HBB (hemoglobin subunit beta) - Rat Genome Database

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Pathways
Gene: HBB (hemoglobin subunit beta) Homo sapiens
Analyze
Symbol: HBB
Name: hemoglobin subunit beta
RGD ID: 736606
HGNC Page HGNC:4827
Description: Enables hemoglobin binding activity and oxygen binding activity. Contributes to haptoglobin binding activity and peroxidase activity. Involved in several processes, including nitric oxide transport; oxygen transport; and response to hydrogen peroxide. Located in extracellular space. Part of haptoglobin-hemoglobin complex and hemoglobin complex. Implicated in several diseases, including acute chest syndrome; congenital hemolytic anemia (multiple); polycythemia (multiple); sickle cell disease (multiple); and thalassemia (multiple). Biomarker of Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta globin chain; beta-globin; CD113t-C; ECYT6; hemoglobin beta chain; hemoglobin beta chain complex; hemoglobin beta subunit; hemoglobin, beta
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Alliance Orthologs
More Info more info ...
Related Pseudogenes: HBBP1  
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   SCL8_H  
Candidate Gene For: INSUL33_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38115,225,464 - 5,227,071 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl115,225,464 - 5,229,395 (-)Ensemblhg38GRCh38
GRCh37115,246,694 - 5,248,301 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36115,203,272 - 5,204,877 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34115,203,271 - 5,204,877NCBI
Celera115,365,367 - 5,366,972 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef114,905,869 - 4,907,474 (-)NCBIHuRef
CHM1_1115,245,631 - 5,247,236 (-)NCBICHM1_1
T2T-CHM13v2.0115,284,832 - 5,286,439 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-noradrenaline  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,5-hexanedione  (ISO)
2-bromohexadecanoic acid  (EXP)
2-butoxyethanol  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
alachlor  (ISO)
aldehydo-D-glucose  (EXP,ISO)
Allylamine  (ISO)
amiodarone  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
benzbromarone  (ISO)
benzene  (EXP,ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
bromobenzene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
capecitabine  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
carboplatin  (ISO)
catechol  (EXP)
chloromethylisothiazolinone  (EXP)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corosolic acid  (EXP)
D-glucose  (EXP,ISO)
deoxynivalenol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibromoacetic acid  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP)
doxorubicin  (ISO)
entacapone  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
flucloxacillin  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
furans  (EXP)
geraniol  (ISO)
glucose  (EXP,ISO)
hemin  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
hydrogen sulfide  (ISO)
hydroquinone  (EXP)
ibrutinib  (EXP)
indole-3-methanol  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
kaempferol  (EXP)
ketamine  (ISO)
ketoconazole  (ISO)
L-ethionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
linalool  (ISO)
linezolid  (ISO)
mercaptopurine  (ISO)
Mesaconitine  (ISO)
metformin  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-N-nitrosourea  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalenes  (ISO)
nickel atom  (EXP)
nickel subsulfide  (ISO)
nitroglycerin  (ISO)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenol  (EXP)
PhIP  (EXP,ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-adenosyl-L-homocysteine  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
styrene oxide  (EXP)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
undecane  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zearalenone  (ISO)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bone structure  (IAGP)
Abnormal hemoglobin  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormality of iron homeostasis  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of the vasculature  (IAGP)
Adrenal insufficiency  (IAGP)
Anemia  (IAGP)
Anemia of inadequate production  (IAGP)
Anisocytosis  (IAGP)
Anisopoikilocytosis  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Asplenia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Bowing of the long bones  (IAGP)
Cardiomegaly  (IAGP)
Chest pain  (IAGP)
Cholelithiasis  (IAGP)
Chronic hemolytic anemia  (IAGP)
Chronic hepatitis  (IAGP)
Chronic infection  (IAGP)
Chronic kidney disease  (IAGP)
Cirrhosis  (IAGP)
Cyanosis  (IAGP)
Decreased liver function  (IAGP)
Decreased mean corpuscular hemoglobin concentration  (IAGP)
Decreased mean corpuscular volume  (IAGP)
Delayed puberty  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Drug-sensitive hemolytic anemia  (IAGP)
Dyspnea  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated hepatic iron concentration  (IAGP)
Elevated transferrin saturation  (IAGP)
Erythrocyte inclusion bodies  (IAGP)
Erythroid hyperplasia  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Finger dactylitis  (IAGP)
Frontal bossing  (IAGP)
Genu valgum  (IAGP)
Growth delay  (IAGP)
HbC hemoglobin  (IAGP)
HbS hemoglobin  (IAGP)
Heinz bodies  (IAGP)
Heinz body anemia  (IAGP)
Hematuria  (IAGP)
Hemolytic anemia  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High-output congestive heart failure  (IAGP)
Hypercoagulability  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperplasia of the maxilla  (IAGP)
Hypersplenism  (IAGP)
Hypertension  (IAGP)
Hyphema  (IAGP)
Hypochromia  (IAGP)
Hypochromic anemia  (IAGP)
Hypochromic microcytic anemia  (IAGP)
Hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of the musculature  (IAGP)
Hypothyroidism  (IAGP)
Hypoxemia  (IAGP)
Imbalanced hemoglobin synthesis  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating hemoglobin concentration  (IAGP)
Increased circulating iron concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased HbA2 hemoglobin  (IAGP)
Increased hematocrit  (IAGP)
Increased mean corpuscular volume  (IAGP)
Increased red blood cell count  (IAGP)
Increased red cell osmotic resistance  (IAGP)
Increased red cell sickling tendency  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased total leukocyte count  (IAGP)
Intrahepatic cholestasis  (IAGP)
Intrauterine growth retardation  (IAGP)
Iron deficiency anemia  (IAGP)
Irritability  (IAGP)
Ischemic stroke  (IAGP)
Jaundice  (IAGP)
Malar prominence  (IAGP)
Methemoglobinemia  (IAGP)
Microcytic anemia  (IAGP)
Miscarriage  (IAGP)
Nonspherocytic hemolytic anemia  (IAGP)
Osteomyelitis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pain  (IAGP)
Pallor  (IAGP)
Persistence of hemoglobin F  (IAGP)
Pigment gallstones  (IAGP)
Polycythemia  (IAGP)
Premature birth  (IAGP)
Priapism  (IAGP)
Proximal tubulopathy  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary infiltrates  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent fever  (IAGP)
Recurrent infections  (IAGP)
Reduced alpha/beta synthesis ratio  (IAGP)
Reduced beta/alpha synthesis ratio  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced hemoglobin A  (IAGP)
Renal insufficiency  (IAGP)
Reticulocytosis  (IAGP)
Retinal arterial occlusion  (IAGP)
Retinopathy  (IAGP)
Severe infection  (IAGP)
Sickled erythrocytes  (IAGP)
Skin ulcer  (IAGP)
Spinal cord compression  (IAGP)
Splenic infarction  (IAGP)
Splenomegaly  (IAGP)
Stroke  (IAGP)
Target cells  (IAGP)
Thrombocytosis  (IAGP)
Unconjugated hyperbilirubinemia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Venous thrombosis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. Agarwal A, etal., Blood. 2000 Oct 1;96(7):2358-63.
2. Acute chest syndrome is associated with single nucleotide polymorphism-defined beta globin cluster haplotype in children with sickle cell anaemia. Bean CJ, etal., Br J Haematol. 2013 Oct;163(2):268-76. doi: 10.1111/bjh.12507. Epub 2013 Aug 16.
3. Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. Blouquit Y, etal., Hemoglobin. 1989;13(5):465-74.
4. Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons. Brennan SO, etal., Br J Haematol. 1992 May;81(1):99-103.
5. A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII. Chang JC and Kan YW, Trans Assoc Am Physicians. 1982;95:71-8.
6. Hb Saint Etienne or Hb Istanbul [beta92(F8)His-->Gln] found in an Argentinean family. de Weinstein BI, etal., Hemoglobin. 2000 May;24(2):149-52.
7. Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction. Fischel-Ghodsian N, etal., Am J Hum Genet. 1990 Dec;47(6):1023-4.
8. Interaction of hemoglobin E and several forms of alpha-thalassemia in Cambodian families. Fucharoen S, etal., Haematologica. 2003 Oct;88(10):1092-8.
9. Hemoglobin expression in neurons and glia after intracerebral hemorrhage. He Y, etal., Acta Neurochir Suppl. 2011;111:133-7. doi: 10.1007/978-3-7091-0693-8_22.
10. A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. Jamsai D, etal., Genomics. 2006 Sep;88(3):309-15. Epub 2006 May 2.
11. Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. Lokich JJ, etal., J Clin Invest. 1973 Aug;52(8):2060-7.
12. Hemoglobin Beth Israel. A mutant causing clinically apparent cyanosis. Nagel RL, etal., N Engl J Med. 1976 Jul 15;295(3):125-30.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
15. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Orkin SH, etal., Nature. 1982 Apr 15;296(5858):627-31.
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. Pirastu M, etal., Proc Natl Acad Sci U S A. 1987 May;84(9):2882-5.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. A mitochondrial location for haemoglobins--dynamic distribution in ageing and Parkinson's disease. Shephard F, etal., Mitochondrion. 2014 Jan;14(1):64-72. doi: 10.1016/j.mito.2013.12.001. Epub 2013 Dec 10.
22. beta zero thalassemia in Sardinia is caused by a nonsense mutation. Trecartin RF, etal., J Clin Invest. 1981 Oct;68(4):1012-7.
23. A toxicogenomic approach for identifying biomarkers for myelosuppressive anemia in rats. Uehara T, etal., Toxicology. 2011 Apr 11;282(3):139-45. doi: 10.1016/j.tox.2011.01.027. Epub 2011 Feb 4.
24. Changes in hematological parameters in alpha-thalassemia individuals co-inherited with erythroid Kruppel-like factor mutations. Yu LH, etal., Clin Genet. 2015 Jul;88(1):56-61. doi: 10.1111/cge.12443. Epub 2014 Jul 26.
25. Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia. Zimmermann MB, etal., Am J Clin Nutr. 2008 Oct;88(4):1026-31.
Additional References at PubMed
PMID:67897   PMID:68958   PMID:88735   PMID:271989   PMID:429365   PMID:635569   PMID:668922   PMID:721609   PMID:728996   PMID:822353   PMID:826083   PMID:873928  
PMID:891976   PMID:893142   PMID:992050   PMID:1019344   PMID:1115799   PMID:1138922   PMID:1177322   PMID:1195378   PMID:1247583   PMID:1301199   PMID:1487420   PMID:1507231  
PMID:1511986   PMID:1512262   PMID:1517102   PMID:1540659   PMID:1552945   PMID:1567857   PMID:1602151   PMID:1634367   PMID:1787097   PMID:1814856   PMID:1917530   PMID:1917537  
PMID:1917539   PMID:2079435   PMID:2101840   PMID:2384314   PMID:2399911   PMID:2513289   PMID:2578619   PMID:2578620   PMID:2581851   PMID:2599880   PMID:2634671   PMID:2649166  
PMID:2798417   PMID:2921315   PMID:2933810   PMID:2937057   PMID:3267215   PMID:3382401   PMID:3384707   PMID:3384708   PMID:3384709   PMID:3384710   PMID:3455755   PMID:3557994  
PMID:3620470   PMID:3623975   PMID:3654265   PMID:3666141   PMID:3691763   PMID:3707969   PMID:3718478   PMID:3744871   PMID:3754244   PMID:3838976   PMID:3857622   PMID:3879973  
PMID:3879975   PMID:3937824   PMID:4053691   PMID:4123689   PMID:4129558   PMID:4531009   PMID:4639022   PMID:4850241   PMID:4852224   PMID:6086605   PMID:6095301   PMID:6155216  
PMID:6165992   PMID:6166590   PMID:6184621   PMID:6194893   PMID:6194897   PMID:6210198   PMID:6254664   PMID:6264391   PMID:6270663   PMID:6272205   PMID:6292831   PMID:6292840  
PMID:6297279   PMID:6303333   PMID:6324786   PMID:6327288   PMID:6330670   PMID:6434492   PMID:6526653   PMID:6587773   PMID:6618888   PMID:6629822   PMID:6629823   PMID:6629824  
PMID:6644819   PMID:6652684   PMID:6683087   PMID:6687721   PMID:6701091   PMID:6714226   PMID:6726807   PMID:6857757   PMID:6895866   PMID:6985475   PMID:6985477   PMID:6985481  
PMID:7151176   PMID:7161106   PMID:7162987   PMID:7173395   PMID:7238856   PMID:7338468   PMID:7338469   PMID:7358733   PMID:7373648   PMID:7378053   PMID:7518430   PMID:7555018  
PMID:7693620   PMID:7907422   PMID:7965120   PMID:8114096   PMID:8144352   PMID:8292032   PMID:8330972   PMID:8330974   PMID:8330979   PMID:8522332   PMID:8602627   PMID:8641705  
PMID:8642597   PMID:8718692   PMID:8718696   PMID:8745430   PMID:8811317   PMID:8980683   PMID:9006104   PMID:9441940   PMID:9521756   PMID:9761252   PMID:9830011   PMID:9843411  
PMID:9894000   PMID:10233364   PMID:10390349   PMID:10398311   PMID:10588683   PMID:10666717   PMID:10791557   PMID:10856700   PMID:10930828   PMID:10954746   PMID:11043018   PMID:11076863  
PMID:11111119   PMID:11132230   PMID:11132233   PMID:11159543   PMID:11163187   PMID:11186256   PMID:11300344   PMID:11300346   PMID:11300351   PMID:11480785   PMID:11486027   PMID:11499613  
PMID:11570721   PMID:11582643   PMID:11724557   PMID:11741197   PMID:11747442   PMID:11778661   PMID:11782463   PMID:11800015   PMID:11804203   PMID:11804364   PMID:11812133   PMID:11822023  
PMID:11823440   PMID:11827978   PMID:11833853   PMID:11843288   PMID:11843884   PMID:11857746   PMID:11860449   PMID:11869935   PMID:11877258   PMID:11890201   PMID:11909945   PMID:11920200  
PMID:11939508   PMID:11939509   PMID:11939510   PMID:11939511   PMID:11939512   PMID:11939513   PMID:11939514   PMID:11939515   PMID:11939518   PMID:11939519   PMID:11939520   PMID:11965279  
PMID:11971871   PMID:11997516   PMID:11999355   PMID:12034837   PMID:12054662   PMID:12082507   PMID:12122004   PMID:12144057   PMID:12144064   PMID:12217699   PMID:12217813   PMID:12242335  
PMID:12360531   PMID:12394345   PMID:12419253   PMID:12454462   PMID:12477932   PMID:12555809   PMID:12581187   PMID:12581188   PMID:12603091   PMID:12629213   PMID:12665691   PMID:12709368  
PMID:12709369   PMID:12736816   PMID:12799453   PMID:12846902   PMID:12865230   PMID:12908805   PMID:12920025   PMID:12941700   PMID:12955718   PMID:13872627   PMID:13897827   PMID:14529320  
PMID:14555305   PMID:14585970   PMID:14587041   PMID:14627823   PMID:14642006   PMID:14645507   PMID:14649314   PMID:14649315   PMID:14649317   PMID:14649318   PMID:14649320   PMID:14722738  
PMID:14738432   PMID:15060158   PMID:15073633   PMID:15084587   PMID:15108284   PMID:15147217   PMID:15153712   PMID:15198986   PMID:15256071   PMID:15307413   PMID:15315795   PMID:15327529  
PMID:15385559   PMID:15476181   PMID:15481884   PMID:15481886   PMID:15481897   PMID:15482674   PMID:15489334   PMID:15489336   PMID:15528150   PMID:15538648   PMID:15555579   PMID:15565158  
PMID:15565159   PMID:15591902   PMID:15599663   PMID:15607699   PMID:15609277   PMID:15615768   PMID:15658186   PMID:15692663   PMID:15713129   PMID:15727248   PMID:15727901   PMID:15741796  
PMID:15767753   PMID:15780970   PMID:15793780   PMID:15795541   PMID:15795925   PMID:15835899   PMID:15839736   PMID:15858131   PMID:15870261   PMID:15882059   PMID:15885239   PMID:15910003  
PMID:15921164   PMID:15948210   PMID:15956966   PMID:15973412   PMID:15979088   PMID:16027165   PMID:16085752   PMID:16103715   PMID:16132905   PMID:16156863   PMID:16156939   PMID:16169070  
PMID:16175509   PMID:16184579   PMID:16199858   PMID:16227618   PMID:16254903   PMID:16356170   PMID:16381901   PMID:16418531   PMID:16466947   PMID:16470532   PMID:16480967   PMID:16508016  
PMID:16537808   PMID:16554811   PMID:16637741   PMID:16722361   PMID:16765986   PMID:16798637   PMID:16848606   PMID:16855288   PMID:16858401   PMID:16859949   PMID:16877501   PMID:16885058  
PMID:16898315   PMID:16916647   PMID:16943425   PMID:16956833   PMID:16990440   PMID:17056066   PMID:17095853   PMID:17096035   PMID:17133428   PMID:17135308   PMID:17140342   PMID:17158930  
PMID:17160997   PMID:17196618   PMID:17301974   PMID:17339197   PMID:17394396   PMID:17445142   PMID:17486493   PMID:17486497   PMID:17490901   PMID:17508724   PMID:17516066   PMID:17519411  
PMID:17564253   PMID:17565724   PMID:17567994   PMID:17612748   PMID:17637845   PMID:17654071   PMID:17654072   PMID:17654503   PMID:17665502   PMID:17688704   PMID:17720709   PMID:17724704  
PMID:17881306   PMID:17894837   PMID:17916326   PMID:17918249   PMID:17920577   PMID:17925082   PMID:17961316   PMID:18022136   PMID:18026953   PMID:18056715   PMID:18071703   PMID:18080800  
PMID:18081706   PMID:18096416   PMID:18235968   PMID:18245381   PMID:18257074   PMID:18266765   PMID:18291005   PMID:18294253   PMID:18308336   PMID:18339318   PMID:18369441   PMID:18381244  
PMID:18391696   PMID:18392554   PMID:18392622   PMID:18414926   PMID:18419131   PMID:18428016   PMID:18443145   PMID:18447585   PMID:18458302   PMID:18461170   PMID:18465053   PMID:18473240  
PMID:18473247   PMID:18473248   PMID:18473944   PMID:18498386   PMID:18586828   PMID:18603555   PMID:18654885   PMID:18654889   PMID:18667698   PMID:18694524   PMID:18728021   PMID:18752444  
PMID:18759082   PMID:18772456   PMID:18928603   PMID:18932071   PMID:18951049   PMID:18974585   PMID:19055866   PMID:19056867   PMID:19065337   PMID:19066892   PMID:19087310   PMID:19122960  
PMID:19127788   PMID:19149873   PMID:19205970   PMID:19205975   PMID:19205976   PMID:19205978   PMID:19215610   PMID:19230568   PMID:19245215   PMID:19247486   PMID:19254853   PMID:19269866  
PMID:19288145   PMID:19290524   PMID:19317913   PMID:19320245   PMID:19333781   PMID:19346882   PMID:19359777   PMID:19372376   PMID:19373584   PMID:19373586   PMID:19397368   PMID:19465909  
PMID:19474452   PMID:19479992   PMID:19488752   PMID:19503809   PMID:19533614   PMID:19556751   PMID:19609526   PMID:19615732   PMID:19618018   PMID:19657833   PMID:19740759   PMID:19775947  
PMID:19843387   PMID:19903589   PMID:19913121   PMID:19954365   PMID:19958184   PMID:19958185   PMID:19958186   PMID:19958187   PMID:19958196   PMID:19958198   PMID:19958201   PMID:20036801  
PMID:20068219   PMID:20080971   PMID:20099768   PMID:20113286   PMID:20113295   PMID:20113296   PMID:20181291   PMID:20193381   PMID:20230396   PMID:20231425   PMID:20301551   PMID:20301599  
PMID:20301608   PMID:20305663   PMID:20336466   PMID:20353347   PMID:20353350   PMID:20353351   PMID:20353353   PMID:20353593   PMID:20395516   PMID:20406103   PMID:20524821   PMID:20552021  
PMID:20557680   PMID:20598923   PMID:20628086   PMID:20628988   PMID:20642332   PMID:20676097   PMID:20739079   PMID:20798489   PMID:20830473   PMID:20836851   PMID:20938172   PMID:20943106  
PMID:21034280   PMID:21068433   PMID:21075280   PMID:21075281   PMID:21075288   PMID:21077758   PMID:21077760   PMID:21086180   PMID:21129264   PMID:21145460   PMID:21173165   PMID:21194254  
PMID:21194265   PMID:21219849   PMID:21232998   PMID:21250885   PMID:21319273   PMID:21333566   PMID:21378272   PMID:21389146   PMID:21523319   PMID:21703224   PMID:21757944   PMID:21797700  
PMID:21797702   PMID:21797703   PMID:21800051   PMID:21801233   PMID:21805676   PMID:21816820   PMID:21828133   PMID:21873635   PMID:21881051   PMID:21931690   PMID:21947948   PMID:21978377  
PMID:22028795   PMID:22036762   PMID:22075726   PMID:22117603   PMID:22164220   PMID:22178075   PMID:22183073   PMID:22216176   PMID:22217259   PMID:22260316   PMID:22273838   PMID:22289203  
PMID:22291609   PMID:22323332   PMID:22324317   PMID:22516433   PMID:22524255   PMID:22563936   PMID:22565177   PMID:22625666   PMID:22654577   PMID:22672614   PMID:22675570   PMID:22705794  
PMID:22734501   PMID:22734587   PMID:22738610   PMID:22862814   PMID:22895189   PMID:22898041   PMID:22939629   PMID:22943051   PMID:22981786   PMID:23043469   PMID:23085440   PMID:23089702  
PMID:23101664   PMID:23215760   PMID:23235792   PMID:23263863   PMID:23272095   PMID:23281611   PMID:23349856   PMID:23361909   PMID:23376485   PMID:23382103   PMID:23398055   PMID:23398456  
PMID:23403292   PMID:23425204   PMID:23437895   PMID:23443559   PMID:23457306   PMID:23470150   PMID:23500448   PMID:23533145   PMID:23577918   PMID:23586372   PMID:23600595   PMID:23638175  
PMID:23671278   PMID:23683733   PMID:23717212   PMID:23826747   PMID:23889802   PMID:23915319   PMID:23925429   PMID:24074341   PMID:24074398   PMID:24080366   PMID:24080465   PMID:24086375  
PMID:24100324   PMID:24120603   PMID:24182909   PMID:24189400   PMID:24274186   PMID:24401016   PMID:24471793   PMID:24471820   PMID:24578002   PMID:24599423   PMID:24635037   PMID:24795058  
PMID:24802353   PMID:24857170   PMID:24878022   PMID:24981860   PMID:25123009   PMID:25139985   PMID:25155404   PMID:25155936   PMID:25170120   PMID:25183384   PMID:25188417   PMID:25222042  
PMID:25222044   PMID:25238043   PMID:25268796   PMID:25271992   PMID:25281560   PMID:25338941   PMID:25347256   PMID:25370867   PMID:25405919   PMID:25410714   PMID:25412720   PMID:25469539  
PMID:25476778   PMID:25502805   PMID:25523871   PMID:25572182   PMID:25572184   PMID:25572186   PMID:25572187   PMID:25617386   PMID:25681747   PMID:25712976   PMID:25849334   PMID:25856402  
PMID:25898735   PMID:25918715   PMID:25963833   PMID:25976460   PMID:25976463   PMID:26042536   PMID:26097845   PMID:26182728   PMID:26186194   PMID:26214904   PMID:26292035   PMID:26372288  
PMID:26375765   PMID:26439863   PMID:26445879   PMID:26524961   PMID:26554738   PMID:26754300   PMID:26840243   PMID:26866725   PMID:26890443   PMID:26928674   PMID:26949251   PMID:26995402  
PMID:26997009   PMID:27026582   PMID:27105433   PMID:27263053   PMID:27301940   PMID:27377386   PMID:27591049   PMID:27739611   PMID:27793844   PMID:27828729   PMID:28003571   PMID:28066926  
PMID:28181495   PMID:28199095   PMID:28224676   PMID:28366026   PMID:28374749   PMID:28385923   PMID:28399542   PMID:28465180   PMID:28475449   PMID:28514442   PMID:28533407   PMID:28581483  
PMID:28595636   PMID:28603845   PMID:28665412   PMID:28685749   PMID:28772282   PMID:28800727   PMID:28883619   PMID:28931607   PMID:29064674   PMID:29117568   PMID:29127676   PMID:29128334  
PMID:29157167   PMID:29240028   PMID:29509190   PMID:29710269   PMID:29964138   PMID:29969578   PMID:29997244   PMID:30183107   PMID:30309760   PMID:30463901   PMID:30554943   PMID:30575818  
PMID:30622282   PMID:30833564   PMID:30844732   PMID:31010829   PMID:31084366   PMID:31146650   PMID:31167908   PMID:31180492   PMID:31190580   PMID:31246535   PMID:31275994   PMID:31304856  
PMID:31324722   PMID:31409639   PMID:31509281   PMID:31515488   PMID:31601781   PMID:31636731   PMID:31793705   PMID:31869403   PMID:31899996   PMID:31903828   PMID:31914830   PMID:31939318  
PMID:32001505   PMID:32078010   PMID:32079421   PMID:32091272   PMID:32108581   PMID:32172616   PMID:32203420   PMID:32219817   PMID:32296183   PMID:32370567   PMID:32433728   PMID:32513696  
PMID:32527859   PMID:32638316   PMID:32664780   PMID:32674615   PMID:32755585   PMID:32989298   PMID:33059548   PMID:33066815   PMID:33198537   PMID:33440169   PMID:33461216   PMID:33476375  
PMID:33556202   PMID:33567341   PMID:33618749   PMID:33726930   PMID:33734896   PMID:33798832   PMID:33843396   PMID:33851260   PMID:33961781   PMID:34039624   PMID:34060430   PMID:34271589  
PMID:34311670   PMID:34389729   PMID:34431227   PMID:34585664   PMID:34697800   PMID:35023007   PMID:35052472   PMID:35124280   PMID:35243949   PMID:35305106   PMID:35337019   PMID:35338135  
PMID:35652658   PMID:35705926   PMID:35811813   PMID:35831895   PMID:35944360   PMID:36117408   PMID:36168627   PMID:36214153   PMID:36232890   PMID:36373674   PMID:36517590   PMID:36574265  
PMID:36811326   PMID:36964488   PMID:37059091   PMID:37059927   PMID:37092366   PMID:37105989   PMID:37249651   PMID:37309066   PMID:37310050   PMID:37314216   PMID:37353956   PMID:37398436  
PMID:37519097   PMID:37529858   PMID:37548174   PMID:37548329   PMID:37605561   PMID:37746908   PMID:37774812   PMID:37820061   PMID:37876062   PMID:38009642   PMID:38062488   PMID:38113892  
PMID:38425097   PMID:38679728   PMID:38943005   PMID:39056767   PMID:39701095  


Genomics

Comparative Map Data
HBB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38115,225,464 - 5,227,071 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl115,225,464 - 5,229,395 (-)Ensemblhg38GRCh38
GRCh37115,246,694 - 5,248,301 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36115,203,272 - 5,204,877 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34115,203,271 - 5,204,877NCBI
Celera115,365,367 - 5,366,972 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef114,905,869 - 4,907,474 (-)NCBIHuRef
CHM1_1115,245,631 - 5,247,236 (-)NCBICHM1_1
T2T-CHM13v2.0115,284,832 - 5,286,439 (-)NCBIT2T-CHM13v2.0
Hbb-b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
MGSCv377110,961,042 - 110,962,437 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv367103,686,347 - 103,687,744 (-)NCBIMGSCv36mm8
Celera796,819,753 - 96,820,010 (-)NCBICelera
Cytogenetic Map7E3NCBI
cM Map754.85NCBI
Hbb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81167,662,310 - 167,663,721 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1167,630,245 - 167,663,873 (-)EnsemblGRCr8
mRatBN7.21158,250,421 - 158,251,832 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1158,120,200 - 158,252,012 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1166,255,149 - 166,256,560 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01173,435,166 - 173,436,577 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01166,323,366 - 166,324,777 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01168,971,269 - 168,972,680 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1168,971,274 - 168,972,725 (-)Ensemblrn6Rnor6.0
Rnor_5.01175,134,672 - 175,136,083 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41161,618,782 - 161,620,193 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1156,261,276 - 156,262,687 (-)NCBICelera
RGSC_v3.11161,666,147 - 161,701,483 (-)NCBI
RH 3.4 Map11291.6RGD
Cytogenetic Map1q32NCBI
Hbb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541421,187,885 - 21,189,497 (-)Ensembl
ChiLan1.0NW_00495541421,188,012 - 21,189,363 (-)NCBIChiLan1.0ChiLan1.0
LOC609402
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12128,187,535 - 28,188,991 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2127,904,374 - 27,905,831 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02128,904,801 - 28,906,258 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2128,896,230 - 28,932,520 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12128,248,396 - 28,249,852 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02128,475,491 - 28,476,948 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02128,611,683 - 28,613,353 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0

Variants

.
