMID:30606816   PMID:30628508   PMID:30646578   PMID:30660395   PMID:30684021   PMID:30686687   PMID:30720153   PMID:30734679  
PMID:30743312   PMID:30781868   PMID:30786667   PMID:30786773   PMID:30796269   PMID:30813130   PMID:30837427   PMID:30851082   PMID:30852115   PMID:30860273   PMID:30862944   PMID:30877449  
PMID:30884202   PMID:30900398   PMID:30917367   PMID:30955395   PMID:30986448   PMID:30999684   PMID:31005971   PMID:31020666   PMID:31025572   PMID:31028069   PMID:31029863   PMID:31033224  
PMID:31038186   PMID:31044529   PMID:31058543   PMID:31102717   PMID:31115378   PMID:31119439   PMID:31127676   PMID:31145465   PMID:31146742   PMID:31157538   PMID:31163415   PMID:31170928  
PMID:31172624   PMID:31184621   PMID:31192962   PMID:31209737   PMID:31209768   PMID:31238314   PMID:31282757   PMID:31302825   PMID:31303355   PMID:31334388   PMID:31370354   PMID:31446167  
PMID:31448666   PMID:31452430   PMID:31454542   PMID:31470081   PMID:31476590   PMID:31499477   PMID:31502727   PMID:31523170   PMID:31552564   PMID:31554347   PMID:31571711   PMID:31573368  
PMID:31601346   PMID:31610671   PMID:31614268   PMID:31646966   PMID:31651110   PMID:31663297   PMID:31670725   PMID:31671528   PMID:31682771   PMID:31694048   PMID:31701291   PMID:31718272  
PMID:31734877   PMID:31737664   PMID:31740010   PMID:31750632   PMID:31753913   PMID:31769183   PMID:31775641   PMID:31778995   PMID:31812845   PMID:31815282   PMID:31868834   PMID:31880477  
PMID:31884153   PMID:31932513   PMID:31968288   PMID:31977861   PMID:31994856   PMID:32001764   PMID:32010931   PMID:32013623   PMID:32019154   PMID:32024416   PMID:32064757   PMID:32064992  
PMID:32073761   PMID:32098547   PMID:32120336   PMID:32124929   PMID:32135505   PMID:32145452   PMID:32146124   PMID:32146711   PMID:32160861   PMID:32162672   PMID:32170488   PMID:32192442  
PMID:32193498   PMID:32201547   PMID:32235678   PMID:32264844   PMID:32278343   PMID:32290927   PMID:32295543   PMID:32299540   PMID:32299541   PMID:32318793   PMID:32325916   PMID:32330571  
PMID:32340630   PMID:32351067   PMID:32358951   PMID:32379616   PMID:32399796   PMID:32404177   PMID:32418960   PMID:32431230   PMID:32451826   PMID:32460399   PMID:32471241   PMID:32478379  
PMID:32485115   PMID:32497019   PMID:32512924   PMID:32536231   PMID:32549258   PMID:32558492   PMID:32572074   PMID:32599117   PMID:32614041   PMID:32633259   PMID:32634649   PMID:32639550  
PMID:32675800   PMID:32682401   PMID:32700867   PMID:32702845   PMID:32727306   PMID:32727753   PMID:32758174   PMID:32790014   PMID:32804129   PMID:32826232   PMID:32865163   PMID:32871871  
PMID:32912251   PMID:32934008   PMID:32972375   PMID:32986372   PMID:32988741   PMID:33019481   PMID:33060392   PMID:33069634   PMID:33092515   PMID:33121283   PMID:33147056   PMID:33157923  
PMID:33166415   PMID:33172445   PMID:33187986   PMID:33212322   PMID:33247557   PMID:33254541   PMID:33315905   PMID:33348139   PMID:33357155   PMID:33357202   PMID:33371103   PMID:33372270  
PMID:33387129   PMID:33400068   PMID:33407572   PMID:33450284   PMID:33455465   PMID:33458918   PMID:33476699   PMID:33508999   PMID:33571559   PMID:33639933   PMID:33664006   PMID:33693817  
PMID:33742421   PMID:33784681   PMID:33802362   PMID:33813081   PMID:33813997   PMID:33833133   PMID:33914208   PMID:33920562   PMID:33923969   PMID:33930029   PMID:33961781   PMID:33993312  
PMID:34015145   PMID:34019199   PMID:34027569   PMID:34032185   PMID:34032987   PMID:34045473   PMID:34053384   PMID:34061414   PMID:34090432   PMID:34122714   PMID:34126931   PMID:34167037  
PMID:34169999   PMID:34192512   PMID:34214447   PMID:34231458   PMID:34242313   PMID:34289004   PMID:34297238   PMID:34325549   PMID:34331561   PMID:34346513   PMID:34357004   PMID:34369004  
PMID:34375425   PMID:34397449   PMID:34409847   PMID:34448443   PMID:34498771   PMID:34502300   PMID:34511169   PMID:34528870   PMID:34580600   PMID:34644732   PMID:34645434   PMID:34688820  
PMID:34694432   PMID:34709727   PMID:34730065   PMID:34749329   PMID:34752683   PMID:34817242   PMID:34845156   PMID:34877924   PMID:34895107   PMID:34907829   PMID:34956401   PMID:35008593  
PMID:35030476   PMID:35060496   PMID:35089369   PMID:35123644   PMID:35194526   PMID:35225709   PMID:35226442   PMID:35232413   PMID:35236618   PMID:35264229   PMID:35272420   PMID:35282788  
PMID:35284002   PMID:35328943   PMID:35332781   PMID:35344642   PMID:35345374   PMID:35346052   PMID:35362772   PMID:35384245   PMID:35394066   PMID:35456437   PMID:35468734   PMID:35562805  
PMID:35619268   PMID:35633528   PMID:35644200   PMID:35666819   PMID:35668704   PMID:35680906   PMID:35691911   PMID:35721657   PMID:35747958   PMID:35748872   PMID:35788150   PMID:35809305  
PMID:35821207   PMID:35822733   PMID:35834596   PMID:35856339   PMID:35880438   PMID:35904038   PMID:35917096   PMID:35929945   PMID:35931627   PMID:35951145   PMID:35999432   PMID:36011409  
PMID:36014826   PMID:36032496   PMID:36102491   PMID:36108658   PMID:36197177   PMID:36210274   PMID:36215168   PMID:36301248   PMID:36363550   PMID:36364857   PMID:36412394   PMID:36498990  
PMID:36520012   PMID:36536576   PMID:36580407   PMID:36619555   PMID:36647865   PMID:36655641   PMID:36662122   PMID:36721432   PMID:36756752   PMID:36806868   PMID:36835522   PMID:36854824  
PMID:36876682   PMID:36876707   PMID:36919686   PMID:36922394   PMID:36978223   PMID:37106323   PMID:37121723   PMID:37154151   PMID:37154866   PMID:37182212   PMID:37201763   PMID:37204128  
PMID:37260067   PMID:37302269   PMID:37327296   PMID:37355582   PMID:37462970   PMID:37522679   PMID:37527941   PMID:37605581   PMID:37628752   PMID:37689109   PMID:37738148   PMID:37843720  
PMID:37856088   PMID:37895084   PMID:37898918   PMID:37914198   PMID:37914736   PMID:37933013   PMID:37964957   PMID:38160599   PMID:38167461   PMID:38219184   PMID:38238653   PMID:38252186  
PMID:38287462   PMID:38287840   PMID:38390741   PMID:38517730   PMID:38526965   PMID:38527507   PMID:38557333   PMID:38579505   PMID:38634541   PMID:38670392   PMID:38683407   PMID:38716581  
PMID:38717090   PMID:38724491   PMID:38743580   PMID:38782407   PMID:38848035   PMID:38864767   PMID:38901983   PMID:38908773   PMID:38931298   PMID:38977943   PMID:38999753   PMID:39026333  
PMID:39310265   PMID:39325233   PMID:39340999   PMID:39414907   PMID:39448729   PMID:40355756   PMID:40440437   PMID:40593736  


Genomics

Comparative Map Data
MTHFR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,785,723 - 11,805,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,785,723 - 11,806,455 (-)Ensemblhg38GRCh38
GRCh37111,845,780 - 11,866,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,768,374 - 11,788,702 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34111,780,944 - 11,800,248NCBI
Celera110,959,433 - 10,979,782 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,000,872 - 11,021,217 (-)NCBIHuRef
CHM1_1111,833,709 - 11,854,054 (-)NCBICHM1_1
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBIT2T-CHM13v2.0
Mthfr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,123,534 - 148,144,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,123,534 - 148,144,008 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm384148,039,077 - 148,059,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,039,077 - 148,059,551 (+)Ensemblmm10GRCm38
MGSCv374147,413,186 - 147,433,671 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364146,885,022 - 146,903,349 (+)NCBIMGSCv36mm8
Celera4150,305,674 - 150,326,065 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.67NCBI
Mthfr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85163,748,346 - 163,768,141 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5163,748,321 - 163,768,105 (+)EnsemblGRCr8
mRatBN7.25158,465,248 - 158,484,999 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)EnsemblmRatBN7.2
Rnor_6.05164,844,642 - 164,864,360 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)Ensemblrn6Rnor6.0
Rnor_5.05168,502,556 - 168,522,350 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45165,112,850 - 165,126,885 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5156,747,024 - 156,766,742 (+)NCBICelera
RGSC_v3.15165,123,406 - 165,137,073 (+)NCBI
Cytogenetic Map5q36NCBI
Mthfr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554862,096,379 - 2,112,240 (+)Ensembl
ChiLan1.0NW_0049554862,096,379 - 2,112,240 (+)NCBIChiLan1.0ChiLan1.0
MTHFR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21216,418,108 - 216,434,079 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,063,577 - 215,079,672 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0110,548,196 - 10,568,174 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,766,334 - 11,785,645 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,766,334 - 11,785,419 (-)EnsemblpanPan2panpan1.1
MTHFR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,445,526 - 84,457,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,380,919 - 84,536,818 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha280,977,302 - 80,990,296 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0285,109,058 - 85,123,378 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl285,109,070 - 85,122,016 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,858,180 - 81,870,539 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,857,476 - 82,872,293 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,920,334 - 83,933,329 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Mthfr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474623,291 - 638,193 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,863,637 - 71,881,820 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1671,863,637 - 71,882,118 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,776,804 - 65,791,405 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,987,667 - 120,003,611 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,990,133 - 120,002,950 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605423,855,633 - 23,871,475 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mthfr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248181,187,869 - 1,199,168 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248181,184,736 - 1,202,708 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Mthfr
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1112,723,496 - 12,739,595 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in MTHFR
978 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
MTHFR, 1084C-T single nucleotide variant Homocystinuria due to MTHFR deficiency [RCV000003702] Chr1:1p36.3 pathogenic
MTHFR, 1711C-T single nucleotide variant Homocystinuria due to MTHFR deficiency [RCV000003703] Chr1:1p36.3 pathogenic
MTHFR, 1081C-T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003387436] Chr1:1p36.3 pathogenic
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000546103]|Neural tube defects, folate-sensitive [RCV003470753]|not provided [RCV004592577] Chr1:11793907 [GRCh38]
Chr1:11853964 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001813944]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001209716] Chr1:11800251 [GRCh38]
Chr1:11860308 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001382824]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002476918]|Neural tube defects, folate-sensitive [RCV003460410]|not provided [RCV004719616] Chr1:11801166 [GRCh38]
Chr1:11861223 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000144921]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001030751]|MTHFR THERMOLABILE POLYMORPHISM [RCV000003697]|Neural tube defects, folate-sensitive [RCV000259890]|See cases [RCV004584309]|Thrombophilia due to thrombin defect [RCV005419857]|methotrexate response - Toxicity [RCV001847567]|not provided [RCV000153516]|not specified [RCV000428048] Chr1:11796321 [GRCh38]
Chr1:11856378 [GRCh37]
Chr1:1p36.22		 pathogenic|risk factor|association|benign|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|other|not provided
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000144922]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001197542]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005394111]|MTHFR THERMOLABILE POLYMORPHISM [RCV000003698]|MTHFR-related disorder [RCV003974792]|Neural tube defects, folate-sensitive [RCV000350590]|Schizophrenia, susceptibility to [RCV000003699]|not provided [RCV000153515]|not specified [RCV000430863] Chr1:11794419 [GRCh38]
Chr1:11794419..11794420 [GRCh38]
Chr1:11854476 [GRCh37]
Chr1:11854476..11854477 [GRCh37]
Chr1:1p36.22		 likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|no classifications from unflagged records|other|not provided
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002225067] Chr1:11795158 [GRCh38]
Chr1:11855215 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001851626] Chr1:11795114 [GRCh38]
Chr1:11855171 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000003705] Chr1:11791216 [GRCh38]
Chr1:11851273 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000642247]|Neural tube defects, folate-sensitive [RCV003460411]|not provided [RCV000756357] Chr1:11794766 [GRCh38]
Chr1:11854823 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002512718]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005007812]|Neural tube defects, folate-sensitive [RCV003466798] Chr1:11795161 [GRCh38]
Chr1:11855218 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 copy number gain See cases [RCV000051460] Chr1:11654070..12768656 [GRCh38]
Chr1:11714127..12828807 [GRCh37]
Chr1:11636714..12751394 [NCBI36]
Chr1:1p36.22-36.21		 uncertain significance
GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3 copy number gain See cases [RCV000051461] Chr1:11737130..12169786 [GRCh38]
Chr1:11797187..12229843 [GRCh37]
Chr1:11719774..12152430 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.22(chr1:11684360-11885011)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053184]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053184]|See cases [RCV000053184] Chr1:11684360..11885011 [GRCh38]
Chr1:11744417..11945068 [GRCh37]
Chr1:11667004..11867655 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 copy number loss See cases [RCV000053758] Chr1:10203955..12060262 [GRCh38]
Chr1:10264013..12120319 [GRCh37]
Chr1:10186600..12042906 [NCBI36]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003387441]|not provided [RCV000657793] Chr1:11792372 [GRCh38]
Chr1:11852429 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000661921]|not provided [RCV002263926]|not specified [RCV004689830] Chr1:11794732 [GRCh38]
Chr1:11854789 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.476-2A>C single nucleotide variant not provided [RCV003126324] Chr1:11800324 [GRCh38]
Chr1:11860381 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.417G>A (p.Thr139=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000862880]|Inborn genetic diseases [RCV002326972]|not provided [RCV005230040]|not specified [RCV000177250] Chr1:11801219 [GRCh38]
Chr1:11861276 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.276C>T (p.Asp92=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000860956]|Inborn genetic diseases [RCV002433773]|not provided [RCV005230041]|not specified [RCV000177251] Chr1:11801360 [GRCh38]
Chr1:11861417 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.358T>C (p.Cys120Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004818852] Chr1:11801278 [GRCh38]
Chr1:11861335 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1739del (p.Phe580fs) deletion Prostate cancer [RCV000149178] Chr1:11791220 [GRCh38]
Chr1:11851277 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000763727]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001081882]|MTHFR-related disorder [RCV003947466]|not provided [RCV000173820] Chr1:11792354 [GRCh38]
Chr1:11852411 [GRCh37]
Chr1:1p36.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.*7G>A single nucleotide variant not provided [RCV000174347] Chr1:11790673 [GRCh38]
Chr1:11850730 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001516074]|MTHFR-related disorder [RCV003965255]|not provided [RCV000174348]|not specified [RCV000433699] Chr1:11790870 [GRCh38]
Chr1:11850927 [GRCh37]
Chr1:1p36.22		 benign|likely benign|other|not provided
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3 copy number gain See cases [RCV000139615] Chr1:11737130..12006139 [GRCh38]
Chr1:11797187..12066196 [GRCh37]
Chr1:11719774..11988783 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001523553]|not provided [RCV004713389]|not specified [RCV000153514] Chr1:11794400 [GRCh38]
Chr1:11854457 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002478570]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002516691]|not provided [RCV000175816] Chr1:11802966 [GRCh38]
Chr1:11863023 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.-13-28_-13-27del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167585] Chr1:11803156..11803157 [GRCh38]
Chr1:11863213..11863214 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167586]|not specified [RCV005406874] Chr1:11802981 [GRCh38]
Chr1:11863038 [GRCh37]
Chr1:1p36.22		 pathogenic|likely benign|uncertain significance
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167587]|Neural tube defects, folate-sensitive [RCV003468812] Chr1:11802980 [GRCh38]
Chr1:11863037 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167588] Chr1:11802941 [GRCh38]
Chr1:11862998 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167589]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005008085]|Neural tube defects, folate-sensitive [RCV003462246] Chr1:11802915 [GRCh38]
Chr1:11862972 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167590]|not provided [RCV005429226] Chr1:11801392 [GRCh38]
Chr1:11861449 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.264_302dup (p.Leu89_Pro101dup) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167591] Chr1:11801333..11801334 [GRCh38]
Chr1:11861390..11861391 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167592]|Neural tube defects, folate-sensitive [RCV003462247] Chr1:11801299 [GRCh38]
Chr1:11861356 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167593]|not specified [RCV003323422] Chr1:11801257 [GRCh38]
Chr1:11861314 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167594] Chr1:11801248 [GRCh38]
Chr1:11861305 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167595]|Neural tube defects, folate-sensitive [RCV004567354] Chr1:11801196 [GRCh38]
Chr1:11861253 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167596]|Neural tube defects, folate-sensitive [RCV003468813]|Thrombophilia due to thrombin defect [RCV005419880]|not provided [RCV000993916] Chr1:11800250 [GRCh38]
Chr1:11860307 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167597] Chr1:11796399 [GRCh38]
Chr1:11856456 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167598]|not specified [RCV001532929] Chr1:11796341..11796343 [GRCh38]
Chr1:11856398..11856400 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167599] Chr1:11796313 [GRCh38]
Chr1:11856370 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.671TCA[2] (p.Ile226del) microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167600] Chr1:11796307..11796309 [GRCh38]
Chr1:11856364..11856366 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167601] Chr1:11796226 [GRCh38]
Chr1:11856283 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.764G>T (p.Gly255Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167602] Chr1:11796222 [GRCh38]
Chr1:11856279 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167603] Chr1:11796219 [GRCh38]
Chr1:11856276 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.769T>G (p.Phe257Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167604]|not specified [RCV005406875] Chr1:11796217 [GRCh38]
Chr1:11856274 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.780+1G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167605] Chr1:11796205 [GRCh38]
Chr1:11856262 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167606]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005396499]|Neural tube defects, folate-sensitive [RCV003468814]|not specified [RCV004526623] Chr1:11795125 [GRCh38]
Chr1:11855182 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167607] Chr1:11794853 [GRCh38]
Chr1:11854910 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167608] Chr1:11794835 [GRCh38]
Chr1:11854892 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167609] Chr1:11794807 [GRCh38]
Chr1:11854864 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167610] Chr1:11794781 [GRCh38]
Chr1:11854838 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1167-2del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167611]|Neural tube defects, folate-sensitive [RCV003462248] Chr1:11794540 [GRCh38]
Chr1:11854597 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167612]|Neural tube defects, folate-sensitive [RCV003462249]|not provided [RCV001268212] Chr1:11794443 [GRCh38]
Chr1:11854500 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167613]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002498831]|Neural tube defects, folate-sensitive [RCV003462250] Chr1:11794385 [GRCh38]
Chr1:11854442 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167614] Chr1:11793921 [GRCh38]
Chr1:11853978 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1530+2T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167615] Chr1:11793905 [GRCh38]
Chr1:11853962 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167616] Chr1:11792304 [GRCh38]
Chr1:11852361 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1632+2T>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167617]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002492678]|Neural tube defects, folate-sensitive [RCV003468815]|not provided [RCV001753577] Chr1:11792276 [GRCh38]
Chr1:11852333 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167618]|Neural tube defect [RCV000709684]|Neural tube defects, folate-sensitive [RCV003468816] Chr1:11791276 [GRCh38]
Chr1:11851333 [GRCh37]
Chr1:1p36.22		 pathogenic|risk factor
NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167619] Chr1:11791235 [GRCh38]
Chr1:11851292 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1752+1G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167620]|Neural tube defects, folate-sensitive [RCV003468817] Chr1:11791206 [GRCh38]
Chr1:11851263 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1753-18G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167621]|Neural tube defects, folate-sensitive [RCV003462251] Chr1:11790916 [GRCh38]
Chr1:11850973 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167622] Chr1:11790858 [GRCh38]
Chr1:11850915 [GRCh37]
Chr1:1p36.22		 pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1797_1798delinsGT (p.Tyr599_Glu600delinsTer) indel Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167623] Chr1:11790853..11790854 [GRCh38]
Chr1:11850910..11850911 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167624] Chr1:11790843 [GRCh38]
Chr1:11850900 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167625] Chr1:11790768 [GRCh38]
Chr1:11850825 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000167626]|Neural tube defects, folate-sensitive [RCV004567355] Chr1:11790682 [GRCh38]
Chr1:11850739 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002478598]|not provided [RCV000179909] Chr1:11794831 [GRCh38]
Chr1:11854888 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003105810]|not provided [RCV000179910] Chr1:11794861 [GRCh38]
Chr1:11854918 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001079521]|MTHFR-related disorder [RCV003967447]|not provided [RCV000180626] Chr1:11794045 [GRCh38]
Chr1:11854102 [GRCh37]
Chr1:1p36.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001493852]|not provided [RCV000180627] Chr1:11793922 [GRCh38]
Chr1:11853979 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000979281] Chr1:11794761 [GRCh38]
Chr1:11854818 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000863477]|Inborn genetic diseases [RCV003298352] Chr1:11794059 [GRCh38]
Chr1:11854116 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001336891]|not provided [RCV003884446] Chr1:11788023 [GRCh38]
Chr1:11848080 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.813G>A (p.Leu271=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001438919]|Inborn genetic diseases [RCV003298354] Chr1:11795316 [GRCh38]
Chr1:11855373 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1606G>A (p.Val536Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000190390] Chr1:11792304 [GRCh38]
Chr1:11852361 [GRCh37]
Chr1:1p36.22		 not provided
NM_005957.5(MTHFR):c.1611T>A (p.Asn537Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000190391] Chr1:11792299 [GRCh38]
Chr1:11852356 [GRCh37]
Chr1:1p36.22		 not provided
NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000190392] Chr1:11802920 [GRCh38]
Chr1:11862977 [GRCh37]
Chr1:1p36.22		 not provided
NM_005957.5(MTHFR):c.781-12T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002089244] Chr1:11795360 [GRCh38]
Chr1:11855417 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001516075]|not provided [RCV004713509]|not specified [RCV000441116] Chr1:11794839 [GRCh38]
Chr1:11854896 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.4(MTHFR):c.1649A>G (p.Asn550Ser) single nucleotide variant Neural tube defects, folate-sensitive [RCV000280809] Chr1:11791310 [GRCh38]
Chr1:11851367 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2301C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000291361] Chr1:11788379 [GRCh38]
Chr1:11848436 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.1861C>G (p.Leu621Val) single nucleotide variant Neural tube defects, folate-sensitive [RCV000378011] Chr1:11790790 [GRCh38]
Chr1:11850847 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22(chr1:11850846-11867218)x3 copy number gain Breast ductal adenocarcinoma [RCV000207118] Chr1:11850846..11867218 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001086063]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002494906]|MTHFR-related disorder [RCV003977821]|not provided [RCV005256507] Chr1:11794028 [GRCh38]
Chr1:11854085 [GRCh37]
Chr1:1p36.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001941103] Chr1:11790702 [GRCh38]
Chr1:11850759 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001510133]|Inborn genetic diseases [RCV005384694]|not provided [RCV001701936] Chr1:11795259 [GRCh38]
Chr1:11855316 [GRCh37]
Chr1:1p36.22		 benign|likely benign|uncertain significance
NM_005957.5(MTHFR):c.867C>A (p.Asp289Glu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002604500] Chr1:11795262 [GRCh38]
Chr1:11855319 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001894913]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002506924]|Schizophrenia [RCV002468946]|not provided [RCV004691452] Chr1:11796313 [GRCh38]
Chr1:11856370 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1011G>A (p.Gly337=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001406326]|Inborn genetic diseases [RCV003298353] Chr1:11795118 [GRCh38]
Chr1:11855175 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001086227]|Inborn genetic diseases [RCV002411180]|not provided [RCV000733915] Chr1:11790890 [GRCh38]
Chr1:11850947 [GRCh37]
Chr1:1p36.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.4(MTHFR):c.371C>G (p.Thr124Ser) single nucleotide variant Neural tube defects, folate-sensitive [RCV000317405] Chr1:11801265 [GRCh38]
Chr1:11861322 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.117C>T (p.Pro39=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001518696]|not provided [RCV004713510]|not specified [RCV000420664] Chr1:11803000 [GRCh38]
Chr1:11863057 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001082026]|not provided [RCV000595772]|not specified [RCV004701685] Chr1:11796319 [GRCh38]
Chr1:11856376 [GRCh37]
Chr1:1p36.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.4(MTHFR):c.*2805A>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000267886] Chr1:11787875 [GRCh38]
Chr1:11847932 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4679C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000284693] Chr1:11786001 [GRCh38]
Chr1:11846058 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*702del deletion Neural tube defects, folate-sensitive [RCV000279076] Chr1:11789978 [GRCh38]
Chr1:11850035 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*3301A>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000280183] Chr1:11787379 [GRCh38]
Chr1:11847436 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*1422G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000274087] Chr1:11789258 [GRCh38]
Chr1:11849315 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21		 likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
NM_005957.4(MTHFR):c.*121C>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000269311] Chr1:11790559 [GRCh38]
Chr1:11850616 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*3995G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000267425] Chr1:11786685 [GRCh38]
Chr1:11846742 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*21C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000273059] Chr1:11790659 [GRCh38]
Chr1:11850716 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1290T>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000277799] Chr1:11789390 [GRCh38]
Chr1:11849447 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.4(MTHFR):c.*2553G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000332426] Chr1:11788127 [GRCh38]
Chr1:11848184 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1765C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000300033] Chr1:11788915 [GRCh38]
Chr1:11848972 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*4485C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000301152] Chr1:11786195 [GRCh38]
Chr1:11846252 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*2801C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000315990] Chr1:11787879 [GRCh38]
Chr1:11847936 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2669C>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000354545] Chr1:11788011 [GRCh38]
Chr1:11848068 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*866C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000377136] Chr1:11789814 [GRCh38]
Chr1:11849871 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4505C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000336028] Chr1:11786175 [GRCh38]
Chr1:11846232 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*584C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000336501] Chr1:11790096 [GRCh38]
Chr1:11850153 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2835G>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000303076] Chr1:11787845 [GRCh38]
Chr1:11847902 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*2876C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000403142] Chr1:11787804 [GRCh38]
Chr1:11847861 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*3288C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000318902] Chr1:11787392 [GRCh38]
Chr1:11847449 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*2653C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000319594] Chr1:11788027 [GRCh38]
Chr1:11848084 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*732G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000380622] Chr1:11789948 [GRCh38]
Chr1:11850005 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1858T>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000404791] Chr1:11788822 [GRCh38]
Chr1:11848879 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.4(MTHFR):c.*2497G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000287934] Chr1:11788183 [GRCh38]
Chr1:11848240 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4900C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000382256] Chr1:11785780 [GRCh38]
Chr1:11845837 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001010881.2(C1orf167):c.3924C>T (p.His1308=) single nucleotide variant Neural tube defects, folate-sensitive [RCV000383390]|not provided [RCV005425922] Chr1:11788224 [GRCh38]
Chr1:11848281 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.4(MTHFR):c.*4791G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000383322] Chr1:11785889 [GRCh38]
Chr1:11845946 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*4290C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000405207] Chr1:11786390 [GRCh38]
Chr1:11846447 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.*372A>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001523551]|not provided [RCV004713508] Chr1:11790308 [GRCh38]
Chr1:11850365 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.4(MTHFR):c.*4084G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000405433] Chr1:11786596 [GRCh38]
Chr1:11846653 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*543G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000407466] Chr1:11790137 [GRCh38]
Chr1:11850194 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*3028G>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000408096] Chr1:11787652 [GRCh38]
Chr1:11847709 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*736C>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000342368] Chr1:11789944 [GRCh38]
Chr1:11850001 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*4070_*4077del deletion Neural tube defects, folate-sensitive [RCV000363142]|not provided [RCV004691133] Chr1:11786603..11786610 [GRCh38]
Chr1:11846660..11846667 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2598C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000385841] Chr1:11788082 [GRCh38]
Chr1:11848139 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*3219C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000293090] Chr1:11787461 [GRCh38]
Chr1:11847518 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*4074_*4077del deletion Neural tube defects, folate-sensitive [RCV000308474] Chr1:11786603..11786606 [GRCh38]
Chr1:11846660..11846663 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*3046G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000344422] Chr1:11787634 [GRCh38]
Chr1:11847691 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*22G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000365251] Chr1:11790658 [GRCh38]
Chr1:11850715 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2965C>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000366362] Chr1:11787715 [GRCh38]
Chr1:11847772 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*2594C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000293884] Chr1:11788086 [GRCh38]
Chr1:11848143 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2978G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000309373] Chr1:11787702 [GRCh38]
Chr1:11847759 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.4(MTHFR):c.*3088C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000296447] Chr1:11787592 [GRCh38]
Chr1:11847649 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*934G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000329438] Chr1:11789746 [GRCh38]
Chr1:11849803 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1294G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000370067] Chr1:11789386 [GRCh38]
Chr1:11849443 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2053G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000392546] Chr1:11788627 [GRCh38]
Chr1:11848684 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4168A>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000371128] Chr1:11786512 [GRCh38]
Chr1:11846569 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*174del deletion Neural tube defects, folate-sensitive [RCV000370989] Chr1:11790506 [GRCh38]
Chr1:11850563 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1389G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000312875] Chr1:11789291 [GRCh38]
Chr1:11849348 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001010881.2(C1orf167):c.3568-108_3568-106dup duplication Neural tube defects, folate-sensitive [RCV000372447] Chr1:11787277..11787278 [GRCh38]
Chr1:11847334..11847335 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.*4076_*4077dup duplication Neural tube defects, folate-sensitive [RCV000273291] Chr1:11786602..11786603 [GRCh38]
Chr1:11846659..11846660 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*1018A>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000272048] Chr1:11789662 [GRCh38]
Chr1:11849719 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002519278]|Inborn genetic diseases [RCV004021216]|not provided [RCV000312218] Chr1:11795276 [GRCh38]
Chr1:11855333 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) indel Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000811402]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005396885]|not provided [RCV000385555] Chr1:11794028..11794029 [GRCh38]
Chr1:11854085..11854086 [GRCh37]
Chr1:1p36.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.*4644dup duplication Neural tube defects, folate-sensitive [RCV000339671] Chr1:11786035..11786036 [GRCh38]
Chr1:11846092..11846093 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.4(MTHFR):c.-15G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000263565] Chr1:11805889 [GRCh38]
Chr1:11865946 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1753-14dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635908]|Neural tube defects, folate-sensitive [RCV000372983] Chr1:11790911..11790912 [GRCh38]
Chr1:11850968..11850969 [GRCh37]
Chr1:1p36.22		 benign|uncertain significance
NM_005957.5(MTHFR):c.788A>C (p.His263Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001081108]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005396889]|not provided [RCV000320382] Chr1:11795341 [GRCh38]
Chr1:11855398 [GRCh37]
Chr1:1p36.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001082332]|Inborn genetic diseases [RCV002365318]|MTHFR-related disorder [RCV003957475]|not provided [RCV000289836] Chr1:11796278 [GRCh38]
Chr1:11856335 [GRCh37]
Chr1:1p36.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.89C>T (p.Ser30Leu) single nucleotide variant not provided [RCV000259822] Chr1:11803028 [GRCh38]
Chr1:11863085 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000534228]|MTHFR-related disorder [RCV003977735]|not provided [RCV000755305]|not specified [RCV000261696] Chr1:11790693 [GRCh38]
Chr1:11850750 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001080742]|Inborn genetic diseases [RCV004021088]|not provided [RCV000295603] Chr1:11801288 [GRCh38]
Chr1:11861345 [GRCh37]
Chr1:1p36.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.4(MTHFR):c.*4884C>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000269080] Chr1:11785796 [GRCh38]
Chr1:11845853 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*2474_*2476del deletion Neural tube defects, folate-sensitive [RCV000345123] Chr1:11788204..11788206 [GRCh38]
Chr1:11848261..11848263 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4549G>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000380334] Chr1:11786131 [GRCh38]
Chr1:11846188 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.-69_-63del deletion Neural tube defects, folate-sensitive [RCV000330454] Chr1:11805937..11805943 [GRCh38]
Chr1:11865994..11866000 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1234T>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000382810] Chr1:11789446 [GRCh38]
Chr1:11849503 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1993C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000305845] Chr1:11788687 [GRCh38]
Chr1:11848744 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*372_*373insTACC insertion Neural tube defects, folate-sensitive [RCV000349222] Chr1:11790307..11790308 [GRCh38]
Chr1:11850364..11850365 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*817G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000283922] Chr1:11789863 [GRCh38]
Chr1:11849920 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1860G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000335105] Chr1:11788820 [GRCh38]
Chr1:11848877 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*3189T>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000350189] Chr1:11787491 [GRCh38]
Chr1:11847548 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001080571]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002497257]|Inborn genetic diseases [RCV002420569]|not provided [RCV000842646]|not specified [RCV000597025] Chr1:11790692 [GRCh38]
Chr1:11850749 [GRCh37]
Chr1:1p36.22		 benign|likely benign|drug response
NM_005957.4(MTHFR):c.*109C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000307994] Chr1:11790571 [GRCh38]
Chr1:11850628 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*3158G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000408109] Chr1:11787522 [GRCh38]
Chr1:11847579 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4421T>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000337328] Chr1:11786259 [GRCh38]
Chr1:11846316 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2526C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000389287] Chr1:11788154 [GRCh38]
Chr1:11848211 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4506T>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000285953] Chr1:11786174 [GRCh38]
Chr1:11846231 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2222C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000339310] Chr1:11788458 [GRCh38]
Chr1:11848515 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*3963G>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000324854] Chr1:11786717 [GRCh38]
Chr1:11846774 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*4489T>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000392963] Chr1:11786191 [GRCh38]
Chr1:11846248 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4267T>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000311887] Chr1:11786413 [GRCh38]
Chr1:11846470 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*1285T>G single nucleotide variant Neural tube defects, folate-sensitive [RCV000325904] Chr1:11789395 [GRCh38]
Chr1:11849452 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*1531C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000357197] Chr1:11789149 [GRCh38]
Chr1:11849206 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4041G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000357542] Chr1:11786639 [GRCh38]
Chr1:11846696 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*3284G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV000375755] Chr1:11787396 [GRCh38]
Chr1:11847453 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*513C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000301264] Chr1:11790167 [GRCh38]
Chr1:11850224 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*2809T>C single nucleotide variant Neural tube defects, folate-sensitive [RCV000360206] Chr1:11787871 [GRCh38]
Chr1:11847928 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*367_*369dup duplication Neural tube defects, folate-sensitive [RCV000313987] Chr1:11790310..11790311 [GRCh38]
Chr1:11850367..11850368 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*4058_*4061del deletion Neural tube defects, folate-sensitive [RCV000328402] Chr1:11786619..11786622 [GRCh38]
Chr1:11846676..11846679 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.4(MTHFR):c.*4798C>T single nucleotide variant Neural tube defects, folate-sensitive [RCV000328697] Chr1:11785882 [GRCh38]
Chr1:11845939 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1032-6A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001079669]|MTHFR-related disorder [RCV003952969]|not provided [RCV000591861] Chr1:11794869 [GRCh38]
Chr1:11854926 [GRCh37]
Chr1:1p36.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.111G>A (p.Leu37=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002531084]|not provided [RCV000597835] Chr1:11803006 [GRCh38]
Chr1:11863063 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1A>G (p.Met1Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002532693]|not provided [RCV000599118] Chr1:11803116 [GRCh38]
Chr1:11863173 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000795662]|Mendelian syndromes with cleft lip/palate [RCV003314624]|Neural tube defects, folate-sensitive [RCV003459473]|not provided [RCV000596599] Chr1:11794733 [GRCh38]
Chr1:11854790 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739) copy number loss not provided [RCV000767547] Chr1:11690766..12835739 [GRCh37]
Chr1:1p36.22-36.21		 pathogenic
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000625779] Chr1:11801399 [GRCh38]
Chr1:11861456 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001359355]|not provided [RCV000591467] Chr1:11795314 [GRCh38]
Chr1:11855371 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.236+3A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000863733]|MTHFR-related disorder [RCV003918190]|not provided [RCV003424312]|not specified [RCV000728659] Chr1:11802878 [GRCh38]
Chr1:11862935 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001401394]|MTHFR-related disorder [RCV003980376]|not provided [RCV000731422] Chr1:11792285 [GRCh38]
Chr1:11852342 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000538018]|Neural tube defects, folate-sensitive [RCV004568822] Chr1:11794823 [GRCh38]
Chr1:11854880 [GRCh37]
Chr1:1p36.22		 pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_005957.5(MTHFR):c.236+1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000416674]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005008150]|not provided [RCV002265687] Chr1:11802880 [GRCh38]
Chr1:11862937 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|not provided
NM_005957.5(MTHFR):c.662del (p.Gly221fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000416691] Chr1:11796324 [GRCh38]
Chr1:11856381 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000416816]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002503824]|Neural tube defects, folate-sensitive [RCV003468969] Chr1:11801220 [GRCh38]
Chr1:11861277 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.1593del (p.Lys531fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000416933] Chr1:11792317 [GRCh38]
Chr1:11852374 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000416935] Chr1:11796382 [GRCh38]
Chr1:11856439 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000416797] Chr1:11794862 [GRCh38]
Chr1:11854919 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 copy number loss See cases [RCV000510444] Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
NM_005957.5(MTHFR):c.1365G>A (p.Trp455Ter) single nucleotide variant not provided [RCV000523084] Chr1:11794072 [GRCh38]
Chr1:11854129 [GRCh37]
Chr1:1p36.22		 likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3 copy number gain See cases [RCV000510407] Chr1:11143298..13709344 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003387439]|not specified [RCV000508460] Chr1:11796213 [GRCh38]
Chr1:11856270 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp) single nucleotide variant not specified [RCV000507518] Chr1:11791274 [GRCh38]
Chr1:11851331 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_005957.5(MTHFR):c.426G>T (p.Leu142=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002062084]|not provided [RCV000594264] Chr1:11801210 [GRCh38]
Chr1:11861267 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000642249]|MTHFR-related disorder [RCV003965363] Chr1:11790719 [GRCh38]
Chr1:11850776 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.1823T>A (p.Ile608Asn) single nucleotide variant Inborn genetic diseases [RCV003297638] Chr1:11790828 [GRCh38]
Chr1:11850885 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1305= (p.Phe435=) single nucleotide variant not specified [RCV000609038] Chr1:11794400 [GRCh38]
Chr1:11854457 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000558638] Chr1:11791292 [GRCh38]
Chr1:11851349 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 copy number loss See cases [RCV000512501] Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
NM_005957.5(MTHFR):c.1167-5G>T single nucleotide variant not specified [RCV000605209] Chr1:11794543 [GRCh38]
Chr1:11854600 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000625848]|Neural tube defects, folate-sensitive [RCV003465361] Chr1:11802963 [GRCh38]
Chr1:11863020 [GRCh37]
Chr1:1p36.22		 pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13		 likely pathogenic
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002265818]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005004264]|not provided [RCV000594799] Chr1:11803114 [GRCh38]
Chr1:11863171 [GRCh37]
Chr1:1p36.22		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000642248]|Thrombophilia due to thrombin defect [RCV005420222] Chr1:11796286 [GRCh38]
Chr1:11856343 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000642250]|Inborn genetic diseases [RCV002388087]|not provided [RCV002275127]|not specified [RCV001700433] Chr1:11793961 [GRCh38]
Chr1:11854018 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.1267dup (p.Glu423fs) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000721980] Chr1:11794437..11794438 [GRCh38]
Chr1:11854494..11854495 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002570507]|Intellectual disability [RCV001252321]|Neural tube defects, folate-sensitive [RCV003462833] Chr1:11790681 [GRCh38]
Chr1:11850738 [GRCh37]
Chr1:1p36.22		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001808302]|Neural tube defects, folate-sensitive [RCV003464148] Chr1:11801290 [GRCh38]
Chr1:11861347 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000702419]|not provided [RCV003313135] Chr1:11794442 [GRCh38]
Chr1:11854499 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000693573]|MTHFR-related disorder [RCV003411613] Chr1:11801306 [GRCh38]
Chr1:11861363 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000690846]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002477553]|Neural tube defects, folate-sensitive [RCV003459684]|not provided [RCV002245591] Chr1:11802962 [GRCh38]
Chr1:11863019 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000692160] Chr1:11801388 [GRCh38]
Chr1:11861445 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22(chr1:11831595-12128498)x3 copy number gain not provided [RCV000736406] Chr1:11831595..12128498 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1068G>A (p.Lys356=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000893574] Chr1:11794827 [GRCh38]
Chr1:11854884 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000861739]|MTHFR-related disorder [RCV003918328]|not provided [RCV005231404] Chr1:11800285 [GRCh38]
Chr1:11860342 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000861927]|Inborn genetic diseases [RCV002381911]|MTHFR-related disorder [RCV003975378] Chr1:11796254 [GRCh38]
Chr1:11856311 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.237-2A>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001065420] Chr1:11801401 [GRCh38]
Chr1:11861458 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001067667] Chr1:11801254 [GRCh38]
Chr1:11861311 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1632+225G>A single nucleotide variant not provided [RCV001665113] Chr1:11792053 [GRCh38]
Chr1:11852110 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000866330] Chr1:11796260 [GRCh38]
Chr1:11856317 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.654G>A (p.Val218=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000866465] Chr1:11796332 [GRCh38]
Chr1:11856389 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1411C>T (p.Leu471=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000868283] Chr1:11794026 [GRCh38]
Chr1:11854083 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000866468]|Inborn genetic diseases [RCV004958198]|MTHFR-related disorder [RCV003938276] Chr1:11794424 [GRCh38]
Chr1:11854481 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-8C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000865284] Chr1:11791334 [GRCh38]
Chr1:11851391 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1146C>T (p.Asp382=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001428174]|Inborn genetic diseases [RCV004958203] Chr1:11794749 [GRCh38]
Chr1:11854806 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.885C>G (p.Arg295=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000905666] Chr1:11795244 [GRCh38]
Chr1:11855301 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000863750]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002478959]|Intellectual disability [RCV001252319]|MTHFR-related disorder [RCV003938250]|not provided [RCV001579355] Chr1:11792355 [GRCh38]
Chr1:11852412 [GRCh37]
Chr1:1p36.22		 benign|likely benign|uncertain significance
NM_005957.5(MTHFR):c.1401G>A (p.Leu467=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001457373]|MTHFR-related disorder [RCV003895697] Chr1:11794036 [GRCh38]
Chr1:11854093 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.453G>A (p.Lys151=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001466688] Chr1:11801183 [GRCh38]
Chr1:11861240 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1308T>C (p.Val436=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000944261] Chr1:11794397 [GRCh38]
Chr1:11854454 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.236+9A>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002066003] Chr1:11802872 [GRCh38]
Chr1:11862929 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.465G>T (p.Ala155=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000867127]|Inborn genetic diseases [RCV002336788]|MTHFR-related disorder [RCV004754588] Chr1:11801171 [GRCh38]
Chr1:11861228 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-7T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000942001]|MTHFR-related disorder [RCV004754642] Chr1:11796406 [GRCh38]
Chr1:11856463 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000867997] Chr1:11791318 [GRCh38]
Chr1:11851375 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1941C>A (p.Thr647=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000864458] Chr1:11790710 [GRCh38]
Chr1:11850767 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000868936] Chr1:11795127 [GRCh38]
Chr1:11855184 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000863796]|MTHFR-related disorder [RCV003955608]|not provided [RCV001700315] Chr1:11794441 [GRCh38]
Chr1:11854498 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000866052]|Inborn genetic diseases [RCV002372424] Chr1:11795226 [GRCh38]
Chr1:11855283 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.918C>T (p.Cys306=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000945826] Chr1:11795211 [GRCh38]
Chr1:11855268 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1011del (p.Met338fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001055526] Chr1:11795118 [GRCh38]
Chr1:11855175 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.863_864del (p.Lys288fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001055646] Chr1:11795265..11795266 [GRCh38]
Chr1:11855322..11855323 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1788A>G (p.Gly596=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000914384] Chr1:11790863 [GRCh38]
Chr1:11850920 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3 copy number gain See cases [RCV000790593] Chr1:11794553..12786444 [GRCh37]
Chr1:1p36.22-36.21		 pathogenic
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000809330]|Inborn genetic diseases [RCV002381796] Chr1:11794385 [GRCh38]
Chr1:11854442 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000864165] Chr1:11803027 [GRCh38]
Chr1:11863084 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1918T>C (p.Leu640=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000929682] Chr1:11790733 [GRCh38]
Chr1:11850790 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1815C>T (p.Ser605=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000893265] Chr1:11790836 [GRCh38]
Chr1:11850893 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-9C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000861774] Chr1:11801408 [GRCh38]
Chr1:11861465 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1596C>T (p.Tyr532=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001440471] Chr1:11792314 [GRCh38]
Chr1:11852371 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1539A>G (p.Leu513=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001501463] Chr1:11792371 [GRCh38]
Chr1:11852428 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000978126] Chr1:11790819 [GRCh38]
Chr1:11850876 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 copy number loss not provided [RCV001005065] Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000813708]|Neural tube defects, folate-sensitive [RCV003461217] Chr1:11795116 [GRCh38]
Chr1:11855173 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.145A>G (p.Met49Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000822910] Chr1:11802972 [GRCh38]
Chr1:11863029 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000817838]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005012368]|Neural tube defects, folate-sensitive [RCV003461249]|not provided [RCV001543555] Chr1:11791260 [GRCh38]
Chr1:11851317 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000818289] Chr1:11795115 [GRCh38]
Chr1:11855172 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000811650]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002487768] Chr1:11791239 [GRCh38]
Chr1:11851296 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 copy number loss not provided [RCV000846372] Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001454672]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002481761]|Inborn genetic diseases [RCV002382228] Chr1:11794066 [GRCh38]
Chr1:11854123 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000791536]|Neural tube defects, folate-sensitive [RCV003461066]|not provided [RCV005092381] Chr1:11794029 [GRCh38]
Chr1:11854086 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000985005]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005012406]|Neural tube defects, folate-sensitive [RCV003461295] Chr1:11796306 [GRCh38]
Chr1:11856363 [GRCh37]
Chr1:1p36.22		 pathogenic|conflicting interpretations of pathogenicity
NM_005957.5(MTHFR):c.236+9A>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001405629] Chr1:11802872 [GRCh38]
Chr1:11862929 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.171C>T (p.Asp57=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000943007] Chr1:11802946 [GRCh38]
Chr1:11863003 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000810485]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005012348]|Neural tube defects, folate-sensitive [RCV003461196]|not provided [RCV005054269] Chr1:11794765 [GRCh38]
Chr1:11854822 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000794290] Chr1:11794778 [GRCh38]
Chr1:11854835 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000860942]|Inborn genetic diseases [RCV003169090]|MTHFR-related disorder [RCV003965630]|not provided [RCV003424380] Chr1:11791240 [GRCh38]
Chr1:11851297 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_005957.5(MTHFR):c.871G>A (p.Asp291Asn) single nucleotide variant Mendelian syndromes with cleft lip/palate [RCV003315090] Chr1:11795258 [GRCh38]
Chr1:11855315 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.762C>T (p.Pro254=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000862996]|MTHFR-related disorder [RCV003908185] Chr1:11796224 [GRCh38]
Chr1:11856281 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001028052] Chr1:11796210 [GRCh38]
Chr1:11856267 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22(chr1:11846836-12055790)x1 copy number loss not provided [RCV000847324] Chr1:11846836..12055790 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1462A>G (p.Ile488Val) single nucleotide variant not provided [RCV000993913] Chr1:11793975 [GRCh38]
Chr1:11854032 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.11:g.(?_11012634)_(11934865_?)del deletion Atrial fibrillation, familial, 6 [RCV001031444] Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001250076] Chr1:11794372 [GRCh38]
Chr1:11854429 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.277G>A (p.Val93Met) single nucleotide variant not provided [RCV003126347] Chr1:11801359 [GRCh38]
Chr1:11861416 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.-13-91C>T single nucleotide variant not provided [RCV001721905] Chr1:11803220 [GRCh38]
Chr1:11863277 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1031+117G>A single nucleotide variant not provided [RCV001721906] Chr1:11794981 [GRCh38]
Chr1:11855038 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1752+79G>A single nucleotide variant not provided [RCV001615513] Chr1:11791128 [GRCh38]
Chr1:11851185 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1753-48C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003387443]|not provided [RCV001608345] Chr1:11790946 [GRCh38]
Chr1:11851003 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.476-76G>A single nucleotide variant not provided [RCV001612507] Chr1:11800398 [GRCh38]
Chr1:11860455 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.780+179C>T single nucleotide variant not provided [RCV001620206] Chr1:11796027 [GRCh38]
Chr1:11856084 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.476-304A>G single nucleotide variant not provided [RCV001657135] Chr1:11800626 [GRCh38]
Chr1:11860683 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1166+31C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001532834]|not provided [RCV001685442]|not specified [RCV001796912] Chr1:11794698 [GRCh38]
Chr1:11854755 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.236+160T>C single nucleotide variant not provided [RCV001635596] Chr1:11802721 [GRCh38]
Chr1:11862778 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000865856]|Inborn genetic diseases [RCV002399891] Chr1:11792284 [GRCh38]
Chr1:11852341 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.909G>A (p.Val303=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001431046] Chr1:11795220 [GRCh38]
Chr1:11855277 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV000862385]|Inborn genetic diseases [RCV002345947] Chr1:11800276 [GRCh38]
Chr1:11860333 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1887C>T (p.Asp629=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001398479] Chr1:11790764 [GRCh38]
Chr1:11850821 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1467C>T (p.Asn489=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001497991] Chr1:11793970 [GRCh38]
Chr1:11854027 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001085040]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005392605]|MTHFR-related disorder [RCV003972965]|not provided [RCV005256509] Chr1:11794029 [GRCh38]
Chr1:11854086 [GRCh37]
Chr1:1p36.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs) insertion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001244294]|Neural tube defects, folate-sensitive [RCV003469468] Chr1:11795261..11795262 [GRCh38]
Chr1:11855318..11855319 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.-13-304G>A single nucleotide variant not provided [RCV001200068] Chr1:11803433 [GRCh38]
Chr1:11863490 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001243849] Chr1:11801396 [GRCh38]
Chr1:11861453 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001209248] Chr1:11795101 [GRCh38]
Chr1:11855158 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001236475]|Neural tube defects, folate-sensitive [RCV000986238] Chr1:11802884 [GRCh38]
Chr1:11862941 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1368C>T (p.Asn456=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001481866] Chr1:11794069 [GRCh38]
Chr1:11854126 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.714C>G (p.Arg238=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002857900] Chr1:11796272 [GRCh38]
Chr1:11856329 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1426C>T (p.Arg476Cys) single nucleotide variant not provided [RCV000993914] Chr1:11794011 [GRCh38]
Chr1:11854068 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.586+149A>G single nucleotide variant not provided [RCV001721899] Chr1:11800063 [GRCh38]
Chr1:11860120 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.199C>T (p.Pro67Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001264802] Chr1:11802918 [GRCh38]
Chr1:11862975 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1752+45G>A single nucleotide variant not provided [RCV001621666] Chr1:11791162 [GRCh38]
Chr1:11851219 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.236+170dup duplication not provided [RCV001721900] Chr1:11802707..11802708 [GRCh38]
Chr1:11862764..11862765 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.586+152T>C single nucleotide variant not provided [RCV001721901] Chr1:11800060 [GRCh38]
Chr1:11860117 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1009G>A (p.Gly337Arg) single nucleotide variant Intellectual disability [RCV001252320] Chr1:11795120 [GRCh38]
Chr1:11855177 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.475+1G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001253140]|Neural tube defects, folate-sensitive [RCV003462834] Chr1:11801160 [GRCh38]
Chr1:11861217 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1752+146T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001532809]|not provided [RCV001720304] Chr1:11791061 [GRCh38]
Chr1:11851118 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1632+94G>C single nucleotide variant not provided [RCV001611734] Chr1:11792184 [GRCh38]