Variants in HBB
1623 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000518.4(HBB):c.26A>C (p.Lys9Thr) single nucleotide variant HEMOGLOBIN RIO GRANDE [RCV000030668] Chr11:5226996 [GRCh38]
Chr11:5248226 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.316-2A>C single nucleotide variant Beta zero thalassemia [RCV000016702]|Beta-thalassemia major [RCV001290616]|beta Thalassemia [RCV000020335]|not provided [RCV000507767] Chr11:5225728 [GRCh38]
Chr11:5246958 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-2A>G single nucleotide variant Beta zero thalassemia [RCV000016701]|Dominant beta-thalassemia [RCV002504815]|Dominant beta-thalassemia [RCV003389313]|Hb SS disease [RCV001004562]|beta Thalassemia [RCV000020336]|not provided [RCV000508360] Chr11:5225728 [GRCh38]
Chr11:5246958 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.435G>T (p.Lys145Asn) single nucleotide variant not provided [RCV000144412] Chr11:5225607 [GRCh38]
Chr11:5246837 [GRCh37]
Chr11:11p15.4
not provided
HBB, 106-KB DEL insertion Delta-beta-thalassemia [RCV000169772]|Hereditary persistence of fetal hemoglobin [RCV001814971] Chr11:11p15.5 pathogenic|not provided
NM_000518.5(HBB):c.-106G>C single nucleotide variant Beta-thalassemia HBB/LCRB [RCV002290956]|Dominant beta-thalassemia [RCV005049385]|Hb SS disease [RCV001004364]|beta Thalassemia [RCV000029946]|not provided [RCV000759788]|not specified [RCV001175347] Chr11:5227127 [GRCh38]
Chr11:5248357 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.5227154C>T single nucleotide variant beta Thalassemia [RCV000029947]|not provided [RCV000861030] Chr11:5227154 [GRCh38]
Chr11:5248384 [GRCh37]
Chr11:11p15.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.4(HBB):c.-136C>T single nucleotide variant beta Thalassemia [RCV000029949]|not provided [RCV004998111] Chr11:5227157 [GRCh38]
Chr11:5248387 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.-137C>A single nucleotide variant Beta thalassemia intermedia [RCV001797592]|Beta-thalassemia HBB/LCRB [RCV005430466]|Dominant beta-thalassemia [RCV000763257]|Dominant beta-thalassemia [RCV005003404]|beta Thalassemia [RCV000445644]|not provided [RCV000506877] Chr11:5227158 [GRCh38]
Chr11:5248388 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|not provided
NM_000518.5(HBB):c.-137C>T single nucleotide variant Beta thalassemia intermedia [RCV003317048]|Dominant beta-thalassemia [RCV005049386]|Hb SS disease [RCV001004365]|beta Thalassemia [RCV000445650]|not provided [RCV001379381] Chr11:5227158 [GRCh38]
Chr11:5248388 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|not provided
NM_000518.5(HBB):c.-15C>A single nucleotide variant beta Thalassemia [RCV000029955] Chr11:5227036 [GRCh38]
Chr11:5248266 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-31C>T single nucleotide variant Dominant beta-thalassemia [RCV002272029]|Dominant beta-thalassemia [RCV005049387]|Fetal hemoglobin quantitative trait locus 1 [RCV001104362]|HBB-related disorder [RCV004732554]|Hb SS disease [RCV001104361]|Hemoglobin E [RCV001104363]|beta Thalassemia [RCV000029956]|not provided [RCV000755548]|not specified [RCV001420720] Chr11:5227052 [GRCh38]
Chr11:5248282 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.-50A>C single nucleotide variant Beta-plus-thalassemia [RCV001838527]|Beta-thalassemia HBB/LCRB [RCV005430467]|Dominant beta-thalassemia [RCV005049388]|beta Thalassemia [RCV000029957]|not provided [RCV000508619] Chr11:5227071 [GRCh38]
Chr11:5248301 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.-51T>C single nucleotide variant not provided [RCV002477022]|not specified [RCV000781449] Chr11:5227072 [GRCh38]
Chr11:5248302 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.-75G>C single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430468]|Dominant beta-thalassemia [RCV005049389]|HBB-related disorder [RCV004532418]|beta Thalassemia [RCV000984184]|not provided [RCV000508639]|not specified [RCV000029959] Chr11:5227096 [GRCh38]
Chr11:5248326 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.5227113G>C single nucleotide variant beta Thalassemia [RCV000029963]|not provided [RCV000759806] Chr11:5227113 [GRCh38]
Chr11:5248343 [GRCh37]
Chr11:11p15.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.171C>T (p.Gly57=) single nucleotide variant not provided [RCV000756234]|not specified [RCV001000078] Chr11:5226721 [GRCh38]
Chr11:5247951 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) indel beta Thalassemia [RCV000029966] Chr11:5227002..5227003 [GRCh38]
Chr11:5248232..5248233 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.201del (p.Val68fs) deletion Dominant beta-thalassemia [RCV000029967]|beta Thalassemia [RCV001078264] Chr11:5226691 [GRCh38]
Chr11:5247921 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.203_204del (p.Val68fs) deletion Beta-thalassemia HBB/LCRB [RCV005430469]|Dominant beta-thalassemia [RCV002496454]|beta Thalassemia [RCV000590298]|not provided [RCV000508401] Chr11:5226688..5226689 [GRCh38]
Chr11:5247918..5247919 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.246C>G (p.Leu82=) single nucleotide variant beta Thalassemia [RCV000029970]|not provided [RCV000944393] Chr11:5226646 [GRCh38]
Chr11:5247876 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.251del (p.Gly84fs) deletion Beta-thalassemia HBB/LCRB [RCV002288523]|beta Thalassemia [RCV000169623]|not provided [RCV000507807] Chr11:5226641 [GRCh38]
Chr11:5247871 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
HBB:c.262A>C (p.Thr88Pro) single nucleotide variant beta Thalassemia [RCV000029973] Chr11:5226630 [GRCh38]
Chr11:5247860 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.287dup (p.Leu97fs) duplication beta Thalassemia [RCV000029975]|not provided [RCV000507093] Chr11:5226604..5226605 [GRCh38]
Chr11:5247834..5247835 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) single nucleotide variant beta Thalassemia [RCV001272124]|not provided [RCV000589853]|not specified [RCV003387731] Chr11:5226583 [GRCh38]
Chr11:5247813 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-146T>G single nucleotide variant Beta-plus-thalassemia [RCV000016714]|beta Thalassemia [RCV000029979]|not provided [RCV000985748] Chr11:5225872 [GRCh38]
Chr11:5247102 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.316-14T>G single nucleotide variant Dominant beta-thalassemia [RCV005049391]|beta Thalassemia [RCV000029980]|not provided [RCV000759066] Chr11:5225740 [GRCh38]
Chr11:5246970 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.316-150C>G single nucleotide variant beta Thalassemia [RCV000029981] Chr11:5225876 [GRCh38]
Chr11:5247106 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-184T>C single nucleotide variant not provided [RCV000759067]|not specified [RCV005237427] Chr11:5225910 [GRCh38]
Chr11:5247140 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-185C>T single nucleotide variant beta Thalassemia [RCV000029983]|not provided [RCV000860761]|not specified [RCV000243814] Chr11:5225911 [GRCh38]
Chr11:5247141 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.316-30A>C single nucleotide variant Beta-thalassemia HBB/LCRB [RCV003333728]|Dominant beta-thalassemia [RCV005049392]|not provided [RCV000931066]|not specified [RCV000029985] Chr11:5225756 [GRCh38]
Chr11:5246986 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-37G>T single nucleotide variant not provided [RCV000978010]|not specified [RCV000029986] Chr11:5225763 [GRCh38]
Chr11:5246993 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.316-70C>G single nucleotide variant beta Thalassemia [RCV000029988]|not provided [RCV000874736]|not specified [RCV001001830] Chr11:5225796 [GRCh38]
Chr11:5247026 [GRCh37]
Chr11:11p15.4
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-96G>C single nucleotide variant not provided [RCV000874728]|not specified [RCV000507852] Chr11:5225822 [GRCh38]
Chr11:5247052 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.324C>T (p.Gly108=) single nucleotide variant Dominant beta-thalassemia [RCV005049393]|Fetal hemoglobin quantitative trait locus 1 [RCV001103966]|Hb SS disease [RCV001103969]|Hemoglobin E [RCV001103968]|beta Thalassemia [RCV001103967]|not provided [RCV000759069]|not specified [RCV000507146] Chr11:5225718 [GRCh38]
Chr11:5246948 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.353A>G (p.His118Arg) single nucleotide variant not provided [RCV000586298]|not specified [RCV002222359] Chr11:5225689 [GRCh38]
Chr11:5246919 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.402G>C (p.Val134=) single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001107580]|HBB-related disorder [RCV004532419]|Hb SS disease [RCV001107582]|Hemoglobin E [RCV001107581]|Inborn genetic diseases [RCV002354172]|beta Thalassemia [RCV000029995]|not provided [RCV000860902] Chr11:5225640 [GRCh38]
Chr11:5246870 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.432C>T (p.His144=) single nucleotide variant Inborn genetic diseases [RCV002326693]|beta Thalassemia [RCV001276401]|not provided [RCV000861471]|not specified [RCV000586720] Chr11:5225610 [GRCh38]
Chr11:5246840 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000518.5(HBB):c.*91G>A single nucleotide variant not provided [RCV003476903]|not specified [RCV000029998] Chr11:5225507 [GRCh38]
Chr11:5246737 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*96T>C single nucleotide variant HBB-related disorder [RCV004541025]|beta Thalassemia [RCV000029999]|not provided [RCV000755281] Chr11:5225502 [GRCh38]
Chr11:5246732 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.*110T>C single nucleotide variant Beta-plus-thalassemia [RCV000016730]|Beta-thalassemia HBB/LCRB [RCV004566754]|Dominant beta-thalassemia [RCV005049394]|Hb SS disease [RCV001004557]|beta Thalassemia [RCV000445649]|not provided [RCV000506540] Chr11:5225488 [GRCh38]
Chr11:5246718 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.92+2T>C single nucleotide variant Beta zero thalassemia [RCV003991531]|Dominant beta-thalassemia [RCV002496456]|beta Thalassemia [RCV000030003]|not provided [RCV000506748] Chr11:5226928 [GRCh38]
Chr11:5248158 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430110]|Dominant beta-thalassemia [RCV005049395]|beta Thalassemia [RCV000030006]|not provided [RCV000506003] Chr11:5226930 [GRCh38]
Chr11:5248160 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.93-23T>C single nucleotide variant Beta-thalassemia HBB/LCRB [RCV003323278]|HBB-related disorder [RCV004532420]|beta Thalassemia [RCV000030010]|not provided [RCV000860961] Chr11:5226822 [GRCh38]
Chr11:5248052 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000518.5(HBB):c.93-3T>G single nucleotide variant Beta thalassemia intermedia [RCV002222330]|Beta-plus-thalassemia [RCV000016710]|beta Thalassemia [RCV000030011]|not provided [RCV002477023] Chr11:5226802 [GRCh38]
Chr11:5248032 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) single nucleotide variant Dominant beta-thalassemia [RCV005049340]|HEMOGLOBIN ATHENS-GEORGIA [RCV000016252]|not provided [RCV000756230]|not specified [RCV002265556] Chr11:5226770 [GRCh38]
Chr11:5248000 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.71_73del (p.Val24del) deletion Hemoglobinopathy [RCV000016337] Chr11:5226949..5226951 [GRCh38]
Chr11:5248179..5248181 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.115A>C (p.Thr39Pro) single nucleotide variant HEMOGLOBIN HAZEBROUCK [RCV000016374] Chr11:5226777 [GRCh38]
Chr11:5248007 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.341T>A (p.Val114Glu) single nucleotide variant Dominant beta-thalassemia [RCV005049352]|not provided [RCV001284155]|not specified [RCV000016516] Chr11:5225701 [GRCh38]
Chr11:5246931 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.226_228del (p.Leu76del) deletion HEMOGLOBIN VICKSBURG [RCV000016636] Chr11:5226664..5226666 [GRCh38]
Chr11:5247894..5247896 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) single nucleotide variant HEMOGLOBIN SOUTH MILWAUKEE [RCV000016738]|not specified [RCV000506082] Chr11:5225726 [GRCh38]
Chr11:5246956 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) single nucleotide variant Beta thalassemia intermedia [RCV000016775]|Dominant beta-thalassemia [RCV001731305]|Dominant beta-thalassemia [RCV005049375]|HEMOGLOBIN BRESCIA [RCV000016776]|HEMOGLOBIN DURHAM-N.C. [RCV000016777]|beta Thalassemia [RCV001826469]|not provided [RCV000759070] Chr11:5225698 [GRCh38]
Chr11:5246928 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.5(HBB):c.223G>C (p.Gly75Arg) single nucleotide variant HEMOGLOBIN AALBORG [RCV000016242] Chr11:5226669 [GRCh38]
Chr11:5247899 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.431A>G (p.His144Arg) single nucleotide variant HEMOGLOBIN ABRUZZO [RCV000016243]|not provided [RCV001284490] Chr11:5225611 [GRCh38]
Chr11:5246841 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) single nucleotide variant HEMOGLOBIN AGENOGI [RCV000016244]|beta Thalassemia [RCV001835627]|not provided [RCV000756232]|not specified [RCV002222351] Chr11:5226621 [GRCh38]
Chr11:5247851 [GRCh37]
Chr11:11p15.4
uncertain significance|other
HBB, GLN39LYS variation HEMOGLOBIN ALABAMA [RCV000016245] Chr11:11p15.5 other
NM_000518.5(HBB):c.58A>G (p.Asn20Asp) single nucleotide variant HEMOGLOBIN ALAMO [RCV000016246] Chr11:5226964 [GRCh38]
Chr11:5248194 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641405]|HEMOGLOBIN ALBERTA [RCV000016247] Chr11:5226587 [GRCh38]
Chr11:5247817 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.406G>C (p.Ala136Pro) single nucleotide variant HEMOGLOBIN ALTDORF [RCV000016248] Chr11:5225636 [GRCh38]
Chr11:5246866 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641406]|HEMOGLOBIN ANDREW-MINNEAPOLIS [RCV000016249]|not provided [RCV001811146] Chr11:5225607 [GRCh38]
Chr11:5246837 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.32C>A (p.Ala11Asp) single nucleotide variant HEMOGLOBIN ANKARA [RCV000016250] Chr11:5226990 [GRCh38]
Chr11:5248220 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.227T>C (p.Leu76Pro) single nucleotide variant HEMOGLOBIN ATLANTA [RCV000016254]|HEMOGLOBIN ATLANTA-COVENTRY [RCV000016255] Chr11:5226665 [GRCh38]
Chr11:5247895 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.123G>C (p.Arg41Ser) single nucleotide variant HEMOGLOBIN AUSTIN [RCV000016256] Chr11:5226769 [GRCh38]
Chr11:5247999 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.143A>C (p.Asp48Ala) single nucleotide variant HEMOGLOBIN AVICENNA [RCV000016257] Chr11:5226749 [GRCh38]
Chr11:5247979 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.283G>C (p.Asp95His) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641409]|HEMOGLOBIN BARCELONA [RCV000016258] Chr11:5226609 [GRCh38]
Chr11:5247839 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.245T>G (p.Leu82Arg) single nucleotide variant HEMOGLOBIN BAYLOR [RCV000016259] Chr11:5226647 [GRCh38]
Chr11:5247877 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.380T>C (p.Val127Ala) single nucleotide variant Dominant beta-thalassemia [RCV005049341]|HEMOGLOBIN BEIRUT [RCV000016260]|not provided [RCV001284157]|not specified [RCV001778654] Chr11:5225662 [GRCh38]
Chr11:5246892 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.46T>A (p.Trp16Arg) single nucleotide variant HEMOGLOBIN BELFAST [RCV000016261] Chr11:5226976 [GRCh38]
Chr11:5248206 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.266T>G (p.Leu89Arg) single nucleotide variant HBB-related disorder [RCV004724745]|HEMOGLOBIN BORAS [RCV000016262] Chr11:5226626 [GRCh38]
Chr11:5247856 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.359G>T (p.Gly120Val) single nucleotide variant HEMOGLOBIN BOUGARDIREY-MALI [RCV000016263] Chr11:5225683 [GRCh38]
Chr11:5246913 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.365A>T (p.Glu122Val) single nucleotide variant Dominant beta-thalassemia [RCV005049342]|HEMOGLOBIN BEOGRAD [RCV000016264]|HEMOGLOBIN D (CAMPERDOWN) [RCV000016265]|not specified [RCV004586012] Chr11:5225677 [GRCh38]
Chr11:5246907 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance|other
NM_000518.4(HBB):c.308A>G (p.Asn103Ser) single nucleotide variant HEMOGLOBIN BETH ISRAEL [RCV000016266] Chr11:5226584 [GRCh38]
Chr11:5247814 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.436T>C (p.Tyr146His) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641411]|HEMOGLOBIN BETHESDA [RCV000016267]|not provided [RCV001811147] Chr11:5225606 [GRCh38]
Chr11:5246836 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.191A>C (p.His64Pro) single nucleotide variant HEMOGLOBIN BICETRE [RCV000016268] Chr11:5226701 [GRCh38]
Chr11:5247931 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.382C>A (p.Gln128Lys) single nucleotide variant HEMOGLOBIN BREST [RCV000016270] Chr11:5225660 [GRCh38]
Chr11:5246890 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641413]|HEMOGLOBIN BRIGHAM [RCV000016271] Chr11:5226590 [GRCh38]
Chr11:5247820 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.206T>A (p.Leu69His) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641416]|HEMOGLOBIN BRISBANE [RCV000016272]|HEMOGLOBIN GREAT LAKES [RCV000016273] Chr11:5226686 [GRCh38]
Chr11:5247916 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641420]|HEMOGLOBIN BRITISH COLUMBIA [RCV000016274] Chr11:5226588 [GRCh38]
Chr11:5247818 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.415G>C (p.Ala139Pro) single nucleotide variant HEMOGLOBIN BROCKTON [RCV000016275] Chr11:5225627 [GRCh38]
Chr11:5246857 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.202G>A (p.Val68Met) single nucleotide variant HEMOGLOBIN ALESHA [RCV000016801]|HEMOGLOBIN BRISTOL [RCV000016276]|Hemoglobinopathy [RCV005055517]|not provided [RCV004998096] Chr11:5226690 [GRCh38]
Chr11:5247920 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.127_129del (p.Phe43del) deletion Heinz body anemia [RCV000016278]|Hemoglobinopathy [RCV000016277]|not provided [RCV001800300] Chr11:5226763..5226765 [GRCh38]
Chr11:5247993..5247995 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|other
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) single nucleotide variant Hemoglobinopathy [RCV000016279]|not provided [RCV003114195] Chr11:5226635 [GRCh38]
Chr11:5247865 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) single nucleotide variant HEMOGLOBIN BUNBURY [RCV000016281]|not provided [RCV000985741]|not specified [RCV001804736] Chr11:5226609 [GRCh38]
Chr11:5247839 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.224G>T (p.Gly75Val) single nucleotide variant HEMOGLOBIN BUSHWICK [RCV000016283] Chr11:5226668 [GRCh38]
Chr11:5247898 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV002288494]|Dominant beta-thalassemia [RCV001535943]|Dominant beta-thalassemia [RCV005049343]|Dominant beta-thalassemia [RCV005357128]|HBB-related disorder [RCV003335041]|HEMOGLOBIN C [RCV000016284]|Hb SS disease [RCV000202507]|Heinz body anemia [RCV001813746]|Hereditary persistence of fetal hemoglobin [RCV003137529]|Inborn genetic diseases [RCV002415418]|Inherited hemoglobinopathy [RCV004017254]|Malaria, resistance to [RCV000016285]|Sickle cell-hemoglobin C disease [RCV003150807]|beta Thalassemia [RCV000576347]|not provided [RCV000224028] Chr11:5227003 [GRCh38]
Chr11:5248233 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|benign|protective|other
HBB, GLN131GLU variation HEMOGLOBIN CAMDEN [RCV000016290]|HEMOGLOBIN MOTOWN [RCV000016291]|HEMOGLOBIN TOKUCHI [RCV000016292] Chr11:11p15.5 other
NM_000518.5(HBB):c.315G>Y (p.Arg105Ser) single nucleotide variant HEMOGLOBIN CAMPERDOWN [RCV000016293] Chr11:5226577 [GRCh38]
Chr11:5247807 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) single nucleotide variant HEMOGLOBIN CARIBBEAN [RCV000016294]|not provided [RCV001283991] Chr11:5226617 [GRCh38]
Chr11:5247847 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.98T>G (p.Leu33Arg) single nucleotide variant HEMOGLOBIN CASTILLA [RCV000016295] Chr11:5226794 [GRCh38]
Chr11:5248024 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.299A>T (p.Asp100Val) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641428]|HEMOGLOBIN CHEMILLY [RCV000016297] Chr11:5226593 [GRCh38]
Chr11:5247823 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) single nucleotide variant HEMOGLOBIN CHEVERLY [RCV000016298]|not provided [RCV000757360]|not specified [RCV003155027] Chr11:5226755 [GRCh38]
Chr11:5247985 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance|other
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) single nucleotide variant HEMOGLOBIN CHICO [RCV000016299]|not provided [RCV001811148] Chr11:5226692 [GRCh38]
Chr11:5247922 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance|other
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) single nucleotide variant Dominant beta-thalassemia [RCV000709890]|Dominant beta-thalassemia [RCV001535933]|Dominant beta-thalassemia [RCV005049344]|Dominant beta-thalassemia [RCV005364880]|Fetal hemoglobin quantitative trait locus 1 [RCV001107023]|HEMOGLOBIN CITY OF HOPE [RCV000016301]|Hb SS disease [RCV001004567]|Hemoglobin E [RCV001107022]|Hemoglobinopathy [RCV005417430]|beta Thalassemia [RCV000396079]|not provided [RCV000587680]|not specified [RCV000855646] Chr11:5226684 [GRCh38]
Chr11:5247914 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other|not provided
NM_000518.4(HBB):c.440A>G (p.His147Arg) single nucleotide variant HEMOGLOBIN COCHIN-PORT ROYAL [RCV000016302] Chr11:5225602 [GRCh38]
Chr11:5246832 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.64G>A (p.Asp22Asn) single nucleotide variant HEMOGLOBIN COCODY [RCV000016303]|not provided [RCV004998082] Chr11:5226958 [GRCh38]
Chr11:5248188 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.182T>C (p.Val61Ala) single nucleotide variant HEMOGLOBIN COLLINGWOOD [RCV000016304] Chr11:5226710 [GRCh38]
Chr11:5247940 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.424_426del (p.Leu142del) deletion HEMOGLOBIN COVENTRY [RCV000016306] Chr11:5225616..5225618 [GRCh38]
Chr11:5246846..5246848 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.440A>T (p.His147Leu) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641431]|HEMOGLOBIN COWTOWN [RCV000016307] Chr11:5225602 [GRCh38]
Chr11:5246832 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.436_437insCT (p.Tyr146fs) insertion HEMOGLOBIN CRANSTON [RCV000016308] Chr11:5225605..5225606 [GRCh38]
Chr11:5246835..5246836 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) single nucleotide variant HEMOGLOBIN CRETE [RCV000016309]|beta Thalassemia [RCV001823097]|not provided [RCV004998083] Chr11:5225654 [GRCh38]
Chr11:5246884 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance|other
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641434]|HEMOGLOBIN CRETEIL [RCV000016310]|beta Thalassemia [RCV001374642] Chr11:5226623 [GRCh38]
Chr11:5247853 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.5(HBB):c.49G>C (p.Gly17Arg) single nucleotide variant HEMOGLOBIN D (BUSHMAN) [RCV000016311] Chr11:5226973 [GRCh38]
Chr11:5248203 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.68A>T (p.Glu23Val) single nucleotide variant Dominant beta-thalassemia [RCV002490376]|HEMOGLOBIN D (GRANADA) [RCV000016312]|not provided [RCV000759803] Chr11:5226954 [GRCh38]
Chr11:5248184 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) single nucleotide variant HEMOGLOBIN D (IBADAN) [RCV000016313]|beta Thalassemia [RCV001826463]|not specified [RCV000506646] Chr11:5226629 [GRCh38]
Chr11:5247859 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) single nucleotide variant HEMOGLOBIN D (IRAN) [RCV000016314]|not provided [RCV000589411]|not specified [RCV001280542] Chr11:5226955 [GRCh38]
Chr11:5248185 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005229799]|Dominant beta-thalassemia [RCV005049345]|HBB-related disorder [RCV000778329]|Hb D-Los Angeles [RCV000016317]|Hb SS disease [RCV000202465]|Heinz body anemia [RCV002247348]|Hemoglobin D disease [RCV001175348]|beta Thalassemia [RCV000029994]|not provided [RCV000723826] Chr11:5225678 [GRCh38]
Chr11:5246908 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) single nucleotide variant HEMOGLOBIN D (OULED RABAH) [RCV000016321]|not provided [RCV001811149]|not specified [RCV004526596] Chr11:5226962 [GRCh38]
Chr11:5248192 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance|other
HBB, 2-BP INS, 25TA insertion Beta-plus-thalassemia [RCV000016322] Chr11:11p15.5 pathogenic
HBB, 1-BP DEL, C deletion Beta-plus-thalassemia [RCV000016323] Chr11:11p15.5 pathogenic
NM_000518.4(HBB):c.8A>G (p.His3Arg) single nucleotide variant HEMOGLOBIN DEER LODGE [RCV000016324]|not provided [RCV001811150] Chr11:5227014 [GRCh38]
Chr11:5248244 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|other
NM_000518.5(HBB):c.288G>C (p.Lys96Asn) single nucleotide variant Dominant beta-thalassemia [RCV005049346]|HEMOGLOBIN DETROIT [RCV000016325]|not provided [RCV003476893] Chr11:5226604 [GRCh38]
Chr11:5247834 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.296T>C (p.Val99Ala) single nucleotide variant HEMOGLOBIN DJELFA [RCV000016326] Chr11:5226596 [GRCh38]
Chr11:5247826 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.5T>A (p.Val2Glu) single nucleotide variant HEMOGLOBIN DOHA [RCV000016327] Chr11:5227017 [GRCh38]
Chr11:5248247 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) single nucleotide variant Anemia [RCV000853358]|Beta-plus-thalassemia [RCV000016330]|Beta-thalassemia HBB/LCRB [RCV002288495]|Dominant beta-thalassemia [RCV001536065]|Dominant beta-thalassemia [RCV004795418]|Dominant beta-thalassemia [RCV005222686]|Dominant beta-thalassemia [RCV005357129]|HBB-related disorder [RCV004532365]|Hb SS disease [RCV000202534]|Hemoglobin E [RCV000016329]|Hemoglobin E disease [RCV000778330]|Hemoglobin E/beta thalassemia disease [RCV000016331]|Hemoglobin E/beta- thalassemia [RCV005252683]|Hereditary persistence of fetal hemoglobin [RCV005229800]|Inborn genetic diseases [RCV002415419]|Malaria, resistance to [RCV000016332]|Malaria, susceptibility to [RCV003989105]|beta Thalassemia [RCV000496072]|not provided [RCV000521111]|not specified [RCV000506024] Chr11:5226943 [GRCh38]
Chr11:5248173 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting interpretations of pathogenicity|protective|other|not provided
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) single nucleotide variant HEMOGLOBIN E (SASKATOON) [RCV000016333]|not provided [RCV000757362] Chr11:5226955 [GRCh38]
Chr11:5248185 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.152_153delinsAR (p.Thr51Lys) indel HEMOGLOBIN EDMONTON [RCV000016334] Chr11:5226739..5226740 [GRCh38]
Chr11:5247969..5247970 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.400G>C (p.Val134Leu) single nucleotide variant HEMOGLOBIN EXTREMADURA [RCV000016335] Chr11:5225642 [GRCh38]
Chr11:5246872 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.232C>T (p.His78Tyr) single nucleotide variant HEMOGLOBIN FUKUYAMA [RCV000016340]|beta Thalassemia [RCV001831569]|not provided [RCV001811151]|not specified [RCV002281709] Chr11:5226660 [GRCh38]
Chr11:5247890 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) single nucleotide variant HEMOGLOBIN G (ACCRA) [RCV000016341]|HEMOGLOBIN YAIZU [RCV000030906]|not specified [RCV000507382] Chr11:5226654 [GRCh38]
Chr11:5247884 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) single nucleotide variant HEMOGLOBIN G (COPENHAGEN) [RCV000016342]|not provided [RCV001284628]|not specified [RCV004526597] Chr11:5226750 [GRCh38]
Chr11:5247980 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) single nucleotide variant HEMOGLOBIN G (COUSHATTA) [RCV000016343]|HEMOGLOBIN G (HSIN-CHU) [RCV000016345]|HEMOGLOBIN G (SASKATOON) [RCV000016344]|HEMOGLOBIN G (TAEGU) [RCV000016346]|beta Thalassemia [RCV000030001]|not provided [RCV000224041]|not specified [RCV003226160] Chr11:5226954 [GRCh38]
Chr11:5248184 [GRCh37]
Chr11:11p15.4
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) single nucleotide variant HEMOGLOBIN G (FERRARA) [RCV000016347]|not provided [RCV001811152] Chr11:5226718 [GRCh38]
Chr11:5247948 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) single nucleotide variant HEMOGLOBIN G (MAKASSAR) [RCV000016352]|not specified [RCV003234907] Chr11:5227002 [GRCh38]
Chr11:5248232 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) single nucleotide variant HEMOGLOBIN G (SAN JOSE) [RCV000016353]|not provided [RCV000756237]|not specified [RCV000781437] Chr11:5226999 [GRCh38]
Chr11:5248229 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.243C>A (p.Asn81Lys) single nucleotide variant HEMOGLOBIN G (SZUHU) [RCV000016354]|HEMOGLOBIN GIFU [RCV000016355] Chr11:5226649 [GRCh38]
Chr11:5247879 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) single nucleotide variant HEMOGLOBIN G (TAIPEI) [RCV000016356]|not provided [RCV000756231] Chr11:5226954 [GRCh38]
Chr11:5248184 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.76G>C (p.Gly26Arg) single nucleotide variant HEMOGLOBIN G (TAIWAN-AMI) [RCV000016357] Chr11:5226946 [GRCh38]
Chr11:5248176 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.139G>A (p.Gly47Arg) single nucleotide variant HEMOGLOBIN GAINESVILLE-GA [RCV000016358] Chr11:5226753 [GRCh38]
Chr11:5247983 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.143A>G (p.Asp48Gly) single nucleotide variant HEMOGLOBIN GAVELLO [RCV000016359] Chr11:5226749 [GRCh38]
Chr11:5247979 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.418A>G (p.Asn140Asp) single nucleotide variant HEMOGLOBIN GEELONG [RCV000016360]|HEMOGLOBIN JINAN [RCV000016361] Chr11:5225624 [GRCh38]
Chr11:5246854 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.86T>C (p.Leu29Pro) single nucleotide variant HEMOGLOBIN GENOVA [RCV000016362]|HEMOGLOBIN HYOGO [RCV000016363]|Hemoglobinopathy [RCV001731302] Chr11:5226936 [GRCh38]
Chr11:5248166 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.83C>T (p.Ala28Val) single nucleotide variant HEMOGLOBIN GRANGE-BLANCHE [RCV000016364]|not provided [RCV003441719] Chr11:5226939 [GRCh38]
Chr11:5248169 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.280_294del (p.Cys94_His98del) deletion HEMOGLOBIN GUN HILL [RCV000016365] Chr11:5226598..5226612 [GRCh38]
Chr11:5247828..5247842 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.382C>G (p.Gln128Glu) single nucleotide variant HEMOGLOBIN COMPLUTENSE [RCV000016367]|HEMOGLOBIN HACETTEPE [RCV000016366] Chr11:5225660 [GRCh38]
Chr11:5246890 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.169G>C (p.Gly57Arg) single nucleotide variant HEMOGLOBIN HAMADAN [RCV000016369]|not provided [RCV005229801] Chr11:5226723 [GRCh38]
Chr11:5247953 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.4(HBB):c.34G>A (p.Val12Ile) single nucleotide variant Dominant beta-thalassemia [RCV005003359]|Fetal hemoglobin quantitative trait locus 1 [RCV001107684]|HEMOGLOBIN HAMILTON [RCV000016370]|Hb SS disease [RCV001107685]|Hemoglobin E [RCV001107686]|beta Thalassemia [RCV001104053]|not provided [RCV000756241]|not specified [RCV001778655] Chr11:5226988 [GRCh38]
Chr11:5248218 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) single nucleotide variant HEMOGLOBIN CHIBA [RCV000016372]|HEMOGLOBIN HAMMERSMITH [RCV000016371]|Heinz body anemia [RCV000016373]|beta Thalassemia [RCV001831570]|not provided [RCV000757359] Chr11:5226764 [GRCh38]
Chr11:5247994 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.248A>T (p.Lys83Met) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641463]|HEMOGLOBIN HELSINKI [RCV000016376]|not provided [RCV001811153] Chr11:5226644 [GRCh38]
Chr11:5247874 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.80A>T (p.Glu27Val) single nucleotide variant HEMOGLOBIN HENRI MONDOR [RCV000016377] Chr11:5226942 [GRCh38]
Chr11:5248172 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.361A>G (p.Lys121Glu) single nucleotide variant HEMOGLOBIN HIJIYAMA [RCV000016378]|not provided [RCV004998084] Chr11:5225681 [GRCh38]
Chr11:5246911 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) single nucleotide variant HEMOGLOBIN HIKARI [RCV000016379]|not provided [RCV003103714]|not specified [RCV003234908] Chr11:5226706 [GRCh38]
Chr11:5247936 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance|other
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) single nucleotide variant HEMOGLOBIN HIMEJI [RCV000016380]|beta Thalassemia [RCV001277081]|not specified [RCV000757357] Chr11:5225620 [GRCh38]
Chr11:5246850 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) single nucleotide variant HEMOGLOBIN HINSDALE [RCV000016381]|not provided [RCV003736539] Chr11:5225622 [GRCh38]
Chr11:5246852 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.5(HBB):c.113G>C (p.Trp38Ser) single nucleotide variant HEMOGLOBIN HIROSE [RCV000016382] Chr11:5226779 [GRCh38]
Chr11:5248009 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.439C>G (p.His147Asp) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641470]|HEMOGLOBIN HIROSHIMA [RCV000016383] Chr11:5225603 [GRCh38]
Chr11:5246833 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.380T>A (p.Val127Glu) single nucleotide variant Dominant beta-thalassemia [RCV005049347]|HEMOGLOBIN HOFU [RCV000016384]|beta Thalassemia [RCV001507092]|not provided [RCV000759797] Chr11:5225662 [GRCh38]
Chr11:5246892 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance|other
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV002290955]|Hb SS disease [RCV001004558]|Inborn genetic diseases [RCV002321485]|beta Thalassemia [RCV000029996]|not provided [RCV001284489]|not specified [RCV000016385] Chr11:5225632 [GRCh38]
Chr11:5246862 [GRCh37]
Chr11:11p15.4
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|other
NM_000518.4(HBB):c.130G>C (p.Glu44Gln) single nucleotide variant not specified [RCV000016387] Chr11:5226762 [GRCh38]
Chr11:5247992 [GRCh37]
Chr11:11p15.4
benign|other
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641476]|HEMOGLOBIN HOTEL-DIEU [RCV000016388] Chr11:5226593 [GRCh38]
Chr11:5247823 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.178A>G (p.Lys60Glu) single nucleotide variant HEMOGLOBIN I (HIGH WYCOMBE) [RCV000016389] Chr11:5226714 [GRCh38]
Chr11:5247944 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) single nucleotide variant Dominant beta-thalassemia [RCV005049348]|Hemoglobinopathy [RCV000016390]|not provided [RCV000985737]|not specified [RCV004586013] Chr11:5226693 [GRCh38]
Chr11:5247923 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance|other
NM_000518.4(HBB):c.277C>G (p.His93Asp) single nucleotide variant HEMOGLOBIN J (ALTGELD GARDENS) [RCV000016396] Chr11:5226615 [GRCh38]
Chr11:5247845 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.54G>C (p.Lys18Asn) single nucleotide variant HEMOGLOBIN J (AMIENS) [RCV000016397] Chr11:5226968 [GRCh38]
Chr11:5248198 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.197A>T (p.Lys66Met) single nucleotide variant HEMOGLOBIN J (ANTAKYA) [RCV000016398] Chr11:5226695 [GRCh38]
Chr11:5247925 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.77G>A (p.Gly26Asp) single nucleotide variant HEMOGLOBIN J (AUCKLAND) [RCV000016399] Chr11:5226945 [GRCh38]
Chr11:5248175 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) single nucleotide variant HEMOGLOBIN J (BALTIMORE) [RCV000016400]|not provided [RCV000755547]|not specified [RCV004562214] Chr11:5226972 [GRCh38]
Chr11:5248202 [GRCh37]
Chr11:11p15.4
benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.194G>A (p.Gly65Asp) single nucleotide variant HEMOGLOBIN J (BARI) [RCV000016412]|HEMOGLOBIN J (CALABRIA) [RCV000016410]|HEMOGLOBIN J (COSENZA) [RCV000016411] Chr11:5226698 [GRCh38]
Chr11:5247928 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.230C>A (p.Ala77Asp) single nucleotide variant HEMOGLOBIN J (CHICAGO) [RCV000016413] Chr11:5226662 [GRCh38]
Chr11:5247892 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.386C>A (p.Ala129Asp) single nucleotide variant HEMOGLOBIN J (GUANTANAMO) [RCV000016416] Chr11:5225656 [GRCh38]
Chr11:5246886 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.232C>G (p.His78Asp) single nucleotide variant HEMOGLOBIN J (IRAN) [RCV000016417]|not provided [RCV000985739] Chr11:5226660 [GRCh38]
Chr11:5247890 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) single nucleotide variant HEMOGLOBIN J (LOME) [RCV000016421]|beta Thalassemia [RCV001272126]|not provided [RCV001800301]|not specified [RCV001001409] Chr11:5226712 [GRCh38]
Chr11:5247942 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.25A>C (p.Lys9Gln) single nucleotide variant HEMOGLOBIN J (LUHE) [RCV000016422] Chr11:5226997 [GRCh38]
Chr11:5248227 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) single nucleotide variant not provided [RCV001811155]|not specified [RCV000016423] Chr11:5226683 [GRCh38]
Chr11:5247913 [GRCh37]
Chr11:11p15.4
pathogenic|benign|likely benign|other
NM_000518.5(HBB):c.198G>C (p.Lys66Asn) single nucleotide variant HEMOGLOBIN J (SICILIA) [RCV000016425] Chr11:5226694 [GRCh38]
Chr11:5247924 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.389C>A (p.Ala130Asp) single nucleotide variant HEMOGLOBIN J (TAICHUNG) [RCV000016426]|HEMOGLOBIN K (CAMEROON) [RCV000016429] Chr11:5225653 [GRCh38]
Chr11:5246883 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.328G>C (p.Val110Leu) single nucleotide variant HEMOGLOBIN JOHNSTOWN [RCV000016428]|not provided [RCV001284154] Chr11:5225714 [GRCh38]
Chr11:5246944 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) single nucleotide variant HEMOGLOBIN K (WOOLWICH) [RCV000016431]|not provided [RCV001284159]|not specified [RCV000780329] Chr11:5225645 [GRCh38]
Chr11:5246875 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV003338382]|Beta-thalassemia major [RCV001794452]|Dominant beta-thalassemia [RCV005049349]|HBB-related disorder [RCV004732545]|Hb SS disease [RCV001004351]|beta Thalassemia [RCV000016432]|not provided [RCV000506942] Chr11:5226930 [GRCh38]
Chr11:5248160 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.308A>C (p.Asn103Thr) single nucleotide variant not specified [RCV000016434] Chr11:5226584 [GRCh38]
Chr11:5247814 [GRCh37]
Chr11:11p15.4
benign|other
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641495]|HEMOGLOBIN KEMPSEY [RCV000016436] Chr11:5226594 [GRCh38]
Chr11:5247824 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.208G>C (p.Gly70Arg) single nucleotide variant HEMOGLOBIN KENITRA [RCV000016437]|not provided [RCV004998085] Chr11:5226684 [GRCh38]
Chr11:5247914 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) single nucleotide variant HEMOGLOBIN KHARTOUM [RCV000016438]|Hemoglobinopathy [RCV000780333]|not provided [RCV004998086] Chr11:5225668 [GRCh38]
Chr11:5246898 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance|other
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) single nucleotide variant Beta-Knossos-thalassemia [RCV000016441]|Beta-plus-thalassemia [RCV000016440]|Dominant beta-thalassemia [RCV005049350]|HEMOGLOBIN KNOSSOS [RCV000016439]|Hb SS disease [RCV001004353]|Hemoglobinopathy [RCV000780311]|Malaria, susceptibility to [RCV003992156]|beta Thalassemia [RCV000169609]|not provided [RCV000757368] Chr11:5226940 [GRCh38]
Chr11:5248170 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000518.5(HBB):c.295G>A (p.Val99Met) single nucleotide variant Heinz body anemia [RCV000016446]|Hemoglobinopathy [RCV000016443]|beta Thalassemia [RCV001826464]|not provided [RCV001811157] Chr11:5226597 [GRCh38]
Chr11:5247827 [GRCh37]
Chr11:11p15.4
pathogenic|other
HBB, 15-BP INS insertion HEMOGLOBIN KORIYAMA [RCV000016447] Chr11:11p15.5 other
NM_000518.4(HBB):c.19G>C (p.Glu7Gln) single nucleotide variant HEMOGLOBIN MACHIDA [RCV000016448]|not specified [RCV005055515] Chr11:5227003 [GRCh38]
Chr11:5248233 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) single nucleotide variant HEMOGLOBIN KORLE-BU [RCV000016449]|beta Thalassemia [RCV001826465]|not provided [RCV000587238]|not specified [RCV000855647] Chr11:5226672 [GRCh38]
Chr11:5247902 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|other
NM_000518.5(HBB):c.389C>T (p.Ala130Val) single nucleotide variant Dominant beta-thalassemia [RCV005049351]|HEMOGLOBIN LA DESIRADE [RCV000016450]|Hb SS disease [RCV001004559]|Hemoglobinopathy [RCV001804165]|not provided [RCV001284158] Chr11:5225653 [GRCh38]
Chr11:5246883 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) single nucleotide variant HEMOGLOBIN LAS PALMAS [RCV000016451]|not provided [RCV003476894]|not specified [RCV001804737] Chr11:5226743 [GRCh38]
Chr11:5247973 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) microsatellite HEMOGLOBIN LEIDEN [RCV000016452]|not provided [RCV001800302] Chr11:5226998..5227000 [GRCh38]
Chr11:5248228..5248230 [GRCh37]
Chr11:11p15.4
likely pathogenic|other
HBB, HBB/HBD FUSION, HBD137DEL fusion HBB/HBD anti-Lepore [RCV000016454]|HEMOGLOBIN LINCOLN PARK [RCV000016453] Chr11:11p15.5 pathogenic|other
NM_000518.4(HBB):c.109C>A (p.Pro37Thr) single nucleotide variant HEMOGLOBIN LINKOPING [RCV000016455]|HEMOGLOBIN MEILAHTI [RCV000016456] Chr11:5226783 [GRCh38]
Chr11:5248013 [GRCh37]
Chr11:11p15.4
other
Hb Little Rock single nucleotide variant Erythrocytosis, familial, 6 [RCV000641506] Chr11:5225610 [GRCh38]
Chr11:5246840 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) single nucleotide variant Hemolytic anemia [RCV000016458] Chr11:5226765 [GRCh38]
Chr11:5247995 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.89G>A (p.Gly30Asp) single nucleotide variant HEMOGLOBIN LUFKIN [RCV000016460]|not provided [RCV004998087] Chr11:5226933 [GRCh38]
Chr11:5248163 [GRCh37]
Chr11:11p15.4
likely pathogenic|other
NM_000518.5(HBB):c.54_59del (p.Lys18_Val19del) deletion HEMOGLOBIN LYON [RCV000016461] Chr11:5226963..5226968 [GRCh38]
Chr11:5248193..5248198 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.203T>A (p.Val68Glu) single nucleotide variant HEMOGLOBIN M (MILWAUKEE 1) [RCV000016462]|METHEMOGLOBINEMIA, BETA TYPE [RCV000641512] Chr11:5226689 [GRCh38]
Chr11:5247919 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.277C>T (p.His93Tyr) single nucleotide variant HEMOGLOBIN M (AKITA) [RCV000016465]|HEMOGLOBIN M (HYDE PARK) [RCV000016464]|HEMOGLOBIN M (MILWAUKEE 2) [RCV000016463]|METHEMOGLOBINEMIA, BETA TYPE [RCV000641516]|not provided [RCV003476895] Chr11:5226615 [GRCh38]
Chr11:5247845 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.190C>T (p.His64Tyr) single nucleotide variant HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE [RCV000641524]|HEMOGLOBIN M (SASKATOON) [RCV000016466]|Inborn genetic diseases [RCV001266995]|METHEMOGLOBINEMIA, BETA TYPE [RCV005429213]|beta Thalassemia [RCV000988480]|not provided [RCV004998088] Chr11:5226702 [GRCh38]
Chr11:5247932 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) single nucleotide variant Beta-Malay-thalassemia [RCV000016481]|Beta-plus-thalassemia [RCV000016480]|HEMOGLOBIN MALAY [RCV000016479]|beta Thalassemia [RCV000020338]|not provided [RCV000508637] Chr11:5226963 [GRCh38]
Chr11:5248193 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.142G>T (p.Asp48Tyr) single nucleotide variant HEMOGLOBIN MAPUTO [RCV000016483]|not provided [RCV004998089] Chr11:5226750 [GRCh38]
Chr11:5247980 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.8A>C (p.His3Pro) single nucleotide variant not specified [RCV000016485] Chr11:5227014 [GRCh38]
Chr11:5248244 [GRCh37]
Chr11:11p15.4
pathogenic|benign|uncertain significance|other
NM_000518.4(HBB):c.125T>A (p.Phe42Tyr) single nucleotide variant HEMOGLOBIN MEQUON [RCV000016488] Chr11:5226767 [GRCh38]
Chr11:5247997 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641529]|HEMOGLOBIN MCKEES ROCKS [RCV000016489] Chr11:5225604 [GRCh38]
Chr11:5246834 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.356T>A (p.Phe119Tyr) single nucleotide variant HEMOGLOBIN MINNEAPOLIS-LAOS [RCV000016490] Chr11:5225686 [GRCh38]
Chr11:5246916 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.433A>G (p.Lys145Glu) single nucleotide variant HEMOGLOBIN MITO [RCV000016493] Chr11:5225609 [GRCh38]
Chr11:5246839 [GRCh37]
Chr11:11p15.4
other
NC_000011.10:g.5226955_5234367dup duplication HBB/HBD anti-Lepore [RCV000016495]|HEMOGLOBIN MIYADA [RCV000016494] Chr11:5226954..5226955 [GRCh38]
Chr11:5248184..5248185 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.71T>G (p.Val24Gly) single nucleotide variant HEMOGLOBIN MIYASHIRO [RCV000016496] Chr11:5226951 [GRCh38]
Chr11:5248181 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV003447476]|HEMOGLOBIN MIZUHO [RCV000016497] Chr11:5226686 [GRCh38]
Chr11:5247916 [GRCh37]
Chr11:11p15.4
likely pathogenic|other
F83S variation HEMOGLOBIN MIZUNAMI [RCV000016498] Chr11:11p15.5 other
NM_000518.4(HBB):c.221A>T (p.Asp74Val) single nucleotide variant HEMOGLOBIN MOBILE [RCV000016499] Chr11:5226671 [GRCh38]
Chr11:5247901 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.292C>T (p.His98Tyr) single nucleotide variant HEMOGLOBIN MORIGUCHI [RCV000016500] Chr11:5226600 [GRCh38]
Chr11:5247830 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.74G>A (p.Gly25Asp) single nucleotide variant HEMOGLOBIN MOSCVA [RCV000016501] Chr11:5226948 [GRCh38]
Chr11:5248178 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.278A>G (p.His93Arg) single nucleotide variant HEMOGLOBIN MOZHAISK [RCV000016502] Chr11:5226614 [GRCh38]
Chr11:5247844 [GRCh37]
Chr11:11p15.4
other
HBB, LYS95ASP variation HEMOGLOBIN N, BETA TYPE [RCV000016503] Chr11:11p15.5 other
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) single nucleotide variant HEMOGLOBIN HOPKINS 1 [RCV000016507]|HEMOGLOBIN JENKINS [RCV000016506]|HEMOGLOBIN KENWOOD [RCV000016508]|HEMOGLOBIN N (BALTIMORE) [RCV000016504]|HEMOGLOBIN N (JENKINS) [RCV000016505]|beta Thalassemia [RCV001835628]|not provided [RCV000755549]|not specified [RCV000506157] Chr11:5226606 [GRCh38]
Chr11:5247836 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|other
HBB, LYS95GLX variation HEMOGLOBIN N (MEMPHIS) [RCV000016509] Chr11:11p15.5 other
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) single nucleotide variant HEMOGLOBIN N (SEATTLE) [RCV000016510]|beta Thalassemia [RCV001826466]|not provided [RCV001811159]|not specified [RCV004525854] Chr11:5226708 [GRCh38]
Chr11:5247938 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) single nucleotide variant HEMOGLOBIN N (TIMONE) [RCV000016511]|not provided [RCV001269803] Chr11:5226997 [GRCh38]
Chr11:5248227 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.52A>G (p.Lys18Glu) single nucleotide variant HEMOGLOBIN NAGASAKI [RCV000016512] Chr11:5226970 [GRCh38]
Chr11:5248200 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.293A>C (p.His98Pro) single nucleotide variant HEMOGLOBIN NAGOYA [RCV000016513] Chr11:5226599 [GRCh38]
Chr11:5247829 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.392A>C (p.Tyr131Ser) single nucleotide variant HEMOGLOBIN NEVERS [RCV000016514] Chr11:5225650 [GRCh38]
Chr11:5246880 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.302C>G (p.Pro101Arg) single nucleotide variant HEMOGLOBIN NEW MEXICO [RCV000016515]|not provided [RCV001811160] Chr11:5226590 [GRCh38]
Chr11:5247820 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.278A>C (p.His93Pro) single nucleotide variant HEMOGLOBIN NEWCASTLE [RCV000016518] Chr11:5226614 [GRCh38]
Chr11:5247844 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.131_139del (p.Glu44_Phe46del) deletion HEMOGLOBIN NITEROI [RCV000016519] Chr11:5226753..5226761 [GRCh38]
Chr11:5247983..5247991 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.109C>T (p.Pro37Ser) single nucleotide variant HEMOGLOBIN NORTH CHICAGO [RCV000016520] Chr11:5226783 [GRCh38]
Chr11:5248013 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.404T>A (p.Val135Glu) single nucleotide variant Hemoglobinopathy [RCV000016521] Chr11:5225638 [GRCh38]
Chr11:5246868 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.296T>G (p.Val99Gly) single nucleotide variant HEMOGLOBIN NOTTINGHAM [RCV000016523] Chr11:5226596 [GRCh38]
Chr11:5247826 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) single nucleotide variant Dominant beta-thalassemia [RCV002476974]|HEMOGLOBIN EGYPT [RCV000016525]|HEMOGLOBIN O (ARAB) [RCV000016524]|Hb SS disease [RCV000202511]|Sickle cell-Hemoglobin O Arab disease [RCV000587075]|beta Thalassemia [RCV000029993]|not provided [RCV000508438] Chr11:5225678 [GRCh38]
Chr11:5246908 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance|other
NM_000518.4(HBB):c.158A>C (p.Asp53Ala) single nucleotide variant HEMOGLOBIN OCHO RIOS [RCV000016526]|not provided [RCV004998090] Chr11:5226734 [GRCh38]
Chr11:5247964 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.428C>A (p.Ala143Asp) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641554]|HEMOGLOBIN OHIO [RCV000016527]|not provided [RCV004998091] Chr11:5225614 [GRCh38]
Chr11:5246844 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|other
NM_000518.4(HBB):c.146T>G (p.Leu49Arg) single nucleotide variant HEMOGLOBIN OKALOOSA [RCV000016528] Chr11:5226746 [GRCh38]
Chr11:5247976 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.9T>A (p.His3Gln) single nucleotide variant HEMOGLOBIN OKAYAMA [RCV000016529]|not provided [RCV003736540] Chr11:5227013 [GRCh38]
Chr11:5248243 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.5(HBB):c.280T>C (p.Cys94Arg) single nucleotide variant HEMOGLOBIN OKAZAKI [RCV000016530] Chr11:5226612 [GRCh38]
Chr11:5247842 [GRCh37]
Chr11:11p15.4
other
NM_000518.5:c.436T>A single nucleotide variant Erythrocytosis 6, familial [RCV000641560]|HEMOGLOBIN FORT GORDON [RCV000016536]|HEMOGLOBIN NANCY [RCV000016535]|HEMOGLOBIN OSLER [RCV000016534] Chr11:11p15.5 pathogenic|other
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) single nucleotide variant beta Thalassemia [RCV000029964]|not provided [RCV001811161]|not specified [RCV000016537] Chr11:5226735 [GRCh38]
Chr11:5247965 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.350A>G (p.His117Arg) single nucleotide variant HEMOGLOBIN P (GALVESTON) [RCV000016539]|HEMOGLOBIN P [RCV000016538] Chr11:5225692 [GRCh38]
Chr11:5246922 [GRCh37]
Chr11:11p15.4
other
HBB, HBB/HBD FUSION fusion HBB/HBD anti-Lepore [RCV004558263]|HEMOGLOBIN P (CONGO) [RCV000016540] Chr11:11p15.5 pathogenic|other
HBB, HBB/HBD FUSION fusion HBB/HBD anti-Lepore [RCV000016543]|HEMOGLOBIN P (NILOTIC) [RCV000016542] Chr11:11p15.5 pathogenic|other
NM_000518.4(HBB):c.70G>T (p.Val24Phe) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641570]|HEMOGLOBIN PALMERSTON NORTH [RCV000016544] Chr11:5226952 [GRCh38]
Chr11:5248182 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.227T>G (p.Leu76Arg) single nucleotide variant HEMOGLOBIN PASADENA [RCV000016545] Chr11:5226665 [GRCh38]
Chr11:5247895 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.98T>C (p.Leu33Pro) single nucleotide variant HEMOGLOBIN ABRAHAM LINCOLN [RCV000016547]|HEMOGLOBIN KOBE [RCV000016548]|HEMOGLOBIN PERTH [RCV000016546]|not provided [RCV003480032] Chr11:5226794 [GRCh38]
Chr11:5248024 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.334G>T (p.Val112Phe) single nucleotide variant HEMOGLOBIN PETERBOROUGH [RCV000016549] Chr11:5225708 [GRCh38]
Chr11:5246938 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) single nucleotide variant HEMOGLOBIN PIERRE-BENITE [RCV000016551]|Hemoglobinopathy [RCV003387724] Chr11:5226619 [GRCh38]
Chr11:5247849 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.103G>T (p.Val35Phe) single nucleotide variant Dominant beta-thalassemia [RCV005049353]|Erythrocytosis [RCV000016552]|Erythrocytosis, familial, 6 [RCV000641578]|not provided [RCV001284488] Chr11:5226789 [GRCh38]
Chr11:5248019 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641589]|HEMOGLOBIN RADCLIFFE [RCV000016555] Chr11:5226593 [GRCh38]
Chr11:5247823 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) single nucleotide variant HEMOGLOBIN PORTO ALEGRE [RCV000016556]|not provided [RCV000985743]|not specified [RCV000508345] Chr11:5226993 [GRCh38]
Chr11:5248223 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|other
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641582]|HEMOGLOBIN POTOMAC [RCV000016557] Chr11:5226586 [GRCh38]
Chr11:5247816 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641585]|HEMOGLOBIN PROVIDENCE [RCV000016559] Chr11:5226643 [GRCh38]
Chr11:5247873 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) single nucleotide variant HEMOGLOBIN PYRGOS [RCV000016560]|not provided [RCV001811162]|not specified [RCV003234909] Chr11:5226641 [GRCh38]
Chr11:5247871 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance|other
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641593]|HEMOGLOBIN RAHERE [RCV000016561] Chr11:5226644 [GRCh38]