Chr1:11852241 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.476-79G>A single nucleotide variant not provided [RCV001537313] Chr1:11800401 [GRCh38]
Chr1:11860458 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001206455] Chr1:11796334 [GRCh38]
Chr1:11856391 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001052871]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002505603]|Neural tube defects, folate-sensitive [RCV003462555]|See cases [RCV002252303]|not provided [RCV003222205] Chr1:11792368..11792369 [GRCh38]
Chr1:11852425..11852426 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.465G>A (p.Ala155=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001460332]|not provided [RCV001200067] Chr1:11801171 [GRCh38]
Chr1:11861228 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.446_447delinsTT (p.Gly149Val) indel Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001052251] Chr1:11801189..11801190 [GRCh38]
Chr1:11861246..11861247 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001196887]|Inborn genetic diseases [RCV003293987] Chr1:11792339 [GRCh38]
Chr1:11852396 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001786456]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005012694]|Intellectual disability [RCV001252318]|Neural tube defects, folate-sensitive [RCV003469485]|Thrombophilia due to thrombin defect [RCV005420385] Chr1:11795156 [GRCh38]
Chr1:11855213 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001260224] Chr1:11800322 [GRCh38]
Chr1:11860379 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del) microsatellite Global developmental delay [RCV001261544] Chr1:11792317..11792319 [GRCh38]
Chr1:11852374..11852376 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003770337]|Neural tube defects, folate-sensitive [RCV003462838]|Rare genetic intellectual disability [RCV001257010] Chr1:11791248 [GRCh38]
Chr1:11851305 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.357C>G (p.Tyr119Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001331500] Chr1:11801279 [GRCh38]
Chr1:11861336 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001290317]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002499515]|Neural tube defects, folate-sensitive [RCV003462851]|not provided [RCV005367813] Chr1:11801177 [GRCh38]
Chr1:11861234 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) single nucleotide variant Global developmental delay [RCV001261545]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003132225] Chr1:11793920 [GRCh38]
Chr1:11853977 [GRCh37]
Chr1:1p36.22		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.552del (p.Ser184fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001336892] Chr1:11800246 [GRCh38]
Chr1:11860303 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001331499] Chr1:11792289 [GRCh38]
Chr1:11852346 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.69T>C (p.Ser23=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001397374] Chr1:11803048 [GRCh38]
Chr1:11863105 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001353257]|Neural tube defects, folate-sensitive [RCV004570861] Chr1:11800214 [GRCh38]
Chr1:11860271 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.602A>C (p.His201Pro) single nucleotide variant Generalized cerebral atrophy/hypoplasia [RCV001281375] Chr1:11796384 [GRCh38]
Chr1:11856441 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.57C>A (p.Ala19=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001422591] Chr1:11803060 [GRCh38]
Chr1:11863117 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1356C>T (p.Cys452=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001414551] Chr1:11794081 [GRCh38]
Chr1:11854138 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.18A>G (p.Arg6=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001433570] Chr1:11803099 [GRCh38]
Chr1:11863156 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.819G>A (p.Lys273=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001397008] Chr1:11795310 [GRCh38]
Chr1:11855367 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.345C>T (p.Thr115=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001415022] Chr1:11801291 [GRCh38]
Chr1:11861348 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.191del (p.Phe64fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001382595] Chr1:11802926 [GRCh38]
Chr1:11862983 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1062C>T (p.His354=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001397636]|Inborn genetic diseases [RCV003375281] Chr1:11794833 [GRCh38]
Chr1:11854890 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001301569] Chr1:11792288 [GRCh38]
Chr1:11852345 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001345868] Chr1:11802940 [GRCh38]
Chr1:11862997 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001324137]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005012774] Chr1:11794463..11794477 [GRCh38]
Chr1:11854520..11854534 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001346835] Chr1:11801236 [GRCh38]
Chr1:11861293 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1753-22_1753-3del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001346201] Chr1:11790901..11790920 [GRCh38]
Chr1:11850958..11850977 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001308833] Chr1:11801371 [GRCh38]
Chr1:11861428 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1166+5G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001300805]|Neural tube defects, folate-sensitive [RCV003462865] Chr1:11794724 [GRCh38]
Chr1:11854781 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.1155T>C (p.Pro385=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001421507] Chr1:11794740 [GRCh38]
Chr1:11854797 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1416G>T (p.Leu472=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001394801] Chr1:11794021 [GRCh38]
Chr1:11854078 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1668G>A (p.Pro556=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001394816] Chr1:11791291 [GRCh38]
Chr1:11851348 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002069439] Chr1:11801167 [GRCh38]
Chr1:11861224 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.345C>A (p.Thr115=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001413418] Chr1:11801291 [GRCh38]
Chr1:11861348 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.906C>T (p.Ala302=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001412774] Chr1:11795223 [GRCh38]
Chr1:11855280 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1839C>T (p.His613=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001395860]|Inborn genetic diseases [RCV002413936] Chr1:11790812 [GRCh38]
Chr1:11850869 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val) single nucleotide variant Autism [RCV004698543]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001316295] Chr1:11795347 [GRCh38]
Chr1:11855404 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.236+8C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001395073] Chr1:11802873 [GRCh38]
Chr1:11862930 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001386292] Chr1:11791211 [GRCh38]
Chr1:11851268 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1674T>C (p.Ala558=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001413081] Chr1:11791285 [GRCh38]
Chr1:11851342 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001380126]|Neural tube defects, folate-sensitive [RCV003462963]|not provided [RCV002305606] Chr1:11802915 [GRCh38]
Chr1:11862972 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1114_1115del (p.Lys372fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001380179] Chr1:11794780..11794781 [GRCh38]
Chr1:11854837..11854838 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1698G>A (p.Gly566=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001394322] Chr1:11791261 [GRCh38]
Chr1:11851318 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1968A>G (p.Pro656=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001404955] Chr1:11790683 [GRCh38]
Chr1:11850740 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.376C>T (p.Leu126=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001454094] Chr1:11801260 [GRCh38]
Chr1:11861317 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1668G>T (p.Pro556=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001492486] Chr1:11791291 [GRCh38]
Chr1:11851348 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.913C>T (p.Leu305=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001482174] Chr1:11795216 [GRCh38]
Chr1:11855273 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.756C>T (p.Ile252=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001473883]|Inborn genetic diseases [RCV002396119] Chr1:11796230 [GRCh38]
Chr1:11856287 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-4G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001497004] Chr1:11790902 [GRCh38]
Chr1:11850959 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1875C>T (p.Asp625=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001482715] Chr1:11790776 [GRCh38]
Chr1:11850833 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.417G>C (p.Thr139=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001455892] Chr1:11801219 [GRCh38]
Chr1:11861276 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.476-8C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001471779] Chr1:11800330 [GRCh38]
Chr1:11860387 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.315G>A (p.Lys105=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001470310] Chr1:11801321 [GRCh38]
Chr1:11861378 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1059C>T (p.Ala353=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001440040] Chr1:11794836 [GRCh38]
Chr1:11854893 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1455G>A (p.Gln485=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001489582] Chr1:11793982 [GRCh38]
Chr1:11854039 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1083T>C (p.Asp361=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001434706]|Inborn genetic diseases [RCV003160743] Chr1:11794812 [GRCh38]
Chr1:11854869 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.336C>T (p.Ile112=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001491919] Chr1:11801300 [GRCh38]
Chr1:11861357 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1770G>A (p.Leu590=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001453808] Chr1:11790881 [GRCh38]
Chr1:11850938 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.417G>T (p.Thr139=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001393655] Chr1:11801219 [GRCh38]
Chr1:11861276 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1593G>A (p.Lys531=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001472614] Chr1:11792317 [GRCh38]
Chr1:11852374 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1755C>T (p.Asp585=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001474838] Chr1:11790896 [GRCh38]
Chr1:11850953 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+35G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001523552]|not provided [RCV001673107] Chr1:11792243 [GRCh38]
Chr1:11852300 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.318G>A (p.Glu106=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001477573] Chr1:11801318 [GRCh38]
Chr1:11861375 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-1332C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001518448] Chr1:11797731 [GRCh38]
Chr1:11857788 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.681G>C (p.Thr227=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001469083] Chr1:11796305 [GRCh38]
Chr1:11856362 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+8A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001469203] Chr1:11793899 [GRCh38]
Chr1:11853956 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.606C>T (p.Pro202=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001454111] Chr1:11796380 [GRCh38]
Chr1:11856437 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001377364]|Neural tube defects, folate-sensitive [RCV003469502] Chr1:11794825 [GRCh38]
Chr1:11854882 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1530+8A>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001435729] Chr1:11793899 [GRCh38]
Chr1:11853956 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-7C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001419925] Chr1:11791333 [GRCh38]
Chr1:11851390 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1734C>G (p.Val578=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001437343] Chr1:11791225 [GRCh38]
Chr1:11851282 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.997C>T (p.Leu333=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001405007] Chr1:11795132 [GRCh38]
Chr1:11855189 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1248G>A (p.Glu416=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001435756] Chr1:11794457 [GRCh38]
Chr1:11854514 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.954C>T (p.Leu318=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001444206]|not provided [RCV004711632] Chr1:11795175 [GRCh38]
Chr1:11855232 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.675C>T (p.Ile225=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001410215] Chr1:11796311 [GRCh38]
Chr1:11856368 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.843G>A (p.Lys281=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001425959] Chr1:11795286 [GRCh38]
Chr1:11855343 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1167-76G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001532833]|not provided [RCV001619944]|not specified [RCV001796911] Chr1:11794614 [GRCh38]
Chr1:11794614..11794615 [GRCh38]
Chr1:11854671 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_005957.5(MTHFR):c.1344C>T (p.His448=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001441835] Chr1:11794361 [GRCh38]
Chr1:11854418 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.198T>A (p.Pro66=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001405339] Chr1:11802919 [GRCh38]
Chr1:11862976 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.456C>T (p.Asn152=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001447292] Chr1:11801180 [GRCh38]
Chr1:11861237 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1304_1305del (p.Phe435fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001385434] Chr1:11794400..11794401 [GRCh38]
Chr1:11854457..11854458 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.957C>T (p.His319=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001437915] Chr1:11795172 [GRCh38]
Chr1:11855229 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1722A>T (p.Val574=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001411215]|Inborn genetic diseases [RCV003160641] Chr1:11791237 [GRCh38]
Chr1:11851294 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.9C>T (p.Asn3=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001434995] Chr1:11803108 [GRCh38]
Chr1:11863165 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-9C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001406013] Chr1:11792388 [GRCh38]
Chr1:11852445 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.681G>A (p.Thr227=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001411243] Chr1:11796305 [GRCh38]
Chr1:11856362 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1362C>G (p.Pro454=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001406627] Chr1:11794075 [GRCh38]
Chr1:11854132 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.157T>C (p.Leu53=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001419715] Chr1:11802960 [GRCh38]
Chr1:11863017 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1857C>T (p.Val619=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001457525] Chr1:11790794 [GRCh38]
Chr1:11850851 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.615G>A (p.Gly205=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001493745] Chr1:11796371 [GRCh38]
Chr1:11856428 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1440C>T (p.Leu480=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001461371] Chr1:11793997 [GRCh38]
Chr1:11854054 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1566G>A (p.Ala522=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001461373] Chr1:11792344 [GRCh38]
Chr1:11852401 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1348-4C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001498934] Chr1:11794093 [GRCh38]
Chr1:11854150 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.735C>T (p.Asp245=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001451062] Chr1:11796251 [GRCh38]
Chr1:11856308 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1251G>A (p.Leu417=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001458166] Chr1:11794454 [GRCh38]
Chr1:11854511 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.87T>C (p.Ser29=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001454782] Chr1:11803030 [GRCh38]
Chr1:11863087 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.603C>T (p.His201=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001506785] Chr1:11796383 [GRCh38]
Chr1:11856440 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.969C>T (p.Leu323=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001499576] Chr1:11795160 [GRCh38]
Chr1:11855217 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.43T>C (p.Leu15=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001458071] Chr1:11803074 [GRCh38]
Chr1:11863131 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1677C>T (p.Val559=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001469564] Chr1:11791282 [GRCh38]
Chr1:11851339 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1950G>A (p.Ala650=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001486802] Chr1:11790701 [GRCh38]
Chr1:11850758 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1026C>T (p.Asp342=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001476730] Chr1:11795103 [GRCh38]
Chr1:11855160 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.765G>A (p.Gly255=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001459814] Chr1:11796221 [GRCh38]
Chr1:11856278 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-5G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001500877] Chr1:11795353 [GRCh38]
Chr1:11855410 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-80G>A single nucleotide variant not provided [RCV001619153] Chr1:11792459 [GRCh38]
Chr1:11852516 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.534G>A (p.Leu178=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001405450] Chr1:11800264 [GRCh38]
Chr1:11860321 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.11:g.11806126C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001522805]|not provided [RCV004714251] Chr1:11806126 [GRCh38]
Chr1:11866183 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1158C>T (p.Asn386=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001504543]|MTHFR-related disorder [RCV003966039] Chr1:11794737 [GRCh38]
Chr1:11854794 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1182C>A (p.Ser394=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001437822] Chr1:11794523 [GRCh38]
Chr1:11854580 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1144del (p.Asp382fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001386742] Chr1:11794751 [GRCh38]
Chr1:11854808 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1482C>T (p.Ser494=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001487508] Chr1:11793955 [GRCh38]
Chr1:11854012 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1947T>C (p.Asn649=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001487841] Chr1:11790704 [GRCh38]
Chr1:11850761 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.402C>A (p.Arg134=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001458536] Chr1:11801234 [GRCh38]
Chr1:11861291 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.282C>T (p.Thr94=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001491101] Chr1:11801354 [GRCh38]
Chr1:11861411 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1806G>A (p.Glu602=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001451323] Chr1:11790845 [GRCh38]
Chr1:11850902 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1836C>T (p.Ile612=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001455667] Chr1:11790815 [GRCh38]
Chr1:11850872 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.531C>T (p.Asp177=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001464574] Chr1:11800267 [GRCh38]
Chr1:11860324 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1902G>A (p.Gln634=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001484820] Chr1:11790749 [GRCh38]
Chr1:11850806 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.846C>T (p.Asp282=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001471430] Chr1:11795283 [GRCh38]
Chr1:11855340 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1731C>T (p.Pro577=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001479017] Chr1:11791228 [GRCh38]
Chr1:11851285 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1491C>T (p.Ile497=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001499256] Chr1:11793946 [GRCh38]
Chr1:11854003 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.828G>A (p.Val276=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001483534] Chr1:11795301 [GRCh38]
Chr1:11855358 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.444G>T (p.Leu148=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001466312] Chr1:11801192 [GRCh38]
Chr1:11861249 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.264C>T (p.Pro88=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001467887] Chr1:11801372 [GRCh38]
Chr1:11861429 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001420163]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004796633]|Neural tube defects, folate-sensitive [RCV003463041] Chr1:11794389 [GRCh38]
Chr1:11854446 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1063_1075del (p.Pro355fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001385897] Chr1:11794820..11794832 [GRCh38]
Chr1:11854877..11854889 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001377363]|Neural tube defects, folate-sensitive [RCV003462949] Chr1:11791209 [GRCh38]
Chr1:11851266 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.474A>T (p.Gly158=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001377365]|Neural tube defects, folate-sensitive [RCV003462950]|not provided [RCV005005224] Chr1:11801162 [GRCh38]
Chr1:11861219 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1008G>A (p.Leu336=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001484032] Chr1:11795121 [GRCh38]
Chr1:11855178 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.476-86G>C single nucleotide variant not provided [RCV001732703] Chr1:11800408 [GRCh38]
Chr1:11860465 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.401G>A (p.Arg134His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003108396] Chr1:11801235 [GRCh38]
Chr1:11861292 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.476-305C>T single nucleotide variant not provided [RCV001732696] Chr1:11800627 [GRCh38]
Chr1:11860684 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.907G>A (p.Val303Met) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002540322]|not provided [RCV001763197] Chr1:11795222 [GRCh38]
Chr1:11855279 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003104214]|not provided [RCV003313312] Chr1:11803081 [GRCh38]
Chr1:11863138 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.82G>A (p.Asp28Asn) single nucleotide variant not provided [RCV001758102] Chr1:11803035 [GRCh38]
Chr1:11863092 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.237-208C>T single nucleotide variant not provided [RCV001800060] Chr1:11801607 [GRCh38]
Chr1:11861664 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001782466] Chr1:11794435 [GRCh38]
Chr1:11854492 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1530+284C>T single nucleotide variant not provided [RCV001794642] Chr1:11793623 [GRCh38]
Chr1:11853680 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.526_529delinsCCAGGGAGGCTTC (p.Val176_Asp177delinsProGlyArgLeuHis) indel not provided [RCV001757825] Chr1:11800269..11800272 [GRCh38]
Chr1:11860326..11860329 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001808247] Chr1:11790858 [GRCh38]
Chr1:11850915 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NC_000001.10:g.(?_11850365)_(11851393_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001983029] Chr1:11850365..11851393 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001915025] Chr1:11794030 [GRCh38]
Chr1:11854087 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.321C>T (p.Thr107=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001911591]|Inborn genetic diseases [RCV002324297] Chr1:11801315 [GRCh38]
Chr1:11861372 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001928313] Chr1:11795332 [GRCh38]
Chr1:11855389 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) single nucleotide variant Vascular dementia [RCV002051761] Chr1:11795191 [GRCh38]
Chr1:11855248 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001874712] Chr1:11794477 [GRCh38]
Chr1:11854534 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11850365)_(11852446_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001970201] Chr1:11850365..11852446 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002025519]|Inborn genetic diseases [RCV004046079] Chr1:11795261 [GRCh38]
Chr1:11855318 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1712del (p.Gln571fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001864382] Chr1:11791247 [GRCh38]
Chr1:11851304 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1032-12_1038del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002042950] Chr1:11794857..11794875 [GRCh38]
Chr1:11854914..11854932 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001838859] Chr1:11801299 [GRCh38]
Chr1:11861356 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.860_863del (p.Ile287fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001985163] Chr1:11795266..11795269 [GRCh38]
Chr1:11855323..11855326 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001947633] Chr1:11802955 [GRCh38]
Chr1:11863012 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001909020]|Inborn genetic diseases [RCV004042577] Chr1:11800223 [GRCh38]
Chr1:11860280 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001985134]|Neural tube defects, folate-sensitive [RCV003471099] Chr1:11800275 [GRCh38]
Chr1:11860332 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001984100] Chr1:11794429..11794430 [GRCh38]
Chr1:11854486..11854487 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001983306] Chr1:11796379 [GRCh38]
Chr1:11856436 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002021466] Chr1:11793908 [GRCh38]
Chr1:11853965 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1852del (p.Leu618fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001946672] Chr1:11790799 [GRCh38]
Chr1:11850856 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001837369] Chr1:11790891 [GRCh38]
Chr1:11850948 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.783C>G (p.Gly261=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002020124]|Inborn genetic diseases [RCV004046031] Chr1:11795346 [GRCh38]
Chr1:11855403 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.273dup (p.Asp92fs) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001999849]|Neural tube defects, folate-sensitive [RCV003471132] Chr1:11801362..11801363 [GRCh38]
Chr1:11861419..11861420 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001982562] Chr1:11796397 [GRCh38]
Chr1:11856454 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002048427] Chr1:11796310 [GRCh38]
Chr1:11856367 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001963017] Chr1:11801185 [GRCh38]
Chr1:11861242 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001999864]|Neural tube defects, folate-sensitive [RCV004571709] Chr1:11794826 [GRCh38]
Chr1:11854883 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001941557] Chr1:11800303 [GRCh38]
Chr1:11860360 [GRCh37]
Chr1:1p36.22		 pathogenic
NC_000001.10:g.(?_11850365)_(11856466_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001963190] Chr1:11850365..11856466 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1121dup (p.Tyr374Ter) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001993395] Chr1:11794773..11794774 [GRCh38]
Chr1:11854830..11854831 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.476-9A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002015004] Chr1:11800331 [GRCh38]
Chr1:11860388 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11850365)_(11866183_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001956440] Chr1:11850365..11866183 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001935375] Chr1:11796231 [GRCh38]
Chr1:11856288 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001920885] Chr1:11790811 [GRCh38]
Chr1:11850868 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001953816]|not provided [RCV005253980] Chr1:11794443 [GRCh38]
Chr1:11854500 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.475+1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001995318] Chr1:11801160 [GRCh38]
Chr1:11861217 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001902902] Chr1:11794538 [GRCh38]
Chr1:11854595 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1691_1692insAAA (p.Phe564delinsLeuAsn) insertion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001917411] Chr1:11791267..11791268 [GRCh38]
Chr1:11851324..11851325 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22		 uncertain significance
NM_005957.5(MTHFR):c.476-1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002035641] Chr1:11800323 [GRCh38]
Chr1:11860380 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1557C>T (p.Arg519=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001917295] Chr1:11792353 [GRCh38]
Chr1:11852410 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1528A>G (p.Lys510Glu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002009895] Chr1:11793909 [GRCh38]
Chr1:11853966 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001980512] Chr1:11801167 [GRCh38]
Chr1:11861224 [GRCh37]
Chr1:1p36.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001935937]|Inborn genetic diseases [RCV005374895] Chr1:11795102 [GRCh38]
Chr1:11855159 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1230C>T (p.Ser410=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002034227] Chr1:11794475 [GRCh38]
Chr1:11854532 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001923959] Chr1:11801302 [GRCh38]
Chr1:11861359 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001939988] Chr1:11802940 [GRCh38]
Chr1:11862997 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1768del (p.Leu590fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001934845]|Neural tube defects, folate-sensitive [RCV003464183] Chr1:11790883 [GRCh38]
Chr1:11850940 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002031617] Chr1:11792339 [GRCh38]
Chr1:11852396 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1552del (p.Ser518fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001994550] Chr1:11792358 [GRCh38]
Chr1:11852415 [GRCh37]
Chr1:1p36.22		 pathogenic
NC_000001.10:g.(?_11850737)_(12569078_?)dup duplication not provided [RCV001877528] Chr1:11850737..12569078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV001958245]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002484748] Chr1:11802914 [GRCh38]
Chr1:11862971 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1752+11C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002076377] Chr1:11791196 [GRCh38]
Chr1:11851253 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1329A>C (p.Pro443=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002167906] Chr1:11794376 [GRCh38]
Chr1:11854433 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1458C>T (p.Pro486=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002089408] Chr1:11793979 [GRCh38]
Chr1:11854036 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.915G>C (p.Leu305=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002092384] Chr1:11795214 [GRCh38]
Chr1:11855271 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.390C>T (p.Cys130=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002207967]|Inborn genetic diseases [RCV002372875] Chr1:11801246 [GRCh38]
Chr1:11861303 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.891T>C (p.Tyr297=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002145719] Chr1:11795238 [GRCh38]