Chr11:5247874 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.5T>C (p.Val2Ala) single nucleotide variant HEMOGLOBIN RALEIGH [RCV000016563]|beta Thalassemia [RCV001831571]|not provided [RCV001811163]|not specified [RCV000781459] Chr11:5227017 [GRCh38]
Chr11:5248247 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance|other
NM_000518.5(HBB):c.46T>G (p.Trp16Gly) single nucleotide variant HEMOGLOBIN RANDWICK [RCV000016564] Chr11:5226976 [GRCh38]
Chr11:5248206 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.309C>R (p.Asn103Lys) single nucleotide variant HEMOGLOBIN RICHMOND [RCV000016566] Chr11:5226583 [GRCh38]
Chr11:5247813 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.73G>C (p.Gly25Arg) single nucleotide variant HEMOGLOBIN RIVERDALE-BRONX [RCV000016567] Chr11:5226949 [GRCh38]
Chr11:5248179 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) single nucleotide variant not provided [RCV000589733]|not specified [RCV000016568] Chr11:5225679 [GRCh38]
Chr11:5246909 [GRCh37]
Chr11:11p15.4
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.112T>A (p.Trp38Arg) single nucleotide variant HEMOGLOBIN ROTHSCHILD [RCV000016571] Chr11:5226780 [GRCh38]
Chr11:5248010 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.304G>C (p.Glu102Gln) single nucleotide variant HEMOGLOBIN RUSH [RCV000016572] Chr11:5226588 [GRCh38]
Chr11:5247818 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.20A>T (p.Glu7Val) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV002288496]|Dominant beta-thalassemia [RCV000477892]|Dominant beta-thalassemia [RCV001535873]|Dominant beta-thalassemia [RCV005049354]|Dominant beta-thalassemia [RCV005357130]|Fetal hemoglobin quantitative trait locus 1 [RCV000723337]|HBB-related disorder [RCV001824571]|HEMOGLOBIN S [RCV000016573]|Hb SS disease [RCV000016574]|Hereditary persistence of fetal hemoglobin [RCV005229802]|Inborn genetic diseases [RCV000623118]|Malaria, resistance to [RCV000016575]|Malaria, susceptibility to [RCV003989286]|See cases [RCV002251908]|Sickle cell disease and related diseases [RCV001192494]|Sickle cell-hemoglobin C disease [RCV003150808]|beta Thalassemia [RCV000576548]|not provided [RCV000224000] Chr11:5227002 [GRCh38]
Chr11:5248232 [GRCh37]
Chr11:11p15.4
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective|other|not provided
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) single nucleotide variant HEMOGLOBIN SABINE [RCV000016581]|not specified [RCV000508375] Chr11:5226617 [GRCh38]
Chr11:5247847 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.350A>C (p.His117Pro) single nucleotide variant HEMOGLOBIN SAITAMA [RCV000016583] Chr11:5225692 [GRCh38]
Chr11:5246922 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) single nucleotide variant Dominant beta-thalassemia [RCV002490377]|HEMOGLOBIN SAKI [RCV000016584]|beta Thalassemia [RCV001826467]|not provided [RCV000508682]|not specified [RCV001527030] Chr11:5226978 [GRCh38]
Chr11:5248208 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.328G>A (p.Val110Met) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641606]|HEMOGLOBIN SAN DIEGO [RCV000016585]|Hemoglobinopathy [RCV001553627]|beta Thalassemia [RCV000169614]|not provided [RCV003476897] Chr11:5225714 [GRCh38]
Chr11:5246944 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV003137530]|HEMOGLOBIN SANTA ANA [RCV000016586]|not provided [RCV000757364] Chr11:5226626 [GRCh38]
Chr11:5247856 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.74G>T (p.Gly25Val) single nucleotide variant HEMOGLOBIN SAVANNAH [RCV000016587] Chr11:5226948 [GRCh38]
Chr11:5248178 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.431del (p.His144fs) deletion HEMOGLOBIN SAVERNE [RCV000016588] Chr11:5225611 [GRCh38]
Chr11:5246841 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.212C>A (p.Ala71Asp) single nucleotide variant HEMOGLOBIN SEATTLE [RCV000016589] Chr11:5226680 [GRCh38]
Chr11:5247910 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.127T>G (p.Phe43Val) single nucleotide variant Hemolytic anemia [RCV000016590] Chr11:5226765 [GRCh38]
Chr11:5247995 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.395A>C (p.Gln132Pro) single nucleotide variant HEMOGLOBIN SHANGHAI [RCV000016592] Chr11:5225647 [GRCh38]
Chr11:5246877 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) single nucleotide variant HEMOGLOBIN DEACONESS [RCV000016595]|HEMOGLOBIN LESLIE [RCV000016594]|HEMOGLOBIN SHELBY [RCV000016593]|not provided [RCV000759798]|not specified [RCV001001860] Chr11:5225648 [GRCh38]
Chr11:5246878 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance|other
NM_000518.4(HBB):c.224G>A (p.Gly75Asp) single nucleotide variant HEMOGLOBIN SHEPHERDS BUSH [RCV000016596] Chr11:5226668 [GRCh38]
Chr11:5247898 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) single nucleotide variant HEMOGLOBIN SHERWOOD FOREST [RCV000016597]|not specified [RCV000507183] Chr11:5226578 [GRCh38]
Chr11:5247808 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) single nucleotide variant Beta-Showa-Yakushiji thalassemia [RCV000016600]|Beta-plus-thalassemia [RCV000016599]|Beta-thalassemia HBB/LCRB [RCV004689418]|HEMOGLOBIN SHOWA-YAKUSHIJI [RCV000016598]|Hb SS disease [RCV001004561]|beta Thalassemia [RCV000589517]|not provided [RCV002476975] Chr11:5225710 [GRCh38]
Chr11:5246940 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) single nucleotide variant not provided [RCV001800303]|not specified [RCV000016602] Chr11:5227000 [GRCh38]
Chr11:5248230 [GRCh37]
Chr11:11p15.4
pathogenic|benign|uncertain significance|other
NM_000518.5(HBB):c.307A>T (p.Asn103Tyr) single nucleotide variant HEMOGLOBIN ST. MANDE [RCV000016603] Chr11:5226585 [GRCh38]
Chr11:5247815 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) single nucleotide variant HEMOGLOBIN SOGN [RCV000016604]|beta Thalassemia [RCV001272129]|not provided [RCV000588440]|not specified [RCV005237383] Chr11:5226978 [GRCh38]
Chr11:5248208 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.320T>C (p.Leu107Pro) single nucleotide variant HEMOGLOBIN CASPER [RCV000016606]|HEMOGLOBIN SOUTHAMPTON [RCV000016605] Chr11:5225722 [GRCh38]
Chr11:5246952 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.71T>A (p.Val24Asp) single nucleotide variant HEMOGLOBIN STRASBOURG [RCV000016608]|not provided [RCV000985755] Chr11:5226951 [GRCh38]
Chr11:5248181 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.4G>A (p.Val2Met) single nucleotide variant HEMOGLOBIN SOUTH FLORIDA [RCV000016609]|beta Thalassemia [RCV001831572]|not provided [RCV005229803]|not specified [RCV000508674] Chr11:5227018 [GRCh38]
Chr11:5248248 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del) deletion HEMOGLOBIN ST. ANTOINE [RCV000016610] Chr11:5226663..5226668 [GRCh38]
Chr11:5247893..5247898 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) single nucleotide variant HEMOGLOBIN ST. LOUIS [RCV000016611]|Heinz body anemia [RCV000016612] Chr11:5226936 [GRCh38]
Chr11:5248166 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.157G>C (p.Asp53His) single nucleotide variant HEMOGLOBIN SUMMER HILL [RCV000016613]|beta Thalassemia [RCV001826468]|not provided [RCV001284630]|not specified [RCV000506716] Chr11:5226735 [GRCh38]
Chr11:5247965 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.110C>G (p.Pro37Arg) single nucleotide variant HEMOGLOBIN SUNNYBROOK [RCV000016614] Chr11:5226782 [GRCh38]
Chr11:5248012 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.203T>C (p.Val68Ala) single nucleotide variant HEMOGLOBIN SYDNEY [RCV000016615] Chr11:5226689 [GRCh38]
Chr11:5247919 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.431A>C (p.His144Pro) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641613]|HEMOGLOBIN SYRACUSE [RCV000016616]|not specified [RCV001001407] Chr11:5225611 [GRCh38]
Chr11:5246841 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.250G>T (p.Gly84Cys) single nucleotide variant HEMOGLOBIN TA-LI [RCV000016618]|not provided [RCV000985740] Chr11:5226642 [GRCh38]
Chr11:5247872 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV002288497]|Heinz body anemia [RCV000016620]|beta Thalassemia [RCV001831573]|not provided [RCV000985758]|not specified [RCV000016619] Chr11:5226799 [GRCh38]
Chr11:5248029 [GRCh37]
Chr11:11p15.4
pathogenic|benign|uncertain significance|other
NM_000518.4(HBB):c.439_440dupCA (p.Ter148Thrfs) duplication HEMOGLOBIN TAK [RCV000016621] Chr11:5225602..5225603 [GRCh38]
Chr11:5246832..5246833 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.361A>C (p.Lys121Gln) single nucleotide variant HEMOGLOBIN TAKAMATSU [RCV000016622] Chr11:5225681 [GRCh38]
Chr11:5246911 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) single nucleotide variant HEMOGLOBIN TAMPA [RCV000016623]|not provided [RCV001811164] Chr11:5226654 [GRCh38]
Chr11:5247884 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.4(HBB):c.221A>G (p.Asp74Gly) single nucleotide variant HEMOGLOBIN TILBURG [RCV000016625] Chr11:5226671 [GRCh38]
Chr11:5247901 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.170_181del (p.Gly57_Lys60del) deletion HEMOGLOBIN TOCHIGI [RCV000016626] Chr11:5226711..5226722 [GRCh38]
Chr11:5247941..5247952 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.262_264del (p.Thr88del) deletion HEMOGLOBIN TOURS [RCV000016627] Chr11:5226628..5226630 [GRCh38]
Chr11:5247858..5247860 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.427G>C (p.Ala143Pro) single nucleotide variant HEMOGLOBIN TOYOAKE [RCV000016628] Chr11:5225615 [GRCh38]
Chr11:5246845 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.155C>G (p.Pro52Arg) single nucleotide variant HEMOGLOBIN WILLAMETTE [RCV000016629] Chr11:5226737 [GRCh38]
Chr11:5247967 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) single nucleotide variant METHEMOGLOBINEMIA, BETA TYPE [RCV000016630] Chr11:5225722 [GRCh38]
Chr11:5246952 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641615]|HEMOGLOBIN TY GARD [RCV000016632]|not provided [RCV000759072] Chr11:5225668 [GRCh38]
Chr11:5246898 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|other
NM_000518.5(HBB):c.118C>G (p.Gln40Glu) single nucleotide variant HEMOGLOBIN VAASA [RCV000016633] Chr11:5226774 [GRCh38]
Chr11:5248004 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.220G>T (p.Asp74Tyr) single nucleotide variant HEMOGLOBIN VANCOUVER [RCV000016634] Chr11:5226672 [GRCh38]
Chr11:5247902 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641619]|HEMOGLOBIN VANDERBILT [RCV000016635] Chr11:5226624 [GRCh38]
Chr11:5247854 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) single nucleotide variant HEMOGLOBIN VILLEJUIF [RCV000016637]|beta Thalassemia [RCV001277082]|not provided [RCV003476898]|not specified [RCV000506551] Chr11:5225671 [GRCh38]
Chr11:5246901 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) single nucleotide variant HEMOGLOBIN DRENTHE [RCV000016639]|HEMOGLOBIN VOLGA [RCV000016638]|not provided [RCV001800304] Chr11:5226939 [GRCh38]
Chr11:5248169 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.293A>T (p.His98Leu) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641622]|HEMOGLOBIN WOOD [RCV000016643]|not provided [RCV005229804] Chr11:5226599 [GRCh38]
Chr11:5247829 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.298G>C (p.Asp100His) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641624]|HEMOGLOBIN YAKIMA [RCV000016644] Chr11:5226594 [GRCh38]
Chr11:5247824 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.181G>C (p.Val61Leu) single nucleotide variant HEMOGLOBIN YATSUSHIRO [RCV000016646] Chr11:5226711 [GRCh38]
Chr11:5247941 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.95T>C (p.Leu32Pro) single nucleotide variant HEMOGLOBIN YOKOHAMA [RCV000016647] Chr11:5226797 [GRCh38]
Chr11:5248027 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.440A>C (p.His147Pro) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641629]|HEMOGLOBIN YORK [RCV000016648] Chr11:5225602 [GRCh38]
Chr11:5246832 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.325A>G (p.Asn109Asp) single nucleotide variant HEMOGLOBIN YOSHIZUKA [RCV000016649] Chr11:5225717 [GRCh38]
Chr11:5246947 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641630]|HEMOGLOBIN YPSILANTI [RCV000016650] Chr11:5226594 [GRCh38]
Chr11:5247824 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.176C>G (p.Pro59Arg) single nucleotide variant Hemoglobinopathy [RCV000016651]|not provided [RCV004998092]|not specified [RCV002222352] Chr11:5226716 [GRCh38]
Chr11:5247946 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|other
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) single nucleotide variant HEMOGLOBIN YUSA [RCV000016653]|not provided [RCV000759802] Chr11:5226958 [GRCh38]
Chr11:5248188 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.4(HBB):c.191A>G (p.His64Arg) single nucleotide variant HEMOGLOBIN ZURICH [RCV000016654]|Hemoglobinopathy [RCV003987323]|not provided [RCV001284634] Chr11:5226701 [GRCh38]
Chr11:5247931 [GRCh37]
Chr11:11p15.4
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) single nucleotide variant Beta zero thalassemia [RCV000016655]|Beta-thalassemia HBB/LCRB [RCV002288498]|Dominant beta-thalassemia [RCV000763255]|Dominant beta-thalassemia [RCV005049356]|Dominant beta-thalassemia [RCV005400415]|Hb SS disease [RCV001004355]|beta Thalassemia [RCV000020337]|not provided [RCV000507505] Chr11:5226970 [GRCh38]
Chr11:5248200 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) single nucleotide variant Beta zero thalassemia [RCV000016656]|Beta-thalassemia HBB/LCRB [RCV002288499]|Dominant beta-thalassemia [RCV005003361]|HBB-related disorder [RCV004532366]|Hb SS disease [RCV001004570]|Heinz body anemia [RCV002221479]|Inborn genetic diseases [RCV002336086]|Malaria, susceptibility to [RCV003987324]|alpha Thalassemia [RCV001197268]|beta Thalassemia [RCV000379715]|not provided [RCV000254827] Chr11:5226774 [GRCh38]
Chr11:5226774..5226775 [GRCh38]
Chr11:5248004 [GRCh37]
Chr11:5248004..5248005 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) single nucleotide variant Beta zero thalassemia [RCV000016657]|Beta-thalassemia HBB/LCRB [RCV003985073]|Dominant beta-thalassemia [RCV005049357]|Hb SS disease [RCV001004356]|beta Thalassemia [RCV000576738]|not provided [RCV000508601] Chr11:5226975 [GRCh38]
Chr11:5248205 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430462]|Dominant beta-thalassemia [RCV000016658]|Hb SS disease [RCV001004560]|beta Thalassemia [RCV000984185]|not provided [RCV000507274] Chr11:5225678 [GRCh38]
Chr11:5246908 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) single nucleotide variant Beta zero thalassemia [RCV000016659]|Hemoglobinopathy [RCV000781456]|beta Thalassemia [RCV000169502]|not provided [RCV000506223] Chr11:5226778 [GRCh38]
Chr11:5248008 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) single nucleotide variant Beta zero thalassemia [RCV000016660]|Beta-thalassemia HBB/LCRB [RCV004795419]|Dominant beta-thalassemia [RCV005049358]|Hb SS disease [RCV001004568]|Hemoglobinopathy [RCV000780310]|beta Thalassemia [RCV000665678]|not provided [RCV000506797] Chr11:5226762 [GRCh38]
Chr11:5247992 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) single nucleotide variant Beta zero thalassemia [RCV000016661]|Dominant beta-thalassemia [RCV002504795]|beta Thalassemia [RCV001078254]|not provided [RCV000506527] Chr11:5226708 [GRCh38]
Chr11:5247938 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) single nucleotide variant Beta zero thalassemia [RCV000016662]|Dominant beta-thalassemia [RCV005049359]|beta Thalassemia [RCV001078304]|not provided [RCV001800305] Chr11:5226784 [GRCh38]
Chr11:5248014 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) single nucleotide variant Beta-Houston-thalassemia [RCV000016664]|Beta-plus-thalassemia, dominant [RCV000022611]|not specified [RCV001001456] Chr11:5225659 [GRCh38]
Chr11:5246889 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting data from submitters
NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro) deletion Beta-plus-thalassemia [RCV000016665] Chr11:5225657..5225659 [GRCh38]
Chr11:5246887..5246889 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.182T>A (p.Val61Glu) single nucleotide variant Beta-plus-thalassemia [RCV000016666]|HEMOGLOBIN CAGLIARI [RCV000016667] Chr11:5226710 [GRCh38]
Chr11:5247940 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.25_26del (p.Lys9fs) deletion Beta zero thalassemia [RCV000016669]|Beta-thalassemia HBB/LCRB [RCV002288500]|Dominant beta-thalassemia [RCV005049360]|HBB-related disorder [RCV004732546]|Hb SS disease [RCV001004358]|Malaria, susceptibility to [RCV003989287]|beta Thalassemia [RCV000029972]|not provided [RCV000506563] Chr11:5226996..5226997 [GRCh38]
Chr11:5248226..5248227 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.51del (p.Lys18fs) deletion Beta zero thalassemia [RCV000016670]|Beta-thalassemia HBB/LCRB [RCV003227603]|Dominant beta-thalassemia [RCV005003362]|HBB-related disorder [RCV004532367]|Hemoglobinopathy [RCV000590756]|Inborn genetic diseases [RCV002336087]|beta Thalassemia [RCV000173145]|not provided [RCV000724162] Chr11:5226971 [GRCh38]
Chr11:5248201 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.135del (p.Phe46fs) deletion Beta zero thalassemia [RCV000016671]|Beta-thalassemia HBB/LCRB [RCV004821260]|Dominant beta-thalassemia [RCV001723571]|Dominant beta-thalassemia [RCV005003363]|Malaria, susceptibility to [RCV004813042]|beta Thalassemia [RCV000169145]|not provided [RCV000507725] Chr11:5226757 [GRCh38]
Chr11:5247987 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.27dup (p.Ser10fs) duplication Beta zero thalassemia [RCV000016672]|Beta-thalassemia HBB/LCRB [RCV003221786]|Dominant beta-thalassemia [RCV005003405]|HBB-related disorder [RCV000368084]|Hb SS disease [RCV001004357]|Inborn genetic diseases [RCV004984649]|Malaria, susceptibility to [RCV003989106]|beta Thalassemia [RCV000029974]|not provided [RCV000479091] Chr11:5226994..5226995 [GRCh38]
Chr11:5248224..5248225 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|no classifications from unflagged records
NM_000518.5(HBB):c.126_129del (p.Phe42fs) deletion Beta zero thalassemia [RCV000016673]|Beta-thalassemia HBB/LCRB [RCV002465488]|Dominant beta-thalassemia [RCV005003364]|Dominant beta-thalassemia [RCV005400416]|Fetal hemoglobin quantitative trait locus 1 [RCV001262999]|HBB-related disorder [RCV004532368]|Hb SS disease [RCV001004569]|Hereditary persistence of fetal hemoglobin [RCV005229805]|Inborn genetic diseases [RCV002426507]|beta Thalassemia [RCV000020328]|not provided [RCV000508554] Chr11:5226763..5226766 [GRCh38]
Chr11:5247993..5247996 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.20del (p.Glu7fs) deletion Beta zero thalassemia [RCV000016674]|Beta-thalassemia HBB/LCRB [RCV004566746]|Dominant beta-thalassemia [RCV005003365]|Hb SS disease [RCV001004359]|beta Thalassemia [RCV000576555]|not provided [RCV001008068] Chr11:5227002 [GRCh38]
Chr11:5248232 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.230del (p.Ala77fs) deletion Beta zero thalassemia [RCV000016676]|beta Thalassemia [RCV000169256]|not provided [RCV000508493] Chr11:5226662 [GRCh38]
Chr11:5247892 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.17_18del (p.Pro6fs) deletion Beta zero thalassemia [RCV000016678]|Beta-thalassemia HBB/LCRB [RCV004566747]|Dominant beta-thalassemia [RCV005000984]|Dominant beta-thalassemia [RCV005003366]|HBB-related disorder [RCV004541006]|Hb SS disease [RCV001004360]|beta Thalassemia [RCV000586913]|not provided [RCV000506399] Chr11:5227004..5227005 [GRCh38]
Chr11:5248234..5248235 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.36del (p.Thr13fs) deletion Beta zero thalassemia [RCV000016679]|Hemoglobinopathy [RCV000781438]|beta Thalassemia [RCV001078331]|not provided [RCV000507506] Chr11:5226986 [GRCh38]
Chr11:5248216 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.110del (p.Pro37fs) deletion Beta zero thalassemia [RCV000016680]|beta Thalassemia [RCV000586096]|not provided [RCV000759790] Chr11:5226782 [GRCh38]
Chr11:5248012 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.343_344delinsG (p.Leu115fs) indel Beta zero thalassemia [RCV000016681] Chr11:5225698..5225699 [GRCh38]
Chr11:5246928..5246929 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) deletion Beta zero thalassemia [RCV000016684]|beta Thalassemia [RCV001078349]|not provided [RCV003114196] Chr11:5226772..5226778 [GRCh38]
Chr11:5248002..5248008 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) microsatellite Beta zero thalassemia [RCV000016685]|Dominant beta-thalassemia [RCV002513069] Chr11:5226608..5226609 [GRCh38]
Chr11:5247838..5247839 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.194del (p.Gly65fs) deletion Beta zero thalassemia [RCV000016686]|beta Thalassemia [RCV001078257] Chr11:5226698 [GRCh38]
Chr11:5247928 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.328del (p.Val110fs) deletion Beta zero thalassemia [RCV000016687]|HEMOGLOBIN MANHATTAN [RCV002284171] Chr11:5225714 [GRCh38]
Chr11:5246944 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.112del (p.Trp38fs) deletion Beta zero thalassemia [RCV000016688]|Dominant beta-thalassemia [RCV005003367]|Hb SS disease [RCV001004345]|Hemoglobinopathy [RCV000781455]|beta Thalassemia [RCV001078307]|not provided [RCV000508367] Chr11:5226780 [GRCh38]
Chr11:5248010 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.216dup (p.Ser73Ter) duplication Beta zero thalassemia [RCV000016690]|beta Thalassemia [RCV001078312] Chr11:5226675..5226676 [GRCh38]
Chr11:5247905..5247906 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.2T>G (p.Met1Arg) single nucleotide variant Beta zero thalassemia [RCV000016691]|Beta-thalassemia HBB/LCRB [RCV005430107]|Dominant beta-thalassemia [RCV005049363]|Hb SS disease [RCV001004361]|beta Thalassemia [RCV000664667]|not provided [RCV000505904] Chr11:5227020 [GRCh38]
Chr11:5248250 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.2T>C (p.Met1Thr) single nucleotide variant Beta zero thalassemia [RCV000016692]|Beta-thalassemia HBB/LCRB [RCV002465492]|Beta-thalassemia, lermontov type [RCV000016693]|Dominant beta-thalassemia [RCV005049390]|beta Thalassemia [RCV000029976]|not provided [RCV000508042] Chr11:5227020 [GRCh38]
Chr11:5248250 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.92+1G>A single nucleotide variant Beta zero thalassemia [RCV000016694]|Beta-thalassemia HBB/LCRB [RCV002288501]|Dominant beta-thalassemia [RCV004819209]|Dominant beta-thalassemia [RCV005003368]|Dominant beta-thalassemia [RCV005051735]|Erythrocytosis, familial, 6 [RCV005357131]|Fetal hemoglobin quantitative trait locus 1 [RCV001329338]|Hb SS disease [RCV001004350]|Inborn genetic diseases [RCV004975260]|beta Thalassemia [RCV000020340]|not provided [RCV000390929] Chr11:5226929 [GRCh38]
Chr11:5248159 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92+1G>T single nucleotide variant Beta zero thalassemia [RCV000016695]|Beta-thalassemia HBB/LCRB [RCV004689419]|Dominant beta-thalassemia [RCV005003369]|HBB-related disorder [RCV004532369]|Hb SS disease [RCV001004349]|Inborn genetic diseases [RCV002444432]|beta Thalassemia [RCV000169505]|not provided [RCV000507580] Chr11:5226929 [GRCh38]
Chr11:5248159 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+1G>A single nucleotide variant Beta zero thalassemia [RCV000016696]|Beta-thalassemia HBB/LCRB [RCV002288502]|Dominant beta-thalassemia [RCV001723572]|Dominant beta-thalassemia [RCV005003370]|Erythrocytosis, familial, 6 [RCV005357132]|Hb SS disease [RCV001004566]|Malaria, susceptibility to [RCV003987325]|beta Thalassemia [RCV000020332]|not provided [RCV000255349]|not specified [RCV001731303] Chr11:5226576 [GRCh38]
Chr11:5247806 [GRCh37]
Chr11:11p15.4
pathogenic
HBB, IVS1, T-G, +2 single nucleotide variant beta^0^ Thalassemia [RCV000016697] Chr11:11p15.5 pathogenic
HBB, IVS2, T-C, +2 single nucleotide variant beta^0^ Thalassemia [RCV000016698] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.93-17_93-1del deletion Beta zero thalassemia [RCV000016699]|beta Thalassemia [RCV001078335] Chr11:5226800..5226816 [GRCh38]
Chr11:5248030..5248046 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.93-22_95del deletion Beta zero thalassemia [RCV000016700]|Beta-thalassemia HBB/LCRB [RCV002465489]|Inborn genetic diseases [RCV002371773]|Malaria, susceptibility to [RCV003989288]|beta Thalassemia [RCV000030009]|not provided [RCV001052793]|not specified [RCV001731304] Chr11:5226797..5226821 [GRCh38]
Chr11:5248027..5248051 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|no classifications from unflagged records
HBB, IVS2, A-G, -2 single nucleotide variant beta^0^ Thalassemia [RCV000016701] Chr11:11p15.5 pathogenic
HBB, IVS2, A-C, -2 single nucleotide variant beta^0^ Thalassemia [RCV000016702] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.76_92+27del deletion Beta zero thalassemia [RCV000016703]|Hemoglobinopathy [RCV003317038]|beta Thalassemia [RCV001078435] Chr11:5226903..5226946 [GRCh38]
Chr11:5248133..5248176 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.93-1G>A single nucleotide variant Beta zero thalassemia [RCV000016704]|Dominant beta-thalassemia [RCV005049364]|beta Thalassemia [RCV000587419]|not provided [RCV000508208] Chr11:5226800 [GRCh38]
Chr11:5248030 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92+5G>C single nucleotide variant Beta-plus-thalassemia [RCV000016705]|Beta-thalassemia HBB/LCRB [RCV002288503]|Beta-thalassemia major [RCV001794453]|Dominant beta-thalassemia [RCV000763253]|Dominant beta-thalassemia [RCV004814907]|Dominant beta-thalassemia [RCV005049365]|HBB-related disorder [RCV004732547]|Hb SS disease [RCV001004348]|Hemoglobin E/beta- thalassemia [RCV005252684]|Hereditary persistence of fetal hemoglobin [RCV003445071]|Inborn genetic diseases [RCV002444433]|Malaria, susceptibility to [RCV003987326]|beta Thalassemia [RCV000020341]|not provided [RCV000255746] Chr11:5226925 [GRCh38]
Chr11:5248155 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92+5G>T single nucleotide variant Beta-plus-thalassemia [RCV000016706]|Beta-thalassemia HBB/LCRB [RCV005430463]|Dominant beta-thalassemia [RCV005049366]|beta Thalassemia [RCV000984182]|not provided [RCV000505898] Chr11:5226925 [GRCh38]
Chr11:5248155 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92+5G>A single nucleotide variant Beta-plus-thalassemia [RCV000016707]|Dominant beta-thalassemia [RCV005049367]|Hb SS disease [RCV005252685]|beta Thalassemia [RCV000030004]|not provided [RCV001216321] Chr11:5226925 [GRCh38]