Chr1:11855295 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1611T>C (p.Asn537=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002086555] Chr1:11792299 [GRCh38]
Chr1:11852356 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.966C>T (p.Thr322=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002128942] Chr1:11795163 [GRCh38]
Chr1:11855220 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1500G>A (p.Trp500Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV004572080]|not provided [RCV002211073] Chr1:11793937 [GRCh38]
Chr1:11853994 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.225T>C (p.Asn75=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002147809] Chr1:11802892 [GRCh38]
Chr1:11862949 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1089T>A (p.Arg363=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002187324] Chr1:11794806 [GRCh38]
Chr1:11854863 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1348-11G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002189967] Chr1:11794100 [GRCh38]
Chr1:11854157 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1704G>A (p.Glu568=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002166652] Chr1:11791255 [GRCh38]
Chr1:11851312 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1348-5C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002189501] Chr1:11794094 [GRCh38]
Chr1:11854151 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1896C>T (p.Leu632=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002208081] Chr1:11790755 [GRCh38]
Chr1:11850812 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.651G>A (p.Lys217=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002206386] Chr1:11796335 [GRCh38]
Chr1:11856392 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.294A>T (p.Ala98=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002189946] Chr1:11801342 [GRCh38]
Chr1:11861399 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1557C>A (p.Arg519=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002074869] Chr1:11792353 [GRCh38]
Chr1:11852410 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1383G>A (p.Ala461=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002085207] Chr1:11794054 [GRCh38]
Chr1:11854111 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1752+12G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002087451] Chr1:11791195 [GRCh38]
Chr1:11851252 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1722A>G (p.Val574=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002071842] Chr1:11791237 [GRCh38]
Chr1:11851294 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1650T>C (p.Asn550=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002205652] Chr1:11791309 [GRCh38]
Chr1:11851366 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-18dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002133835] Chr1:11791343..11791344 [GRCh38]
Chr1:11851400..11851401 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.780+8G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002171786] Chr1:11796198 [GRCh38]
Chr1:11856255 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.183C>G (p.Ser61=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002080832] Chr1:11802934 [GRCh38]
Chr1:11862991 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-4C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002130924] Chr1:11794867 [GRCh38]
Chr1:11854924 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1065C>A (p.Pro355=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002093520] Chr1:11794830 [GRCh38]
Chr1:11854887 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1518T>C (p.Tyr506=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002149205] Chr1:11793919 [GRCh38]
Chr1:11853976 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.228C>T (p.Leu76=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002209890] Chr1:11802889 [GRCh38]
Chr1:11862946 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.666C>T (p.Ala222=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002174389] Chr1:11796320 [GRCh38]
Chr1:11856377 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1812G>A (p.Pro604=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002193983] Chr1:11790839 [GRCh38]
Chr1:11850896 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.810G>A (p.Lys270=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002213140] Chr1:11795319 [GRCh38]
Chr1:11855376 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-4A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002216065] Chr1:11801403 [GRCh38]
Chr1:11861460 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1953A>G (p.Arg651=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002127068] Chr1:11790698 [GRCh38]
Chr1:11850755 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-8T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002173406] Chr1:11792387 [GRCh38]
Chr1:11852444 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1266G>A (p.Gly422=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002195672] Chr1:11794439 [GRCh38]
Chr1:11854496 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.690C>T (p.Phe230=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002151579] Chr1:11796296 [GRCh38]
Chr1:11856353 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1470G>A (p.Gly490=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002095301] Chr1:11793967 [GRCh38]
Chr1:11854024 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.657T>G (p.Ser219=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002147365] Chr1:11796329 [GRCh38]
Chr1:11856386 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1113A>G (p.Pro371=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002152762] Chr1:11794782 [GRCh38]
Chr1:11854839 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.36C>T (p.Asn12=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002151804] Chr1:11803081 [GRCh38]
Chr1:11863138 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.288C>T (p.His96=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002144896] Chr1:11801348 [GRCh38]
Chr1:11861405 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.234A>G (p.Ser78=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002094945] Chr1:11802883 [GRCh38]
Chr1:11862940 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.606C>G (p.Pro202=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002132767] Chr1:11796380 [GRCh38]
Chr1:11856437 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.423T>C (p.His141=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002173363]|Inborn genetic diseases [RCV002331677] Chr1:11801213 [GRCh38]
Chr1:11861270 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.774C>T (p.Pro258=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002212953] Chr1:11796212 [GRCh38]
Chr1:11856269 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.120G>A (p.Glu40=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002119185] Chr1:11802997 [GRCh38]
Chr1:11863054 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.660G>A (p.Ala220=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002119009]|not provided [RCV003426348] Chr1:11796326 [GRCh38]
Chr1:11856383 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.789C>T (p.His263=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002081510] Chr1:11795340 [GRCh38]
Chr1:11855397 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.786C>T (p.Tyr262=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002100120] Chr1:11795343 [GRCh38]
Chr1:11855400 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1221C>T (p.Tyr407=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002198333] Chr1:11794484 [GRCh38]
Chr1:11854541 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1108A>C (p.Arg370=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002124119] Chr1:11794787 [GRCh38]
Chr1:11854844 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1970G>A (p.Ter657=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002154956] Chr1:11790681 [GRCh38]
Chr1:11850738 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-5C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002200653] Chr1:11792384 [GRCh38]
Chr1:11852441 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.448C>T (p.Leu150=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002160881] Chr1:11801188 [GRCh38]
Chr1:11861245 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1563A>G (p.Thr521=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002218941] Chr1:11792347 [GRCh38]
Chr1:11852404 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-10C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002143218] Chr1:11801409 [GRCh38]
Chr1:11861466 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1863G>C (p.Leu621=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002155129] Chr1:11790788 [GRCh38]
Chr1:11850845 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1596del (p.Lys531_Tyr532insTer) deletion See cases [RCV002252555] Chr1:11792314 [GRCh38]
Chr1:11852371 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.624G>A (p.Glu208=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002120768] Chr1:11796362 [GRCh38]
Chr1:11856419 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1680T>C (p.Thr560=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002184310] Chr1:11791279 [GRCh38]
Chr1:11851336 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1278C>G (p.Thr426=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002159295] Chr1:11794427 [GRCh38]
Chr1:11854484 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-12_1753-9dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002137451] Chr1:11790906..11790907 [GRCh38]
Chr1:11850963..11850964 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-10dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002158084] Chr1:11795357..11795358 [GRCh38]
Chr1:11855414..11855415 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.123G>T (p.Arg41=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002179462] Chr1:11802994 [GRCh38]
Chr1:11863051 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1347+20G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002117946] Chr1:11794338 [GRCh38]
Chr1:11854395 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1779G>A (p.Glu593=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002179554] Chr1:11790872 [GRCh38]
Chr1:11850929 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1449C>T (p.Asn483=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002082167] Chr1:11793988 [GRCh38]
Chr1:11854045 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-25TG[2] microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002200463]|MTHFR-related disorder [RCV003923517] Chr1:11790918..11790919 [GRCh38]
Chr1:11850975..11850976 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1197G>A (p.Glu399=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002100833] Chr1:11794508 [GRCh38]
Chr1:11854565 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.162A>G (p.Glu54=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002160524] Chr1:11802955 [GRCh38]
Chr1:11863012 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1188C>T (p.Ala396=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002124144] Chr1:11794517 [GRCh38]
Chr1:11854574 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.594C>G (p.Pro198=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002081238] Chr1:11796392 [GRCh38]
Chr1:11856449 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.236+15G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002161668] Chr1:11802866 [GRCh38]
Chr1:11862923 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1905G>A (p.Val635=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002202290] Chr1:11790746 [GRCh38]
Chr1:11850803 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.136C>A (p.Arg46=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002100720] Chr1:11802981 [GRCh38]
Chr1:11863038 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-7C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002181751]|not provided [RCV004711893] Chr1:11792386 [GRCh38]
Chr1:11852443 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.476-6C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002102757] Chr1:11800328 [GRCh38]
Chr1:11860385 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.10:g.(?_11847760)_(12066770_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003110970] Chr1:11847760..12066770 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_10753911)_(11854615_?)dup duplication not provided [RCV003113615] Chr1:10753911..11854615 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11850934)_(11852658_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003116466] Chr1:11850934..11852658 [GRCh37]
Chr1:1p36.22		 pathogenic
NC_000001.10:g.(?_10698999)_(11907741_?)dup duplication Atrial fibrillation, familial, 6 [RCV003116537] Chr1:10698999..11907741 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.587-12C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003112815] Chr1:11796411 [GRCh38]
Chr1:11856468 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003117884] Chr1:11791269 [GRCh38]
Chr1:11851326 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_9304994)_(12569078_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV003119499] Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003104929] Chr1:11795182 [GRCh38]
Chr1:11855239 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1249del (p.Leu417fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003153089] Chr1:11794456 [GRCh38]
Chr1:11854513 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002247150] Chr1:11791302 [GRCh38]
Chr1:11851359 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.649_651del (p.Lys217del) deletion See cases [RCV002252574] Chr1:11796335..11796337 [GRCh38]
Chr1:11856392..11856394 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1531-115C>A single nucleotide variant not provided [RCV002255201] Chr1:11792494 [GRCh38]
Chr1:11852551 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+49G>T single nucleotide variant not provided [RCV002275450] Chr1:11793858 [GRCh38]
Chr1:11853915 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+32C>T single nucleotide variant not provided [RCV002275814] Chr1:11792246 [GRCh38]
Chr1:11852303 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1129C>A (p.Arg377Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002284023] Chr1:11794766 [GRCh38]
Chr1:11854823 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002273025] Chr1:11790855 [GRCh38]
Chr1:11850912 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
NM_005957.5(MTHFR):c.1950G>C (p.Ala650=) single nucleotide variant Inborn genetic diseases [RCV002421540] Chr1:11790701 [GRCh38]
Chr1:11850758 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003097724]|Inborn genetic diseases [RCV004948675]|See cases [RCV002287658] Chr1:11794858 [GRCh38]
Chr1:11854915 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.713G>A (p.Arg238His) single nucleotide variant not provided [RCV003149417] Chr1:11796273 [GRCh38]
Chr1:11856330 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_005957.5(MTHFR):c.1348-1G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002510619]|Neural tube defects, folate-sensitive [RCV003465778] Chr1:11794090 [GRCh38]
Chr1:11854147 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.566A>G (p.Tyr189Cys) single nucleotide variant Inborn genetic diseases [RCV002859261] Chr1:11800232 [GRCh38]
Chr1:11860289 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002296127] Chr1:11790717 [GRCh38]
Chr1:11850774 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1497C>T (p.Gly499=) single nucleotide variant Inborn genetic diseases [RCV002389818] Chr1:11793940 [GRCh38]
Chr1:11853997 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003102140]|Inborn genetic diseases [RCV002431252] Chr1:11801365 [GRCh38]
Chr1:11861422 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1479C>G (p.Ser493=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635991]|Inborn genetic diseases [RCV002397078] Chr1:11793958 [GRCh38]
Chr1:11854015 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1811C>T (p.Pro604Leu) single nucleotide variant Inborn genetic diseases [RCV002410189] Chr1:11790840 [GRCh38]
Chr1:11850897 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.105G>A (p.Pro35=) single nucleotide variant Inborn genetic diseases [RCV002404046] Chr1:11803012 [GRCh38]
Chr1:11863069 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003103364]|Inborn genetic diseases [RCV002378340] Chr1:11796274 [GRCh38]
Chr1:11856331 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003102025]|Inborn genetic diseases [RCV002426327] Chr1:11801376 [GRCh38]
Chr1:11861433 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1753-26G>A single nucleotide variant not provided [RCV002511572] Chr1:11790924 [GRCh38]
Chr1:11850981 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002970992]|Inborn genetic diseases [RCV004948851] Chr1:11790765 [GRCh38]
Chr1:11850822 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.587-8A>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002971574] Chr1:11796407 [GRCh38]
Chr1:11856464 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003095698] Chr1:11803107 [GRCh38]
Chr1:11863164 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.324C>A (p.Ser108=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002991680] Chr1:11801312 [GRCh38]
Chr1:11861369 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-15G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002617869] Chr1:11790913 [GRCh38]
Chr1:11850970 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1417C>T (p.Arg473Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002974857] Chr1:11794020 [GRCh38]
Chr1:11854077 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.972C>T (p.Asn324=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002795001] Chr1:11795157 [GRCh38]
Chr1:11855214 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-11C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002947527] Chr1:11792390 [GRCh38]
Chr1:11852447 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.236+13A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003098958] Chr1:11802868 [GRCh38]
Chr1:11862925 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003097620] Chr1:11794822 [GRCh38]
Chr1:11854879 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002908662] Chr1:11794817 [GRCh38]
Chr1:11854874 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1502del (p.Gly501fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003017557] Chr1:11793935 [GRCh38]
Chr1:11853992 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003014412] Chr1:11794482 [GRCh38]
Chr1:11854539 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002618926] Chr1:11791311..11791313 [GRCh38]
Chr1:11851368..11851370 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.587-19C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002755346] Chr1:11796418 [GRCh38]
Chr1:11856475 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1167-7C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002726346] Chr1:11794545 [GRCh38]
Chr1:11854602 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1425C>T (p.Asn475=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002690384] Chr1:11794012 [GRCh38]
Chr1:11854069 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1347+16G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003076790] Chr1:11794342 [GRCh38]
Chr1:11854399 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1278C>T (p.Thr426=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002776213] Chr1:11794427 [GRCh38]
Chr1:11854484 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002816226] Chr1:11803100 [GRCh38]
Chr1:11863157 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile) indel Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003033727] Chr1:11794399..11794400 [GRCh38]
Chr1:11854456..11854457 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.348C>G (p.Ala116=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002842054] Chr1:11801288 [GRCh38]
Chr1:11861345 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002726973] Chr1:11796249 [GRCh38]
Chr1:11856306 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003073934] Chr1:11801242 [GRCh38]
Chr1:11861299 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1029C>T (p.Pro343=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002904484] Chr1:11795100 [GRCh38]
Chr1:11855157 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+18G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002756188] Chr1:11793889 [GRCh38]
Chr1:11853946 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1539dup (p.Glu514fs) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002908322] Chr1:11792370..11792371 [GRCh38]
Chr1:11852427..11852428 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1531-16C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003076681] Chr1:11792395 [GRCh38]
Chr1:11852452 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003038378] Chr1:11796261 [GRCh38]
Chr1:11856318 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.849G>A (p.Val283=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002952959] Chr1:11795280 [GRCh38]
Chr1:11855337 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1944G>A (p.Gln648=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002592749] Chr1:11790707 [GRCh38]
Chr1:11850764 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-11T>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003080455] Chr1:11794874 [GRCh38]
Chr1:11854931 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-3T>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002927050] Chr1:11790901 [GRCh38]
Chr1:11850958 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1023G>A (p.Glu341=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002797374] Chr1:11795106 [GRCh38]
Chr1:11855163 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.261C>T (p.Gly87=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003021672] Chr1:11801375 [GRCh38]
Chr1:11861432 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del) microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002867273] Chr1:11790845..11790847 [GRCh38]
Chr1:11850902..11850904 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1275G>A (p.Leu425=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003053788] Chr1:11794430 [GRCh38]
Chr1:11854487 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.48G>A (p.Glu16=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002885120] Chr1:11803069 [GRCh38]
Chr1:11863126 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003078768]|Inborn genetic diseases [RCV003250754] Chr1:11794371 [GRCh38]
Chr1:11854428 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003037434] Chr1:11790834 [GRCh38]
Chr1:11850891 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002912744] Chr1:11790871 [GRCh38]
Chr1:11850928 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.475+4T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002637794] Chr1:11801157 [GRCh38]
Chr1:11861214 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1633-10A>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002847006] Chr1:11791336 [GRCh38]
Chr1:11851393 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003021228] Chr1:11796279 [GRCh38]
Chr1:11856336 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1428C>T (p.Arg476=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002885566] Chr1:11794009 [GRCh38]
Chr1:11854066 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1833C>T (p.Tyr611=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003078001] Chr1:11790818 [GRCh38]
Chr1:11850875 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+9G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003077501] Chr1:11792269 [GRCh38]
Chr1:11852326 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-16G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002760192] Chr1:11790914 [GRCh38]
Chr1:11850971 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1235C>G (p.Ser412Cys) single nucleotide variant Inborn genetic diseases [RCV002848772] Chr1:11794470 [GRCh38]
Chr1:11854527 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1530+6G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002761513] Chr1:11793901 [GRCh38]
Chr1:11853958 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.586+18C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002639802] Chr1:11800194 [GRCh38]
Chr1:11860251 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1031+8C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002796915] Chr1:11795090 [GRCh38]
Chr1:11855147 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-7C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002923408] Chr1:11794870 [GRCh38]
Chr1:11854927 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1701A>G (p.Arg567=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002976554] Chr1:11791258 [GRCh38]
Chr1:11851315 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003058563] Chr1:11803016 [GRCh38]
Chr1:11863073 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002664032] Chr1:11795197 [GRCh38]
Chr1:11855254 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1633-15_1633-14delinsTT indel Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002958498] Chr1:11791340..11791341 [GRCh38]
Chr1:11851397..11851398 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.354C>T (p.Asn118=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002830068] Chr1:11801282 [GRCh38]
Chr1:11861339 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003025211] Chr1:11800227 [GRCh38]
Chr1:11860284 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002933069]|Neural tube defects, folate-sensitive [RCV003465867]|not provided [RCV004801255] Chr1:11795126 [GRCh38]
Chr1:11855183 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.138G>A (p.Arg46=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003059744] Chr1:11802979 [GRCh38]
Chr1:11863036 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.840C>T (p.Ile280=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002745612] Chr1:11795289 [GRCh38]
Chr1:11855346 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.421C>G (p.His141Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003024635] Chr1:11801215 [GRCh38]
Chr1:11861272 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1633-7C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002957292] Chr1:11791333 [GRCh38]
Chr1:11851390 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.638A>G (p.His213Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002957622] Chr1:11796348 [GRCh38]
Chr1:11856405 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.516C>T (p.Phe172=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003005215] Chr1:11800282 [GRCh38]
Chr1:11860339 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.779A>G (p.Gln260Arg) single nucleotide variant Inborn genetic diseases [RCV002954463] Chr1:11796207 [GRCh38]
Chr1:11856264 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002663842] Chr1:11795237 [GRCh38]
Chr1:11855294 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1347+9T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002919143] Chr1:11794349 [GRCh38]
Chr1:11854406 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.975C>T (p.Arg325=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002624721] Chr1:11795154 [GRCh38]
Chr1:11855211 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.576C>A (p.Ile192=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002982602] Chr1:11800222 [GRCh38]
Chr1:11860279 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.339C>T (p.Ala113=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002626653] Chr1:11801297 [GRCh38]
Chr1:11861354 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002663921] Chr1:11796327 [GRCh38]
Chr1:11856384 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.687T>C (p.Leu229=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002801842] Chr1:11796299 [GRCh38]
Chr1:11856356 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.151C>G (p.Arg51Gly) single nucleotide variant Inborn genetic diseases [RCV002892532] Chr1:11802966 [GRCh38]
Chr1:11863023 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003084701] Chr1:11792354 [GRCh38]
Chr1:11852411 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1632+15A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002711101] Chr1:11792263 [GRCh38]
Chr1:11852320 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1749_1752+7del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002851368] Chr1:11791200..11791210 [GRCh38]
Chr1:11851257..11851267 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002890818]|not provided [RCV004790269] Chr1:11794019 [GRCh38]
Chr1:11854076 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.-13-28_-13-12del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002790409] Chr1:11803141..11803157 [GRCh38]
Chr1:11863198..11863214 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.915G>T (p.Leu305=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002710135] Chr1:11795214 [GRCh38]
Chr1:11855271 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002602515] Chr1:11793962 [GRCh38]
Chr1:11854019 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003086756] Chr1:11794395 [GRCh38]
Chr1:11854452 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002630049]|not specified [RCV004700975] Chr1:11794735 [GRCh38]
Chr1:11854792 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.897C>T (p.Ile299=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003011503]|Inborn genetic diseases [RCV004068461] Chr1:11795232 [GRCh38]
Chr1:11855289 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-19C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002651253] Chr1:11790917 [GRCh38]
Chr1:11850974 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.804T>C (p.Leu268=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002811246] Chr1:11795325 [GRCh38]
Chr1:11855382 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003048912] Chr1:11791277 [GRCh38]
Chr1:11851334 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.2T>C (p.Met1Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002720888] Chr1:11803115 [GRCh38]
Chr1:11863172 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002807034] Chr1:11790704 [GRCh38]
Chr1:11850761 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.260G>T (p.Gly87Val) single nucleotide variant Inborn genetic diseases [RCV002808858] Chr1:11801376 [GRCh38]
Chr1:11861433 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003087509] Chr1:11795224 [GRCh38]
Chr1:11855281 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1542G>A (p.Glu514=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002806458] Chr1:11792368 [GRCh38]
Chr1:11852425 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val) indel Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002647482] Chr1:11796320..11796321 [GRCh38]
Chr1:11856377..11856378 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.11:g.11796400del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003045095] Chr1:11796399 [GRCh38]
Chr1:11856456 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.780+3G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002962665]|MTHFR-related disorder [RCV003963516] Chr1:11796203 [GRCh38]
Chr1:11856260 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1290T>C (p.Ser430=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003062991] Chr1:11794415 [GRCh38]
Chr1:11854472 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003089560]|Inborn genetic diseases [RCV003161758]|not specified [RCV005059153] Chr1:11790706 [GRCh38]
Chr1:11850763 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.236+10T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002856482] Chr1:11802871 [GRCh38]
Chr1:11862928 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1288A>G (p.Ser430Gly) single nucleotide variant Inborn genetic diseases [RCV002921450] Chr1:11794417 [GRCh38]
Chr1:11854474 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1530+1G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003026952]|Neural tube defects, folate-sensitive [RCV003465902] Chr1:11793906 [GRCh38]
Chr1:11853963 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1166+18T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003009542] Chr1:11794711 [GRCh38]
Chr1:11854768 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.717T>C (p.Phe239=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002648107] Chr1:11796269 [GRCh38]