Chr11:5248155 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000518.5(HBB):c.92+6T>C single nucleotide variant Beta thalassemia intermedia [RCV005406746]|Beta-plus-thalassemia [RCV000016708]|Beta-thalassemia HBB/LCRB [RCV004566748]|Dominant beta-thalassemia [RCV000763252]|Dominant beta-thalassemia [RCV005049368]|Erythrocytosis, familial, 6 [RCV005357133]|HBB-related disorder [RCV004532370]|Hb SS disease [RCV001004347]|Heinz body anemia [RCV002247349]|Inborn genetic diseases [RCV002371774]|Malaria, susceptibility to [RCV003988822]|beta Thalassemia [RCV000415353]|not provided [RCV000417932] Chr11:5226924 [GRCh38]
Chr11:5248154 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-3C>A single nucleotide variant Beta thalassemia intermedia [RCV000029987]|Beta-plus-thalassemia [RCV000016709]|Beta-thalassemia HBB/LCRB [RCV005430464]|Dominant beta-thalassemia [RCV002496382]|HBB-related disorder [RCV004528115]|beta Thalassemia [RCV000984183]|not provided [RCV000506607] Chr11:5225729 [GRCh38]
Chr11:5246959 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
HBB, IVS1, T-G, -3 single nucleotide variant Beta-plus-thalassemia [RCV000016710] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.316-8T>G single nucleotide variant Beta-plus-thalassemia [RCV000016711]|beta Thalassemia [RCV001078323]|not provided [RCV003556030] Chr11:5225734 [GRCh38]
Chr11:5246964 [GRCh37]
Chr11:11p15.4
pathogenic|likely benign
NM_000518.5(HBB):c.93-21G>A single nucleotide variant Beta-plus-thalassemia [RCV000016712]|Beta-thalassemia HBB/LCRB [RCV002288504]|Beta-thalassemia major [RCV000030008]|Dominant beta-thalassemia [RCV000763251]|Dominant beta-thalassemia [RCV005049369]|Erythrocytosis, familial, 6 [RCV005357134]|Fetal hemoglobin quantitative trait locus 1 [RCV001262998]|Hb SS disease [RCV001004346]|Inborn genetic diseases [RCV002371775]|Malaria, susceptibility to [RCV003989289]|beta Thalassemia [RCV000020343]|not provided [RCV000799079] Chr11:5226820 [GRCh38]
Chr11:5248050 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
HBB, IVS1, T-G, +16 single nucleotide variant beta0^ Thalassemia [RCV000016713]|beta^0^ Thalassemia [RCV000016713] Chr11:11p15.5 pathogenic
HBB, IVS2, T-G, +705 single nucleotide variant Beta-plus-thalassemia [RCV000016714] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.316-106C>G single nucleotide variant Beta-plus-thalassemia [RCV000016715]|Beta-thalassemia HBB/LCRB [RCV002288505]|Dominant beta-thalassemia [RCV002272021]|Dominant beta-thalassemia [RCV005003371]|Erythrocytosis, familial, 6 [RCV005357135]|HBB-related disorder [RCV004732548]|Hb SS disease [RCV001004564]|beta Thalassemia [RCV000029978]|not provided [RCV000506445] Chr11:5225832 [GRCh38]
Chr11:5247062 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.316-197C>T single nucleotide variant Beta zero thalassemia [RCV000016716]|Beta-thalassemia major [RCV000029984]|Dominant beta-thalassemia [RCV005049370]|HBB-related disorder [RCV004532371]|Hb SS disease [RCV001004565]|beta Thalassemia [RCV000020334]|not provided [RCV000794203] Chr11:5225923 [GRCh38]
Chr11:5247153 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.75T>A (p.Gly25=) single nucleotide variant Beta-plus-thalassemia [RCV000016717]|Dominant beta-thalassemia [RCV002496383]|Hb SS disease [RCV001004354]|beta Thalassemia [RCV000030002]|not provided [RCV000508672] Chr11:5226947 [GRCh38]
Chr11:5248177 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000011.10:g.5227159G>A single nucleotide variant Beta-plus-thalassemia [RCV000016718]|Dominant beta-thalassemia [RCV005049371]|Hemoglobinopathy [RCV000781453]|Inborn genetic diseases [RCV002390113]|beta Thalassemia [RCV000020324]|not provided [RCV000507151] Chr11:5227159 [GRCh38]
Chr11:5248389 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000011.10:g.5227172G>A single nucleotide variant Beta-plus-thalassemia [RCV000016719]|Beta-thalassemia HBB/LCRB [RCV004566749]|Dominant beta-thalassemia [RCV005003372]|HBB-related disorder [RCV004532372]|Malaria, susceptibility to [RCV003989290]|beta Thalassemia [RCV000169081]|not provided [RCV000820736] Chr11:5227172 [GRCh38]
Chr11:5248402 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|no classifications from unflagged records
NM_000518.5(HBB):c.-142C>T single nucleotide variant Beta thalassemia intermedia [RCV000589915]|Beta-plus-thalassemia [RCV000016720]|Dominant beta-thalassemia [RCV005049372]|beta Thalassemia [RCV000445639]|not provided [RCV003476899] Chr11:5227163 [GRCh38]
Chr11:5248393 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance|not provided
HBB, -88C-A single nucleotide variant Beta-plus-thalassemia [RCV000016721] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.-137C>G single nucleotide variant Beta thalassemia intermedia [RCV000029951]|Beta-plus-thalassemia [RCV000016722]|Dominant beta-thalassemia [RCV002496385]|beta Thalassemia [RCV000445653]|not provided [RCV000507653] Chr11:5227158 [GRCh38]
Chr11:5248388 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000011.10:g.5227157G>C single nucleotide variant Beta-plus-thalassemia [RCV000016723]|Beta-thalassemia HBB/LCRB [RCV004689420]|beta Thalassemia [RCV000029948]|not provided [RCV000505925] Chr11:5227157 [GRCh38]
Chr11:5248387 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.-81A>G single nucleotide variant Beta thalassemia intermedia [RCV001255596]|Beta-plus-thalassemia [RCV000016724]|Dominant beta-thalassemia [RCV005049373]|beta Thalassemia [RCV000445643]|not provided [RCV000506722] Chr11:5227102 [GRCh38]
Chr11:5248332 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227101A>T single nucleotide variant Beta-plus-thalassemia [RCV000016725]|beta Thalassemia [RCV000029962]|not provided [RCV000508486]|not specified [RCV001000147] Chr11:5227101 [GRCh38]
Chr11:5248331 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
HBB, -30T-C, PROMOTER single nucleotide variant Beta-plus-thalassemia [RCV000016726] Chr11:11p15.5 pathogenic
NC_000011.10:g.5227100T>C single nucleotide variant Beta-plus-thalassemia [RCV000016727]|Dominant beta-thalassemia [RCV005003373]|Heinz body anemia [RCV002247350]|Inborn genetic diseases [RCV002415420]|beta Thalassemia [RCV000020326]|not provided [RCV000810653] Chr11:5227100 [GRCh38]
Chr11:5248330 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-78A>C single nucleotide variant Beta-plus-thalassemia [RCV000016728]|Beta-thalassemia HBB/LCRB [RCV005430108]|Dominant beta-thalassemia [RCV005003374]|Hb SS disease [RCV001004363]|beta Thalassemia [RCV000589656]|not provided [RCV000508592] Chr11:5227099 [GRCh38]
Chr11:5248329 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-78A>G single nucleotide variant Beta-plus-thalassemia [RCV000016729]|Beta-thalassemia HBB/LCRB [RCV004795422]|Dominant beta-thalassemia [RCV005049374]|Hb SS disease [RCV001004362]|beta Thalassemia [RCV000029960]|not provided [RCV000506257] Chr11:5227099 [GRCh38]
Chr11:5248329 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
HBB, 3-UNT, T-C, +3 single nucleotide variant Beta-plus-thalassemia [RCV000016730] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.*113A>G single nucleotide variant Beta-plus-thalassemia [RCV000016731]|Beta-thalassemia HBB/LCRB [RCV005430109]|beta Thalassemia [RCV000445642]|not provided [RCV002513070] Chr11:5225485 [GRCh38]
Chr11:5246715 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.*116del deletion Beta-plus-thalassemia [RCV000016732] Chr11:5225482 [GRCh38]
Chr11:5246712 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*110_*111insG insertion Beta-plus-thalassemia [RCV000016733] Chr11:5225487..5225488 [GRCh38]
Chr11:5246717..5246718 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*112A>G single nucleotide variant Beta-plus-thalassemia [RCV000016734]|beta Thalassemia [RCV005055516] Chr11:5225486 [GRCh38]
Chr11:5246716 [GRCh37]
Chr11:11p15.4
pathogenic
HBB, CAP, A-C single nucleotide variant Beta-plus-thalassemia [RCV000016735] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln) deletion HEMOGLOBIN BIRMINGHAM [RCV000016736] Chr11:5225609..5225617 [GRCh38]
Chr11:5246839..5246847 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.293_295del (p.His98_Val99delinsLeu) deletion HEMOGLOBIN GALICIA [RCV000016737] Chr11:5226597..5226599 [GRCh38]
Chr11:5247827..5247829 [GRCh37]
Chr11:11p15.4
other
HBB, IVS1, T-A, +2 single nucleotide variant beta^0^ Thalassemia [RCV000016739] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.380T>G (p.Val127Gly) single nucleotide variant Beta thalassemia intermedia [RCV001260263]|Beta-thalassemia HBB/LCRB [RCV005430465]|Hemoglobinopathy [RCV000016741]|beta Thalassemia [RCV000674175]|not provided [RCV000756239] Chr11:5225662 [GRCh38]
Chr11:5246892 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.359G>C (p.Gly120Ala) single nucleotide variant HEMOGLOBIN IOWA [RCV000016743] Chr11:5225683 [GRCh38]
Chr11:5246913 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.343C>A (p.Leu115Met) single nucleotide variant HEMOGLOBIN ZENGCHENG [RCV000016745] Chr11:5225699 [GRCh38]
Chr11:5246929 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) single nucleotide variant Beta-plus-thalassemia [RCV000016747]|HEMOGLOBIN TERRE HAUTE [RCV000016746] Chr11:5225722 [GRCh38]
Chr11:5246952 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.*111A>G single nucleotide variant Beta-plus-thalassemia [RCV000016748]|Beta-thalassemia HBB/LCRB [RCV004566750]|Hemoglobinopathy [RCV001193152]|beta Thalassemia [RCV000445654]|not provided [RCV000506983] Chr11:5225487 [GRCh38]
Chr11:5246717 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) single nucleotide variant Dominant beta-thalassemia [RCV002504798]|HEMOGLOBIN VALLETTA [RCV000016749]|beta Thalassemia [RCV000029973]|not specified [RCV000508492] Chr11:5226630 [GRCh38]
Chr11:5247860 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance|other
NM_000518.4(HBB):c.86T>G (p.Leu29Arg) single nucleotide variant HEMOGLOBIN CHESTERFIELD [RCV000016751] Chr11:5226936 [GRCh38]
Chr11:5248166 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.-82C>A single nucleotide variant Beta-plus-thalassemia [RCV000016752]|beta Thalassemia [RCV001078344]|not specified [RCV003155028] Chr11:5227103 [GRCh38]
Chr11:5248333 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.4(HBB):c.263C>T (p.Thr88Ile) single nucleotide variant not provided [RCV005229806]|not specified [RCV000016753] Chr11:5226629 [GRCh38]
Chr11:5247859 [GRCh37]
Chr11:11p15.4
likely pathogenic|benign|other
NM_000518.4(HBB):c.277C>A (p.His93Asn) single nucleotide variant Hemoglobinopathy [RCV000016756] Chr11:5226615 [GRCh38]
Chr11:5247845 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.441C>A (p.His147Gln) single nucleotide variant HEMOGLOBIN KODAIRA [RCV000016760] Chr11:5225601 [GRCh38]
Chr11:5246831 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.221_227delinsCTCGGTGCCA (p.Asp74_Leu76delinsAlaArgCysGln) indel HEMOGLOBIN MONTREAL [RCV000016761] Chr11:5226665..5226671 [GRCh38]
Chr11:5247895..5247901 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.52A>C (p.Lys18Gln) single nucleotide variant HEMOGLOBIN NIKOSIA [RCV000016762] Chr11:5226970 [GRCh38]
Chr11:5248200 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.365A>G (p.Glu122Gly) single nucleotide variant HEMOGLOBIN ST. FRANCIS [RCV000016763]|not specified [RCV005417432] Chr11:5225677 [GRCh38]
Chr11:5246907 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.338G>A (p.Cys113Tyr) single nucleotide variant HEMOGLOBIN YAHATA [RCV000016764] Chr11:5225704 [GRCh38]
Chr11:5246934 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.430C>G (p.His144Asp) single nucleotide variant HEMOGLOBIN RANCHO MIRAGE [RCV000016765] Chr11:5225612 [GRCh38]
Chr11:5246842 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) single nucleotide variant Beta zero thalassemia [RCV000016766]|beta Thalassemia [RCV001078368]|not provided [RCV003556031] Chr11:5226621 [GRCh38]
Chr11:5247851 [GRCh37]
Chr11:11p15.4
pathogenic
HBB, IVS2AS, -3, C-G single nucleotide variant beta0^ Thalassemia [RCV000016767]|beta^0^ Thalassemia [RCV000016767] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.*110_*114del deletion Beta-plus-thalassemia [RCV000016768]|beta Thalassemia [RCV001078299]|not provided [RCV004998093] Chr11:5225484..5225488 [GRCh38]
Chr11:5246714..5246718 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
HBB, IVS1AS, G-C, -1 single nucleotide variant beta^0^ Thalassemia [RCV000016769] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.4del (p.Val2fs) deletion Beta zero thalassemia [RCV000016770]|beta Thalassemia [RCV001078428] Chr11:5227018 [GRCh38]
Chr11:5248248 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.94C>G (p.Leu32Val) single nucleotide variant HEMOGLOBIN MUSCAT [RCV000016771] Chr11:5226798 [GRCh38]
Chr11:5248028 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.146T>C (p.Leu49Pro) single nucleotide variant HEMOGLOBIN BAB-SAADOUN [RCV000016772] Chr11:5226746 [GRCh38]
Chr11:5247976 [GRCh37]
Chr11:11p15.4
other
HBB, 1-BP DEL, -G, CODON 109 deletion HEMOGLOBIN MANHATTAN [RCV000016773] Chr11:11p15.5 other
NM_000518.5(HBB):c.316-1G>C single nucleotide variant Beta zero thalassemia [RCV000016774]|beta Thalassemia [RCV001078268]|not provided [RCV001800306] Chr11:5225727 [GRCh38]
Chr11:5246957 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-140C>T single nucleotide variant Beta thalassemia intermedia [RCV000202364]|Beta-plus-thalassemia [RCV000016778]|Beta-thalassemia HBB/LCRB [RCV002288506]|Dominant beta-thalassemia [RCV005049376]|HBB-related disorder [RCV002260510]|beta Thalassemia [RCV000029954]|not provided [RCV001069376] Chr11:5227161 [GRCh38]
Chr11:5248391 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000518.5(HBB):c.315+4_315+5del deletion Beta-thalassemia intermedia, dominant [RCV000016779]|beta Thalassemia [RCV001078289] Chr11:5226572..5226573 [GRCh38]
Chr11:5247802..5247803 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.8A>T (p.His3Leu) single nucleotide variant HEMOGLOBIN GRAZ [RCV000016782] Chr11:5227014 [GRCh38]
Chr11:5248244 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.3G>A (p.Met1Ile) single nucleotide variant Beta zero thalassemia [RCV000016783]|Dominant beta-thalassemia [RCV002222353]|beta Thalassemia [RCV001078376]|not provided [RCV000508308]|not specified [RCV000506641] Chr11:5227019 [GRCh38]
Chr11:5248249 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.64G>C (p.Asp22His) single nucleotide variant HEMOGLOBIN KARLSKOGA [RCV000016784] Chr11:5226958 [GRCh38]
Chr11:5248188 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.250G>C (p.Gly84Arg) single nucleotide variant HEMOGLOBIN MUSKEGON [RCV000016785]|not provided [RCV001283988] Chr11:5226642 [GRCh38]
Chr11:5247872 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.238G>C (p.Asp80His) single nucleotide variant HEMOGLOBIN TIGRAYE [RCV000016786]|not specified [RCV001001454] Chr11:5226654 [GRCh38]
Chr11:5247884 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.395A>G (p.Gln132Arg) single nucleotide variant HEMOGLOBIN SARREBOURG [RCV000016787] Chr11:5225647 [GRCh38]
Chr11:5246877 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.310T>A (p.Phe104Ile) single nucleotide variant HEMOGLOBIN SAINT NAZAIRE [RCV000016788] Chr11:5226582 [GRCh38]
Chr11:5247812 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) single nucleotide variant Hb camperdown [RCV000016789]|not provided [RCV004998094]|not specified [RCV005406747] Chr11:5226577 [GRCh38]
Chr11:5247807 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.4(HBB):c.203T>G (p.Val68Gly) single nucleotide variant HEMOGLOBIN MANUKAU [RCV000016792]|not provided [RCV002466407] Chr11:5226689 [GRCh38]
Chr11:5247919 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.269G>C (p.Ser90Thr) single nucleotide variant HEMOGLOBIN VILLAVERDE [RCV000016793] Chr11:5226623 [GRCh38]
Chr11:5247853 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.112T>G (p.Trp38Gly) single nucleotide variant HEMOGLOBIN HOWICK [RCV000016794]|not provided [RCV004998095] Chr11:5226780 [GRCh38]
Chr11:5248010 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) single nucleotide variant HEMOGLOBIN DENVER [RCV000016795]|not provided [RCV000587370] Chr11:5226767 [GRCh38]
Chr11:5247997 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.407C>A (p.Ala136Asp) single nucleotide variant HEMOGLOBIN BECKMAN [RCV000016796] Chr11:5225635 [GRCh38]
Chr11:5246865 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) microsatellite Beta-thalassemia HBB/LCRB [RCV004786267]|HEMOGLOBIN KOREA [RCV000016797] Chr11:5226788..5226790 [GRCh38]
Chr11:5248018..5248020 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.365A>C (p.Glu122Ala) single nucleotide variant HEMOGLOBIN D (NEATH) [RCV000016799] Chr11:5225677 [GRCh38]
Chr11:5246907 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.34G>T (p.Val12Phe) single nucleotide variant HEMOGLOBIN WASHTENAW [RCV000016800]|not provided [RCV000759071] Chr11:5226988 [GRCh38]
Chr11:5248218 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) single nucleotide variant HEMOGLOBIN DIEPPE [RCV000016802]|beta Thalassemia [RCV001078371] Chr11:5225659 [GRCh38]
Chr11:5246889 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.74GTG[1] (p.Gly26del) microsatellite HEMOGLOBIN HIGASHITOCHIGI [RCV000016803]|HEMOGLOBIN HT [RCV000016804] Chr11:5226943..5226945 [GRCh38]
Chr11:5248173..5248175 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.62T>A (p.Val21Glu) single nucleotide variant HEMOGLOBIN TROLLHAETTAN [RCV000016805] Chr11:5226960 [GRCh38]
Chr11:5248190 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) single nucleotide variant HEMOGLOBIN TYNE [RCV000016806]|beta Thalassemia [RCV001826470]|not provided [RCV000756240]|not specified [RCV002271370] Chr11:5227006 [GRCh38]
Chr11:5248236 [GRCh37]
Chr11:11p15.4
uncertain significance|other
HBB, IVS2AS, G-A, -1 single nucleotide variant beta^0^ Thalassemia [RCV000016809] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.95T>G (p.Leu32Arg) single nucleotide variant HEMOGLOBIN HAKKARI [RCV000016810] Chr11:5226797 [GRCh38]
Chr11:5248027 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.422C>T (p.Ala141Val) single nucleotide variant HEMOGLOBIN PUTTELANGE [RCV000016811]|Hemoglobinopathy [RCV003234910] Chr11:5225620 [GRCh38]
Chr11:5246850 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.137T>G (p.Phe46Cys) single nucleotide variant Dominant beta-thalassemia [RCV005049377]|HEMOGLOBIN ARTA [RCV000016812] Chr11:5226755 [GRCh38]
Chr11:5247985 [GRCh37]
Chr11:11p15.4
likely pathogenic|other
NM_000518.4(HBB):c.418A>T (p.Asn140Tyr) single nucleotide variant HEMOGLOBIN AURORA [RCV000016813] Chr11:5225624 [GRCh38]
Chr11:5246854 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.26A>T (p.Lys9Met) single nucleotide variant HEMOGLOBIN NAKANO [RCV000016814] Chr11:5226996 [GRCh38]
Chr11:5248226 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.116C>A (p.Thr39Asn) single nucleotide variant HEMOGLOBIN HINWIL [RCV000016815]|not provided [RCV004767009] Chr11:5226776 [GRCh38]
Chr11:5248006 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.117_118del (p.Gln40fs) deletion beta Thalassemia [RCV000016817] Chr11:5226774..5226775 [GRCh38]
Chr11:5248004..5248005 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.247A>C (p.Lys83Gln) single nucleotide variant HEMOGLOBIN TSURUMAI [RCV000016818] Chr11:5226645 [GRCh38]
Chr11:5247875 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.80A>G (p.Glu27Gly) single nucleotide variant Hb aubenas [RCV000016820] Chr11:5226942 [GRCh38]
Chr11:5248172 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.93-1_94dup duplication Beta-thalassemia dominant [RCV000016821] Chr11:5226797..5226798 [GRCh38]
Chr11:5248027..5248028 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.233A>G (p.His78Arg) single nucleotide variant HEMOGLOBIN COSTA RICA [RCV000016822] Chr11:5226659 [GRCh38]
Chr11:5247889 [GRCh37]
Chr11:11p15.4
other
HBB, 1-BP INS, CODON 20/21, FS insertion Beta-thalassemia, Ashkenazi Jewish type [RCV000016823] Chr11:11p15.5 pathogenic
NM_000518.5(HBB):c.4G>T (p.Val2Leu) single nucleotide variant Dominant beta-thalassemia [RCV005049378]|Hb niigata [RCV000016824] Chr11:5227018 [GRCh38]
Chr11:5248248 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.4(HBB):c.158A>G (p.Asp53Gly) single nucleotide variant HEMOGLOBIN HOKUSETSU [RCV000016825] Chr11:5226734 [GRCh38]
Chr11:5247964 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs) indel Beta zero thalassemia [RCV000016826]|beta Thalassemia [RCV001078313] Chr11:5226671..5226675 [GRCh38]
Chr11:5247901..5247905 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.247A>G (p.Lys83Glu) single nucleotide variant Hb gambara [RCV000016827] Chr11:5226645 [GRCh38]
Chr11:5247875 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.93-2A>G single nucleotide variant Beta zero thalassemia [RCV000016828]|beta Thalassemia [RCV000988481]|not provided [RCV003476900] Chr11:5226801 [GRCh38]
Chr11:5248031 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.79_80insT (p.Glu27fs) insertion Beta zero thalassemia [RCV000016829]|beta Thalassemia [RCV001078437] Chr11:5226942..5226943 [GRCh38]
Chr11:5248172..5248173 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.430C>T (p.His144Tyr) single nucleotide variant not provided [RCV001811165]|not specified [RCV000016831] Chr11:5225612 [GRCh38]
Chr11:5246842 [GRCh37]
Chr11:11p15.4
benign|likely benign|other
NM_000518.5(HBB):c.100G>A (p.Val34Met) single nucleotide variant HEMOGLOBIN RIO CLARO [RCV000016833]|not specified [RCV000781454] Chr11:5226792 [GRCh38]
Chr11:5248022 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.415_417del (p.Ala139del) deletion HEMOGLOBIN NIJKERK [RCV000016834]|not provided [RCV000132763] Chr11:5225625..5225627 [GRCh38]
Chr11:5246855..5246857 [GRCh37]
Chr11:11p15.4
other|not provided
NM_000518.5(HBB):c.85C>A (p.Leu29Met) single nucleotide variant HEMOGLOBIN CHILE [RCV000016835] Chr11:5226937 [GRCh38]
Chr11:5248167 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) single nucleotide variant HEMOGLOBIN TENDE [RCV000016836]|not provided [RCV000759073]|not specified [RCV001000143] Chr11:5225668 [GRCh38]
Chr11:5246898 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.245T>A (p.Leu82His) single nucleotide variant HEMOGLOBIN LA ROCHE-SUR-YON [RCV000016837] Chr11:5226647 [GRCh38]
Chr11:5247877 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.32C>T (p.Ala11Val) single nucleotide variant HEMOGLOBIN IRAQ-HALABJA [RCV000016838] Chr11:5226990 [GRCh38]
Chr11:5248220 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.26A>G (p.Lys9Arg) single nucleotide variant HEMOGLOBIN LUCKNOW [RCV000016839] Chr11:5226996 [GRCh38]
Chr11:5248226 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.356T>G (p.Phe119Cys) single nucleotide variant HEMOGLOBIN HARROW [RCV000016841] Chr11:5225686 [GRCh38]
Chr11:5246916 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.109C>G (p.Pro37Ala) single nucleotide variant HEMOGLOBIN BRIE COMTE ROBERT [RCV000016842] Chr11:5226783 [GRCh38]
Chr11:5248013 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.434A>T (p.Lys145Met) single nucleotide variant HEMOGLOBIN BARBIZON [RCV000016843] Chr11:5225608 [GRCh38]
Chr11:5246838 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.439C>T (p.His147Tyr) single nucleotide variant HEMOGLOBIN BOLOGNA-ST. ORSOLA [RCV000016844] Chr11:5225603 [GRCh38]
Chr11:5246833 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.110C>A (p.Pro37His) single nucleotide variant Erythrocytosis, familial, 6 [RCV001029750]|HEMOGLOBIN VILA REAL [RCV000016845]|Hypertrophic cardiomyopathy 26 [RCV003886362] Chr11:5226782 [GRCh38]
Chr11:5248012 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance|other
NM_000518.5(HBB):c.367T>C (p.Phe123Leu) single nucleotide variant HEMOGLOBIN BUSHEY [RCV000016847] Chr11:5225675 [GRCh38]
Chr11:5246905 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.349C>T (p.His117Tyr) single nucleotide variant HEMOGLOBIN TSUKUMI [RCV000016849] Chr11:5225693 [GRCh38]
Chr11:5246923 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.386C>T (p.Ala129Val) single nucleotide variant HEMOGLOBIN SITIA [RCV000016850]|not specified [RCV003230367] Chr11:5225656 [GRCh38]
Chr11:5246886 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) single nucleotide variant Dominant beta-thalassemia [RCV002482877]|HEMOGLOBIN ERNZ [RCV000016851]|beta Thalassemia [RCV001563767]|not specified [RCV001778656] Chr11:5225671 [GRCh38]
Chr11:5246901 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.-151C>G single nucleotide variant Beta-plus-thalassemia [RCV000016853]|Dominant beta-thalassemia [RCV005049379] Chr11:5227172 [GRCh38]
Chr11:5248402 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.5T>G (p.Val2Gly) single nucleotide variant HEMOGLOBIN WATFORD [RCV000016854] Chr11:5227017 [GRCh38]
Chr11:5248247 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.404T>C (p.Val135Ala) single nucleotide variant HEMOGLOBIN YAOUNDE [RCV000016855]|beta Thalassemia [RCV001835629]|not provided [RCV000588829]|not specified [RCV000855596] Chr11:5225638 [GRCh38]
Chr11:5246868 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.4(HBB):c.385G>C (p.Ala129Pro) single nucleotide variant HEMOGLOBIN MONT SAINT-AIGNAN [RCV000016856] Chr11:5225657 [GRCh38]
Chr11:5246887 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.17del (p.Pro6fs) deletion HEMOGLOBIN ANTALYA [RCV000016859] Chr11:5227005 [GRCh38]
Chr11:5248235 [GRCh37]
Chr11:11p15.4
other
chr11:g.(LOH11A_HBB)del deletion Thalassemia intermedia [RCV000016861] Chr11:11p15.4 pathogenic
NM_000518.4(HBB):c.338G>T (p.Cys113Phe) single nucleotide variant HEMOGLOBIN CANTERBURY [RCV000016862] Chr11:5225704 [GRCh38]
Chr11:5246934 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.125T>G (p.Phe42Cys) single nucleotide variant HEMOGLOBIN ILMENAU [RCV000016865] Chr11:5226767 [GRCh38]
Chr11:5247997 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) single nucleotide variant HEMOGLOBIN AUBAGNE [RCV000016866]|not provided [RCV001811166] Chr11:5226698 [GRCh38]
Chr11:5247928 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.340del (p.Val114fs) deletion Dominant beta-thalassemia [RCV001731306] Chr11:5225702 [GRCh38]
Chr11:5246932 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.441C>G (p.His147Gln) single nucleotide variant HEMOGLOBIN KODAIRA II [RCV000016868] Chr11:5225601 [GRCh38]
Chr11:5246831 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) single nucleotide variant HEMOGLOBIN COLIMA [RCV000016869]|not provided [RCV003476901] Chr11:5226743 [GRCh38]
Chr11:5247973 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.4(HBB):c.184A>C (p.Lys62Gln) single nucleotide variant HEMOGLOBIN POCOS DE CALDAS [RCV000016870] Chr11:5226708 [GRCh38]
Chr11:5247938 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.434del (p.Lys145fs) deletion HEMOGLOBIN TRENTO [RCV000016871] Chr11:5225608 [GRCh38]
Chr11:5246838 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.104T>A (p.Val35Asp) single nucleotide variant HEMOGLOBIN SANTANDER [RCV000016872] Chr11:5226788 [GRCh38]
Chr11:5248018 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.415G>A (p.Ala139Thr) single nucleotide variant HEMOGLOBIN BUZEN [RCV000016873] Chr11:5225627 [GRCh38]
Chr11:5246857 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.292C>A (p.His98Asn) single nucleotide variant HEMOGLOBIN SANTA CLARA [RCV000016874] Chr11:5226600 [GRCh38]
Chr11:5247830 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.310T>G (p.Phe104Val) single nucleotide variant HEMOGLOBIN SPARTA [RCV000016875] Chr11:5226582 [GRCh38]
Chr11:5247812 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) indel Beta-thalassemia, dominant inclusion body type [RCV000016876] Chr11:5225654..5225657 [GRCh38]
Chr11:5246884..5246887 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.259G>C (p.Ala87Pro) single nucleotide variant HEMOGLOBIN CARDARELLI [RCV000016878] Chr11:5226633 [GRCh38]
Chr11:5247863 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) single nucleotide variant Dominant beta-thalassemia [RCV002482878]|HEMOGLOBIN ROCKFORD [RCV000016880]|not provided [RCV001811167] Chr11:5226687 [GRCh38]
Chr11:5247917 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.4(HBB):c.80A>C (p.Glu27Ala) single nucleotide variant HEMOGLOBIN TRIPOLI [RCV000016881] Chr11:5226942 [GRCh38]
Chr11:5248172 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.88G>A (p.Gly30Ser) single nucleotide variant HEMOGLOBIN TIZI-OUZOU [RCV000016882] Chr11:5226934 [GRCh38]
Chr11:5248164 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.*110T>A single nucleotide variant Beta-plus-thalassemia [RCV000016883] Chr11:5225488 [GRCh38]
Chr11:5246718 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.71T>C (p.Val24Ala) single nucleotide variant HEMOGLOBIN ZOETERWOUDE [RCV000016885] Chr11:5226951 [GRCh38]
Chr11:5248181 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.29C>A (p.Ser10Tyr) single nucleotide variant HEMOGLOBIN BREM-SUR-MER [RCV000016886] Chr11:5226993 [GRCh38]
Chr11:5248223 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.283G>T (p.Asp95Tyr) single nucleotide variant HEMOGLOBIN GELDROP ST. ANNA [RCV000016887] Chr11:5226609 [GRCh38]
Chr11:5247839 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.212C>T (p.Ala71Val) single nucleotide variant HEMOGLOBIN MARINEO [RCV000016888] Chr11:5226680 [GRCh38]
Chr11:5247910 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.116C>T (p.Thr39Ile) single nucleotide variant HEMOGLOBIN LA CORUNA [RCV000016889] Chr11:5226776 [GRCh38]
Chr11:5248006 [GRCh37]
Chr11:11p15.4
other
NC_000011.9:g.(?_5246695)_(5255713_?)del deletion Hemoglobinopathy [RCV001290524] Chr11:5246695..5255713 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.9T>C (p.His3=) single nucleotide variant Dominant beta-thalassemia [RCV002505244]|Fetal hemoglobin quantitative trait locus 1 [RCV000271089]|Hb SS disease [RCV000362141]|Hemoglobin E [RCV001104360]|Inborn genetic diseases [RCV002381565]|beta Thalassemia [RCV000328523]|not provided [RCV001513849]|not specified [RCV000173144] Chr11:5227013 [GRCh38]
Chr11:5248243 [GRCh37]
Chr11:11p15.4
benign
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_000518.5(HBB):c.185A>T (p.Lys62Met) single nucleotide variant HEMOGLOBIN BOLOGNA [RCV000016269] Chr11:5226707 [GRCh38]
Chr11:5247937 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.322G>C (p.Gly108Arg) single nucleotide variant HEMOGLOBIN BURKE [RCV000016282] Chr11:5225720 [GRCh38]
Chr11:5246950 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.284A>G (p.Asp95Gly) single nucleotide variant HEMOGLOBIN CHANDIGARH [RCV000016296] Chr11:5226608 [GRCh38]
Chr11:5247838 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.215T>C (p.Phe72Ser) single nucleotide variant HEMOGLOBIN CHRISTCHURCH [RCV000016300] Chr11:5226677 [GRCh38]
Chr11:5247907 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.65A>G (p.Asp22Gly) single nucleotide variant HEMOGLOBIN CONNECTICUT [RCV000016305] Chr11:5226957 [GRCh38]
Chr11:5248187 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.187G>C (p.Ala63Pro) single nucleotide variant HEMOGLOBIN DUARTE [RCV000016328] Chr11:5226705 [GRCh38]
Chr11:5247935 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.7C>T (p.His3Tyr) single nucleotide variant HEMOGLOBIN FUKUOKA [RCV000016339] Chr11:5227015 [GRCh38]
Chr11:5248245 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) single nucleotide variant HEMOGLOBIN G (GALVESTON) [RCV000016348]|HEMOGLOBIN G (PORT ARTHUR) [RCV000016349]|HEMOGLOBIN G (TEXAS) [RCV000016350]|not provided [RCV002476973]|not specified [RCV000507079] Chr11:5226761 [GRCh38]
Chr11:5247991 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance|other
NM_000518.5(HBB):c.239A>G (p.Asp80Gly) single nucleotide variant HEMOGLOBIN G (HSI-TSOU) [RCV000016351] Chr11:5226653 [GRCh38]
Chr11:5247883 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.351T>R (p.His117Gln) single nucleotide variant HEMOGLOBIN HAFNIA [RCV000016368] Chr11:5225691 [GRCh38]
Chr11:5246921 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641462]|HEMOGLOBIN HEATHROW [RCV000016375] Chr11:5226580 [GRCh38]
Chr11:5247810 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) single nucleotide variant HEMOGLOBIN INDIANAPOLIS [RCV000016392]|Heinz body anemia [RCV000016393] Chr11:5225705 [GRCh38]
Chr11:5246935 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.279C>R (p.His93Gln) single nucleotide variant HEMOGLOBIN SAINT ETIENNE [RCV000016395] Chr11:5226613 [GRCh38]
Chr11:5247843 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) single nucleotide variant not provided [RCV001811154]|not specified [RCV000016405] Chr11:5226722 [GRCh38]
Chr11:5247952 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.196A>C (p.Lys66Gln) single nucleotide variant HEMOGLOBIN J (CAIRO) [RCV000016409] Chr11:5226696 [GRCh38]
Chr11:5247926 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.287A>T (p.Lys96Met) single nucleotide variant HEMOGLOBIN J (CORDOBA) [RCV000016414] Chr11:5226605 [GRCh38]
Chr11:5247835 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.172A>G (p.Asn58Asp) single nucleotide variant HEMOGLOBIN J (DALOA) [RCV000016415] Chr11:5226720 [GRCh38]
Chr11:5247950 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) single nucleotide variant not provided [RCV001284633]|not specified [RCV000016418] Chr11:5226713 [GRCh38]
Chr11:5247943 [GRCh37]
Chr11:11p15.4
pathogenic|benign|uncertain significance|other
NM_000518.5(HBB):c.41C>A (p.Ala14Asp) single nucleotide variant HEMOGLOBIN J (LENS) [RCV000016420] Chr11:5226981 [GRCh38]
Chr11:5248211 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.362A>T (p.Lys121Ile) single nucleotide variant HEMOGLOBIN JIANGHUA [RCV000016427] Chr11:5225680 [GRCh38]
Chr11:5246910 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) single nucleotide variant HEMOGLOBIN K (IBADAN) [RCV000016430]|not provided [RCV001811156] Chr11:5226752 [GRCh38]
Chr11:5247982 [GRCh37]
Chr11:11p15.4
likely benign|other
NM_000518.5(HBB):c.254C>T (p.Thr85Ile) single nucleotide variant HEMOGLOBIN KOFU [RCV000016442] Chr11:5226638 [GRCh38]
Chr11:5247868 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.346G>C (p.Ala116Pro) single nucleotide variant Dominant beta-thalassemia [RCV005417431]|HEMOGLOBIN MADRID [RCV000016478] Chr11:5225696 [GRCh38]
Chr11:5246926 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.294C>R (p.His98Gln) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641527]|HEMOGLOBIN MALMO [RCV000016482] Chr11:5226598 [GRCh38]
Chr11:5247828 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.167T>A (p.Met56Lys) single nucleotide variant HEMOGLOBIN MATERA [RCV000016487] Chr11:5226725 [GRCh38]
Chr11:5247955 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) single nucleotide variant not provided [RCV001811158]|not specified [RCV000016491] Chr11:5226758 [GRCh38]
Chr11:5247988 [GRCh37]
Chr11:11p15.4
pathogenic|benign|uncertain significance|other
NM_000518.5(HBB):c.425T>G (p.Leu142Arg) single nucleotide variant HEMOGLOBIN OLMSTED [RCV000016531]|not provided [RCV003476896] Chr11:5225617 [GRCh38]
Chr11:5246847 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.260C>A (p.Ala87Asp) single nucleotide variant HEMOGLOBIN OLOMOUC [RCV000016532] Chr11:5226632 [GRCh38]
Chr11:5247862 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.61G>A (p.Val21Met) single nucleotide variant Dominant beta-thalassemia [RCV005003360]|Erythrocytosis, familial, 6 [RCV000641556]|HEMOGLOBIN OLYMPIA [RCV000016533]|Hemoglobinopathy [RCV004799743]|not provided [RCV000759801] Chr11:5226961 [GRCh38]
Chr11:5248191 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|other
NM_000518.5(HBB):c.107A>T (p.Tyr36Phe) single nucleotide variant HEMOGLOBIN PHILLY [RCV000016550] Chr11:5226785 [GRCh38]
Chr11:5248015 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.236T>G (p.Leu79Arg) single nucleotide variant HEMOGLOBIN QUIN-HAI [RCV000016554] Chr11:5226656 [GRCh38]
Chr11:5247886 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.327C>R (p.Asn109Lys) single nucleotide variant HEMOGLOBIN PRESBYTERIAN [RCV000016558] Chr11:5225715 [GRCh38]
Chr11:5246945 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641598]|HEMOGLOBIN RAINIER [RCV000016562]|not provided [RCV001284491] Chr11:5225605 [GRCh38]
Chr11:5246835 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.289C>G (p.Leu97Val) single nucleotide variant HEMOGLOBIN REGINA [RCV000016565] Chr11:5226603 [GRCh38]
Chr11:5247833 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.272A>G (p.Glu91Gly) single nucleotide variant HEMOGLOBIN ROSEAU-POINTE A PITRE [RCV000016570] Chr11:5226620 [GRCh38]
Chr11:5247850 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) single nucleotide variant Erythrocytosis, familial, 6 [RCV000641604]|HEMOGLOBIN SAINT JACQUES [RCV000016582] Chr11:5225621 [GRCh38]
Chr11:5246851 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.335T>C (p.Val112Ala) single nucleotide variant HEMOGLOBIN STANMORE [RCV000016607] Chr11:5225707 [GRCh38]
Chr11:5246937 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.119A>G (p.Gln40Arg) single nucleotide variant HEMOGLOBIN TIANSHUI [RCV000016624] Chr11:5226773 [GRCh38]
Chr11:5248003 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.373C>T (p.Pro125Ser) single nucleotide variant Dominant beta-thalassemia [RCV005049355]|HEMOGLOBIN TUNIS [RCV000016631] Chr11:5225669 [GRCh38]
Chr11:5246899 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.17C>G (p.Pro6Arg) single nucleotide variant HEMOGLOBIN WARWICKSHIRE [RCV000016640] Chr11:5227005 [GRCh38]
Chr11:5248235 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.391T>G (p.Tyr131Asp) single nucleotide variant HEMOGLOBIN WIEN [RCV000016641] Chr11:5225651 [GRCh38]
Chr11:5246881 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.35T>A (p.Val12Asp) single nucleotide variant HEMOGLOBIN WINDSOR [RCV000016642] Chr11:5226987 [GRCh38]
Chr11:5248217 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.399A>Y (p.Lys133Asn) single nucleotide variant HEMOGLOBIN YAMAGATA [RCV000016645] Chr11:5225643 [GRCh38]
Chr11:5246873 [GRCh37]
Chr11:11p15.4
other
NM_000518.4(HBB):c.321_322insG (p.Asn109Glnfs) insertion beta0^ Thalassemia [RCV000016668]|beta^0^ Thalassemia [RCV000016668] Chr11:5225721 [GRCh38]
Chr11:5246951 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.217dup (p.Ser73fs) duplication Beta zero thalassemia [RCV000016675]|Beta-thalassemia HBB/LCRB [RCV004795420]|Dominant beta-thalassemia [RCV005049361]|Inborn genetic diseases [RCV002426508]|beta Thalassemia [RCV000576855]|not provided [RCV000507557] Chr11:5226674..5226675 [GRCh38]
Chr11:5247904..5247905 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.45dup (p.Trp16fs) duplication Beta zero thalassemia [RCV000016683]|Hemoglobinopathy [RCV000780312]|beta Thalassemia [RCV001078383]|not provided [RCV003556029] Chr11:5226976..5226977 [GRCh38]
Chr11:5248206..5248207 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.85dup (p.Leu29fs) duplication Beta zero thalassemia [RCV000016689]|Dominant beta-thalassemia [RCV005049362]|Hb SS disease [RCV001004352]|Hemoglobinopathy [RCV000780308]|beta Thalassemia [RCV000169441]|not provided [RCV000508423] Chr11:5226936..5226937 [GRCh38]
Chr11:5248166..5248167 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.229G>C (p.Ala77Pro) single nucleotide variant HEMOGLOBIN CALAIS [RCV000016740] Chr11:5226663 [GRCh38]
Chr11:5247893 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.143dup (p.Asp48fs) duplication beta Thalassemia [RCV000016744]|not provided [RCV000505977] Chr11:5226748..5226749 [GRCh38]
Chr11:5247978..5247979 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.164T>A (p.Val55Asp) single nucleotide variant HEMOGLOBIN JACKSONVILLE [RCV000016750] Chr11:5226728 [GRCh38]
Chr11:5247958 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.300T>R (p.Asp100Glu) single nucleotide variant HEMOGLOBIN COIMBRA [RCV000016757] Chr11:5226592 [GRCh38]
Chr11:5247822 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.55G>A (p.Val19Met) single nucleotide variant HEMOGLOBIN BADEN [RCV000016781] Chr11:5226967 [GRCh38]
Chr11:5248197 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.347C>A (p.Ala116Asp) single nucleotide variant Dominant beta-thalassemia [RCV005417433]|Hemoglobinopathy [RCV000016791]|not provided [RCV002284172] Chr11:5225695 [GRCh38]
Chr11:5246925 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.5(HBB):c.290T>C (p.Leu97Pro) single nucleotide variant HEMOGLOBIN DEBROUSSE [RCV000016816] Chr11:5226602 [GRCh38]
Chr11:5247832 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.188C>A (p.Ala63Asp) single nucleotide variant HEMOGLOBIN J (EUROPA) [RCV000016819] Chr11:5226704 [GRCh38]
Chr11:5247934 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.396G>C (p.Gln132His) single nucleotide variant HEMOGLOBIN SILVER SPRINGS [RCV000016830] Chr11:5225646 [GRCh38]
Chr11:5246876 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.419A>C (p.Asn140Thr) single nucleotide variant HEMOGLOBIN SAGAMI [RCV000016840]|not provided [RCV004998097] Chr11:5225623 [GRCh38]
Chr11:5246853 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) single nucleotide variant HEMOGLOBIN SAALE [RCV000016846]|not provided [RCV000759063] Chr11:5226639 [GRCh38]
Chr11:5247869 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.401T>C (p.Val134Ala) single nucleotide variant HEMOGLOBIN RENERT [RCV000016852] Chr11:5225641 [GRCh38]
Chr11:5246871 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.409G>C (p.Gly137Arg) single nucleotide variant HEMOGLOBIN 'T LANGE LAND [RCV000016857] Chr11:5225633 [GRCh38]
Chr11:5246863 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.27G>C (p.Lys9Asn) single nucleotide variant HEMOGLOBIN LIMASSOL [RCV000016860] Chr11:5226995 [GRCh38]
Chr11:5248225 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.379G>C (p.Val127Leu) single nucleotide variant HEMOGLOBIN MOLFETTA [RCV000016864] Chr11:5225663 [GRCh38]
Chr11:5246893 [GRCh37]
Chr11:11p15.4
other
GRCh37/hg19 11p15.4(chr11:5198944-5255663)x1 copy number loss not provided [RCV002292847] Chr11:5198944..5255663 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.139G>C (p.Gly47Arg) single nucleotide variant not provided [RCV001284627] Chr11:5226753 [GRCh38]
Chr11:5247983 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) single nucleotide variant not provided [RCV001811076] Chr11:5226794 [GRCh38]
Chr11:5248024 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.-25T>C single nucleotide variant beta Thalassemia [RCV000256387] Chr11:5227046 [GRCh38]
Chr11:5248276 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5226638_5234052del deletion Hemoglobin Lepore trait [RCV000016207] Chr11:5226634..5234048 [GRCh38]
Chr11:5247864..5255278 [GRCh37]
Chr11:11p15.4
pathogenic|other
NC_000011.10:g.5226570_5233984del deletion Anemia [RCV000415449]|Hemoglobin Lepore trait [RCV000016208]|alpha Thalassemia [RCV001196231] Chr11:5226570..5233984 [GRCh38]
Chr11:5247800..5255214 [GRCh37]
Chr11:11p15.4
pathogenic|other
NM_000518.4(HBB):c.-7305_92+16del deletion Hemoglobin Lepore trait [RCV000016213] Chr11:5226914..5234326 [GRCh38]
Chr11:5248144..5255556 [GRCh37]
Chr11:11p15.4
pathogenic|other
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.315+1G>C single nucleotide variant beta Thalassemia [RCV000169544]|not provided [RCV001850405] Chr11:5226576 [GRCh38]
Chr11:5247806 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
GRCh37/hg19 11p15.4(chr11:5248267-5255227)x4 copy number gain See cases [RCV000240152] Chr11:5248267..5255227 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.219_220del (p.Ser73fs) deletion not provided [RCV000756235] Chr11:5226672..5226673 [GRCh38]
Chr11:5247902..5247903 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.155del (p.Pro52fs) deletion Hemoglobinopathy [RCV001193151]|beta Thalassemia [RCV001078413]|not provided [RCV001269808] Chr11:5226737 [GRCh38]
Chr11:5247967 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) single nucleotide variant not provided [RCV000757358] Chr11:5226643 [GRCh38]
Chr11:5247873 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.158A>T (p.Asp53Val) single nucleotide variant not provided [RCV000757366] Chr11:5226734 [GRCh38]
Chr11:5247964 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-50_92del (p.Met1fs) deletion not provided [RCV001284497] Chr11:5226930..5227071 [GRCh38]
Chr11:5248160..5248301 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-238C>T single nucleotide variant beta Thalassemia [RCV000625739]|not provided [RCV000864684]|not specified [RCV000248556] Chr11:5225964 [GRCh38]
Chr11:5247194 [GRCh37]
Chr11:11p15.4
pathogenic|likely benign
NM_000518.5(HBB):c.93-15T>C single nucleotide variant not provided [RCV003105837]|not specified [RCV000253363] Chr11:5226814 [GRCh38]
Chr11:5248044 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+16G>C single nucleotide variant beta Thalassemia [RCV000736020]|not provided [RCV001513848]|not specified [RCV000248874] Chr11:5226561 [GRCh38]
Chr11:5247791 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.288G>A (p.Lys96=) single nucleotide variant not provided [RCV000980922]|not specified [RCV000244119] Chr11:5226604 [GRCh38]
Chr11:5247834 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-146T>C single nucleotide variant not provided [RCV002055042]|not specified [RCV000251997] Chr11:5225872 [GRCh38]
Chr11:5247102 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.*353G>A single nucleotide variant not specified [RCV000252325] Chr11:5225245 [GRCh38]
Chr11:5246475 [GRCh37]
Chr11:11p15.4
benign
NM_000518.4(HBB):c.*316A>C single nucleotide variant not provided [RCV001594893]|not specified [RCV000247556] Chr11:5225282 [GRCh38]
Chr11:5246512 [GRCh37]
Chr11:11p15.4
benign
NC_000011.10:g.5225365C>G single nucleotide variant beta Thalassemia [RCV001078283]|not provided [RCV000860791]|not specified [RCV000242777] Chr11:5225365 [GRCh38]
Chr11:5246595 [GRCh37]
Chr11:11p15.4
pathogenic|benign
NC_000011.10:g.5225367A>G single nucleotide variant not provided [RCV001469216]|not specified [RCV000252778] Chr11:5225367 [GRCh38]
Chr11:5246597 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.*56A>T single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV000405739]|Hb SS disease [RCV000337326]|Hemoglobin E [RCV001105806]|beta Thalassemia [RCV000297689] Chr11:5225542 [GRCh38]
Chr11:5246772 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-152C>A single nucleotide variant not specified [RCV002281797] Chr11:5227173 [GRCh38]
Chr11:5248403 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-138G>A single nucleotide variant not provided [RCV000586836]|not specified [RCV005240272] Chr11:5225864 [GRCh38]
Chr11:5247094 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.387T>A (p.Ala129=) single nucleotide variant beta Thalassemia [RCV001279266]|not provided [RCV002542922] Chr11:5225655 [GRCh38]
Chr11:5246885 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.57G>A (p.Val19=) single nucleotide variant not provided [RCV000985754]|not specified [RCV000586045] Chr11:5226965 [GRCh38]
Chr11:5248195 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.-23A>G single nucleotide variant not provided [RCV000586372] Chr11:5227044 [GRCh38]
Chr11:5248274 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del) deletion not provided [RCV001269514] Chr11:5225598..5225726 [GRCh38]
Chr11:5246828..5246956 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.226del (p.Leu76fs) deletion beta Thalassemia [RCV000586222]|not provided [RCV005091541] Chr11:5226666 [GRCh38]
Chr11:5247896 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.*53C>A single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV000404908]|Hb SS disease [RCV000369395]|Hemoglobin E [RCV001106913]|beta Thalassemia [RCV000311091]|not specified [RCV005238876] Chr11:5225545 [GRCh38]
Chr11:5246775 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-83G>T single nucleotide variant not provided [RCV000587061] Chr11:5227104 [GRCh38]
Chr11:5248334 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.270T>C (p.Ser90=) single nucleotide variant not specified [RCV000587305] Chr11:5226622 [GRCh38]
Chr11:5247852 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.4(HBB):c.-102G>T single nucleotide variant not provided [RCV000587333] Chr11:5227123 [GRCh38]
Chr11:5248353 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.144T>C (p.Asp48=) single nucleotide variant not specified [RCV000587742] Chr11:5226748 [GRCh38]
Chr11:5247978 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.327C>T (p.Asn109=) single nucleotide variant beta Thalassemia [RCV001835859]|not provided [RCV000587854]|not specified [RCV001731798] Chr11:5225715 [GRCh38]
Chr11:5246945 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.371_378del (p.Thr124fs) deletion beta Thalassemia [RCV000588177]|not specified [RCV001002371] Chr11:5225664..5225671 [GRCh38]
Chr11:5246894..5246901 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.70G>C (p.Val24Leu) single nucleotide variant not provided [RCV000587770] Chr11:5226952 [GRCh38]
Chr11:5248182 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-109C>T single nucleotide variant not provided [RCV000588296]|not specified [RCV005240269] Chr11:5225835 [GRCh38]
Chr11:5247065 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-128G>C single nucleotide variant not provided [RCV000588496]|not specified [RCV005240271] Chr11:5225854 [GRCh38]
Chr11:5247084 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-189A>G single nucleotide variant not provided [RCV000588558]|not specified [RCV001260259] Chr11:5225915 [GRCh38]
Chr11:5247145 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.141G>A (p.Gly47=) single nucleotide variant not provided [RCV002061974]|not specified [RCV000586008] Chr11:5226751 [GRCh38]
Chr11:5247981 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.-10_-7del deletion beta Thalassemia [RCV001078296]|not provided [RCV000588894]|not specified [RCV005407771] Chr11:5227028..5227031 [GRCh38]
Chr11:5248258..5248261 [GRCh37]
Chr11:11p15.4
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.*56A>G single nucleotide variant not provided [RCV000588701]|not specified [RCV000855595] Chr11:5225542 [GRCh38]
Chr11:5246772 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) single nucleotide variant beta Thalassemia [RCV001272127]|not provided [RCV003478322]|not specified [RCV000586865] Chr11:5226741 [GRCh38]
Chr11:5247971 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-46G>A single nucleotide variant not specified [RCV000587163] Chr11:5225772 [GRCh38]
Chr11:5247002 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-140C>G single nucleotide variant Dominant beta-thalassemia [RCV005049610]|beta Thalassemia [RCV001078396]|not provided [RCV005000361]|not specified [RCV000589253] Chr11:5227161 [GRCh38]
Chr11:5248391 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.56T>G (p.Val19Gly) single nucleotide variant beta Thalassemia [RCV001834854]|not provided [RCV000589269]|not specified [RCV001251065] Chr11:5226966 [GRCh38]
Chr11:5248196 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.93-6C>T single nucleotide variant beta Thalassemia [RCV001834855]|not provided [RCV000588998]|not specified [RCV005407772] Chr11:5226805 [GRCh38]
Chr11:5248035 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.92+4G>A single nucleotide variant not provided [RCV000587266] Chr11:5226926 [GRCh38]
Chr11:5248156 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*102C>T single nucleotide variant not specified [RCV000589709] Chr11:5225496 [GRCh38]
Chr11:5246726 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*62A>G single nucleotide variant Dominant beta-thalassemia [RCV002497234]|not provided [RCV001284487]|not specified [RCV000589760] Chr11:5225536 [GRCh38]
Chr11:5246766 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.6G>A (p.Val2=) single nucleotide variant not provided [RCV002532349]|not specified [RCV000589345] Chr11:5227016 [GRCh38]
Chr11:5248246 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-114C>T single nucleotide variant not provided [RCV000590043]|not specified [RCV005240270] Chr11:5225840 [GRCh38]
Chr11:5247070 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.4(HBB):c.-71G>A single nucleotide variant not provided [RCV000590055] Chr11:5227092 [GRCh38]