Chr1:11856326 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1800G>T (p.Glu600Asp) single nucleotide variant Inborn genetic diseases [RCV003008589] Chr1:11790851 [GRCh38]
Chr1:11850908 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-16C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002598681] Chr1:11795364 [GRCh38]
Chr1:11855421 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002627735] Chr1:11795166 [GRCh38]
Chr1:11855223 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.408G>A (p.Glu136=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002646696] Chr1:11801228 [GRCh38]
Chr1:11861285 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003086024] Chr1:11796253 [GRCh38]
Chr1:11856310 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002630048]|not provided [RCV005425067] Chr1:11791244 [GRCh38]
Chr1:11851301 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002633333] Chr1:11803055 [GRCh38]
Chr1:11863112 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1531-12T>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003092604]|not provided [RCV004775293] Chr1:11792391 [GRCh38]
Chr1:11852448 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1633-5dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002654271] Chr1:11791330..11791331 [GRCh38]
Chr1:11851387..11851388 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1859A>G (p.Asn620Ser) single nucleotide variant Inborn genetic diseases [RCV002722407] Chr1:11790792 [GRCh38]
Chr1:11850849 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser) inversion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003051175] Chr1:11790846..11790847 [GRCh38]
Chr1:11850903..11850904 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1753-34_1753-19del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002603445] Chr1:11790917..11790932 [GRCh38]
Chr1:11850974..11850989 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.84T>C (p.Asp28=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002722066] Chr1:11803033 [GRCh38]
Chr1:11863090 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1866G>A (p.Val622=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002634071] Chr1:11790785 [GRCh38]
Chr1:11850842 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003049907] Chr1:11795131 [GRCh38]
Chr1:11855188 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002610149]|Inborn genetic diseases [RCV004654143] Chr1:11803088 [GRCh38]
Chr1:11863145 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003066593] Chr1:11794499..11794501 [GRCh38]
Chr1:11854556..11854558 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.587-11C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003071987] Chr1:11796410 [GRCh38]
Chr1:11856467 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003070880] Chr1:11791259 [GRCh38]
Chr1:11851316 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002608841] Chr1:11790835 [GRCh38]
Chr1:11850892 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002604176] Chr1:11803010 [GRCh38]
Chr1:11863067 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002605427] Chr1:11803059 [GRCh38]
Chr1:11863116 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.781-1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002588344]|Neural tube defects, folate-sensitive [RCV003459753] Chr1:11795349 [GRCh38]
Chr1:11855406 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003066828] Chr1:11801391 [GRCh38]
Chr1:11861448 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.395G>A (p.Arg132His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002611796]|MTHFR-related disorder [RCV003404109] Chr1:11801241 [GRCh38]
Chr1:11861298 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_005957.5(MTHFR):c.2T>A (p.Met1Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003093571] Chr1:11803115 [GRCh38]
Chr1:11863172 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV002633401] Chr1:11790699 [GRCh38]
Chr1:11850756 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1616A>G (p.His539Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003132692] Chr1:11792294 [GRCh38]
Chr1:11852351 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003132693] Chr1:11790759 [GRCh38]
Chr1:11850816 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003132694] Chr1:11790791 [GRCh38]
Chr1:11850848 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003132696]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005011238]|Neural tube defects, folate-sensitive [RCV003459784] Chr1:11792306 [GRCh38]
Chr1:11852363 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1537T>A (p.Leu513Ile) single nucleotide variant Thrombophilia due to thrombin defect [RCV005420458] Chr1:11792373 [GRCh38]
Chr1:11852430 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004795439] Chr1:11794008 [GRCh38]
Chr1:11854065 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_005957.5(MTHFR):c.386C>T (p.Thr129Ile) single nucleotide variant not specified [RCV005407550] Chr1:11801250 [GRCh38]
Chr1:11861307 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.704_705del (p.Thr235fs) microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003143404] Chr1:11796281..11796282 [GRCh38]
Chr1:11856338..11856339 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1175C>T (p.Ser392Phe) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003142629] Chr1:11794530 [GRCh38]
Chr1:11854587 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1521C>T (p.Val507=) single nucleotide variant Inborn genetic diseases [RCV003188191] Chr1:11793916 [GRCh38]
Chr1:11853973 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1163G>T (p.Arg388Leu) single nucleotide variant not specified [RCV004800077] Chr1:11794732 [GRCh38]
Chr1:11854789 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*118C>G single nucleotide variant not provided [RCV003422582] Chr1:11790562 [GRCh38]
Chr1:11850619 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1273C>G (p.Leu425Val) single nucleotide variant Inborn genetic diseases [RCV003359626] Chr1:11794432 [GRCh38]
Chr1:11854489 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1011dup (p.Met338fs) duplication Neural tube defects, folate-sensitive [RCV003461962] Chr1:11795117..11795118 [GRCh38]
Chr1:11855174..11855175 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1828del (p.Gln610fs) deletion Neural tube defects, folate-sensitive [RCV003461975] Chr1:11790823 [GRCh38]
Chr1:11850880 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1347+1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523192]|Neural tube defects, folate-sensitive [RCV003461967] Chr1:11794357 [GRCh38]
Chr1:11854414 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1640dup (p.Asn547fs) duplication Neural tube defects, folate-sensitive [RCV003461973] Chr1:11791318..11791319 [GRCh38]
Chr1:11851375..11851376 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.112del (p.Asp38fs) deletion Neural tube defects, folate-sensitive [RCV003470260] Chr1:11803005 [GRCh38]
Chr1:11863062 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.509del (p.Gly170fs) deletion Neural tube defects, folate-sensitive [RCV003470264] Chr1:11800289 [GRCh38]
Chr1:11860346 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.237-2A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523193]|Neural tube defects, folate-sensitive [RCV003470266] Chr1:11801401 [GRCh38]
Chr1:11861458 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1525C>T (p.Gln509Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003461969] Chr1:11793912 [GRCh38]
Chr1:11853969 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.586+11G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003873793] Chr1:11800201 [GRCh38]
Chr1:11860258 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.176G>A (p.Trp59Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003461965] Chr1:11802941 [GRCh38]
Chr1:11862998 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.532_540delinsT (p.Leu178fs) indel Neural tube defects, folate-sensitive [RCV003461976] Chr1:11800258..11800266 [GRCh38]
Chr1:11860315..11860323 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1750_1752+1del deletion Neural tube defects, folate-sensitive [RCV003461968] Chr1:11791206..11791209 [GRCh38]
Chr1:11851263..11851266 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1304T>C (p.Phe435Ser) single nucleotide variant MTHFR-related disorder [RCV004731535]|Neural tube defects, folate-sensitive [RCV003461971] Chr1:11794401 [GRCh38]
Chr1:11854458 [GRCh37]
Chr1:1p36.22		 likely pathogenic|uncertain significance
NM_005957.5(MTHFR):c.1246G>T (p.Glu416Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003470263] Chr1:11794459 [GRCh38]
Chr1:11854516 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1633-18C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003873913] Chr1:11791344 [GRCh38]
Chr1:11851401 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1166+1G>T single nucleotide variant Neural tube defects, folate-sensitive [RCV003470265] Chr1:11794728 [GRCh38]
Chr1:11854785 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1547dup (p.Thr517fs) duplication Neural tube defects, folate-sensitive [RCV003470262] Chr1:11792362..11792363 [GRCh38]
Chr1:11852419..11852420 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1845C>T (p.Asn615=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003875524] Chr1:11790806 [GRCh38]
Chr1:11850863 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.655dup (p.Ser219fs) duplication Neural tube defects, folate-sensitive [RCV003470259] Chr1:11796330..11796331 [GRCh38]
Chr1:11856387..11856388 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523191]|Neural tube defects, folate-sensitive [RCV003461960] Chr1:11792307 [GRCh38]
Chr1:11852364 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1502_1503del (p.Gly501fs) deletion Neural tube defects, folate-sensitive [RCV003461974] Chr1:11793934..11793935 [GRCh38]
Chr1:11853991..11853992 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.476-2A>T single nucleotide variant Neural tube defects, folate-sensitive [RCV003461972] Chr1:11800324 [GRCh38]
Chr1:11860381 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004795443]|Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005061442] Chr1:11795153 [GRCh38]
Chr1:11855210 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.*41C>T single nucleotide variant not provided [RCV003422583] Chr1:11790639 [GRCh38]
Chr1:11850696 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003388757] Chr1:11796278 [GRCh38]
Chr1:11856335 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1279del (p.Ser427fs) deletion Neural tube defects, folate-sensitive [RCV003461966] Chr1:11794426 [GRCh38]
Chr1:11854483 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.591C>A (p.Tyr197Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003461977] Chr1:11796395 [GRCh38]
Chr1:11856452 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.781-6G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003389932] Chr1:11795354 [GRCh38]
Chr1:11855411 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NC_000001.11:g.11806049C>T single nucleotide variant not provided [RCV001726736] Chr1:11806049 [GRCh38]
Chr1:11866106 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1786G>T (p.Gly596Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003461961] Chr1:11790865 [GRCh38]
Chr1:11850922 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1151_1152delinsG (p.Phe384fs) indel Neural tube defects, folate-sensitive [RCV003461963] Chr1:11794743..11794744 [GRCh38]
Chr1:11854800..11854801 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1663C>T (p.Gln555Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003461964] Chr1:11791296 [GRCh38]
Chr1:11851353 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1347+2T>C single nucleotide variant Neural tube defects, folate-sensitive [RCV003461970] Chr1:11794356 [GRCh38]
Chr1:11854413 [GRCh37]
Chr1:1p36.22		 likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003388681] Chr1:11796231 [GRCh38]
Chr1:11856288 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1499G>A (p.Trp500Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV003470261] Chr1:11793938 [GRCh38]
Chr1:11853995 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.969C>G (p.Leu323=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524914] Chr1:11795160 [GRCh38]
Chr1:11855217 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-11C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003828484] Chr1:11796410 [GRCh38]
Chr1:11856467 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.236+20A>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003525244] Chr1:11802861 [GRCh38]
Chr1:11862918 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-1G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003525254] Chr1:11801400 [GRCh38]
Chr1:11861457 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1167-14C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003831666] Chr1:11794552 [GRCh38]
Chr1:11854609 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1233G>A (p.Lys411=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003881950] Chr1:11794472 [GRCh38]
Chr1:11854529 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1503C>A (p.Gly501=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003828753] Chr1:11793934 [GRCh38]
Chr1:11853991 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1335G>C (p.Arg445=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524852] Chr1:11794370 [GRCh38]
Chr1:11854427 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-18del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003876400] Chr1:11791344 [GRCh38]
Chr1:11851401 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1578G>A (p.Leu526=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003525054] Chr1:11792332 [GRCh38]
Chr1:11852389 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524706] Chr1:11795294 [GRCh38]
Chr1:11855351 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.780+1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003525253] Chr1:11796205 [GRCh38]
Chr1:11856262 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003882696]|not specified [RCV004701863] Chr1:11794368 [GRCh38]
Chr1:11854425 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.475+8G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524830] Chr1:11801153 [GRCh38]
Chr1:11861210 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+11C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003880663] Chr1:11792267 [GRCh38]
Chr1:11852324 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1752+12G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524163] Chr1:11791195 [GRCh38]
Chr1:11851252 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.78C>T (p.Ser26=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523332] Chr1:11803039 [GRCh38]
Chr1:11863096 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.780+13G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524314] Chr1:11796193 [GRCh38]
Chr1:11856250 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1752+16del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003850431] Chr1:11791191 [GRCh38]
Chr1:11851248 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.475+17C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003811420] Chr1:11801144 [GRCh38]
Chr1:11861201 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.136del (p.Arg46fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524450] Chr1:11802981 [GRCh38]
Chr1:11863038 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1348-17C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523425] Chr1:11794106 [GRCh38]
Chr1:11854163 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-20G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003849647] Chr1:11790918 [GRCh38]
Chr1:11850975 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-14C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522338] Chr1:11795362 [GRCh38]
Chr1:11855419 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-1G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523641] Chr1:11794864 [GRCh38]
Chr1:11854921 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1245G>A (p.Glu415=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523718] Chr1:11794460 [GRCh38]
Chr1:11854517 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523808] Chr1:11795125 [GRCh38]
Chr1:11855182 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1752+16G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522602] Chr1:11791191 [GRCh38]
Chr1:11851248 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.121C>A (p.Arg41=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522755] Chr1:11802996 [GRCh38]
Chr1:11863053 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1803G>A (p.Glu601=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522785] Chr1:11790848 [GRCh38]
Chr1:11850905 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+13C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524053] Chr1:11792265 [GRCh38]
Chr1:11852322 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.927T>C (p.Leu309=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524056] Chr1:11795202 [GRCh38]
Chr1:11855259 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-9T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637029] Chr1:11796408 [GRCh38]
Chr1:11856465 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.243C>T (p.Asp81=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637237] Chr1:11801393 [GRCh38]
Chr1:11861450 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1737C>T (p.Ser579=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523215] Chr1:11791222 [GRCh38]
Chr1:11851279 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1166+7G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523754] Chr1:11794722 [GRCh38]
Chr1:11854779 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1509C>T (p.Ser503=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003833777] Chr1:11793928 [GRCh38]
Chr1:11853985 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.621T>C (p.Phe207=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637247] Chr1:11796365 [GRCh38]
Chr1:11856422 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1878C>T (p.Phe626=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524355] Chr1:11790773 [GRCh38]
Chr1:11850830 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1767C>T (p.Ala589=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524370] Chr1:11790884 [GRCh38]
Chr1:11850941 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.945G>A (p.Val315=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636170] Chr1:11795184 [GRCh38]
Chr1:11855241 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-37_1753-20dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636175] Chr1:11790917..11790918 [GRCh38]
Chr1:11850974..11850975 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1584G>A (p.Val528=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003856033] Chr1:11792326 [GRCh38]
Chr1:11852383 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-14A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522673] Chr1:11796413 [GRCh38]
Chr1:11856470 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.168T>C (p.Gly56=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523392] Chr1:11802949 [GRCh38]
Chr1:11863006 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-20C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636769] Chr1:11794883 [GRCh38]
Chr1:11854940 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.678C>A (p.Ile226=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636772] Chr1:11796308 [GRCh38]
Chr1:11856365 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1347+14_1347+80del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637283] Chr1:11794278..11794344 [GRCh38]
Chr1:11854335..11854401 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.105G>T (p.Pro35=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637285] Chr1:11803012 [GRCh38]
Chr1:11863069 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.476-13A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523409] Chr1:11800335 [GRCh38]
Chr1:11860392 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523951] Chr1:11800274 [GRCh38]
Chr1:11860331 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.906del (p.Ala302_Val303insTer) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523459] Chr1:11795223 [GRCh38]
Chr1:11855280 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.587-15C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637151] Chr1:11796414 [GRCh38]
Chr1:11856471 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-15A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003835444] Chr1:11801414 [GRCh38]
Chr1:11861471 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-17del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636586] Chr1:11794880 [GRCh38]
Chr1:11854937 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.586+20T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636587] Chr1:11800192 [GRCh38]
Chr1:11860249 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-20C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636875] Chr1:11791346 [GRCh38]
Chr1:11851403 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+10G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637161] Chr1:11792268 [GRCh38]
Chr1:11852325 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+35G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637166] Chr1:11792243 [GRCh38]
Chr1:11852300 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1605G>A (p.Arg535=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637173] Chr1:11792305 [GRCh38]
Chr1:11852362 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1533C>G (p.Ala511=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636131] Chr1:11792377 [GRCh38]
Chr1:11852434 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1167-14C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636132] Chr1:11794552 [GRCh38]
Chr1:11854609 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1031+20G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636642] Chr1:11795078 [GRCh38]
Chr1:11855135 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-4G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637342] Chr1:11796403 [GRCh38]
Chr1:11856460 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.105G>C (p.Pro35=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635407] Chr1:11803012 [GRCh38]
Chr1:11863069 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1386T>A (p.Ala462=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524126] Chr1:11794051 [GRCh38]
Chr1:11854108 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1031+15C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635879] Chr1:11795083 [GRCh38]
Chr1:11855140 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.872_875dup (p.Ala293fs) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635493] Chr1:11795253..11795254 [GRCh38]
Chr1:11855310..11855311 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1032-16C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636137] Chr1:11794879 [GRCh38]
Chr1:11854936 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-13A>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522425] Chr1:11795361 [GRCh38]
Chr1:11855418 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.699T>C (p.Ala233=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636727] Chr1:11796287 [GRCh38]
Chr1:11856344 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.780+11C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636986] Chr1:11796195 [GRCh38]
Chr1:11856252 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637224] Chr1:11793923 [GRCh38]
Chr1:11853980 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1167-18T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636579] Chr1:11794556 [GRCh38]
Chr1:11854613 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-20C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636967] Chr1:11801419 [GRCh38]
Chr1:11861476 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-4G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637061] Chr1:11790902 [GRCh38]
Chr1:11850959 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1293C>G (p.Val431=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636604] Chr1:11794412 [GRCh38]
Chr1:11854469 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+14G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635888] Chr1:11793893 [GRCh38]
Chr1:11853950 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.712del (p.Arg238fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635465] Chr1:11796274 [GRCh38]
Chr1:11856331 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1753-18G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523602] Chr1:11790916 [GRCh38]
Chr1:11850973 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-12C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523519] Chr1:11796411 [GRCh38]
Chr1:11856468 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.387C>T (p.Thr129=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637025] Chr1:11801249 [GRCh38]
Chr1:11861306 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1830G>A (p.Gln610=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635410] Chr1:11790821 [GRCh38]
Chr1:11850878 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1125C>T (p.Ile375=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523661] Chr1:11794770 [GRCh38]
Chr1:11854827 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1531-1G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523665] Chr1:11792380 [GRCh38]
Chr1:11852437 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636670] Chr1:11796208 [GRCh38]
Chr1:11856265 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.236+7T>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635831] Chr1:11802874 [GRCh38]
Chr1:11862931 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.507G>A (p.Glu169=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523716] Chr1:11800291 [GRCh38]
Chr1:11860348 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.519C>T (p.Asn173=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636062] Chr1:11800279 [GRCh38]
Chr1:11860336 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636097]|Neural tube defects, folate-sensitive [RCV004574156] Chr1:11794753 [GRCh38]
Chr1:11854810 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635548] Chr1:11794848 [GRCh38]
Chr1:11854905 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1348-12C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636714] Chr1:11794101 [GRCh38]
Chr1:11854158 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-13T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636092] Chr1:11790911 [GRCh38]
Chr1:11850968 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-14G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635599] Chr1:11790912 [GRCh38]
Chr1:11850969 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.475+10C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636237] Chr1:11801151 [GRCh38]
Chr1:11861208 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636755] Chr1:11794538 [GRCh38]
Chr1:11854595 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.60C>T (p.Ser20=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636315] Chr1:11803057 [GRCh38]
Chr1:11863114 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.339C>G (p.Ala113=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636324] Chr1:11801297 [GRCh38]
Chr1:11861354 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.357C>T (p.Tyr119=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636455] Chr1:11801279 [GRCh38]
Chr1:11861336 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1357C>T (p.Leu453=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636451] Chr1:11794080 [GRCh38]
Chr1:11854137 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1374G>A (p.Glu458=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636382] Chr1:11794063 [GRCh38]
Chr1:11854120 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.780+16G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636494] Chr1:11796190 [GRCh38]
Chr1:11856247 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.586+15C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636546] Chr1:11800197 [GRCh38]
Chr1:11860254 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1348-15C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636574] Chr1:11794104 [GRCh38]
Chr1:11854161 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1031+12G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003636834] Chr1:11795086 [GRCh38]
Chr1:11855143 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.273A>C (p.Ile91=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637054] Chr1:11801363 [GRCh38]
Chr1:11861420 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-10GT[6] microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637055] Chr1:11790900..11790901 [GRCh38]
Chr1:11850957..11850958 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1485C>T (p.Asp495=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003854597] Chr1:11793952 [GRCh38]
Chr1:11854009 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1575T>G (p.Leu525=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635761] Chr1:11792335 [GRCh38]
Chr1:11852392 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-13A>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003816121] Chr1:11795361 [GRCh38]
Chr1:11855418 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.934del (p.Ser312fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523265] Chr1:11795195 [GRCh38]
Chr1:11855252 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1166+12C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523297] Chr1:11794717 [GRCh38]
Chr1:11854774 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1686C>T (p.Gly562=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523545] Chr1:11791273 [GRCh38]
Chr1:11851330 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-5C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522826] Chr1:11791331 [GRCh38]
Chr1:11851388 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1348-15C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522270] Chr1:11794104 [GRCh38]
Chr1:11854161 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.4G>A (p.Val2Met) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003522430] Chr1:11803113 [GRCh38]
Chr1:11863170 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.42C>T (p.Cys14=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523726] Chr1:11803075 [GRCh38]
Chr1:11863132 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1038C>T (p.Pro346=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003524264] Chr1:11794857 [GRCh38]
Chr1:11854914 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1378del (p.Leu460fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635426] Chr1:11794059 [GRCh38]
Chr1:11854116 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1753-8G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635424] Chr1:11790906 [GRCh38]
Chr1:11850963 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1166+9C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003523436] Chr1:11794720 [GRCh38]
Chr1:11854777 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1332C>T (p.Asn444=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003813832] Chr1:11794373 [GRCh38]
Chr1:11854430 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.831A>G (p.Pro277=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635480] Chr1:11795298 [GRCh38]
Chr1:11855355 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.16del (p.Arg6fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003635507] Chr1:11803101 [GRCh38]
Chr1:11863158 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1530+19G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637586] Chr1:11793888 [GRCh38]
Chr1:11853945 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+14del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003858675] Chr1:11792264 [GRCh38]
Chr1:11852321 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.1166+8C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637632] Chr1:11794721 [GRCh38]
Chr1:11854778 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1252_1275del (p.Leu418_Leu425del) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003865098] Chr1:11794430..11794453 [GRCh38]
Chr1:11854487..11854510 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.237-8C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637833] Chr1:11801407 [GRCh38]
Chr1:11861464 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+7T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637608] Chr1:11793900 [GRCh38]