Chr11:5248322 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-150T>A single nucleotide variant not specified [RCV004767425] Chr11:5227171 [GRCh38]
Chr11:5248401 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-19T>A single nucleotide variant not provided [RCV000590215]|not specified [RCV001293423] Chr11:5225745 [GRCh38]
Chr11:5246975 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) single nucleotide variant beta Thalassemia [RCV001272125]|not provided [RCV001283986]|not specified [RCV000589565] Chr11:5226669 [GRCh38]
Chr11:5247899 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-45G>C single nucleotide variant not provided [RCV000874734]|not specified [RCV000590432] Chr11:5225771 [GRCh38]
Chr11:5247001 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.-100G>A single nucleotide variant Dominant beta-thalassemia [RCV002483568]|beta Thalassemia [RCV001272131]|not provided [RCV000590577]|not specified [RCV001526852] Chr11:5227121 [GRCh38]
Chr11:5248351 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-130T>C single nucleotide variant not provided [RCV001451826]|not specified [RCV001174623] Chr11:5225856 [GRCh38]
Chr11:5247086 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.129T>C (p.Phe43=) single nucleotide variant not provided [RCV002532348]|not specified [RCV000586495] Chr11:5226763 [GRCh38]
Chr11:5247993 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.*115A>C single nucleotide variant not provided [RCV000586987] Chr11:5225483 [GRCh38]
Chr11:5246713 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-29G>A single nucleotide variant Hemoglobinopathy [RCV000781439]|beta Thalassemia [RCV000445640]|not provided [RCV002522735] Chr11:5227050 [GRCh38]
Chr11:5248280 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_000518.5(HBB):c.*6C>G single nucleotide variant Beta thalassemia intermedia [RCV002265766]|beta Thalassemia [RCV000445641]|not provided [RCV002522737] Chr11:5225592 [GRCh38]
Chr11:5246822 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.-138C>A single nucleotide variant Beta-plus-thalassemia [RCV000016721]|Beta-thalassemia HBB/LCRB [RCV005430536]|Dominant beta-thalassemia [RCV000762846]|Hemoglobinopathy [RCV000781451]|beta Thalassemia [RCV000445645]|not provided [RCV000505872]|not specified [RCV003488595] Chr11:5227159 [GRCh38]
Chr11:5248389 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000518.4:c.91+6T>C single nucleotide variant beta Thalassemia [RCV000445646] Chr11:11p15.4 pathogenic
NM_000518.5(HBB):c.-41del deletion beta Thalassemia [RCV000445647] Chr11:5227062 [GRCh38]
Chr11:5248292 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
c.17delA deletion beta Thalassemia [RCV000445648] Chr11:11p15.4 pathogenic
NM_000518.5(HBB):c.316-7C>G single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430354]|beta Thalassemia [RCV000445651]|not provided [RCV001284152]|not specified [RCV000781440] Chr11:5225733 [GRCh38]
Chr11:5246963 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000518.5(HBB):c.-18C>G single nucleotide variant beta Thalassemia [RCV000445652]|not provided [RCV002522736] Chr11:5227039 [GRCh38]
Chr11:5248269 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.4(chr11:4371631-5253127) copy number gain Abnormal esophagus morphology [RCV000416780] Chr11:4371631..5253127 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-82G>A single nucleotide variant not provided [RCV001810991] Chr11:5225808 [GRCh38]
Chr11:5247038 [GRCh37]
Chr11:11p15.4
benign
NM_000518.4(HBB):c.85dup (p.Leu29Profs) duplication not provided [RCV000508423] Chr11:5226937 [GRCh38]
Chr11:5248167 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.11T>A (p.Leu4Gln) single nucleotide variant not specified [RCV000508469] Chr11:5227011 [GRCh38]
Chr11:5248241 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-125A>G single nucleotide variant HBB-related disorder [RCV004541579]|beta Thalassemia [RCV001078266]|not provided [RCV000508509]|not specified [RCV001281704] Chr11:5225851 [GRCh38]
Chr11:5247081 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.378A>T (p.Pro126=) single nucleotide variant not specified [RCV000508552] Chr11:5225664 [GRCh38]
Chr11:5246894 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) single nucleotide variant Dominant beta-thalassemia [RCV005049397]|beta Thalassemia [RCV000589075]|not provided [RCV000508624] Chr11:5226974 [GRCh38]
Chr11:5248204 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.46del (p.Trp16fs) deletion Beta-thalassemia HBB/LCRB [RCV004689430]|beta Thalassemia [RCV000590721]|not provided [RCV000508660] Chr11:5226976 [GRCh38]
Chr11:5248206 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.45G>A (p.Leu15=) single nucleotide variant Inborn genetic diseases [RCV004023441]|not provided [RCV001415758]|not specified [RCV000508663] Chr11:5226977 [GRCh38]
Chr11:5248207 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
NM_000518.5(HBB):c.246C>A (p.Leu82=) single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001107021]|Hb SS disease [RCV001104261]|Hemoglobin E [RCV001104260]|beta Thalassemia [RCV001104259]|not provided [RCV000759796]|not specified [RCV000505921] Chr11:5226646 [GRCh38]
Chr11:5247876 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.4(HBB):c.143dup (p.Asp48Glufs) duplication not provided [RCV000505977] Chr11:5226749 [GRCh38]
Chr11:5247979 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.253del (p.Thr85fs) deletion not provided [RCV000506042] Chr11:5226639 [GRCh38]
Chr11:5247869 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.294C>T (p.His98=) single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001103971]|Hb SS disease [RCV001104254]|Hemoglobin E [RCV001103972]|Inborn genetic diseases [RCV003159645]|beta Thalassemia [RCV001103970]|not provided [RCV000585933]|not specified [RCV000506063] Chr11:5226598 [GRCh38]
Chr11:5247828 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.92+2T>A single nucleotide variant Beta zero thalassemia [RCV000016739]|Beta-thalassemia HBB/LCRB [RCV005430111]|beta Thalassemia [RCV000665219]|not provided [RCV000506130] Chr11:5226928 [GRCh38]
Chr11:5248158 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.323dup (p.Asn109fs) duplication Beta zero thalassemia [RCV000016668]|Dominant beta-thalassemia [RCV005049576]|beta Thalassemia [RCV000589491]|not provided [RCV000506185] Chr11:5225718..5225719 [GRCh38]
Chr11:5246948..5246949 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.315+74T>G single nucleotide variant beta Thalassemia [RCV001078265]|not provided [RCV000860762] Chr11:5226503 [GRCh38]
Chr11:5247733 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.351T>A (p.His117Gln) single nucleotide variant not specified [RCV000506216] Chr11:5225691 [GRCh38]
Chr11:5246921 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+2T>G single nucleotide variant beta Thalassemia [RCV001078426]|not provided [RCV000506362] Chr11:5226575 [GRCh38]
Chr11:5247805 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.93-1G>C single nucleotide variant Beta zero thalassemia [RCV000016769]|Beta-thalassemia HBB/LCRB [RCV004689769]|Beta-thalassemia major [RCV001375484]|beta Thalassemia [RCV001078336]|not provided [RCV000506434] Chr11:5226800 [GRCh38]
Chr11:5248030 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.33C>A (p.Ala11=) single nucleotide variant HBB-related disorder [RCV004535634]|Inborn genetic diseases [RCV002455977]|beta Thalassemia [RCV001374655]|not provided [RCV000757356] Chr11:5226989 [GRCh38]
Chr11:5248219 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) single nucleotide variant beta Thalassemia [RCV001078348]|not provided [RCV003558431]|not specified [RCV000506586] Chr11:5226779 [GRCh38]
Chr11:5248009 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.207C>T (p.Leu69=) single nucleotide variant HBB-related disorder [RCV004541578]|Inborn genetic diseases [RCV002420277]|not provided [RCV000934466]|not specified [RCV000506621] Chr11:5226685 [GRCh38]
Chr11:5247915 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.4(HBB):c.-122T>G single nucleotide variant not provided [RCV000590613] Chr11:5227143 [GRCh38]
Chr11:5248373 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-156T>C single nucleotide variant not provided [RCV002056899]|not specified [RCV000506741] Chr11:5225882 [GRCh38]
Chr11:5247112 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.387_389del (p.Ala130del) deletion not specified [RCV000506776] Chr11:5225653..5225655 [GRCh38]
Chr11:5246883..5246885 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-1G>T single nucleotide variant beta Thalassemia [RCV001078269]|not provided [RCV000506832] Chr11:5225727 [GRCh38]
Chr11:5246957 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) duplication Beta-thalassemia HBB/LCRB [RCV003313962]|HEMOGLOBIN TAK [RCV000016621]|Hemoglobinopathy [RCV001375559]|not provided [RCV000506874] Chr11:5225600..5225601 [GRCh38]
Chr11:5246830..5246831 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000518.5(HBB):c.315G>T (p.Arg105Ser) single nucleotide variant not specified [RCV000506907] Chr11:5226577 [GRCh38]
Chr11:5247807 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.33C>T (p.Ala11=) single nucleotide variant Inborn genetic diseases [RCV004023417]|not provided [RCV001503004]|not specified [RCV000507049] Chr11:5226989 [GRCh38]
Chr11:5248219 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.287dup (p.Leu97Alafs) duplication not provided [RCV000507093] Chr11:5226605 [GRCh38]
Chr11:5247835 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+26T>G single nucleotide variant beta Thalassemia [RCV001272123]|not provided [RCV000860814] Chr11:5226551 [GRCh38]
Chr11:5247781 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.92+6T>A single nucleotide variant not provided [RCV003478077] Chr11:5226924 [GRCh38]
Chr11:5248154 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-107G>C single nucleotide variant not provided [RCV002524903]|not specified [RCV000507232] Chr11:5225833 [GRCh38]
Chr11:5247063 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.315+3G>C single nucleotide variant not specified [RCV000507292] Chr11:5226574 [GRCh38]
Chr11:5247804 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-82C>T single nucleotide variant Dominant beta-thalassemia [RCV005049577]|HBB-related disorder [RCV004732913]|beta Thalassemia [RCV001078343]|not provided [RCV000507303]|not specified [RCV000855594] Chr11:5227103 [GRCh38]
Chr11:5248333 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-177A>G single nucleotide variant not provided [RCV003736798]|not specified [RCV000507329] Chr11:5225903 [GRCh38]
Chr11:5247133 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.174C>T (p.Asn58=) single nucleotide variant not provided [RCV001419584]|not specified [RCV000507371] Chr11:5226718 [GRCh38]
Chr11:5247948 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.93-2A>C single nucleotide variant Beta-thalassemia HBB/LCRB [RCV004696927]|Hemoglobinopathy [RCV000780315]|beta Thalassemia [RCV001078337]|not provided [RCV000507399] Chr11:5226801 [GRCh38]
Chr11:5248031 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*78T>C single nucleotide variant not specified [RCV000507440] Chr11:5225520 [GRCh38]
Chr11:5246750 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.1A>G (p.Met1Val) single nucleotide variant Dominant beta-thalassemia [RCV005049575]|Hemoglobinopathy [RCV000780324]|beta Thalassemia [RCV001078261]|not provided [RCV000507448] Chr11:5227021 [GRCh38]
Chr11:5248251 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*116dup duplication not provided [RCV000985257]|not specified [RCV000507501] Chr11:5225481..5225482 [GRCh38]
Chr11:5246711..5246712 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.84C>T (p.Ala28=) single nucleotide variant not provided [RCV000985756]|not specified [RCV000507534] Chr11:5226938 [GRCh38]
Chr11:5248168 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430471]|Hemoglobinopathy [RCV000781460]|beta Thalassemia [RCV000674991]|not provided [RCV000507549] Chr11:5226943 [GRCh38]
Chr11:5248173 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.217dup (p.Ser73Lysfs) duplication not provided [RCV000507557] Chr11:5226675 [GRCh38]
Chr11:5247905 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.274C>T (p.Leu92=) single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001104255]|Hb SS disease [RCV001104258]|Hemoglobin E [RCV001104256]|Inborn genetic diseases [RCV004629226]|beta Thalassemia [RCV001104257]|not provided [RCV000756242]|not specified [RCV000507587] Chr11:5226618 [GRCh38]
Chr11:5247848 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) single nucleotide variant Dominant beta-thalassemia [RCV002490848]|beta Thalassemia [RCV001272128]|not provided [RCV001281733] Chr11:5226769 [GRCh38]
Chr11:5247999 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) single nucleotide variant not specified [RCV000507628] Chr11:5226991 [GRCh38]
Chr11:5248221 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) single nucleotide variant not provided [RCV000588047]|not specified [RCV004586649] Chr11:5225683 [GRCh38]
Chr11:5246913 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) single nucleotide variant HEMOGLOBIN CAMDEN [RCV002280781]|HEMOGLOBIN MOTOWN [RCV002280782]|HEMOGLOBIN TOKUCHI [RCV002280783]|not provided [RCV001281709]|not specified [RCV000507699] Chr11:5225648 [GRCh38]
Chr11:5246878 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000518.5(HBB):c.*132C>T single nucleotide variant not provided [RCV002524902]|not specified [RCV000507917] Chr11:5225466 [GRCh38]
Chr11:5246696 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000518.5(HBB):c.180G>A (p.Lys60=) single nucleotide variant Inborn genetic diseases [RCV003159640]|beta Thalassemia [RCV001276402]|not provided [RCV000588240]|not specified [RCV000507965] Chr11:5226712 [GRCh38]
Chr11:5247942 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+81C>T single nucleotide variant beta Thalassemia [RCV000736021]|not provided [RCV000860792] Chr11:5226496 [GRCh38]
Chr11:5247726 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA indel not provided [RCV002524904]|not specified [RCV000507980] Chr11:5226796..5226829 [GRCh38]
Chr11:5248026..5248059 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000518.5(HBB):c.33dup (p.Val12fs) duplication not provided [RCV000508062] Chr11:5226988..5226989 [GRCh38]
Chr11:5248218..5248219 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) duplication beta Thalassemia [RCV001078409]|not provided [RCV000508077] Chr11:5226745..5226746 [GRCh38]
Chr11:5247975..5247976 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.162del (p.Val55fs) deletion not provided [RCV000508169] Chr11:5226730 [GRCh38]
Chr11:5247960 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NC_000011.10:g.5227114G>T single nucleotide variant not provided [RCV001284496] Chr11:5227114 [GRCh38]
Chr11:5248344 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-73C>T single nucleotide variant not provided [RCV000586215] Chr11:5227094 [GRCh38]
Chr11:5248324 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*67G>T single nucleotide variant not provided [RCV000586515] Chr11:5225531 [GRCh38]
Chr11:5246761 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.39T>C (p.Thr13=) single nucleotide variant not provided [RCV003574782]|not specified [RCV000586539] Chr11:5226983 [GRCh38]
Chr11:5248213 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer) indel Hemoglobinopathy [RCV003317770] Chr11:5227003..5227007 [GRCh38]
Chr11:5248233..5248237 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.90C>T (p.Gly30=) single nucleotide variant beta Thalassemia [RCV000588766]|not provided [RCV001269729] Chr11:5226932 [GRCh38]
Chr11:5248162 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.93-24A>G single nucleotide variant not provided [RCV000586394]|not specified [RCV005240273] Chr11:5226823 [GRCh38]
Chr11:5248053 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
NM_000518.5(HBB):c.-77_-76del deletion Beta thalassemia intermedia [RCV000587966]|Dominant beta-thalassemia [RCV005049611]|not provided [RCV005000362] Chr11:5227097..5227098 [GRCh38]
Chr11:5248327..5248328 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000518.5(HBB):c.2T>A (p.Met1Lys) single nucleotide variant beta Thalassemia [RCV000588257]|not provided [RCV000985744] Chr11:5227020 [GRCh38]
Chr11:5248250 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
NC_000011.10:g.5225432G>T single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430384] Chr11:5225432 [GRCh38]
Chr11:5246662 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-7C>A single nucleotide variant Beta-thalassemia HBB/LCRB [RCV005430554]|Hb SS disease [RCV001004563]|beta Thalassemia [RCV000667076]|not provided [RCV001283996]|not specified [RCV001000150] Chr11:5225733 [GRCh38]
Chr11:5246963 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.147del (p.Ser50fs) deletion Beta-thalassemia HBB/LCRB [RCV005430687] Chr11:5226745 [GRCh38]
Chr11:5247975 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-1G>A single nucleotide variant Beta zero thalassemia [RCV000736022]|Beta-thalassemia HBB/LCRB [RCV005430580]|beta Thalassemia [RCV000668023]|not provided [RCV003558495] Chr11:5225727 [GRCh38]
Chr11:5246957 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) indel beta Thalassemia [RCV000722147] Chr11:5226724..5226728 [GRCh38]
Chr11:5247954..5247958 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226905_5227197del deletion beta Thalassemia [RCV000722073] Chr11:5226905..5227197 [GRCh38]
Chr11:5248135..5248427 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.64dup (p.Asp22fs) duplication Beta-thalassemia HBB/LCRB [RCV005430438]|Beta-thalassemia, Ashkenazi Jewish type [RCV002284203]|beta Thalassemia [RCV000666440] Chr11:5226957..5226958 [GRCh38]
Chr11:5248187..5248188 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.93-15T>G single nucleotide variant Beta zero thalassemia [RCV000016713]|Beta-thalassemia HBB/LCRB [RCV004568488]|beta Thalassemia [RCV000665080]|not provided [RCV005422928] Chr11:5226814 [GRCh38]
Chr11:5248044 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
GRCh37/hg19 11p15.4(chr11:5175476-5258592)x1 copy number loss not provided [RCV000683301] Chr11:5175476..5258592 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.91A>C (p.Arg31=) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV004689867]|beta Thalassemia [RCV000721920]|not provided [RCV001284494] Chr11:5226931 [GRCh38]
Chr11:5248161 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.70G>A (p.Val24Ile) single nucleotide variant Hemoglobinopathy [RCV000736024]|not provided [RCV005000227] Chr11:5226952 [GRCh38]
Chr11:5248182 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.5(HBB):c.*97G>C single nucleotide variant not specified [RCV001001186] Chr11:5225501 [GRCh38]
Chr11:5246731 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.279C>A (p.His93Gln) single nucleotide variant not provided [RCV001811594] Chr11:5226613 [GRCh38]
Chr11:5247843 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.81G>C (p.Glu27Asp) single nucleotide variant Hemoglobinopathy [RCV000736023] Chr11:5226941 [GRCh38]
Chr11:5248171 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.4(chr11:5247962-5248052)x1 copy number loss not provided [RCV000737395] Chr11:5247962..5248052 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.316-246C>T single nucleotide variant not provided [RCV000977082] Chr11:5225972 [GRCh38]
Chr11:5247202 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5227134T>C single nucleotide variant not provided [RCV001284626] Chr11:5227134 [GRCh38]
Chr11:5248364 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+332T>G single nucleotide variant not provided [RCV000977328] Chr11:5226245 [GRCh38]
Chr11:5247475 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5225302A>G single nucleotide variant not provided [RCV000873184] Chr11:5225302 [GRCh38]
Chr11:5246532 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.316-292del deletion not provided [RCV000941648] Chr11:5226018 [GRCh38]
Chr11:5247248 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.316-20C>T single nucleotide variant not specified [RCV001582389] Chr11:5225746 [GRCh38]
Chr11:5246976 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-152A>T single nucleotide variant not provided [RCV000976402] Chr11:5225878 [GRCh38]
Chr11:5247108 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.*104G>A single nucleotide variant Beta-thalassemia HBB/LCRB [RCV003983197]|not provided [RCV000756244]|not specified [RCV001193738] Chr11:5225494 [GRCh38]
Chr11:5246724 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.*93A>T single nucleotide variant not provided [RCV000759787]|not specified [RCV000780323] Chr11:5225505 [GRCh38]
Chr11:5246735 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-10A>G single nucleotide variant beta Thalassemia [RCV001825504]|not provided [RCV000759789]|not specified [RCV001175410] Chr11:5227031 [GRCh38]
Chr11:5248261 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.131A>G (p.Glu44Gly) single nucleotide variant not provided [RCV000759791] Chr11:5226761 [GRCh38]
Chr11:5247991 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) single nucleotide variant Dominant beta-thalassemia [RCV002507331]|not provided [RCV000759792]|not specified [RCV002282357] Chr11:5226723 [GRCh38]
Chr11:5247953 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.201A>G (p.Lys67=) single nucleotide variant not provided [RCV000759793]|not specified [RCV005240537] Chr11:5226691 [GRCh38]
Chr11:5247921 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) duplication not provided [RCV000759794] Chr11:5226667..5226668 [GRCh38]
Chr11:5247897..5247898 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.244C>T (p.Leu82Phe) single nucleotide variant not provided [RCV000759795] Chr11:5226648 [GRCh38]
Chr11:5247878 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.41C>T (p.Ala14Val) single nucleotide variant beta Thalassemia [RCV001835952]|not provided [RCV000759799]|not specified [RCV001194401] Chr11:5226981 [GRCh38]
Chr11:5248211 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-75G>A single nucleotide variant not provided [RCV000759804] Chr11:5227096 [GRCh38]
Chr11:5248326 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.92+2T>G single nucleotide variant Beta zero thalassemia [RCV000016697]|beta Thalassemia [RCV001078334]|not provided [RCV000759805]|not specified [RCV001001413] Chr11:5226928 [GRCh38]
Chr11:5248158 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.93-14T>C single nucleotide variant not provided [RCV000759807] Chr11:5226813 [GRCh38]
Chr11:5248043 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.93-14T>A single nucleotide variant not provided [RCV001284495] Chr11:5226813 [GRCh38]
Chr11:5248043 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5225460A>C single nucleotide variant not provided [RCV000876346]|not specified [RCV001001384] Chr11:5225460 [GRCh38]
Chr11:5246690 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+125T>C single nucleotide variant not provided [RCV000983655] Chr11:5226452 [GRCh38]
Chr11:5247682 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+175A>T single nucleotide variant not provided [RCV000945047] Chr11:5226402 [GRCh38]
Chr11:5247632 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+139G>A single nucleotide variant not provided [RCV000945049] Chr11:5226438 [GRCh38]
Chr11:5247668 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+221G>A single nucleotide variant not provided [RCV000941891] Chr11:5226356 [GRCh38]
Chr11:5247586 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+109C>T single nucleotide variant not provided [RCV000877693] Chr11:5226468 [GRCh38]
Chr11:5247698 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+421T>C single nucleotide variant not provided [RCV000982376] Chr11:5226156 [GRCh38]
Chr11:5247386 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-177A>C single nucleotide variant not provided [RCV000981281] Chr11:5225903 [GRCh38]
Chr11:5247133 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5225416C>T single nucleotide variant beta Thalassemia [RCV001078285]|not provided [RCV000870817]|not specified [RCV001001383] Chr11:5225416 [GRCh38]
Chr11:5246646 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+207T>A single nucleotide variant not provided [RCV000976381] Chr11:5226370 [GRCh38]
Chr11:5247600 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-188T>C single nucleotide variant not provided [RCV000928310] Chr11:5225914 [GRCh38]
Chr11:5247144 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-217T>C single nucleotide variant not provided [RCV000981960] Chr11:5225943 [GRCh38]
Chr11:5247173 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+308del deletion not provided [RCV000942110] Chr11:5226269 [GRCh38]
Chr11:5247499 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+425T>C single nucleotide variant not provided [RCV000929071] Chr11:5226152 [GRCh38]
Chr11:5247382 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+198del deletion not provided [RCV000944577] Chr11:5226379 [GRCh38]
Chr11:5247609 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.90C>A (p.Gly30=) single nucleotide variant not provided [RCV000925535] Chr11:5226932 [GRCh38]
Chr11:5248162 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+260A>G single nucleotide variant not provided [RCV000927914] Chr11:5226317 [GRCh38]
Chr11:5247547 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.292_295dup (p.Val99fs) duplication Hemoglobinopathy [RCV001251374]|beta Thalassemia [RCV001830660]|not provided [RCV000759064] Chr11:5226596..5226597 [GRCh38]
Chr11:5247826..5247827 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NC_000011.10:g.5218346_5226066del deletion beta Thalassemia [RCV001078231] Chr11:5218346..5226066 [GRCh38]
Chr11:5239576..5247296 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG (p.Gly57_Asn58insGlnProTer) insertion beta Thalassemia [RCV001078249] Chr11:5226721..5226722 [GRCh38]
Chr11:5247951..5247952 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.178A>T (p.Lys60Ter) single nucleotide variant beta Thalassemia [RCV001078251] Chr11:5226714 [GRCh38]
Chr11:5247944 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.199A>T (p.Lys67Ter) single nucleotide variant beta Thalassemia [RCV001078258] Chr11:5226693 [GRCh38]