Chr1:11853957 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-14C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637695] Chr1:11794877 [GRCh38]
Chr1:11854934 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.237-10C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003819816] Chr1:11801409 [GRCh38]
Chr1:11861466 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+17C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637450] Chr1:11793890 [GRCh38]
Chr1:11853947 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1032-12A>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637696] Chr1:11794875 [GRCh38]
Chr1:11854932 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21		 pathogenic
NM_005957.5(MTHFR):c.1380G>A (p.Leu460=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637683] Chr1:11794057 [GRCh38]
Chr1:11854114 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1536C>T (p.Tyr512=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637714] Chr1:11792374 [GRCh38]
Chr1:11852431 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.790del (p.Ser264fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637720] Chr1:11795339 [GRCh38]
Chr1:11855396 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1531-19G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637803] Chr1:11792398 [GRCh38]
Chr1:11852455 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.447C>T (p.Gly149=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637813] Chr1:11801189 [GRCh38]
Chr1:11861246 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1530+1G>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637937]|Neural tube defects, folate-sensitive [RCV004573161] Chr1:11793906 [GRCh38]
Chr1:11853963 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.780+18G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003637949] Chr1:11796188 [GRCh38]
Chr1:11856245 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1753-34_1753-19dup duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003821226] Chr1:11790916..11790917 [GRCh38]
Chr1:11850973..11850974 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003638062] Chr1:11794408 [GRCh38]
Chr1:11854465 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.1167-12C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV003866543] Chr1:11794550 [GRCh38]
Chr1:11854607 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004515786] Chr1:11792314 [GRCh38]
Chr1:11852371 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.-13-380C>T single nucleotide variant MTHFR-related disorder [RCV003944069] Chr1:11803509 [GRCh38]
Chr1:11863566 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.781-7T>C single nucleotide variant MTHFR-related disorder [RCV003934744] Chr1:11795355 [GRCh38]
Chr1:11855412 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.-13-380C>A single nucleotide variant MTHFR-related disorder [RCV003922165] Chr1:11803509 [GRCh38]
Chr1:11863566 [GRCh37]
Chr1:1p36.22		 benign
NM_005957.5(MTHFR):c.-13-284T>C single nucleotide variant MTHFR-related disorder [RCV003981471] Chr1:11803413 [GRCh38]
Chr1:11863470 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.340A>G (p.Ser114Gly) single nucleotide variant Inborn genetic diseases [RCV004523875] Chr1:11801296 [GRCh38]
Chr1:11861353 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.-13-9C>T single nucleotide variant MTHFR-related disorder [RCV003951363] Chr1:11803138 [GRCh38]
Chr1:11863195 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_005957.5(MTHFR):c.47A>G (p.Glu16Gly) single nucleotide variant Inborn genetic diseases [RCV004506677] Chr1:11803070 [GRCh38]
Chr1:11863127 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.715T>C (p.Phe239Leu) single nucleotide variant Inborn genetic diseases [RCV004638489] Chr1:11796271 [GRCh38]
Chr1:11856328 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1319C>T (p.Ser440Leu) single nucleotide variant MTHFR-related disorder [RCV004755058]|not specified [RCV004690802] Chr1:11794386 [GRCh38]
Chr1:11854443 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_10710729)_(12030893_?)del deletion not provided [RCV004579076] Chr1:10710729..12030893 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_5923325)_(12071622_?)del deletion not provided [RCV004579132] Chr1:5923325..12071622 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NM_005957.5(MTHFR):c.1011G>T (p.Gly337=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004577963] Chr1:11795118 [GRCh38]
Chr1:11855175 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.83dup (p.Asp28fs) duplication Neural tube defects, folate-sensitive [RCV004576268] Chr1:11803033..11803034 [GRCh38]
Chr1:11863090..11863091 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.586+1G>A single nucleotide variant Neural tube defects, folate-sensitive [RCV004576269] Chr1:11800211 [GRCh38]
Chr1:11860268 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.781-2A>G single nucleotide variant Neural tube defects, folate-sensitive [RCV004576270] Chr1:11795350 [GRCh38]
Chr1:11855407 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.991G>T (p.Glu331Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV004576271] Chr1:11795138 [GRCh38]
Chr1:11855195 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.20del (p.Gly7fs) deletion Neural tube defects, folate-sensitive [RCV004576272] Chr1:11803097 [GRCh38]
Chr1:11863154 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1784G>A (p.Trp595Ter) single nucleotide variant Neural tube defects, folate-sensitive [RCV004576273] Chr1:11790867 [GRCh38]
Chr1:11850924 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1488del (p.Ile497fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005100913]|Neural tube defects, folate-sensitive [RCV004576275] Chr1:11793949 [GRCh38]
Chr1:11854006 [GRCh37]
Chr1:1p36.22		 pathogenic|likely pathogenic
NM_005957.5(MTHFR):c.198del (p.Pro67fs) deletion Neural tube defects, folate-sensitive [RCV004576276] Chr1:11802919 [GRCh38]
Chr1:11862976 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.1262G>T (p.Trp421Leu) single nucleotide variant not specified [RCV004690763] Chr1:11794443 [GRCh38]
Chr1:11854500 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1604G>C (p.Arg535Pro) single nucleotide variant Inborn genetic diseases [RCV004638487] Chr1:11792306 [GRCh38]
Chr1:11852363 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.580G>A (p.Val194Met) single nucleotide variant not provided [RCV004697820] Chr1:11800218 [GRCh38]
Chr1:11860275 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.385A>G (p.Thr129Ala) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004598392] Chr1:11801251 [GRCh38]
Chr1:11861308 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11853954)_(11856466_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004584046] Chr1:11853954..11856466 [GRCh37]
Chr1:1p36.22		 pathogenic
NC_000001.10:g.(?_11852300)_(11854940_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004584047] Chr1:11852300..11854940 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.757G>A (p.Val253Ile) single nucleotide variant Inborn genetic diseases [RCV004638488] Chr1:11796229 [GRCh38]
Chr1:11856286 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11850737)_(11863214_?)del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004584045] Chr1:11850737..11863214 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.750C>T (p.Cys250=) single nucleotide variant not provided [RCV004811093] Chr1:11796236 [GRCh38]
Chr1:11856293 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1736dup (p.Ser579fs) duplication Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004766696] Chr1:11791222..11791223 [GRCh38]
Chr1:11851279..11851280 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.362G>T (p.Gly121Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004764335] Chr1:11801274 [GRCh38]
Chr1:11861331 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.512G>A (p.Gly171Asp) single nucleotide variant MTHFR-related disorder [RCV004732318] Chr1:11800286 [GRCh38]
Chr1:11860343 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1442C>A (p.Thr481Asn) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV004785817] Chr1:11793995 [GRCh38]
Chr1:11854052 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.48G>C (p.Glu16Asp) single nucleotide variant Inborn genetic diseases [RCV004947223] Chr1:11803069 [GRCh38]
Chr1:11863126 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005006913] Chr1:11796259 [GRCh38]
Chr1:11856316 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.206C>T (p.Thr69Ile) single nucleotide variant Inborn genetic diseases [RCV004956658] Chr1:11802911 [GRCh38]
Chr1:11862968 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.881T>C (p.Ile294Thr) single nucleotide variant Inborn genetic diseases [RCV004947222] Chr1:11795248 [GRCh38]
Chr1:11855305 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1800G>A (p.Glu600=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005067523] Chr1:11790851 [GRCh38]
Chr1:11850908 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.966C>A (p.Thr322=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005145358] Chr1:11795163 [GRCh38]
Chr1:11855220 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.236+17T>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005174573] Chr1:11802864 [GRCh38]
Chr1:11862921 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-1G>C single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005147269] Chr1:11791327 [GRCh38]
Chr1:11851384 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.740del (p.Gly247fs) deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005208332] Chr1:11796246 [GRCh38]
Chr1:11856303 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.304G>C (p.Gly102Arg) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005208333] Chr1:11801332 [GRCh38]
Chr1:11861389 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1753-33TGTGTGCG[3] microsatellite Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005173955] Chr1:11790915..11790916 [GRCh38]
Chr1:11850972..11850973 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.156A>G (p.Arg52=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005156983] Chr1:11802961 [GRCh38]
Chr1:11863018 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1633-29_1633-17del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005184773] Chr1:11791343..11791355 [GRCh38]
Chr1:11851400..11851412 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.587-4G>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005185097] Chr1:11796403 [GRCh38]
Chr1:11856460 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1012A>C (p.Met338Leu) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005074565] Chr1:11795117 [GRCh38]
Chr1:11855174 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.604C>T (p.Pro202Ser) single nucleotide variant not specified [RCV005236891] Chr1:11796382 [GRCh38]
Chr1:11856439 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.475+17C>T single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005177847] Chr1:11801144 [GRCh38]
Chr1:11861201 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.152G>C (p.Arg51Pro) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005241226] Chr1:11802965 [GRCh38]
Chr1:11863022 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_005957.5(MTHFR):c.900G>A (p.Glu300=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005164417] Chr1:11795229 [GRCh38]
Chr1:11855286 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1632+6C>G single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005074961] Chr1:11792272 [GRCh38]
Chr1:11852329 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.236+12C>A single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005082615] Chr1:11802869 [GRCh38]
Chr1:11862926 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1914C>T (p.Asp638=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005148628] Chr1:11790737 [GRCh38]
Chr1:11850794 [GRCh37]
Chr1:1p36.22		 likely benign
NM_005957.5(MTHFR):c.1176C>A (p.Ser392=) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005123144] Chr1:11794529 [GRCh38]
Chr1:11854586 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.11:g.11791327del deletion Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005113294] Chr1:11791325 [GRCh38]
Chr1:11851382 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_005957.5(MTHFR):c.875C>T (p.Ala292Val) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005399950] Chr1:11795254 [GRCh38]
Chr1:11855311 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1067A>G (p.Lys356Arg) single nucleotide variant Inborn genetic diseases [RCV005378699]|not provided [RCV005422615] Chr1:11794828 [GRCh38]
Chr1:11854885 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.112G>C (p.Asp38His) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005399948] Chr1:11803005 [GRCh38]
Chr1:11863062 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.952C>G (p.Leu318Val) single nucleotide variant Inborn genetic diseases [RCV005378700] Chr1:11795177 [GRCh38]
Chr1:11855234 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1028C>G (p.Pro343Arg) single nucleotide variant Inborn genetic diseases [RCV005387420] Chr1:11795101 [GRCh38]
Chr1:11855158 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001286.5(CLCN6):c.68C>A (p.Thr23Asn) single nucleotide variant not provided [RCV005142886] Chr1:11806330 [GRCh38]
Chr1:11866387 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1081G>T (p.Asp361Tyr) single nucleotide variant Inborn genetic diseases [RCV005378701] Chr1:11794814 [GRCh38]
Chr1:11854871 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1277C>T (p.Thr426Ile) single nucleotide variant Inborn genetic diseases [RCV005378702] Chr1:11794428 [GRCh38]
Chr1:11854485 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.854A>G (p.Glu285Gly) single nucleotide variant Inborn genetic diseases [RCV005378703] Chr1:11795275 [GRCh38]
Chr1:11855332 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1477T>A (p.Ser493Thr) single nucleotide variant Homocystinuria due to methylene tetrahydrofolate reductase deficiency [RCV005399949] Chr1:11793960 [GRCh38]
Chr1:11854017 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1003C>A (p.Arg335Ser) single nucleotide variant not specified [RCV005408582] Chr1:11795126 [GRCh38]
Chr1:11855183 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_005957.5(MTHFR):c.1725G>A (p.Val575=) single nucleotide variant not specified [RCV005409109] Chr1:11791234 [GRCh38]
Chr1:11851291 [GRCh37]
Chr1:1p36.22		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:10873
Count of miRNA genes:1185
Interacting mature miRNAs:1491
Transcripts:ENST00000376486, ENST00000376583, ENST00000376585, ENST00000376590, ENST00000376592, ENST00000413656, ENST00000418034, ENST00000423400, ENST00000431243
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407170626GWAS819602_Hage at menopause QTL GWAS819602 (human)3e-08serine measurement11179632111796322Human
407090245GWAS739221_Hsystolic blood pressure QTL GWAS739221 (human)8e-17systolic blood pressure11180272111802722Human
407023173GWAS672149_Hhomocysteine measurement QTL GWAS672149 (human)4e-104blood homocysteine amount (VT:0006076)11179632111796322Human
597242270GWAS1338344_Hhomocysteine measurement QTL GWAS1338344 (human)1e-120homocysteine measurement11179632111796322Human
597019549GWAS1115623_Hsmoking status measurement, systolic blood pressure QTL GWAS1115623 (human)4e-15arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179746911797470Human
616485047GWAS1881630_Hfolic acid amount QTL GWAS1881630 (human)6e-14folic acid amount11179632111796322Human
407074377GWAS723353_Hsystolic blood pressure, alcohol consumption measurement QTL GWAS723353 (human)3e-19systolic blood pressure, alcohol consumption measurement11180452911804530Human
597584277GWAS1641137_Hmean corpuscular hemoglobin concentration QTL GWAS1641137 (human)1e-21mean corpuscular hemoglobin concentration11179632111796322Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
628831605GWAS2739834_Herythrocyte count QTL GWAS2739834 (human)8e-13erythrocyte countred blood cell count (CMO:0000025)11179797911797980Human
407068236GWAS717212_Hdiastolic blood pressure, alcohol consumption measurement QTL GWAS717212 (human)5e-18diastolic blood pressure, alcohol consumption measurement11180452911804530Human
407015506GWAS664482_HCalcium channel blocker use measurement QTL GWAS664482 (human)7e-16Calcium channel blocker use measurement11180452911804530Human
628444004GWAS2352233_Hmultiple sclerosis QTL GWAS2352233 (human)2e-15multiple sclerosis11179632111796322Human
628487520GWAS2395749_Hsystolic blood pressure QTL GWAS2395749 (human)8e-17arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
628731247GWAS2639476_Hsystolic blood pressure QTL GWAS2639476 (human)5e-15arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179632111796322Human
406994517GWAS643493_Hhomocysteine measurement QTL GWAS643493 (human)2e-11homocysteine measurement11179632111796322Human
597598086GWAS1654946_Hmean corpuscular hemoglobin concentration QTL GWAS1654946 (human)3e-38mean corpuscular hemoglobin concentration11179632111796322Human
597327235GWAS1423309_Hleft ventricular structural measurement QTL GWAS1423309 (human)3e-08left ventricular structural measurement11180272111802722Human
407018073GWAS667049_Hmean platelet volume QTL GWAS667049 (human)7e-16mean platelet volume11180272111802722Human
628366185GWAS2287029_Hfolic acid level QTL GWAS2287029 (human)8e-38folic acid level11179632111796322Human
597037449GWAS1133523_Hsystolic blood pressure, alcohol consumption measurement QTL GWAS1133523 (human)3e-19systolic blood pressure, alcohol consumption measurement11180452911804530Human
406910050GWAS559026_Hdiastolic blood pressure QTL GWAS559026 (human)3e-18diastolic blood pressure11180272111802722Human
596971441GWAS1090960_Hdiastolic blood pressure QTL GWAS1090960 (human)4e-11diastolic blood pressure11179632111796322Human
407000170GWAS649146_Hdiastolic blood pressure QTL GWAS649146 (human)5e-32arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180272111802722Human
628790611GWAS2698840_Hage at menopause QTL GWAS2698840 (human)9e-08estrous cycle trait (VT:0001927)11179632111796322Human
628481881GWAS2390110_HMoyamoya disease QTL GWAS2390110 (human)2e-19Moyamoya disease11180215711802158Human
407000687GWAS649663_Hleft ventricular structural measurement QTL GWAS649663 (human)3e-08left ventricular structural measurement11180272111802722Human
597617073GWAS1673933_Hmean corpuscular volume QTL GWAS1673933 (human)3e-31mean corpuscular volume11179632111796322Human
407415928GWAS1064904_Hpulse pressure measurement QTL GWAS1064904 (human)0.0000001pulse pressure measurement11179187011791871Human
597133734GWAS1229808_Hpulse pressure measurement QTL GWAS1229808 (human)0.0000001arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)11179187011791871Human
597028772GWAS1124846_Hmean arterial pressure, alcohol consumption measurement QTL GWAS1124846 (human)1e-20mean arterial pressure, alcohol consumption measurement11180452911804530Human
597043109GWAS1139183_Herythrocyte count QTL GWAS1139183 (human)7e-13mean platelet volumered blood cell count (CMO:0000025)11179797911797980Human
597449131GWAS1545205_Hsystolic blood pressure QTL GWAS1545205 (human)5e-15systolic blood pressure11179632111796322Human
597066145GWAS1162219_Hdiastolic blood pressure QTL GWAS1162219 (human)3e-18arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180272111802722Human
597584804GWAS1641664_Hmean corpuscular volume QTL GWAS1641664 (human)4e-20mean corpuscular volume11179632111796322Human
407027202GWAS676178_Hmean arterial pressure QTL GWAS676178 (human)2e-16arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)11180272111802722Human
597599708GWAS1656568_Hmean corpuscular hemoglobin concentration QTL GWAS1656568 (human)1e-24mean corpuscular hemoglobin concentration11179632111796322Human
597037013GWAS1133087_Hdiastolic blood pressure, alcohol consumption measurement QTL GWAS1133087 (human)5e-18diastolic blood pressure, alcohol consumption measurement11180452911804530Human
597461977GWAS1558051_Hdiastolic blood pressure QTL GWAS1558051 (human)7e-24diastolic blood pressure11179632111796322Human
407289856GWAS938832_Hmean arterial pressure, unipolar depression QTL GWAS938832 (human)3e-17mean arterial pressure, unipolar depression11180179811801799Human
407026181GWAS675157_Hpreeclampsia, hypertension, pregnancy-induced QTL GWAS675157 (human)7e-12preeclampsia, hypertension, pregnancy-induced11180574711805748Human
597614547GWAS1671407_Hmean corpuscular volume QTL GWAS1671407 (human)7e-22mean corpuscular volume11179632111796322Human
616478451GWAS1875034_Hfolic acid amount QTL GWAS1875034 (human)4e-19folic acid amount11179632111796322Human
407078930GWAS727906_Hmean arterial pressure QTL GWAS727906 (human)9e-21mean arterial pressure11180272111802722Human
406893586GWAS542562_Hsmoking status measurement, diastolic blood pressure QTL GWAS542562 (human)5e-10smoking status measurement, diastolic blood pressure11179746911797470Human
597019078GWAS1115152_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115152 (human)5e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179746911797470Human
407417374GWAS1066350_Hdiastolic blood pressure QTL GWAS1066350 (human)9e-08diastolic blood pressure11179187011791871Human
407339025GWAS988001_Hglycine measurement QTL GWAS988001 (human)2e-08cortical thickness11179632111796322Human
597812215GWAS1679606_Hdiastolic blood pressure QTL GWAS1679606 (human)5e-18diastolic blood pressure11180452911804530Human
616367331GWAS1847573_Hdeficiency anemia QTL GWAS1847573 (human)3e-11deficiency anemia11179632111796322Human
407176218GWAS825194_Hmultiple sclerosis QTL GWAS825194 (human)2e-15multiple sclerosis11179632111796322Human
597189626GWAS1285700_Hpreeclampsia QTL GWAS1285700 (human)5e-10preeclampsia11180272111802722Human
407083559GWAS732535_Hcoronary artery disease QTL GWAS732535 (human)0.0000002coronary artery disease11180078611800787Human
628994325GWAS2902554_Hmean corpuscular hemoglobin concentration QTL GWAS2902554 (human)3e-38erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179632111796322Human
628815114GWAS2723343_Hdiastolic blood pressure QTL GWAS2723343 (human)2e-12arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179632111796322Human
598014421GWAS1733720_Hred blood cell density QTL GWAS1733720 (human)2e-11red blood cell density11180179811801799Human
597080036GWAS1176110_HRed cell distribution width QTL GWAS1176110 (human)7e-21erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)11180215711802158Human
628492549GWAS2400778_HCalcium channel blocker use measurement QTL GWAS2400778 (human)7e-16Calcium channel blocker use measurement11180452911804530Human
406991414GWAS640390_Hmean corpuscular hemoglobin concentration QTL GWAS640390 (human)1e-29mean corpuscular hemoglobin concentration11179890011798901Human
597019616GWAS1115690_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115690 (human)6e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179746911797470Human
628731662GWAS2639891_Hdiastolic blood pressure QTL GWAS2639891 (human)7e-24arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179632111796322Human
628478210GWAS2386439_Hcoronary artery disease QTL GWAS2386439 (human)0.0000002coronary artery integrity trait (VT:0010746)11180078611800787Human
628651265GWAS2559494_Hglycine measurement QTL GWAS2559494 (human)3e-09blood glycine amount (VT:0010965)blood amino acid measurement (CMO:0003730)11179632111796322Human
616372931GWAS1853173_Hobsolete_folic acid measurement QTL GWAS1853173 (human)1e-52obsolete_folic acid measurement11179632111796322Human
597586913GWAS1643773_Hdiastolic blood pressure change measurement QTL GWAS1643773 (human)8e-30arterial blood pressure trait (VT:2000000)change in diastolic blood pressure (CMO:0001016)11180179811801799Human
628649977GWAS2558206_Hsystolic blood pressure QTL GWAS2558206 (human)1e-11arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179461411794615Human
598056228GWAS1775527_Herythrocyte volume QTL GWAS1775527 (human)7e-20erythrocyte volume11179632111796322Human
628568054GWAS2476283_Hfolic acid level QTL GWAS2476283 (human)6e-14folic acid level11179632111796322Human
597054225GWAS1150299_Hmultiple sclerosis QTL GWAS1150299 (human)2e-15multiple sclerosis11179632111796322Human
406893771GWAS542747_Hsmoking status measurement, diastolic blood pressure QTL GWAS542747 (human)3e-14smoking status measurement, diastolic blood pressure11179746911797470Human
628438011GWAS2346240_Hhypertension QTL GWAS2346240 (human)4e-34blood pressure trait (VT:0000183)11180272111802722Human
597110041GWAS1206115_HCalcium channel blocker use measurement QTL GWAS1206115 (human)7e-16Calcium channel blocker use measurement11180452911804530Human
407342295GWAS991271_HBMI-adjusted hip circumference QTL GWAS991271 (human)8e-09BMI-adjusted hip circumference11179632111796322Human
407064275GWAS713251_Hred blood cell density measurement QTL GWAS713251 (human)2e-11red blood cell density measurement11180179811801799Human
407342294GWAS991270_HBMI-adjusted hip circumference QTL GWAS991270 (human)4e-09BMI-adjusted hip circumference11179441911794420Human
628995054GWAS2903283_Herythrocyte volume QTL GWAS2903283 (human)3e-31erythrocyte volume11179632111796322Human
406917333GWAS566309_Hhigh altitude adaptation QTL GWAS566309 (human)6e-09high altitude adaptation11179632111796322Human
598055728GWAS1775027_Herythrocyte volume QTL GWAS1775027 (human)4e-20erythrocyte volume11179632111796322Human
597290753GWAS1386827_Hfolic acid measurement QTL GWAS1386827 (human)8e-38folic acid measurement11179632111796322Human
628573165GWAS2481394_Hfolic acid level QTL GWAS2481394 (human)8e-38folic acid level11179632111796322Human
597414657GWAS1510731_Hcoronary artery disease QTL GWAS1510731 (human)0.0000002coronary artery disease11180078611800787Human
597019400GWAS1115474_Hsmoking status measurement, systolic blood pressure QTL GWAS1115474 (human)3e-19arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179746911797470Human
597129992GWAS1226066_Hdiastolic blood pressure QTL GWAS1226066 (human)9e-08diastolic blood pressure11179187011791871Human
597349690GWAS1445764_Hhomocysteine measurement QTL GWAS1445764 (human)2e-21homocysteine measurement11179632111796322Human
628974047GWAS2882276_Hhypertension QTL GWAS2882276 (human)2e-43blood pressure trait (VT:0000183)11180179811801799Human
597019953GWAS1116027_Hsmoking status measurement, systolic blood pressure QTL GWAS1116027 (human)4e-14arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179746911797470Human
407184621GWAS833597_Hhomocysteine measurement QTL GWAS833597 (human)6e-69homocysteine measurement11179632111796322Human
407105261GWAS754237_Herythrocyte count QTL GWAS754237 (human)3e-09erythrocyte count11179797911797980Human
406891247GWAS540223_Hsmoking status measurement, diastolic blood pressure QTL GWAS540223 (human)5e-14smoking status measurement, diastolic blood pressure11179746911797470Human
616373770GWAS1854012_Hobsolete_folic acid measurement QTL GWAS1854012 (human)4e-19obsolete_folic acid measurement11179632111796322Human
597019432GWAS1115506_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115506 (human)5e-14arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179746911797470Human
597249373GWAS1345447_Hage at menopause QTL GWAS1345447 (human)9e-08age at menopause11179632111796322Human
628959673GWAS2867902_Hmean corpuscular hemoglobin concentration QTL GWAS2867902 (human)9e-17erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179632111796322Human
406946950GWAS595926_Hhomocysteine measurement QTL GWAS595926 (human)8e-35blood homocysteine amount (VT:0006076)11179632111796322Human
628993972GWAS2902201_Herythrocyte volume QTL GWAS2902201 (human)2e-30erythrocyte volume11179632111796322Human
407020171GWAS669147_Hsystolic blood pressure QTL GWAS669147 (human)2e-13arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
628445631GWAS2353860_Hfolic acid level QTL GWAS2353860 (human)4e-19folic acid level11179632111796322Human
628657586GWAS2565815_Hpreeclampsia QTL GWAS2565815 (human)5e-10blood pressure trait (VT:0000183)11180272111802722Human
628816308GWAS2724537_Hmean reticulocyte volume QTL GWAS2724537 (human)5e-30reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)11179632111796322Human
597358420GWAS1454494_Hsystolic blood pressure QTL GWAS1454494 (human)6e-29arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180078611800787Human
597047622GWAS1143696_Hdiastolic blood pressure QTL GWAS1143696 (human)3e-09diastolic blood pressure11180272111802722Human
406925459GWAS574435_Hhypertension QTL GWAS574435 (human)4e-34hypertension11180272111802722Human
597090629GWAS1186703_Hred blood cell density measurement QTL GWAS1186703 (human)2e-11red blood cell density measurement11180179811801799Human
407406748GWAS1055724_Hobsolete_red blood cell distribution width QTL GWAS1055724 (human)1e-23obsolete_red blood cell distribution width11179632111796322Human
597274959GWAS1371033_Hmean arterial pressure, major depressive disorder QTL GWAS1371033 (human)3e-17mean arterial pressure, major depressive disorder11180179811801799Human
598026621GWAS1745920_Herythrocyte volume QTL GWAS1745920 (human)2e-30erythrocyte volume11179632111796322Human
406893722GWAS542698_Hsmoking status measurement, systolic blood pressure QTL GWAS542698 (human)4e-15smoking status measurement, systolic blood pressure11179746911797470Human
407003806GWAS652782_Hsystolic blood pressure QTL GWAS652782 (human)4e-09arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
406910622GWAS559598_Hsystolic blood pressure QTL GWAS559598 (human)1e-16systolic blood pressure11180272111802722Human
407003805GWAS652781_Hsystolic blood pressure QTL GWAS652781 (human)2e-09arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
407003298GWAS652274_Hmean corpuscular hemoglobin QTL GWAS652274 (human)3e-22mean corpuscular hemoglobin11180078611800787Human
407238308GWAS887284_Hhomocysteine measurement QTL GWAS887284 (human)1e-120homocysteine measurement11179632111796322Human
407001763GWAS650739_Hpulse pressure measurement QTL GWAS650739 (human)4e-19arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)11180272111802722Human
597019508GWAS1115582_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115582 (human)9e-40arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180272111802722Human
407397035GWAS1046011_Hsystolic blood pressure QTL GWAS1046011 (human)1e-11systolic blood pressure11179187011791871Human
407001252GWAS650228_Hsystolic blood pressure QTL GWAS650228 (human)1e-40arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
597239153GWAS1335227_HBMI-adjusted hip circumference QTL GWAS1335227 (human)8e-09BMI-adjusted hip circumference11179632111796322Human
597239152GWAS1335226_HBMI-adjusted hip circumference QTL GWAS1335226 (human)4e-09BMI-adjusted hip circumference11179441911794420Human
597812042GWAS1679433_Hmean arterial pressure QTL GWAS1679433 (human)1e-20mean arterial pressure11180452911804530Human
628957584GWAS2865813_Hmean corpuscular hemoglobin concentration QTL GWAS2865813 (human)1e-21erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179632111796322Human
628490648GWAS2398877_Hmean arterial pressure, alcohol consumption quality QTL GWAS2398877 (human)1e-20arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)11180452911804530Human
597110119GWAS1206193_Herythrocyte count QTL GWAS1206193 (human)3e-09erythrocyte countred blood cell count (CMO:0000025)11179797911797980Human
597599599GWAS1656459_Hmean corpuscular hemoglobin concentration QTL GWAS1656459 (human)2e-34mean corpuscular hemoglobin concentration11179632111796322Human
407109808GWAS758784_Hmean corpuscular hemoglobin QTL GWAS758784 (human)8e-24erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)11179890011798901Human
628369293GWAS2290137_Hfolic acid level QTL GWAS2290137 (human)1e-52folic acid level11179632111796322Human
597098134GWAS1194208_Hhomocysteine measurement QTL GWAS1194208 (human)2e-11blood homocysteine amount (VT:0006076)11179632111796322Human
597073558GWAS1169632_HMoyamoya disease QTL GWAS1169632 (human)2e-19Moyamoya disease11180215711802158Human
406991171GWAS640147_Hred blood cell folate measurement QTL GWAS640147 (human)9e-12red blood cell folate measurement11180574711805748Human
628441713GWAS2349942_Hdiastolic blood pressure QTL GWAS2349942 (human)3e-09arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180272111802722Human
406991175GWAS640151_Hhomocysteine measurement QTL GWAS640151 (human)1e-19homocysteine measurement11179632111796322Human
406892357GWAS541333_Hsmoking status measurement, systolic blood pressure QTL GWAS541333 (human)2e-17smoking status measurement, systolic blood pressure11179746911797470Human
406991173GWAS640149_Hfolic acid measurement QTL GWAS640149 (human)3e-11folic acid measurement11179632111796322Human
628886139GWAS2794368_Hmean arterial pressure, major depressive disorder QTL GWAS2794368 (human)3e-17arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)11180179811801799Human
407000389GWAS649365_Hmean platelet volume QTL GWAS649365 (human)2e-14mean platelet volume11180272111802722Human
597082769GWAS1178843_Hmean platelet volume QTL GWAS1178843 (human)7e-16mean platelet volume11180272111802722Human
598028460GWAS1747759_Herythrocyte volume QTL GWAS1747759 (human)3e-31erythrocyte volume11179632111796322Human
628956788GWAS2865017_Herythrocyte volume QTL GWAS2865017 (human)4e-20erythrocyte volume11179632111796322Human
597082271GWAS1178345_Hmean platelet volume QTL GWAS1178345 (human)2e-14mean platelet volume11180272111802722Human
616516021GWAS1912604_Hmean reticulocyte volume QTL GWAS1912604 (human)5e-30mean reticulocyte volume11179632111796322Human
407069007GWAS717983_Hdiastolic blood pressure, alcohol consumption measurement QTL GWAS717983 (human)3e-09diastolic blood pressure, alcohol consumption measurement11179205311792054Human
616528306GWAS1924889_HIGF-1 measurement QTL GWAS1924889 (human)2e-17IGF-1 measurement11180078611800787Human
407000400GWAS649376_Hsmoking status measurement, systolic blood pressure QTL GWAS649376 (human)3e-19smoking status measurement, systolic blood pressure11179746911797470Human
597529743GWAS1625817_Hhypertension, pregnancy-induced QTL GWAS1625817 (human)0.0000001hypertension, pregnancy-induced11180574711805748Human
628673133GWAS2581362_Hhomocysteine measurement QTL GWAS2581362 (human)2e-21blood homocysteine amount (VT:0006076)11179632111796322Human
617257436GWAS2194212_Hdiastolic blood pressure QTL GWAS2194212 (human)4e-80diastolic blood pressure11179890011798901Human
628990048GWAS2898277_Herythrocyte volume QTL GWAS2898277 (human)7e-22erythrocyte volume11179632111796322Human
597583489GWAS1640349_Hmean corpuscular hemoglobin concentration QTL GWAS1640349 (human)9e-17mean corpuscular hemoglobin concentration11179632111796322Human
407215973GWAS864949_Hschizophrenia QTL GWAS864949 (human)4e-15schizophrenia11179632111796322Human
597276344GWAS1372418_HX-24337 measurement QTL GWAS1372418 (human)9e-43X-24337 measurement11179632111796322Human
407116641GWAS765617_Hmean corpuscular volume QTL GWAS765617 (human)4e-11mean corpuscular volume11179890011798901Human
597047486GWAS1143560_HRed cell distribution width QTL GWAS1143560 (human)1e-23erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)11179632111796322Human
597127871GWAS1223945_Hfolic acid measurement QTL GWAS1223945 (human)6e-14folic acid measurement11179632111796322Human
406920557GWAS569533_Hdiastolic blood pressure QTL GWAS569533 (human)3e-09diastolic blood pressure11180272111802722Human
407075695GWAS724671_Hpulse pressure measurement, alcohol drinking QTL GWAS724671 (human)6e-16pulse pressure measurement, alcohol drinking11180574711805748Human
406895469GWAS544445_Hsmoking status measurement, systolic blood pressure QTL GWAS544445 (human)5e-43smoking status measurement, systolic blood pressure11180272111802722Human
597378735GWAS1474809_Hmean corpuscular hemoglobin QTL GWAS1474809 (human)3e-22erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)11180078611800787Human
597584043GWAS1640903_Hmean corpuscular volume QTL GWAS1640903 (human)7e-20mean corpuscular volume11179632111796322Human
616511367GWAS1907950_Hfolic acid amount QTL GWAS1907950 (human)1e-52folic acid amount11179632111796322Human
597019310GWAS1115384_Hsmoking status measurement, systolic blood pressure QTL GWAS1115384 (human)5e-43arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
597065899GWAS1161973_Hsystolic blood pressure QTL GWAS1161973 (human)1e-16arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180272111802722Human
407143802GWAS792778_HMoyamoya disease QTL GWAS792778 (human)2e-19Moyamoya disease11180215711802158Human
597428956GWAS1525030_Hred blood cell folate measurement QTL GWAS1525030 (human)9e-12red blood cell folate measurement11180574711805748Human
628822586GWAS2730815_Hdiastolic blood pressure QTL GWAS2730815 (human)4e-11arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179632111796322Human
597992678GWAS1711977_Hsystolic blood pressure, alcohol consumption quality QTL GWAS1711977 (human)3e-19arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11180452911804530Human
597287645GWAS1383719_Hdiastolic blood pressure QTL GWAS1383719 (human)4e-11diastolic blood pressure11179632111796322Human
616488952GWAS1885535_Hfolic acid amount QTL GWAS1885535 (human)8e-38folic acid amount11179632111796322Human
597057233GWAS1153307_Hfolic acid measurement QTL GWAS1153307 (human)4e-19folic acid measurement11179632111796322Human
628865586GWAS2773815_Hfolic acid level QTL GWAS2773815 (human)1e-52folic acid level11179632111796322Human
597594327GWAS1651187_Hhypertension QTL GWAS1651187 (human)2e-43hypertension11180179811801799Human
598054127GWAS1773426_Herythrocyte volume QTL GWAS1773426 (human)8e-16erythrocyte volume11179632111796322Human
597992175GWAS1711474_Hmean arterial pressure, alcohol consumption quality QTL GWAS1711474 (human)1e-20mean arterial pressure, alcohol consumption quality11180452911804530Human
596971224GWAS1090743_Hdiastolic blood pressure QTL GWAS1090743 (human)2e-12diastolic blood pressure11179632111796322Human
596974811GWAS1094330_Hmean arterial pressure, major depressive disorder QTL GWAS1094330 (human)3e-17mean arterial pressure, major depressive disorder11180179811801799Human
628505145GWAS2413374_Hsystolic blood pressure QTL GWAS2413374 (human)1e-11arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179187011791871Human
597982443GWAS1701742_Hplatelet volume QTL GWAS1701742 (human)7e-16platelet volume11180272111802722Human
407086867GWAS735843_HX-24337 measurement QTL GWAS735843 (human)7e-32X-24337 measurement11179632111796322Human
597584588GWAS1641448_Hmean corpuscular volume QTL GWAS1641448 (human)8e-16mean corpuscular volume11179632111796322Human
597127877GWAS1223951_Hhomocysteine measurement QTL GWAS1223951 (human)6e-69homocysteine measurement11179632111796322Human
598026993GWAS1746292_Herythrocyte volume QTL GWAS1746292 (human)7e-22erythrocyte volume11179632111796322Human
597586632GWAS1643492_Hdiastolic blood pressure QTL GWAS1643492 (human)3e-20arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179245911792460Human
597360323GWAS1456397_Hdiastolic blood pressure QTL GWAS1456397 (human)1e-23arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180078611800787Human
406889247GWAS538223_Hsmoking status measurement, systolic blood pressure QTL GWAS538223 (human)4e-14smoking status measurement, systolic blood pressure11179746911797470Human
597104375GWAS1200449_Hmean corpuscular volume QTL GWAS1200449 (human)4e-11mean corpuscular volume11179890011798901Human
406970656GWAS619632_Hdiastolic blood pressure QTL GWAS619632 (human)1e-23diastolic blood pressure11180078611800787Human
628619797GWAS2528026_HBMI-adjusted waist-hip ratio QTL GWAS2528026 (human)0.000003body size trait (VT:0100005)11180040811800409Human
597195515GWAS1291589_Hsystolic blood pressure QTL GWAS1291589 (human)1e-11systolic blood pressure11179187011791871Human
628996635GWAS2904864_Hmean corpuscular hemoglobin concentration QTL GWAS2904864 (human)2e-34erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179632111796322Human
628488210GWAS2396439_Hdiastolic blood pressure, alcohol consumption quality QTL GWAS2396439 (human)5e-18arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180452911804530Human
407318828GWAS967804_HX-24337 measurement QTL GWAS967804 (human)9e-43X-24337 measurement11179632111796322Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
597075195GWAS1171269_Hmean arterial pressure QTL GWAS1171269 (human)9e-21arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)11180272111802722Human
406989101GWAS638077_Hbirth weight, parental genotype effect measurement QTL GWAS638077 (human)3e-13birth weight, parental genotype effect measurement11180272111802722Human
598112983GWAS1821866_Hsystolic blood pressure QTL GWAS1821866 (human)1e-11systolic blood pressure11179461411794615Human
407035187GWAS684163_Hmean reticulocyte volume QTL GWAS684163 (human)1e-12mean reticulocyte volume11179632111796322Human
596958437GWAS1077956_HRed cell distribution width QTL GWAS1077956 (human)1e-23Red cell distribution width11179632111796322Human
407092535GWAS741511_HBMI-adjusted waist-hip ratio QTL GWAS741511 (human)0.000003BMI-adjusted waist-hip ratio11180040811800409Human
628446720GWAS2354949_Hmean corpuscular hemoglobin concentration QTL GWAS2354949 (human)1e-29erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179890011798901Human
597187823GWAS1283897_HX-24337 measurement QTL GWAS1283897 (human)7e-32X-24337 measurement11179632111796322Human
406952248GWAS601224_Hsystolic blood pressure QTL GWAS601224 (human)6e-29systolic blood pressure11180078611800787Human
597161708GWAS1257782_Hglycine measurement QTL GWAS1257782 (human)2e-08cortical thickness11179632111796322Human
616369094GWAS1849336_Hobsolete_folic acid measurement QTL GWAS1849336 (human)6e-14obsolete_folic acid measurement11179632111796322Human
628365833GWAS2286677_Hfolic acid level QTL GWAS2286677 (human)4e-19folic acid level11179632111796322Human
628939777GWAS2848006_Hdeficiency anemia QTL GWAS2848006 (human)3e-11folic acid level11179632111796322Human
597602334GWAS1659194_Hhypertension, Antihypertensive use measurement QTL GWAS1659194 (human)2e-22blood pressure trait (VT:0000183)11180272111802722Human
406917057GWAS566033_Hhypertension, pregnancy-induced QTL GWAS566033 (human)0.0000001hypertension, pregnancy-induced11180574711805748Human
628958964GWAS2867193_Hserum creatinine amount QTL GWAS2867193 (human)9e-10serum creatinine amount11180215711802158Human
616371511GWAS1851753_Hobsolete_folic acid measurement QTL GWAS1851753 (human)8e-38obsolete_folic acid measurement11179632111796322Human
406998984GWAS647960_Hmean corpuscular volume QTL GWAS647960 (human)2e-23mean corpuscular volume11179890011798901Human
628506362GWAS2414591_Hdiastolic blood pressure QTL GWAS2414591 (human)9e-08arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179187011791871Human
597812268GWAS1679659_Hsystolic blood pressure QTL GWAS1679659 (human)3e-19systolic blood pressure11180452911804530Human
407063501GWAS712477_Hmean platelet volume QTL GWAS712477 (human)7e-13erythrocyte count11179797911797980Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
617093466GWAS2110965_Hplatelet volume QTL GWAS2110965 (human)2e-17platelet volume11180078611800787Human
628524256GWAS2432485_Hleprosy QTL GWAS2432485 (human)3e-08blood L-serine amount (VT:0010966)blood amino acid measurement (CMO:0003730)11179632111796322Human
597463562GWAS1559636_Hpulse pressure measurement, alcohol drinking QTL GWAS1559636 (human)6e-16pulse pressure measurement, alcohol drinking11180574711805748Human
407184338GWAS833314_Hfolic acid measurement QTL GWAS833314 (human)6e-14folic acid measurement11179632111796322Human
628568303GWAS2476532_Hhomocysteine measurement QTL GWAS2476532 (human)6e-69blood homocysteine amount (VT:0006076)11179632111796322Human
597090319GWAS1186393_Hmean reticulocyte volume QTL GWAS1186393 (human)1e-12blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)11179632111796322Human
407002585GWAS651561_Hpulse pressure measurement QTL GWAS651561 (human)0.000008arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)11180272111802722Human
628958945GWAS2867174_Herythrocyte volume QTL GWAS2867174 (human)8e-16erythrocyte volume11179632111796322Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
628385002GWAS2305226_Hfolic acid level QTL GWAS2305226 (human)3e-11folic acid level11179632111796322Human
628490985GWAS2399214_Hpulse pressure measurement, alcohol drinking QTL GWAS2399214 (human)6e-16drinking behavior trait (VT:0001422)pulse pressure (CMO:0000292)11180574711805748Human
628904156GWAS2812385_Hdiastolic blood pressure QTL GWAS2812385 (human)4e-80arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179890011798901Human
597992964GWAS1712263_Hdiastolic blood pressure, alcohol consumption quality QTL GWAS1712263 (human)5e-18diastolic blood pressure, alcohol consumption quality11180452911804530Human
628958428GWAS2866657_Hmean corpuscular hemoglobin concentration QTL GWAS2866657 (human)4e-24erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179632111796322Human
597983237GWAS1702536_Herythrocyte volume QTL GWAS1702536 (human)2e-23erythrocyte volume11179890011798901Human
597209657GWAS1305731_Hbirth weight, parental genotype effect measurement QTL GWAS1305731 (human)3e-13body mass (VT:0001259)neonatal body weight (CMO:0002079)11180272111802722Human
597583932GWAS1640792_Hmean corpuscular hemoglobin concentration QTL GWAS1640792 (human)4e-24mean corpuscular hemoglobin concentration11179632111796322Human
626451186GWAS2265119_Hserum creatinine amount QTL GWAS2265119 (human)9e-10serum creatinine amount11180215711802158Human
597992962GWAS1712261_Hdiastolic blood pressure, alcohol consumption quality QTL GWAS1712261 (human)3e-09diastolic blood pressure, alcohol consumption quality11179205311792054Human
597076030GWAS1172104_Hmidregional pro atrial natriuretic peptide measurement QTL GWAS1172104 (human)4e-13midregional pro atrial natriuretic peptide measurement11180452911804530Human
597097023GWAS1193097_Hfolic acid measurement QTL GWAS1193097 (human)3e-11folic acid measurement11179632111796322Human
407384547GWAS1033523_Hobsolete_red blood cell distribution width QTL GWAS1033523 (human)7e-21obsolete_red blood cell distribution width11180215711802158Human
597527600GWAS1623674_Hpreeclampsia, hypertension, pregnancy-induced QTL GWAS1623674 (human)7e-12preeclampsia, hypertension, pregnancy-induced11180574711805748Human
628365018GWAS2285862_Hfolic acid level QTL GWAS2285862 (human)6e-14folic acid level11179632111796322Human
406933491GWAS582467_Hfolic acid measurement QTL GWAS582467 (human)4e-19folic acid measurement11179632111796322Human
628490437GWAS2398666_Hdiastolic blood pressure, alcohol consumption quality QTL GWAS2398666 (human)3e-09arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179205311792054Human
597984279GWAS1703578_Hplatelet volume QTL GWAS1703578 (human)2e-14platelet volume11180272111802722Human
628955337GWAS2863566_Herythrocyte volume QTL GWAS2863566 (human)7e-20erythrocyte volume11179632111796322Human
597019169GWAS1115243_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115243 (human)3e-14arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11179746911797470Human
628530882GWAS2439111_HIGF-1 measurement QTL GWAS2439111 (human)2e-17platelet volumeblood insulin-like growth factor 1 level (CMO:0001297)11180078611800787Human
598016530GWAS1735829_Herythrocyte volume QTL GWAS1735829 (human)4e-11erythrocyte volume11179890011798901Human
407019514GWAS668490_Hatrial fibrillation QTL GWAS668490 (human)0.0000006atrial fibrillation11179245911792460Human
597828120GWAS1695511_Hglycine measurement QTL GWAS1695511 (human)3e-09glycine measurement11179632111796322Human
617096050GWAS2113549_Hmean reticulocyte volume QTL GWAS2113549 (human)5e-30mean reticulocyte volume11179632111796322Human
597036586GWAS1132660_Hdiastolic blood pressure, alcohol consumption measurement QTL GWAS1132660 (human)3e-09diastolic blood pressure, alcohol consumption measurement11179205311792054Human
628599498GWAS2507727_Hglycine measurement QTL GWAS2507727 (human)2e-08cerebral cortex morphology trait (VT:0000788)blood amino acid measurement (CMO:0003730)11179632111796322Human
628759738GWAS2667967_HX-24337 measurement QTL GWAS2667967 (human)7e-32X-24337 measurement11179632111796322Human
628402356GWAS2310585_Herythrocyte volume QTL GWAS2310585 (human)2e-23erythrocyte volume11179890011798901Human
628677819GWAS2586048_Hleft ventricular structural measurement QTL GWAS2586048 (human)3e-08heart left ventricle morphology trait (VT:0003921)heart left ventricle morphological measurement (CMO:0000951)11180272111802722Human
616375157GWAS1855399_Hobsolete_red blood cell folate measurement QTL GWAS1855399 (human)9e-12obsolete_red blood cell folate measurement11180574711805748Human
597611607GWAS1668467_Hmean corpuscular volume QTL GWAS1668467 (human)2e-30mean corpuscular volume11179632111796322Human
628747445GWAS2655674_Hhomocysteine measurement QTL GWAS2655674 (human)1e-120blood homocysteine amount (VT:0006076)11179632111796322Human
597049434GWAS1145508_Hhypertension QTL GWAS1145508 (human)4e-34hypertension11180272111802722Human
406906254GWAS555230_Hfolic acid measurement QTL GWAS555230 (human)1e-52folic acid measurement11179632111796322Human
407001996GWAS650972_Hdiastolic blood pressure QTL GWAS650972 (human)0.000002arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180272111802722Human
407001997GWAS650973_Hdiastolic blood pressure QTL GWAS650973 (human)0.000007arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)11180272111802722Human
406892946GWAS541922_Hsmoking status measurement, diastolic blood pressure QTL GWAS541922 (human)6e-10smoking status measurement, diastolic blood pressure11179746911797470Human
596984902GWAS1104421_Hsystolic blood pressure QTL GWAS1104421 (human)6e-29systolic blood pressure11180078611800787Human
628998824GWAS2907053_Hmean corpuscular hemoglobin concentration QTL GWAS2907053 (human)1e-24erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)11179632111796322Human
597097025GWAS1193099_Hhomocysteine measurement QTL GWAS1193099 (human)1e-19blood homocysteine amount (VT:0006076)11179632111796322Human
407077787GWAS726763_Hmean arterial pressure, alcohol consumption measurement QTL GWAS726763 (human)1e-20mean arterial pressure, alcohol consumption measurement11180452911804530Human
628474541GWAS2382770_Hred blood cell folate amount QTL GWAS2382770 (human)9e-12red blood cell folate amount11180574711805748Human
407000472GWAS649448_Hsmoking status measurement, diastolic blood pressure QTL GWAS649448 (human)9e-40smoking status measurement, diastolic blood pressure11180272111802722Human
628887713GWAS2795942_HX-24337 measurement QTL GWAS2795942 (human)9e-43X-24337 measurement11179632111796322Human
596953716GWAS1073235_HRed cell distribution width QTL GWAS1073235 (human)7e-21Red cell distribution width11180215711802158Human
628653720GWAS2561949_Hpreeclampsia, hypertension, pregnancy-induced QTL GWAS2561949 (human)7e-12blood pressure trait (VT:0000183)11180574711805748Human
628847770GWAS2755999_Hhypertension, pregnancy-induced QTL GWAS2755999 (human)0.0000001hypertension, pregnancy-induced11180574711805748Human
628732061GWAS2640290_HBMI-adjusted hip circumference QTL GWAS2640290 (human)4e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)11179441911794420Human
616549721GWAS1946304_Herythrocyte count QTL GWAS1946304 (human)8e-13erythrocyte count11179797911797980Human
597288062GWAS1384136_Hdiastolic blood pressure QTL GWAS1384136 (human)2e-12diastolic blood pressure11179632111796322Human
597139568GWAS1235642_Hfolic acid measurement QTL GWAS1235642 (human)1e-52folic acid measurement11179632111796322Human
628732062GWAS2640291_HBMI-adjusted hip circumference QTL GWAS2640291 (human)8e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)11179632111796322Human
407073188GWAS722164_Hpreeclampsia QTL GWAS722164 (human)5e-10preeclampsia11180272111802722Human
407361455GWAS1010431_Hhomocysteine measurement QTL GWAS1010431 (human)2e-21homocysteine measurement11179632111796322Human
628502171GWAS2410400_Hschizophrenia QTL GWAS2410400 (human)4e-15schizophrenia11179632111796322Human
597237879GWAS1333953_Hleprosy QTL GWAS1333953 (human)3e-08glomerular filtration rate11179632111796322Human
596986981GWAS1106500_Hfolic acid measurement QTL GWAS1106500 (human)8e-38folic acid measurement11179632111796322Human
407080883GWAS729859_Hmidregional pro atrial natriuretic peptide measurement QTL GWAS729859 (human)4e-13midregional pro atrial natriuretic peptide measurement11180452911804530Human
597067364GWAS1163438_Hsystolic blood pressure QTL GWAS1163438 (human)8e-17systolic blood pressure11180272111802722Human
597812306GWAS1679697_Hdiastolic blood pressure QTL GWAS1679697 (human)3e-09diastolic blood pressure11179205311792054Human
407175615GWAS824591_Hage at menopause QTL GWAS824591 (human)9e-08age at menopause11179632111796322Human
597076077GWAS1172151_Hhigh altitude adaptation QTL GWAS1172151 (human)6e-09wellness/fitness trait (VT:1000152)11179632111796322Human
597233762GWAS1329836_Hschizophrenia QTL GWAS1329836 (human)4e-15schizophrenia11179632111796322Human
597019753GWAS1115827_Hsmoking status measurement, systolic blood pressure QTL GWAS1115827 (human)2e-17arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)11179746911797470Human
616486722GWAS1883305_Hred blood cell folate amount QTL GWAS1883305 (human)9e-12red blood cell folate amount11180574711805748Human
597581921GWAS1638781_Hhypertension QTL GWAS1638781 (human)9e-27blood pressure trait (VT:0000183)11179890011798901Human
597468259GWAS1564333_HBMI-adjusted waist-hip ratio QTL GWAS1564333 (human)0.000003BMI-adjusted waist-hip ratio11180040811800409Human

Markers in Region
G67546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,862,791 - 11,863,261UniSTSGRCh37
Build 36111,785,378 - 11,785,848RGDNCBI36
Celera110,976,412 - 10,976,882RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,017,847 - 11,018,317UniSTS
G67547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,861,114 - 11,861,578UniSTSGRCh37
Build 36111,783,701 - 11,784,165RGDNCBI36
Celera110,974,748 - 10,975,212RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,016,188 - 11,016,652UniSTS
G67548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,860,217 - 11,860,498UniSTSGRCh37
Build 36111,782,804 - 11,783,085RGDNCBI36
Celera110,973,851 - 10,974,132RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,015,291 - 11,015,572UniSTS
G67549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,856,152 - 11,856,578UniSTSGRCh37
Build 36111,778,739 - 11,779,165RGDNCBI36
Celera110,969,788 - 10,970,214RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,011,228 - 11,011,654UniSTS
G67550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,855,014 - 11,855,483UniSTSGRCh37
Build 36111,777,601 - 11,778,070RGDNCBI36
Celera110,968,650 - 10,969,119RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,010,090 - 11,010,559UniSTS
G67551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,854,659 - 11,855,033UniSTSGRCh37
Build 36111,777,246 - 11,777,620RGDNCBI36
Celera110,968,295 - 10,968,669RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,009,735 - 11,010,109UniSTS
G67545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,852,240 - 11,852,575UniSTSGRCh37
Build 36111,774,827 - 11,775,162RGDNCBI36
Celera110,965,887 - 10,966,222RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,007,327 - 11,007,662UniSTS
PMC110766P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,856,306 - 11,856,417UniSTSGRCh37
Build 36111,778,893 - 11,779,004RGDNCBI36
Celera110,969,942 - 10,970,053RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,011,382 - 11,011,493UniSTS
PMC31169P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,856,349 - 11,856,506UniSTSGRCh37
Build 36111,778,936 - 11,779,093RGDNCBI36
Celera110,969,985 - 10,970,142RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,011,425 - 11,011,582UniSTS
RH63770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,855,107 - 11,855,500UniSTSGRCh37
Build 36111,777,694 - 11,778,087RGDNCBI36
Celera110,968,743 - 10,969,136RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,010,183 - 11,010,576UniSTS
GeneMap99-GB4 RH Map149.07UniSTS
AL009629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,855,782 - 11,855,906UniSTSGRCh37
Build 36111,778,369 - 11,778,493RGDNCBI36
Celera110,969,418 - 10,969,542RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,010,858 - 11,010,982UniSTS
A009L06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,846,680 - 11,846,935UniSTSGRCh37
Build 36111,769,267 - 11,769,522RGDNCBI36
Celera110,960,324 - 10,960,579RGD
Cytogenetic Map1p36UniSTS
Cytogenetic Map1p36.3UniSTS
HuRef111,001,764 - 11,002,019UniSTS
GeneMap99-GB4 RH Map147.65UniSTS
NCBI RH Map157.6UniSTS
SHGC-74205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,856,205 - 11,856,402UniSTSGRCh37
Build 36111,778,792 - 11,778,989RGDNCBI36
Celera110,969,841 - 10,970,038RGD
Cytogenetic Map1p36.3UniSTS
HuRef111,011,281 - 11,011,478UniSTS
TNG Radiation Hybrid Map16489.0UniSTS
GeneMap99-GB4 RH Map149.07UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
G32638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,846,680 - 11,846,935UniSTSGRCh37
Celera110,960,324 - 10,960,579UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36UniSTS
HuRef111,001,764 - 11,002,019UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


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 2253 4964 1726 2351 6 624 1950 465 2269 7304 6471 52 3725 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF260233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF398930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF398933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ237672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ249275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL953897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY338232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN355286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ086837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ207727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF026975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ429447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX234844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX234845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX234846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX234847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX234848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY652718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY652719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY652720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY652721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY652722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC784096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC784097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC784098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH299848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH299849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK335775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK599407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK630676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW228369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK351808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000376486   ⟹   ENSP00000365669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,796,297 - 11,806,063 (-)Ensembl
Ensembl Acc Id: ENST00000376583   ⟹   ENSP00000365767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,785,730 - 11,803,514 (-)Ensembl
Ensembl Acc Id: ENST00000376585   ⟹   ENSP00000365770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,785,732 - 11,805,413 (-)Ensembl
Ensembl Acc Id: ENST00000376590   ⟹   ENSP00000365775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,785,723 - 11,805,964 (-)Ensembl
Ensembl Acc Id: ENST00000376592   ⟹   ENSP00000365777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,785,723 - 11,805,413 (-)Ensembl
Ensembl Acc Id: ENST00000413656   ⟹   ENSP00000408307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,803,028 - 11,805,294 (-)Ensembl
Ensembl Acc Id: ENST00000418034   ⟹   ENSP00000405082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,801,205 - 11,805,936 (-)Ensembl
Ensembl Acc Id: ENST00000423400   ⟹   ENSP00000398908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,068 - 11,803,526 (-)Ensembl
Ensembl Acc Id: ENST00000431243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,801,318 - 11,805,413 (-)Ensembl
Ensembl Acc Id: ENST00000641407   ⟹   ENSP00000493098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,349 - 11,803,383 (-)Ensembl
Ensembl Acc Id: ENST00000641437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,799,857 - 11,806,006 (-)Ensembl
Ensembl Acc Id: ENST00000641446   ⟹   ENSP00000493262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,068 - 11,806,002 (-)Ensembl
Ensembl Acc Id: ENST00000641721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,795,101 - 11,803,448 (-)Ensembl
Ensembl Acc Id: ENST00000641747   ⟹   ENSP00000493116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,789,766 - 11,806,455 (-)Ensembl
Ensembl Acc Id: ENST00000641759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,566 - 11,803,526 (-)Ensembl
Ensembl Acc Id: ENST00000641805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,041 - 11,803,677 (-)Ensembl
Ensembl Acc Id: ENST00000641820   ⟹   ENSP00000492937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,642 - 11,796,545 (-)Ensembl
Ensembl Acc Id: ENST00000641909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,799,792 - 11,803,526 (-)Ensembl
Ensembl Acc Id: ENST00000642002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,801,333 - 11,806,103 (-)Ensembl
Ensembl Acc Id: ENST00000911084   ⟹   ENSP00000581143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,786,603 - 11,805,961 (-)Ensembl
Ensembl Acc Id: ENST00000911085   ⟹   ENSP00000581144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,022 - 11,806,368 (-)Ensembl
Ensembl Acc Id: ENST00000911086   ⟹   ENSP00000581145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,789,874 - 11,803,570 (-)Ensembl
Ensembl Acc Id: ENST00000911087   ⟹   ENSP00000581146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,469 - 11,803,537 (-)Ensembl
Ensembl Acc Id: ENST00000970341   ⟹   ENSP00000640400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,789,875 - 11,803,556 (-)Ensembl
Ensembl Acc Id: ENST00000970342   ⟹   ENSP00000640401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,025 - 11,803,541 (-)Ensembl
Ensembl Acc Id: ENST00000970343   ⟹   ENSP00000640402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,790,029 - 11,803,525 (-)Ensembl
RefSeq Acc Id: NM_001330358   ⟹   NP_001317287
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,803,537 (-)NCBI
T2T-CHM13v2.0111,329,802 - 11,347,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410750   ⟹   NP_001397679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,803,537 (-)NCBI
T2T-CHM13v2.0111,329,802 - 11,347,621 (-)NCBI
RefSeq Acc Id: NM_005957   ⟹   NP_005948
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,805,964 (-)NCBI
GRCh37111,845,787 - 11,866,160 (-)ENTREZGENE
Build 36111,768,374 - 11,788,702 (-)NCBI Archive
HuRef111,000,872 - 11,021,217 (-)ENTREZGENE
CHM1_1111,833,709 - 11,854,054 (-)NCBI
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263462   ⟹   XP_005263519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,805,964 (-)NCBI
GRCh37111,845,787 - 11,866,160 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263463   ⟹   XP_005263520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,802,969 (-)NCBI
GRCh37111,845,787 - 11,866,160 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541496   ⟹   XP_011539798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,803,537 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001328   ⟹   XP_016856817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,803,537 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421174   ⟹   XP_047277130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,803,537 (-)NCBI
RefSeq Acc Id: XM_047421178   ⟹   XP_047277134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,805,964 (-)NCBI
RefSeq Acc Id: XM_047421179   ⟹   XP_047277135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,805,964 (-)NCBI
RefSeq Acc Id: XM_047421180   ⟹   XP_047277136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,805,964 (-)NCBI
RefSeq Acc Id: XM_047421181   ⟹   XP_047277137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,785,723 - 11,805,964 (-)NCBI
RefSeq Acc Id: XM_054336700   ⟹   XP_054192675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,334,104 - 11,347,621 (-)NCBI
RefSeq Acc Id: XM_054336701   ⟹   XP_054192676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,334,104 - 11,347,621 (-)NCBI
RefSeq Acc Id: XM_054336702   ⟹   XP_054192677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBI
RefSeq Acc Id: XM_054336703   ⟹   XP_054192678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,334,104 - 11,347,621 (-)NCBI
RefSeq Acc Id: XM_054336704   ⟹   XP_054192679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,334,104 - 11,350,048 (-)NCBI
RefSeq Acc Id: XM_054336705   ⟹   XP_054192680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,334,104 - 11,350,048 (-)NCBI
RefSeq Acc Id: XM_054336706   ⟹   XP_054192681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,334,104 - 11,350,048 (-)NCBI
RefSeq Acc Id: XM_054336707   ⟹   XP_054192682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,329,802 - 11,347,053 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001317287 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397679 (Get FASTA)   NCBI Sequence Viewer  
  NP_005948 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263519 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263520 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539798 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856817 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277130 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277134 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277135 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277136 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192676 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192677 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192678 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192679 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192682 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD17965 (Get FASTA)   NCBI Sequence Viewer  
  AAG33979 (Get FASTA)   NCBI Sequence Viewer  
  AAH53509 (Get FASTA)   NCBI Sequence Viewer  
  AAL17646 (Get FASTA)   NCBI Sequence Viewer  
  AAL17647 (Get FASTA)   NCBI Sequence Viewer  
  AAL17648 (Get FASTA)   NCBI Sequence Viewer  
  AAL17649 (Get FASTA)   NCBI Sequence Viewer  
  AAL17650 (Get FASTA)   NCBI Sequence Viewer  
  AAL17651 (Get FASTA)   NCBI Sequence Viewer  
  AAN40863 (Get FASTA)   NCBI Sequence Viewer  
  AAN40864 (Get FASTA)   NCBI Sequence Viewer  
  AAN40865 (Get FASTA)   NCBI Sequence Viewer  
  AAP88033 (Get FASTA)   NCBI Sequence Viewer  
  AAZ03741 (Get FASTA)   NCBI Sequence Viewer  
  ABB17330 (Get FASTA)   NCBI Sequence Viewer  
  ABK34493 (Get FASTA)   NCBI Sequence Viewer  
  AFQ62002 (Get FASTA)   NCBI Sequence Viewer  
  AOP17738 (Get FASTA)   NCBI Sequence Viewer  
  AOP17739 (Get FASTA)   NCBI Sequence Viewer  
  AOP17740 (Get FASTA)   NCBI Sequence Viewer  
  AOP17741 (Get FASTA)   NCBI Sequence Viewer  
  AOP17742 (Get FASTA)   NCBI Sequence Viewer  
  ARH59657 (Get FASTA)   NCBI Sequence Viewer  
  ARH59658 (Get FASTA)   NCBI Sequence Viewer  
  ARH59659 (Get FASTA)   NCBI Sequence Viewer  
  ARH59660 (Get FASTA)   NCBI Sequence Viewer  
  ARH59661 (Get FASTA)   NCBI Sequence Viewer  
  AXI69833 (Get FASTA)   NCBI Sequence Viewer  
  BAD92350 (Get FASTA)   NCBI Sequence Viewer  
  BAG35753 (Get FASTA)   NCBI Sequence Viewer  
  CAB41971 (Get FASTA)   NCBI Sequence Viewer  
  CAB81551 (Get FASTA)   NCBI Sequence Viewer  
  CAB81552 (Get FASTA)   NCBI Sequence Viewer  
  EAW71708 (Get FASTA)   NCBI Sequence Viewer  
  EAW71709 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000365767
  ENSP00000365767.3
  ENSP00000365770.1
  ENSP00000365775
  ENSP00000365775.3
  ENSP00000365777.1
  ENSP00000398908
  ENSP00000493098
  ENSP00000581143
  ENSP00000581144
  ENSP00000581145
GenBank Protein P42898 (Get FASTA)   NCBI Sequence Viewer  
  QBQ03487 (Get FASTA)   NCBI Sequence Viewer  
  QBQ03488 (Get FASTA)   NCBI Sequence Viewer  
  QCQ29113 (Get FASTA)   NCBI Sequence Viewer  
  QCU80034 (Get FASTA)   NCBI Sequence Viewer  
  QYO90425 (Get FASTA)   NCBI Sequence Viewer  
  UDL17292 (Get FASTA)   NCBI Sequence Viewer  
  UDL17293 (Get FASTA)   NCBI Sequence Viewer  
  UDL17294 (Get FASTA)   NCBI Sequence Viewer  
  UDL17295 (Get FASTA)   NCBI Sequence Viewer  
  UDL17296 (Get FASTA)   NCBI Sequence Viewer  
  UDL17297 (Get FASTA)   NCBI Sequence Viewer  
  UDL17298 (Get FASTA)   NCBI Sequence Viewer  
  UDL17299 (Get FASTA)   NCBI Sequence Viewer  
  UDL17300 (Get FASTA)   NCBI Sequence Viewer  
  UDL17301 (Get FASTA)   NCBI Sequence Viewer  
  UDL17302 (Get FASTA)   NCBI Sequence Viewer  
  UDL17303 (Get FASTA)   NCBI Sequence Viewer  
  UDL17304 (Get FASTA)   NCBI Sequence Viewer  
  UDL17305 (Get FASTA)   NCBI Sequence Viewer  
  UDL17306 (Get FASTA)   NCBI Sequence Viewer  
  UDL17307 (Get FASTA)   NCBI Sequence Viewer  
  UDL17308 (Get FASTA)   NCBI Sequence Viewer  
  UDL17309 (Get FASTA)   NCBI Sequence Viewer  
  UDL17310 (Get FASTA)   NCBI Sequence Viewer  
  UDL17311 (Get FASTA)   NCBI Sequence Viewer  
  UDL17312 (Get FASTA)   NCBI Sequence Viewer  
  UDL17313 (Get FASTA)   NCBI Sequence Viewer  
  UDL17314 (Get FASTA)   NCBI Sequence Viewer  
  UDL17315 (Get FASTA)   NCBI Sequence Viewer  
  UDL17316 (Get FASTA)   NCBI Sequence Viewer  
  UDL17317 (Get FASTA)   NCBI Sequence Viewer  
  UDL17318 (Get FASTA)   NCBI Sequence Viewer  
  UDL17319 (Get FASTA)   NCBI Sequence Viewer  
  UDL17320 (Get FASTA)   NCBI Sequence Viewer  
  UDL17321 (Get FASTA)   NCBI Sequence Viewer  
  UDL17322 (Get FASTA)   NCBI Sequence Viewer  
  UDL17323 (Get FASTA)   NCBI Sequence Viewer  
  UDL17324 (Get FASTA)   NCBI Sequence Viewer  
  UDL17325 (Get FASTA)   NCBI Sequence Viewer  
  UDL17326 (Get FASTA)   NCBI Sequence Viewer  
  UDL17327 (Get FASTA)   NCBI Sequence Viewer  
  UDL17328 (Get FASTA)   NCBI Sequence Viewer  
  UDL17329 (Get FASTA)   NCBI Sequence Viewer  
  UDL17330 (Get FASTA)   NCBI Sequence Viewer  
  UDL17331 (Get FASTA)   NCBI Sequence Viewer  
  UDL17332 (Get FASTA)   NCBI Sequence Viewer  
  UDL17333 (Get FASTA)   NCBI Sequence Viewer  
  UDL17334 (Get FASTA)   NCBI Sequence Viewer  
  UDL17335 (Get FASTA)   NCBI Sequence Viewer  
  UDL17336 (Get FASTA)   NCBI Sequence Viewer  
  UDL17337 (Get FASTA)   NCBI Sequence Viewer  
  UDL17338 (Get FASTA)   NCBI Sequence Viewer  
  UDL17339 (Get FASTA)   NCBI Sequence Viewer  
  UDL17340 (Get FASTA)   NCBI Sequence Viewer  
  UDL17341 (Get FASTA)   NCBI Sequence Viewer  
  UDL17342 (Get FASTA)   NCBI Sequence Viewer  
  UDL17343 (Get FASTA)   NCBI Sequence Viewer  
  UDL17344 (Get FASTA)   NCBI Sequence Viewer  
  UDL17345 (Get FASTA)   NCBI Sequence Viewer  
  UDL17346 (Get FASTA)   NCBI Sequence Viewer  
  UDL17347 (Get FASTA)   NCBI Sequence Viewer  
  UDL17348 (Get FASTA)   NCBI Sequence Viewer  
  UDL17349 (Get FASTA)   NCBI Sequence Viewer  
  UDL17350 (Get FASTA)   NCBI Sequence Viewer  
  UDL17351 (Get FASTA)   NCBI Sequence Viewer  
  UDL17352 (Get FASTA)   NCBI Sequence Viewer  
  UDL17353 (Get FASTA)   NCBI Sequence Viewer  
  UDL17354 (Get FASTA)   NCBI Sequence Viewer  
  UDL17355 (Get FASTA)   NCBI Sequence Viewer  
  UDL17356 (Get FASTA)   NCBI Sequence Viewer  
  UDL17357 (Get FASTA)   NCBI Sequence Viewer  
  UDL17358 (Get FASTA)   NCBI Sequence Viewer  
  UDL17359 (Get FASTA)   NCBI Sequence Viewer  
  UDL17360 (Get FASTA)   NCBI Sequence Viewer  
  UDL17361 (Get FASTA)   NCBI Sequence Viewer  
  UDL17362 (Get FASTA)   NCBI Sequence Viewer  
  UDL17363 (Get FASTA)   NCBI Sequence Viewer  
  UDL17364 (Get FASTA)   NCBI Sequence Viewer  
  UDL17365 (Get FASTA)   NCBI Sequence Viewer  
  UDL17366 (Get FASTA)   NCBI Sequence Viewer  
  UDL17367 (Get FASTA)   NCBI Sequence Viewer  
  UDL17368 (Get FASTA)   NCBI Sequence Viewer  
  UDL17369 (Get FASTA)   NCBI Sequence Viewer  
  UDL17370 (Get FASTA)   NCBI Sequence Viewer  
  UDL17371 (Get FASTA)   NCBI Sequence Viewer  
  UDL17372 (Get FASTA)   NCBI Sequence Viewer  
  UDL17373 (Get FASTA)   NCBI Sequence Viewer  
  UDL17374 (Get FASTA)   NCBI Sequence Viewer  
  UDL17375 (Get FASTA)   NCBI Sequence Viewer  
  UDL17376 (Get FASTA)   NCBI Sequence Viewer  
  UDL17377 (Get FASTA)   NCBI Sequence Viewer  
  UDL17378 (Get FASTA)   NCBI Sequence Viewer  
  UDL17379 (Get FASTA)   NCBI Sequence Viewer  
  UDL17380 (Get FASTA)   NCBI Sequence Viewer  
  UDL17381 (Get FASTA)   NCBI Sequence Viewer  
  UDL17382 (Get FASTA)   NCBI Sequence Viewer  
  UDL17383 (Get FASTA)   NCBI Sequence Viewer  
  UDL17384 (Get FASTA)   NCBI Sequence Viewer  
  UDL17385 (Get FASTA)   NCBI Sequence Viewer  
  UDL17386 (Get FASTA)   NCBI Sequence Viewer  
  UDL17387 (Get FASTA)   NCBI Sequence Viewer  
  UDL17388 (Get FASTA)   NCBI Sequence Viewer  
  UDL17389 (Get FASTA)   NCBI Sequence Viewer  
  UDL17390 (Get FASTA)   NCBI Sequence Viewer  
  UDL17391 (Get FASTA)   NCBI Sequence Viewer  
  UDL17392 (Get FASTA)   NCBI Sequence Viewer  
  UDL17393 (Get FASTA)   NCBI Sequence Viewer  
  UDL17394 (Get FASTA)   NCBI Sequence Viewer  
  UDL17395 (Get FASTA)   NCBI Sequence Viewer  
  UDL17396 (Get FASTA)   NCBI Sequence Viewer  
  UDL17397 (Get FASTA)   NCBI Sequence Viewer  
  UDL17398 (Get FASTA)   NCBI Sequence Viewer  
  UDL17399 (Get FASTA)   NCBI Sequence Viewer  
  UDL17400 (Get FASTA)   NCBI Sequence Viewer  
  UDL17401 (Get FASTA)   NCBI Sequence Viewer  
  UDL17402 (Get FASTA)   NCBI Sequence Viewer  
  UDL17403 (Get FASTA)   NCBI Sequence Viewer  
  UDL17404 (Get FASTA)   NCBI Sequence Viewer  
  UDL17405 (Get FASTA)   NCBI Sequence Viewer  
  UDL17406 (Get FASTA)   NCBI Sequence Viewer  
  UDL17407 (Get FASTA)   NCBI Sequence Viewer  
  UDL17408 (Get FASTA)   NCBI Sequence Viewer  
  UDL17409 (Get FASTA)   NCBI Sequence Viewer  
  UDL17410 (Get FASTA)   NCBI Sequence Viewer  
  UDL17411 (Get FASTA)   NCBI Sequence Viewer  
  UDL17412 (Get FASTA)   NCBI Sequence Viewer  
  UDL17413 (Get FASTA)   NCBI Sequence Viewer  
  UDL17414 (Get FASTA)   NCBI Sequence Viewer  
  UDL17415 (Get FASTA)   NCBI Sequence Viewer  
  UDL17416 (Get FASTA)   NCBI Sequence Viewer  
  UDL17417 (Get FASTA)   NCBI Sequence Viewer  
  UDL17418 (Get FASTA)   NCBI Sequence Viewer  
  UDL17419 (Get FASTA)   NCBI Sequence Viewer  
  UDL17420 (Get FASTA)   NCBI Sequence Viewer  
  UDL17421 (Get FASTA)   NCBI Sequence Viewer  
  UDL17422 (Get FASTA)   NCBI Sequence Viewer  
  UDL17423 (Get FASTA)   NCBI Sequence Viewer  
  UDL17424 (Get FASTA)   NCBI Sequence Viewer  
  UDL17425 (Get FASTA)   NCBI Sequence Viewer  
  UDL17426 (Get FASTA)   NCBI Sequence Viewer  
  UDL17427 (Get FASTA)   NCBI Sequence Viewer  
  UDL17428 (Get FASTA)   NCBI Sequence Viewer  
  UDL17429 (Get FASTA)   NCBI Sequence Viewer  
  UDL17430 (Get FASTA)   NCBI Sequence Viewer  
  UDL17431 (Get FASTA)   NCBI Sequence Viewer  
  UDL17432 (Get FASTA)   NCBI Sequence Viewer  
  UDL17433 (Get FASTA)   NCBI Sequence Viewer  
  UDL17434 (Get FASTA)   NCBI Sequence Viewer  
  UDL17435 (Get FASTA)   NCBI Sequence Viewer  
  UDL17436 (Get FASTA)   NCBI Sequence Viewer  
  UDL17437 (Get FASTA)   NCBI Sequence Viewer  
  UDL17438 (Get FASTA)   NCBI Sequence Viewer  
  UDL17439 (Get FASTA)   NCBI Sequence Viewer  
  UDL17440 (Get FASTA)   NCBI Sequence Viewer  
  UDL17441 (Get FASTA)   NCBI Sequence Viewer  
  UDL17442 (Get FASTA)   NCBI Sequence Viewer  
  UDL17443 (Get FASTA)   NCBI Sequence Viewer  
  UDL17444 (Get FASTA)   NCBI Sequence Viewer  
  UDL17445 (Get FASTA)   NCBI Sequence Viewer  
  UDL17446 (Get FASTA)   NCBI Sequence Viewer  
  UDL17447 (Get FASTA)   NCBI Sequence Viewer  
  UDL17448 (Get FASTA)   NCBI Sequence Viewer  
  UDL17449 (Get FASTA)   NCBI Sequence Viewer  
  UDL17450 (Get FASTA)   NCBI Sequence Viewer  
  UDL17451 (Get FASTA)   NCBI Sequence Viewer  
  UDL17452 (Get FASTA)   NCBI Sequence Viewer  
  UDL17453 (Get FASTA)   NCBI Sequence Viewer  
  UDL17454 (Get FASTA)   NCBI Sequence Viewer  
  UDL17455 (Get FASTA)   NCBI Sequence Viewer  
  UDL17456 (Get FASTA)   NCBI Sequence Viewer  
  UDL17457 (Get FASTA)   NCBI Sequence Viewer  
  UDL17458 (Get FASTA)   NCBI Sequence Viewer  
  UDL17459 (Get FASTA)   NCBI Sequence Viewer  
  UDL17460 (Get FASTA)   NCBI Sequence Viewer  
  UDL17461 (Get FASTA)   NCBI Sequence Viewer  
  UDL17462 (Get FASTA)   NCBI Sequence Viewer  
  UDL17463 (Get FASTA)   NCBI Sequence Viewer  
  UDL17464 (Get FASTA)   NCBI Sequence Viewer  
  UDL17465 (Get FASTA)   NCBI Sequence Viewer  
  UDL17466 (Get FASTA)   NCBI Sequence Viewer  
  UDL17467 (Get FASTA)   NCBI Sequence Viewer  
  UDL17468 (Get FASTA)   NCBI Sequence Viewer  
  UDL17469 (Get FASTA)   NCBI Sequence Viewer  
  UDL17470 (Get FASTA)   NCBI Sequence Viewer  
  UDL17471 (Get FASTA)   NCBI Sequence Viewer  
  UDL17472 (Get FASTA)   NCBI Sequence Viewer  
  UDL17473 (Get FASTA)   NCBI Sequence Viewer  
  UDL17474 (Get FASTA)   NCBI Sequence Viewer  
  UDL17475 (Get FASTA)   NCBI Sequence Viewer  
  UDL17476 (Get FASTA)   NCBI Sequence Viewer  
  UDL17477 (Get FASTA)   NCBI Sequence Viewer  
  UDL17478 (Get FASTA)   NCBI Sequence Viewer  
  UDL17479 (Get FASTA)   NCBI Sequence Viewer  
  UDL17480 (Get FASTA)   NCBI Sequence Viewer  
  UDL17481 (Get FASTA)   NCBI Sequence Viewer  
  UDL17482 (Get FASTA)   NCBI Sequence Viewer  
  UDL17483 (Get FASTA)   NCBI Sequence Viewer  
  UDL17484 (Get FASTA)   NCBI Sequence Viewer  
  UDL17485 (Get FASTA)   NCBI Sequence Viewer  
  UDL17486 (Get FASTA)   NCBI Sequence Viewer  
  UDL17487 (Get FASTA)   NCBI Sequence Viewer  
  UDL17488 (Get FASTA)   NCBI Sequence Viewer  
  UDL17489 (Get FASTA)   NCBI Sequence Viewer  
  UDL17490 (Get FASTA)   NCBI Sequence Viewer  
  UDL17491 (Get FASTA)   NCBI Sequence Viewer  
  UDL17492 (Get FASTA)   NCBI Sequence Viewer  
  UDL17493 (Get FASTA)   NCBI Sequence Viewer  
  UDL17494 (Get FASTA)   NCBI Sequence Viewer  
  UDL17495 (Get FASTA)   NCBI Sequence Viewer  
  UDL17496 (Get FASTA)   NCBI Sequence Viewer  
  UDL17497 (Get FASTA)   NCBI Sequence Viewer  
  UDL17498 (Get FASTA)   NCBI Sequence Viewer  
  UDL17499 (Get FASTA)   NCBI Sequence Viewer  
  UDL17500 (Get FASTA)   NCBI Sequence Viewer  
  UDL17501 (Get FASTA)   NCBI Sequence Viewer  
  UDL17502 (Get FASTA)   NCBI Sequence Viewer  
  UDL17503 (Get FASTA)   NCBI Sequence Viewer  
  UDL17504 (Get FASTA)   NCBI Sequence Viewer  
  UDL17505 (Get FASTA)   NCBI Sequence Viewer  
  UDL17506 (Get FASTA)   NCBI Sequence Viewer  
  UDL17507 (Get FASTA)   NCBI Sequence Viewer  
  UDL17508 (Get FASTA)   NCBI Sequence Viewer  
  UDL17509 (Get FASTA)   NCBI Sequence Viewer  
  UDL17510 (Get FASTA)   NCBI Sequence Viewer  
  UDL17511 (Get FASTA)   NCBI Sequence Viewer  
  UDL17512 (Get FASTA)   NCBI Sequence Viewer  
  UDL17513 (Get FASTA)   NCBI Sequence Viewer  
  UDL17514 (Get FASTA)   NCBI Sequence Viewer  
  UDL17515 (Get FASTA)   NCBI Sequence Viewer  
  UDL17740 (Get FASTA)   NCBI Sequence Viewer  
  UDL17741 (Get FASTA)   NCBI Sequence Viewer  
  UDL17742 (Get FASTA)   NCBI Sequence Viewer  
  UDL17743 (Get FASTA)   NCBI Sequence Viewer  
  UDL17744 (Get FASTA)   NCBI Sequence Viewer  
  UDL17745 (Get FASTA)   NCBI Sequence Viewer  
  UDL17746 (Get FASTA)   NCBI Sequence Viewer  
  UDL17747 (Get FASTA)   NCBI Sequence Viewer  
  UDL17748 (Get FASTA)   NCBI Sequence Viewer  
  UDL17749 (Get FASTA)   NCBI Sequence Viewer  
  UDL17750 (Get FASTA)   NCBI Sequence Viewer  
  UDL17751 (Get FASTA)   NCBI Sequence Viewer  
  UDL17752 (Get FASTA)   NCBI Sequence Viewer  
  UDL17753 (Get FASTA)   NCBI Sequence Viewer  
  UDL17754 (Get FASTA)   NCBI Sequence Viewer  
  UDL17755 (Get FASTA)   NCBI Sequence Viewer  
  UDL17756 (Get FASTA)   NCBI Sequence Viewer  
  UDL17757 (Get FASTA)   NCBI Sequence Viewer  
  UDL17758 (Get FASTA)   NCBI Sequence Viewer  
  UDL17759 (Get FASTA)   NCBI Sequence Viewer  
  UDL17760 (Get FASTA)   NCBI Sequence Viewer  
  UDL17761 (Get FASTA)   NCBI Sequence Viewer  
  UDL17762 (Get FASTA)   NCBI Sequence Viewer  
  UDL17763 (Get FASTA)   NCBI Sequence Viewer  
  UDL17764 (Get FASTA)   NCBI Sequence Viewer  
  UDL17765 (Get FASTA)   NCBI Sequence Viewer  
  UDL17766 (Get FASTA)   NCBI Sequence Viewer  
  UDL17767 (Get FASTA)   NCBI Sequence Viewer  
  UDL17768 (Get FASTA)   NCBI Sequence Viewer  
  UDL17769 (Get FASTA)   NCBI Sequence Viewer  
  UDL17770 (Get FASTA)   NCBI Sequence Viewer  
  UDL17771 (Get FASTA)   NCBI Sequence Viewer  
  UDL17772 (Get FASTA)   NCBI Sequence Viewer  
  UDL17773 (Get FASTA)   NCBI Sequence Viewer  
  UDL17774 (Get FASTA)   NCBI Sequence Viewer  
  UDL17775 (Get FASTA)   NCBI Sequence Viewer  
  UDL17776 (Get FASTA)   NCBI Sequence Viewer  
  UDL17777 (Get FASTA)   NCBI Sequence Viewer  
  UDL17778 (Get FASTA)   NCBI Sequence Viewer  
  UDL17779 (Get FASTA)   NCBI Sequence Viewer  
  UDL17780 (Get FASTA)   NCBI Sequence Viewer  
  UDL17781 (Get FASTA)   NCBI Sequence Viewer  
  UDL17782 (Get FASTA)   NCBI Sequence Viewer  
  UDL17783 (Get FASTA)   NCBI Sequence Viewer  
  UDL17784 (Get FASTA)   NCBI Sequence Viewer  
  UDL17785 (Get FASTA)   NCBI Sequence Viewer  
  UDL17786 (Get FASTA)   NCBI Sequence Viewer  
  UDL17787 (Get FASTA)   NCBI Sequence Viewer  
  UDL17788 (Get FASTA)   NCBI Sequence Viewer  
  UDL17789 (Get FASTA)   NCBI Sequence Viewer  
  UDL17790 (Get FASTA)   NCBI Sequence Viewer  
  UDL17791 (Get FASTA)   NCBI Sequence Viewer  
  UDL17792 (Get FASTA)   NCBI Sequence Viewer  
  UDL17793 (Get FASTA)   NCBI Sequence Viewer  
  UDL17794 (Get FASTA)   NCBI Sequence Viewer  
  UDL17795 (Get FASTA)   NCBI Sequence Viewer  
  UDL17796 (Get FASTA)   NCBI Sequence Viewer  
  UDL17797 (Get FASTA)   NCBI Sequence Viewer  
  UDL17798 (Get FASTA)   NCBI Sequence Viewer  
  UDL17799 (Get FASTA)   NCBI Sequence Viewer  
  UDL17800 (Get FASTA)   NCBI Sequence Viewer  
  UDL17801 (Get FASTA)   NCBI Sequence Viewer  
  UDL17802 (Get FASTA)   NCBI Sequence Viewer  
  UDL17803 (Get FASTA)   NCBI Sequence Viewer  
  UDL17804 (Get FASTA)   NCBI Sequence Viewer  
  UDL17805 (Get FASTA)   NCBI Sequence Viewer  
  UDL17806 (Get FASTA)   NCBI Sequence Viewer  
  UDL17807 (Get FASTA)   NCBI Sequence Viewer  
  UDL17808 (Get FASTA)   NCBI Sequence Viewer  
  UDL17809 (Get FASTA)   NCBI Sequence Viewer  
  UDL17810 (Get FASTA)   NCBI Sequence Viewer  
  UDL17811 (Get FASTA)   NCBI Sequence Viewer  
  UDL17812 (Get FASTA)   NCBI Sequence Viewer  
  UDL17813 (Get FASTA)   NCBI Sequence Viewer  
  UDL17814 (Get FASTA)   NCBI Sequence Viewer  
  UDL17815 (Get FASTA)   NCBI Sequence Viewer  
  UDL17816 (Get FASTA)   NCBI Sequence Viewer  
  UDL17817 (Get FASTA)   NCBI Sequence Viewer  
  UDL17818 (Get FASTA)   NCBI Sequence Viewer  
  UDL17819 (Get FASTA)   NCBI Sequence Viewer  
  UDL17820 (Get FASTA)   NCBI Sequence Viewer  
  UDL17821 (Get FASTA)   NCBI Sequence Viewer  
  UDL17822 (Get FASTA)   NCBI Sequence Viewer  
  UDL17823 (Get FASTA)   NCBI Sequence Viewer  
  UDL17824 (Get FASTA)   NCBI Sequence Viewer  
  UDL17825 (Get FASTA)   NCBI Sequence Viewer  
  UDL17826 (Get FASTA)   NCBI Sequence Viewer  
  UDL17827 (Get FASTA)   NCBI Sequence Viewer  
  UDL17828 (Get FASTA)   NCBI Sequence Viewer  
  UDL17829 (Get FASTA)   NCBI Sequence Viewer  
  UDL17830 (Get FASTA)   NCBI Sequence Viewer  
  UDL17831 (Get FASTA)   NCBI Sequence Viewer  
  UDL17832 (Get FASTA)   NCBI Sequence Viewer  
  UDL17833 (Get FASTA)   NCBI Sequence Viewer  
  UDL17834 (Get FASTA)   NCBI Sequence Viewer  
  UDL17835 (Get FASTA)   NCBI Sequence Viewer  
  UDL17836 (Get FASTA)   NCBI Sequence Viewer  
  UDL17837 (Get FASTA)   NCBI Sequence Viewer  
  UDL17838 (Get FASTA)   NCBI Sequence Viewer  
  UDL17839 (Get FASTA)   NCBI Sequence Viewer  
  UDL17840 (Get FASTA)   NCBI Sequence Viewer  
  UDL17841 (Get FASTA)   NCBI Sequence Viewer  
  UDL17842 (Get FASTA)   NCBI Sequence Viewer  
  UDL17843 (Get FASTA)   NCBI Sequence Viewer  
  UDL17844 (Get FASTA)   NCBI Sequence Viewer  
  UDL17845 (Get FASTA)   NCBI Sequence Viewer  
  UDL17846 (Get FASTA)   NCBI Sequence Viewer  
  UDL17847 (Get FASTA)   NCBI Sequence Viewer  
  UDL17848 (Get FASTA)   NCBI Sequence Viewer  
  UDL17849 (Get FASTA)   NCBI Sequence Viewer  
  UDL17850 (Get FASTA)   NCBI Sequence Viewer  
  UDL17851 (Get FASTA)   NCBI Sequence Viewer  
  UDL17852 (Get FASTA)   NCBI Sequence Viewer  
  UDL17853 (Get FASTA)   NCBI Sequence Viewer  
  UDL17854 (Get FASTA)   NCBI Sequence Viewer  
  UDL17855 (Get FASTA)   NCBI Sequence Viewer  
  UDL17856 (Get FASTA)   NCBI Sequence Viewer  
  UDL17857 (Get FASTA)   NCBI Sequence Viewer  
  UDL17858 (Get FASTA)   NCBI Sequence Viewer  
  UDL17859 (Get FASTA)   NCBI Sequence Viewer  
  UDL17860 (Get FASTA)   NCBI Sequence Viewer  
  UDL17861 (Get FASTA)   NCBI Sequence Viewer  
  UDL17862 (Get FASTA)   NCBI Sequence Viewer  
  UDL17863 (Get FASTA)   NCBI Sequence Viewer  
  UDL17864 (Get FASTA)   NCBI Sequence Viewer  
  UDL17865 (Get FASTA)   NCBI Sequence Viewer  
  UDL17866 (Get FASTA)   NCBI Sequence Viewer  
  UDL17867 (Get FASTA)   NCBI Sequence Viewer  
  UDL17868 (Get FASTA)   NCBI Sequence Viewer  
  UDL17869 (Get FASTA)   NCBI Sequence Viewer  
  UDL17870 (Get FASTA)   NCBI Sequence Viewer  
  UDL17871 (Get FASTA)   NCBI Sequence Viewer  
  UDL17872 (Get FASTA)   NCBI Sequence Viewer  
  UDL17873 (Get FASTA)   NCBI Sequence Viewer  
  UDL17874 (Get FASTA)   NCBI Sequence Viewer  
  UDL17875 (Get FASTA)   NCBI Sequence Viewer  
  UDL17876 (Get FASTA)   NCBI Sequence Viewer  
  UDL17877 (Get FASTA)   NCBI Sequence Viewer  
  UDL17878 (Get FASTA)   NCBI Sequence Viewer  
  UDL17879 (Get FASTA)   NCBI Sequence Viewer  
  UDL17880 (Get FASTA)   NCBI Sequence Viewer  
  UDL17881 (Get FASTA)   NCBI Sequence Viewer  
  UDL17882 (Get FASTA)   NCBI Sequence Viewer  
  UDL17883 (Get FASTA)   NCBI Sequence Viewer  
  UDL17884 (Get FASTA)   NCBI Sequence Viewer  
  UDL17885 (Get FASTA)   NCBI Sequence Viewer  
  UDL17886 (Get FASTA)   NCBI Sequence Viewer  
  UDL17887 (Get FASTA)   NCBI Sequence Viewer  
  UDL17888 (Get FASTA)   NCBI Sequence Viewer  
  UDL17889 (Get FASTA)   NCBI Sequence Viewer  
  UDL17890 (Get FASTA)   NCBI Sequence Viewer  
  UDL17891 (Get FASTA)   NCBI Sequence Viewer  
  UDL17892 (Get FASTA)   NCBI Sequence Viewer  
  UDL17893 (Get FASTA)   NCBI Sequence Viewer  
  UDL17894 (Get FASTA)   NCBI Sequence Viewer  
  UDL17895 (Get FASTA)   NCBI Sequence Viewer  
  UDL17896 (Get FASTA)   NCBI Sequence Viewer  
  UDL17897 (Get FASTA)   NCBI Sequence Viewer  
  UDL17898 (Get FASTA)   NCBI Sequence Viewer  
  UDL17899 (Get FASTA)   NCBI Sequence Viewer  
  UDL17900 (Get FASTA)   NCBI Sequence Viewer  
  UDL17901 (Get FASTA)   NCBI Sequence Viewer  
  UDL17902 (Get FASTA)   NCBI Sequence Viewer  
  UDL17903 (Get FASTA)   NCBI Sequence Viewer  
  UDL17904 (Get FASTA)   NCBI Sequence Viewer  
  UDL17905 (Get FASTA)   NCBI Sequence Viewer  
  UDL17906 (Get FASTA)   NCBI Sequence Viewer  
  UDL17907 (Get FASTA)   NCBI Sequence Viewer  
  UDL17908 (Get FASTA)   NCBI Sequence Viewer  
  UDL17909 (Get FASTA)   NCBI Sequence Viewer  
  UDL17910 (Get FASTA)   NCBI Sequence Viewer  
  UDL17911 (Get FASTA)   NCBI Sequence Viewer  
  UDL17912 (Get FASTA)   NCBI Sequence Viewer  
  UDL17913 (Get FASTA)   NCBI Sequence Viewer  
  UDL17914 (Get FASTA)   NCBI Sequence Viewer  
  UDL17915 (Get FASTA)   NCBI Sequence Viewer  
  UDL17916 (Get FASTA)   NCBI Sequence Viewer  
  UDL17917 (Get FASTA)   NCBI Sequence Viewer  
  UDL17918 (Get FASTA)   NCBI Sequence Viewer  
  UDL17919 (Get FASTA)   NCBI Sequence Viewer  
  UDL17920 (Get FASTA)   NCBI Sequence Viewer  
  UDL17921 (Get FASTA)   NCBI Sequence Viewer  
  UDL17922 (Get FASTA)   NCBI Sequence Viewer  
  UDL17923 (Get FASTA)   NCBI Sequence Viewer  
  UDL17924 (Get FASTA)   NCBI Sequence Viewer  
  UDL17925 (Get FASTA)   NCBI Sequence Viewer  
  UDL17926 (Get FASTA)   NCBI Sequence Viewer  
  UDL17927 (Get FASTA)   NCBI Sequence Viewer  
  UDL17928 (Get FASTA)   NCBI Sequence Viewer  
  UDL17929 (Get FASTA)   NCBI Sequence Viewer  
  UDL17930 (Get FASTA)   NCBI Sequence Viewer  
  UDL17931 (Get FASTA)   NCBI Sequence Viewer  
  UDL17932 (Get FASTA)   NCBI Sequence Viewer  
  UDL17933 (Get FASTA)   NCBI Sequence Viewer  
  UDL17934 (Get FASTA)   NCBI Sequence Viewer  
  UDL17935 (Get FASTA)   NCBI Sequence Viewer  
  UDL17936 (Get FASTA)   NCBI Sequence Viewer  
  UDL17937 (Get FASTA)   NCBI Sequence Viewer  
  UDL17938 (Get FASTA)   NCBI Sequence Viewer  
  UDL17939 (Get FASTA)   NCBI Sequence Viewer  
  UDL17940 (Get FASTA)   NCBI Sequence Viewer  
  UDL17941 (Get FASTA)   NCBI Sequence Viewer  
  UDL17942 (Get FASTA)   NCBI Sequence Viewer  
  UDL17943 (Get FASTA)   NCBI Sequence Viewer  
  UDL17944 (Get FASTA)   NCBI Sequence Viewer  
  UDL17945 (Get FASTA)   NCBI Sequence Viewer  
  UDL17946 (Get FASTA)   NCBI Sequence Viewer  
  UDL17947 (Get FASTA)   NCBI Sequence Viewer  
  UDL17948 (Get FASTA)   NCBI Sequence Viewer  
  UDL17949 (Get FASTA)   NCBI Sequence Viewer  
  UDL17950 (Get FASTA)   NCBI Sequence Viewer  
  UDL17951 (Get FASTA)   NCBI Sequence Viewer  
  UDL17952 (Get FASTA)   NCBI Sequence Viewer  
  UDL17953 (Get FASTA)   NCBI Sequence Viewer  
  UDL17954 (Get FASTA)   NCBI Sequence Viewer  
  UDL17955 (Get FASTA)   NCBI Sequence Viewer  
  UDL17956 (Get FASTA)   NCBI Sequence Viewer  
  UDL17957 (Get FASTA)   NCBI Sequence Viewer  
  UDL17958 (Get FASTA)   NCBI Sequence Viewer  
  UDL17959 (Get FASTA)   NCBI Sequence Viewer  
  UDL17960 (Get FASTA)   NCBI Sequence Viewer  
  UDL17961 (Get FASTA)   NCBI Sequence Viewer  
  UDL17962 (Get FASTA)   NCBI Sequence Viewer  
  UDL17963 (Get FASTA)   NCBI Sequence Viewer  
  UDL17964 (Get FASTA)   NCBI Sequence Viewer  
  UDL17965 (Get FASTA)   NCBI Sequence Viewer  
  UDL17976 (Get FASTA)   NCBI Sequence Viewer  
  UDL17977 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005948   ⟸   NM_005957
- Peptide Label: isoform 2
- UniProtKB: Q8IU73 (UniProtKB/Swiss-Prot),   Q7Z6M6 (UniProtKB/Swiss-Prot),   Q5SNW9 (UniProtKB/Swiss-Prot),   Q5SNW6 (UniProtKB/Swiss-Prot),   B2R7A6 (UniProtKB/Swiss-Prot),   Q9UQR2 (UniProtKB/Swiss-Prot),   P42898 (UniProtKB/Swiss-Prot),   A0A286YF17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263520   ⟸   XM_005263463
- Peptide Label: isoform X7
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263519   ⟸   XM_005263462
- Peptide Label: isoform X3
- UniProtKB: Q8IU73 (UniProtKB/Swiss-Prot),   Q7Z6M6 (UniProtKB/Swiss-Prot),   Q5SNW9 (UniProtKB/Swiss-Prot),   Q5SNW6 (UniProtKB/Swiss-Prot),   B2R7A6 (UniProtKB/Swiss-Prot),   Q9UQR2 (UniProtKB/Swiss-Prot),   P42898 (UniProtKB/Swiss-Prot),   A0A286YF17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539798   ⟸   XM_011541496
- Peptide Label: isoform X1
- UniProtKB: Q59GJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856817   ⟸   XM_017001328
- Peptide Label: isoform X4
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317287   ⟸   NM_001330358
- Peptide Label: isoform 1
- UniProtKB: Q59GJ6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000398908   ⟸   ENST00000423400
Ensembl Acc Id: ENSP00000408307   ⟸   ENST00000413656
Ensembl Acc Id: ENSP00000365669   ⟸   ENST00000376486
Ensembl Acc Id: ENSP00000365770   ⟸   ENST00000376585
Ensembl Acc Id: ENSP00000365767   ⟸   ENST00000376583
Ensembl Acc Id: ENSP00000365777   ⟸   ENST00000376592
Ensembl Acc Id: ENSP00000365775   ⟸   ENST00000376590
Ensembl Acc Id: ENSP00000405082   ⟸   ENST00000418034
Ensembl Acc Id: ENSP00000493098   ⟸   ENST00000641407
Ensembl Acc Id: ENSP00000493262   ⟸   ENST00000641446
Ensembl Acc Id: ENSP00000492937   ⟸   ENST00000641820
Ensembl Acc Id: ENSP00000493116   ⟸   ENST00000641747
RefSeq Acc Id: XP_047277137   ⟸   XM_047421181
- Peptide Label: isoform X6
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277135   ⟸   XM_047421179
- Peptide Label: isoform X5
- UniProtKB: A0A286YFD0 (UniProtKB/TrEMBL),   Q59GJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277136   ⟸   XM_047421180
- Peptide Label: isoform X6
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277134   ⟸   XM_047421178
- Peptide Label: isoform X3
- UniProtKB: Q8IU73 (UniProtKB/Swiss-Prot),   Q7Z6M6 (UniProtKB/Swiss-Prot),   Q5SNW9 (UniProtKB/Swiss-Prot),   Q5SNW6 (UniProtKB/Swiss-Prot),   P42898 (UniProtKB/Swiss-Prot),   B2R7A6 (UniProtKB/Swiss-Prot),   Q9UQR2 (UniProtKB/Swiss-Prot),   A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277130   ⟸   XM_047421174
- Peptide Label: isoform X2
- UniProtKB: Q59GJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397679   ⟸   NM_001410750
- Peptide Label: isoform 3
- UniProtKB: Q5SNW7 (UniProtKB/TrEMBL),   Q59GJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192677   ⟸   XM_054336702
- Peptide Label: isoform X3
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192682   ⟸   XM_054336707
- Peptide Label: isoform X7
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192681   ⟸   XM_054336706
- Peptide Label: isoform X6
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192679   ⟸   XM_054336704
- Peptide Label: isoform X5
- UniProtKB: Q59GJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192680   ⟸   XM_054336705
- Peptide Label: isoform X6
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192676   ⟸   XM_054336701
- Peptide Label: isoform X2
- UniProtKB: Q59GJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192675   ⟸   XM_054336700
- Peptide Label: isoform X1
- UniProtKB: Q59GJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192678   ⟸   XM_054336703
- Peptide Label: isoform X4
- UniProtKB: A0A286YF17 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000581146   ⟸   ENST00000911087
Ensembl Acc Id: ENSP00000640402   ⟸   ENST00000970343
Ensembl Acc Id: ENSP00000581144   ⟸   ENST00000911085
Ensembl Acc Id: ENSP00000581143   ⟸   ENST00000911084
Ensembl Acc Id: ENSP00000640400   ⟸   ENST00000970341
Ensembl Acc Id: ENSP00000640401   ⟸   ENST00000970342
Ensembl Acc Id: ENSP00000581145   ⟸   ENST00000911086
Protein Domains
MTHFR SAM-binding regulatory

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P42898-F1-model_v2 AlphaFold P42898 1-656 view protein structure

Promoters
RGD ID:6786082
Promoter ID:HG_KWN:704
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376583,   UC001ATB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,785,536 - 11,786,467 (-)MPROMDB
RGD ID:6786078
Promoter ID:HG_KWN:705
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376585,   NM_005957,   OTTHUMT00000006540,   OTTHUMT00000006541,   OTTHUMT00000006542,   OTTHUMT00000006545,   UC001ATD.1,   UC009VND.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,787,756 - 11,789,037 (-)MPROMDB
RGD ID:6854112
Promoter ID:EPDNEW_H221
Type:initiation region
Name:MTHFR_1
Description:methylenetetrahydrofolate reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H222  EPDNEW_H223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,803,537 - 11,803,597EPDNEW
RGD ID:6854114
Promoter ID:EPDNEW_H222
Type:initiation region
Name:MTHFR_3
Description:methylenetetrahydrofolate reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H221  EPDNEW_H223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,805,479 - 11,805,539EPDNEW
RGD ID:6854116
Promoter ID:EPDNEW_H223
Type:initiation region
Name:MTHFR_2
Description:methylenetetrahydrofolate reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H221  EPDNEW_H222  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,805,964 - 11,806,024EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7436 AgrOrtholog
COSMIC MTHFR COSMIC
Ensembl Genes ENSG00000177000 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376583 ENTREZGENE
  ENST00000376583.7 UniProtKB/Swiss-Prot
  ENST00000376585.6 UniProtKB/Swiss-Prot
  ENST00000376590 ENTREZGENE
  ENST00000376590.9 UniProtKB/Swiss-Prot
  ENST00000376592.6 UniProtKB/Swiss-Prot
  ENST00000423400 ENTREZGENE
  ENST00000641407 ENTREZGENE
  ENST00000911084 ENTREZGENE
  ENST00000911085 ENTREZGENE
  ENST00000911086 ENTREZGENE
Gene3D-CATH 3.20.20.220 UniProtKB/Swiss-Prot
GTEx ENSG00000177000 GTEx
HGNC ID HGNC:7436 ENTREZGENE
Human Proteome Map MTHFR Human Proteome Map
InterPro FAD-linked_oxidoreductase-like UniProtKB/Swiss-Prot
  Fadh2_euk UniProtKB/Swiss-Prot
  Mehydrof_redctse UniProtKB/Swiss-Prot
  MTHFR_C UniProtKB/Swiss-Prot
KEGG Report hsa:4524 UniProtKB/Swiss-Prot
NCBI Gene 4524 ENTREZGENE
OMIM 607093 OMIM
PANTHER METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/Swiss-Prot
  METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/Swiss-Prot
Pfam MTHFR UniProtKB/Swiss-Prot
  MTHFR_C UniProtKB/Swiss-Prot
PharmGKB MTHFR RGD, PharmGKB
Superfamily-SCOP SSF51730 UniProtKB/Swiss-Prot
UniProt A0A1B0GXD9_HUMAN UniProtKB/TrEMBL
  A0A1C9J7R9_HUMAN UniProtKB/TrEMBL
  A0A1W5XGE6_HUMAN UniProtKB/TrEMBL
  A0A286YF17 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YF47_HUMAN UniProtKB/TrEMBL
  A0A286YFD0 ENTREZGENE, UniProtKB/TrEMBL
  A0A482KE01_HUMAN UniProtKB/TrEMBL
  A0A482KFZ6_HUMAN UniProtKB/TrEMBL
  A0A4P8L6T5_HUMAN UniProtKB/TrEMBL
  A0MPA5_HUMAN UniProtKB/TrEMBL
  B2R7A6 ENTREZGENE
  F8W9T8_HUMAN UniProtKB/TrEMBL
  L7P8G6_HUMAN UniProtKB/TrEMBL
  MTHR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4FE54_HUMAN UniProtKB/TrEMBL
  Q59GJ6 ENTREZGENE, UniProtKB/TrEMBL
  Q5SNW5_HUMAN UniProtKB/TrEMBL
  Q5SNW6 ENTREZGENE
  Q5SNW7 ENTREZGENE, UniProtKB/TrEMBL
  Q5SNW9 ENTREZGENE
  Q7Z6M6 ENTREZGENE
  Q8IU67_HUMAN UniProtKB/TrEMBL
  Q8IU73 ENTREZGENE
  Q9NY62_HUMAN UniProtKB/TrEMBL
  Q9NY63_HUMAN UniProtKB/TrEMBL
  Q9UQR2 ENTREZGENE
UniProt Secondary B2R7A6 UniProtKB/Swiss-Prot
  Q5SNW6 UniProtKB/Swiss-Prot
  Q5SNW9 UniProtKB/Swiss-Prot
  Q7Z6M6 UniProtKB/Swiss-Prot
  Q8IU73 UniProtKB/Swiss-Prot
  Q9UQR2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 MTHFR  methylenetetrahydrofolate reductase  MTHFR  methylenetetrahydrofolate reductase (NAD(P)H)  Symbol and/or name change 5135510 APPROVED
2011-07-27 MTHFR  methylenetetrahydrofolate reductase (NAD(P)H)  MTHFR  5,10-methylenetetrahydrofolate reductase (NADPH)  Symbol and/or name change 5135510 APPROVED