Chr11:5247923 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-202del deletion beta Thalassemia [RCV001078270] Chr11:5225928 [GRCh38]
Chr11:5247158 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.8del (p.His3fs) deletion Hemoglobinopathy [RCV001420874]|beta Thalassemia [RCV001078277]|not provided [RCV004998641] Chr11:5227014 [GRCh38]
Chr11:5248244 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.92+13G>T single nucleotide variant beta Thalassemia [RCV001078280]|not provided [RCV001438297]|not specified [RCV003331041] Chr11:5226917 [GRCh38]
Chr11:5248147 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NC_000011.10:g.5225895_5227411del1517insT indel beta Thalassemia [RCV001078286] Chr11:5225895..5227411 [GRCh38]
Chr11:5247125..5248641 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226452_5228055del deletion beta Thalassemia [RCV001078288] Chr11:5226452..5228055 [GRCh38]
Chr11:5247682..5249285 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226641_5227549del deletion beta Thalassemia [RCV001078290] Chr11:5226641..5227549 [GRCh38]
Chr11:5247871..5248779 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*93_*105del deletion beta Thalassemia [RCV001078302] Chr11:5225493..5225505 [GRCh38]
Chr11:5246723..5246735 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys) single nucleotide variant beta Thalassemia [RCV001078303] Chr11:5226785 [GRCh38]
Chr11:5248015 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter) single nucleotide variant beta Thalassemia [RCV001078305] Chr11:5226784 [GRCh38]
Chr11:5248014 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.206_212del (p.Leu69fs) deletion beta Thalassemia [RCV001078308] Chr11:5226680..5226686 [GRCh38]
Chr11:5247910..5247916 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.209del (p.Gly70fs) deletion beta Thalassemia [RCV001078309]|not provided [RCV001508663] Chr11:5226683 [GRCh38]
Chr11:5247913 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.210del (p.Ala71fs) deletion beta Thalassemia [RCV001078310] Chr11:5226682 [GRCh38]
Chr11:5247912 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.237_256del (p.Asp80fs) deletion beta Thalassemia [RCV001078319] Chr11:5226636..5226655 [GRCh38]
Chr11:5247866..5247885 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer) deletion beta Thalassemia [RCV001078320] Chr11:5226627..5226648 [GRCh38]
Chr11:5247857..5247878 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-98_316-86dup duplication beta Thalassemia [RCV001078324] Chr11:5225811..5225812 [GRCh38]
Chr11:5247041..5247042 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.319C>G (p.Leu107Val) single nucleotide variant beta Thalassemia [RCV001078325]|not provided [RCV001284153] Chr11:5225723 [GRCh38]
Chr11:5246953 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.5(HBB):c.339T>A (p.Cys113Ter) single nucleotide variant beta Thalassemia [RCV001078327] Chr11:5225703 [GRCh38]
Chr11:5246933 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) insertion beta Thalassemia [RCV001078329] Chr11:5225692..5225693 [GRCh38]
Chr11:5246922..5246923 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227097T>G single nucleotide variant beta Thalassemia [RCV001078338] Chr11:5227097 [GRCh38]
Chr11:5248327 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227098T>A single nucleotide variant beta Thalassemia [RCV001078339] Chr11:5227098 [GRCh38]
Chr11:5248328 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.266dup (p.Ser90fs) duplication beta Thalassemia [RCV001078365] Chr11:5226625..5226626 [GRCh38]
Chr11:5247855..5247856 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.270_271del (p.Ser90fs) deletion beta Thalassemia [RCV001078367]|not provided [RCV004998642] Chr11:5226621..5226622 [GRCh38]
Chr11:5247851..5247852 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.275dup (p.His93fs) duplication beta Thalassemia [RCV001078370] Chr11:5226616..5226617 [GRCh38]
Chr11:5247846..5247847 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.394C>T (p.Gln132Ter) single nucleotide variant beta Thalassemia [RCV001078372] Chr11:5225648 [GRCh38]
Chr11:5246878 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.397A>T (p.Lys133Ter) single nucleotide variant beta Thalassemia [RCV001078375] Chr11:5225645 [GRCh38]
Chr11:5246875 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.429_430del (p.His144fs) deletion beta Thalassemia [RCV001078380] Chr11:5225612..5225613 [GRCh38]
Chr11:5246842..5246843 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.93G>C (p.Arg31Ser) single nucleotide variant beta Thalassemia [RCV001078384] Chr11:5226799 [GRCh38]
Chr11:5226799..5226800 [GRCh38]
Chr11:5248029 [GRCh37]
Chr11:5248029..5248030 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.94del (p.Leu32fs) deletion beta Thalassemia [RCV001078386] Chr11:5226798 [GRCh38]
Chr11:5248028 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-122T>A single nucleotide variant beta Thalassemia [RCV001078393]|not provided [RCV003478697]|not specified [RCV001824922] Chr11:5227143 [GRCh38]
Chr11:5248373 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance
NC_000011.10:g.5227147G>T single nucleotide variant beta Thalassemia [RCV001078394] Chr11:5227147 [GRCh38]
Chr11:5248377 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.-138C>G single nucleotide variant beta Thalassemia [RCV001078395]|not provided [RCV003478698] Chr11:5227159 [GRCh38]
Chr11:5248389 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NC_000011.10:g.5284251_5289110del deletion beta Thalassemia [RCV001078399] Chr11:5284247..5289106 [GRCh38]
Chr11:5305477..5310336 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.138dup (p.Gly47fs) duplication beta Thalassemia [RCV001078407] Chr11:5226753..5226754 [GRCh38]
Chr11:5247983..5247984 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.146del (p.Leu49fs) deletion beta Thalassemia [RCV001078410]|not provided [RCV003478699] Chr11:5226746 [GRCh38]
Chr11:5247976 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.165del (p.Met56fs) deletion beta Thalassemia [RCV001078417] Chr11:5226727 [GRCh38]
Chr11:5247957 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.166dup (p.Met56fs) duplication beta Thalassemia [RCV001078419] Chr11:5226725..5226726 [GRCh38]
Chr11:5247955..5247956 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.78dup (p.Glu27Ter) duplication beta Thalassemia [RCV001078436]|not provided [RCV001284492] Chr11:5226943..5226944 [GRCh38]
Chr11:5248173..5248174 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.(?_5225365)_(5227294_?)del deletion not provided [RCV001032912] Chr11:5246595..5248524 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.(?_5225466)_(5227294_?)del deletion not provided [RCV001031958] Chr11:5246696..5248524 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*110_*111del deletion beta Thalassemia [RCV000780307]|not provided [RCV002477785] Chr11:5225487..5225488 [GRCh38]
Chr11:5246717..5246718 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.*65C>G single nucleotide variant not provided [RCV004997305]|not specified [RCV000780331] Chr11:5225533 [GRCh38]
Chr11:5246763 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-92C>T single nucleotide variant not provided [RCV001800881]|not specified [RCV000780306] Chr11:5227113 [GRCh38]
Chr11:5248343 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.176del (p.Pro59fs) deletion Hemoglobinopathy [RCV000780313]|beta Thalassemia [RCV001825527]|not provided [RCV001284632] Chr11:5226716 [GRCh38]
Chr11:5247946 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.235del (p.Leu79fs) deletion Beta-plus-thalassemia [RCV002280785]|beta Thalassemia [RCV004561797]|not provided [RCV002477786]|not specified [RCV001001032] Chr11:5226657 [GRCh38]
Chr11:5247887 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.316-145G>A single nucleotide variant not provided [RCV001441482]|not specified [RCV000780325] Chr11:5225871 [GRCh38]
Chr11:5247101 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-114C>A single nucleotide variant not provided [RCV000985745]|not specified [RCV000780326] Chr11:5225840 [GRCh38]
Chr11:5247070 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-28G>C single nucleotide variant not provided [RCV002068538]|not specified [RCV000780327] Chr11:5225754 [GRCh38]
Chr11:5246984 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-192G>A single nucleotide variant not specified [RCV000780330] Chr11:5225918 [GRCh38]
Chr11:5247148 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*25C>G single nucleotide variant not provided [RCV000759062] Chr11:5225573 [GRCh38]
Chr11:5246803 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*33G>T single nucleotide variant not specified [RCV000781432] Chr11:5225565 [GRCh38]
Chr11:5246795 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*48T>C single nucleotide variant not provided [RCV001284486]|not specified [RCV000781435] Chr11:5225550 [GRCh38]
Chr11:5246780 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.323G>T (p.Gly108Val) single nucleotide variant not specified [RCV000781452] Chr11:5225719 [GRCh38]
Chr11:5246949 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) single nucleotide variant Dominant beta-thalassemia [RCV005049690]|Erythrocytosis, familial, 6 [RCV001839458]|Hemoglobinopathy [RCV000781441] Chr11:5225606 [GRCh38]
Chr11:5246836 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-27T>G single nucleotide variant not provided [RCV001481699]|not specified [RCV000781434] Chr11:5225753 [GRCh38]
Chr11:5246983 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-96G>A single nucleotide variant not provided [RCV002067379]|not specified [RCV000781436] Chr11:5225822 [GRCh38]
Chr11:5247052 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.315+2del deletion beta Thalassemia [RCV000781446]|not provided [RCV004997308] Chr11:5226575 [GRCh38]
Chr11:5247805 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.316-171_316-170del microsatellite not specified [RCV000781448] Chr11:5225896..5225897 [GRCh38]
Chr11:5247126..5247127 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-102C>A single nucleotide variant not provided [RCV001411910]|not specified [RCV000781458] Chr11:5225828 [GRCh38]
Chr11:5247058 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-149_*132del deletion not provided [RCV000817298] Chr11:5225466..5225875 [GRCh38]
Chr11:5246696..5247105 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-42C>T single nucleotide variant not provided [RCV000944595]|not specified [RCV005236467] Chr11:5225768 [GRCh38]
Chr11:5246998 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+204_315+208del deletion not provided [RCV000930767] Chr11:5226369..5226373 [GRCh38]
Chr11:5247599..5247603 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+171A>G single nucleotide variant not provided [RCV000873064] Chr11:5226406 [GRCh38]
Chr11:5247636 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5227269T>C single nucleotide variant not provided [RCV000861504] Chr11:5227269 [GRCh38]
Chr11:5248499 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+189T>C single nucleotide variant not provided [RCV000928332] Chr11:5226388 [GRCh38]
Chr11:5247618 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+205T>G single nucleotide variant not provided [RCV000979389] Chr11:5226372 [GRCh38]
Chr11:5247602 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-295C>T single nucleotide variant not provided [RCV000943074] Chr11:5226021 [GRCh38]
Chr11:5247251 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+362G>A single nucleotide variant not provided [RCV000982119] Chr11:5226215 [GRCh38]
Chr11:5247445 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-147A>C single nucleotide variant not provided [RCV000975578] Chr11:5225873 [GRCh38]
Chr11:5247103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+118G>C single nucleotide variant not provided [RCV000979554] Chr11:5226459 [GRCh38]
Chr11:5247689 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-368T>G single nucleotide variant not provided [RCV000944996] Chr11:5226094 [GRCh38]
Chr11:5247324 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-18C>T single nucleotide variant not provided [RCV000978303] Chr11:5226817 [GRCh38]
Chr11:5248047 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+220C>T single nucleotide variant not provided [RCV000878914] Chr11:5226357 [GRCh38]
Chr11:5247587 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+337A>G single nucleotide variant not provided [RCV000931809] Chr11:5226240 [GRCh38]
Chr11:5247470 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-341T>C single nucleotide variant not provided [RCV000979794] Chr11:5226067 [GRCh38]
Chr11:5247297 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+334A>C single nucleotide variant not provided [RCV000943557] Chr11:5226243 [GRCh38]
Chr11:5247473 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-272G>C single nucleotide variant beta Thalassemia [RCV001078273]|not provided [RCV000978597] Chr11:5225998 [GRCh38]
Chr11:5247228 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.315+380T>C single nucleotide variant not provided [RCV000860976] Chr11:5226197 [GRCh38]
Chr11:5247427 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.92+47T>G single nucleotide variant not provided [RCV000928546] Chr11:5226883 [GRCh38]
Chr11:5248113 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+142C>T single nucleotide variant not provided [RCV000981140] Chr11:5226435 [GRCh38]
Chr11:5247665 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+272A>G single nucleotide variant not provided [RCV000981141] Chr11:5226305 [GRCh38]
Chr11:5247535 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+180T>C single nucleotide variant not provided [RCV000861198] Chr11:5226397 [GRCh38]
Chr11:5247627 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+377C>T single nucleotide variant not provided [RCV000941173] Chr11:5226200 [GRCh38]
Chr11:5247430 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-95C>T single nucleotide variant not provided [RCV000980487] Chr11:5225821 [GRCh38]
Chr11:5247051 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-36C>T single nucleotide variant not provided [RCV000983203] Chr11:5225762 [GRCh38]
Chr11:5246992 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+1G>T single nucleotide variant beta Thalassemia [RCV001170018]|not provided [RCV000759065] Chr11:5226576 [GRCh38]
Chr11:5247806 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-3C>G single nucleotide variant Beta zero thalassemia [RCV000016767]|beta Thalassemia [RCV001078322]|not provided [RCV000759068] Chr11:5225729 [GRCh38]
Chr11:5246959 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.315+204_315+207del microsatellite not provided [RCV000944217] Chr11:5226370..5226373 [GRCh38]
Chr11:5247600..5247603 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-179A>C single nucleotide variant beta Thalassemia [RCV003315253]|not provided [RCV000937128]|not specified [RCV000780328] Chr11:5225905 [GRCh38]
Chr11:5247135 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.93-21_96del deletion beta Thalassemia [RCV000780332] Chr11:5226796..5226820 [GRCh38]
Chr11:5248026..5248050 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.10C>A (p.Leu4Met) single nucleotide variant beta Thalassemia [RCV001272130]|not specified [RCV000780309] Chr11:5227012 [GRCh38]
Chr11:5248242 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*73T>C single nucleotide variant not provided [RCV004997306]|not specified [RCV000780334] Chr11:5225525 [GRCh38]
Chr11:5246755 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-369G>A single nucleotide variant beta Thalassemia [RCV001029971]|not provided [RCV002067713] Chr11:5226095 [GRCh38]
Chr11:5247325 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.190C>A (p.His64Asn) single nucleotide variant HEMOGLOBIN HANA [RCV000855777]|METHEMOGLOBINEMIA, BETA TYPE [RCV005208152] Chr11:5226702 [GRCh38]
Chr11:5247932 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.(?_5226567)_(5227294_?)del deletion not provided [RCV000792154] Chr11:5226567..5227294 [GRCh38]
Chr11:5247797..5248524 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-150C>A single nucleotide variant not provided [RCV000976401] Chr11:5225876 [GRCh38]
Chr11:5247106 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.(?_5225365)_(5225905_?)del deletion not provided [RCV000796786] Chr11:5225365..5225905 [GRCh38]
Chr11:5246595..5247135 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.120G>C (p.Gln40His) single nucleotide variant not provided [RCV000985735] Chr11:5226772 [GRCh38]
Chr11:5248002 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.294C>G (p.His98Gln) single nucleotide variant not provided [RCV000985742] Chr11:5226598 [GRCh38]
Chr11:5247828 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.316-138G>T single nucleotide variant not provided [RCV000985747] Chr11:5225864 [GRCh38]
Chr11:5247094 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.-91A>C single nucleotide variant beta Thalassemia [RCV001078345]|not provided [RCV000985757] Chr11:5227112 [GRCh38]
Chr11:5248342 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.5(HBB):c.315+70G>C single nucleotide variant not provided [RCV000943024]|not specified [RCV001000145] Chr11:5226507 [GRCh38]
Chr11:5247737 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.12G>C (p.Leu4=) single nucleotide variant not provided [RCV000977999] Chr11:5227010 [GRCh38]
Chr11:5248240 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+408T>C single nucleotide variant not provided [RCV000871917] Chr11:5226169 [GRCh38]
Chr11:5247399 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-40C>T single nucleotide variant beta Thalassemia [RCV001787120]|not provided [RCV000979851]|not specified [RCV001001326] Chr11:5226839 [GRCh38]
Chr11:5248069 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+9A>G single nucleotide variant not provided [RCV001408622]|not specified [RCV001194399] Chr11:5226568 [GRCh38]
Chr11:5247798 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-71G>T single nucleotide variant not provided [RCV000976344] Chr11:5225797 [GRCh38]
Chr11:5247027 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.*160A>G single nucleotide variant not provided [RCV000985734] Chr11:5225438 [GRCh38]
Chr11:5246668 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-121C>T single nucleotide variant beta Thalassemia [RCV001078347]|not provided [RCV000985736] Chr11:5227142 [GRCh38]
Chr11:5248372 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.216T>A (p.Phe72Leu) single nucleotide variant not provided [RCV000985738] Chr11:5226676 [GRCh38]
Chr11:5247906 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:5187270-5262621)x1 copy number loss not provided [RCV001006380] Chr11:5187270..5262621 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1 copy number loss not provided [RCV001006377] Chr11:5112523..5336304 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.4(chr11:5132252-5251954)x1 copy number loss not provided [RCV001006378] Chr11:5132252..5251954 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*129T>A single nucleotide variant Dominant beta-thalassemia [RCV005049722]|not provided [RCV000985733] Chr11:5225469 [GRCh38]
Chr11:5246699 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-290_316-274del deletion not provided [RCV000985749] Chr11:5226000..5226016 [GRCh38]
Chr11:5247230..5247246 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-332_316-328del deletion not provided [RCV000985750] Chr11:5226054..5226058 [GRCh38]
Chr11:5247284..5247288 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.427G>A (p.Ala143Thr) single nucleotide variant not provided [RCV000985753]|not specified [RCV004768759] Chr11:5225615 [GRCh38]
Chr11:5246845 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.21G>A (p.Glu7=) single nucleotide variant not provided [RCV003718388]|not specified [RCV001201249] Chr11:5227001 [GRCh38]
Chr11:5248231 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.145_146insATCT (p.Leu49fs) insertion not specified [RCV001002480] Chr11:5226746..5226747 [GRCh38]
Chr11:5247976..5247977 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.167T>C (p.Met56Thr) single nucleotide variant beta Thalassemia [RCV001833742]|not specified [RCV001193155] Chr11:5226725 [GRCh38]
Chr11:5247955 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.12G>A (p.Leu4=) single nucleotide variant not specified [RCV003317771] Chr11:5227010 [GRCh38]
Chr11:5248240 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del deletion Hemoglobinopathy [RCV003317772] Chr11:5248159..5254322 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-124A>T single nucleotide variant not provided [RCV000985746]|not specified [RCV002222650] Chr11:5225850 [GRCh38]
Chr11:5247080 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.117C>T (p.Thr39=) single nucleotide variant not provided [RCV002069213]|not specified [RCV001193153] Chr11:5226775 [GRCh38]
Chr11:5248005 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3 copy number gain See cases [RCV003317674] Chr11:5094756..5785959 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.402G>A (p.Val134=) single nucleotide variant Dominant beta-thalassemia [RCV002489263]|Inborn genetic diseases [RCV002354818]|not provided [RCV000941015] Chr11:5225640 [GRCh38]
Chr11:5246870 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-373C>A single nucleotide variant beta Thalassemia [RCV001078321]|not provided [RCV000860878] Chr11:5226099 [GRCh38]
Chr11:5247329 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.316-381G>A single nucleotide variant not provided [RCV000954496] Chr11:5226107 [GRCh38]
Chr11:5247337 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+15C>T single nucleotide variant not provided [RCV000941302] Chr11:5226562 [GRCh38]
Chr11:5247792 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-120C>G single nucleotide variant not provided [RCV000980339] Chr11:5225846 [GRCh38]
Chr11:5247076 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+36C>A single nucleotide variant not provided [RCV000931095] Chr11:5226894 [GRCh38]
Chr11:5248124 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-26T>G single nucleotide variant not provided [RCV000931835] Chr11:5225752 [GRCh38]
Chr11:5246982 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+80A>T single nucleotide variant not provided [RCV000978722] Chr11:5226497 [GRCh38]
Chr11:5247727 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+156T>C single nucleotide variant not provided [RCV000981095] Chr11:5226421 [GRCh38]
Chr11:5247651 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+203T>C single nucleotide variant not provided [RCV000941619] Chr11:5226374 [GRCh38]
Chr11:5247604 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+34C>T single nucleotide variant not provided [RCV000932819] Chr11:5226543 [GRCh38]
Chr11:5247773 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+293G>A single nucleotide variant not provided [RCV000932847] Chr11:5226284 [GRCh38]
Chr11:5247514 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.-273T>C single nucleotide variant Dominant beta-thalassemia [RCV002507457]|not provided [RCV000860863] Chr11:5227294 [GRCh38]
Chr11:5248524 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.316-323T>C single nucleotide variant not provided [RCV000932941] Chr11:5226049 [GRCh38]
Chr11:5247279 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+132G>C single nucleotide variant not provided [RCV000978744] Chr11:5226445 [GRCh38]
Chr11:5247675 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+335C>G single nucleotide variant not provided [RCV000943999] Chr11:5226242 [GRCh38]
Chr11:5247472 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.165T>C (p.Val55=) single nucleotide variant Inborn genetic diseases [RCV003380797]|not provided [RCV000982633]|not specified [RCV003387950] Chr11:5226727 [GRCh38]
Chr11:5247957 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5225352T>C single nucleotide variant not provided [RCV000874403] Chr11:5225352 [GRCh38]
Chr11:5246582 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.300T>A (p.Asp100Glu) single nucleotide variant Erythrocytosis, familial, 6 [RCV001175128]|not specified [RCV003226436] Chr11:5226592 [GRCh38]
Chr11:5247822 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.5(HBB):c.316_*132del (p.Leu106_Ter148del) deletion not provided [RCV001069159] Chr11:5225466..5225726 [GRCh38]
Chr11:5246696..5246956 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-4C>T single nucleotide variant beta Thalassemia [RCV001833733]|not provided [RCV003478703]|not specified [RCV001175411] Chr11:5227025 [GRCh38]
Chr11:5248255 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.187_251dup (p.Thr85fs) duplication beta Thalassemia [RCV001078255] Chr11:5226640..5226641 [GRCh38]
Chr11:5247870..5247871 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.189_195del (p.His64fs) deletion beta Thalassemia [RCV001078256] Chr11:5226697..5226703 [GRCh38]
Chr11:5247927..5247933 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226948_5227485del deletion beta Thalassemia [RCV001078291] Chr11:5226948..5227485 [GRCh38]
Chr11:5248178..5248715 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227096C>A single nucleotide variant beta Thalassemia [RCV001078295] Chr11:5227096 [GRCh38]
Chr11:5248326 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*32A>C single nucleotide variant beta Thalassemia [RCV001078301] Chr11:5225566 [GRCh38]
Chr11:5246796 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.339_345dup (p.Ala116fs) duplication beta Thalassemia [RCV001078326] Chr11:5225696..5225697 [GRCh38]
Chr11:5246926..5246927 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.33del (p.Val12fs) deletion beta Thalassemia [RCV001078328] Chr11:5226989 [GRCh38]
Chr11:5248219 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.354del (p.Phe119fs) deletion beta Thalassemia [RCV001078330] Chr11:5225688 [GRCh38]
Chr11:5246918 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.375dup (p.Pro126fs) duplication beta Thalassemia [RCV001078332] Chr11:5225666..5225667 [GRCh38]
Chr11:5246896..5246897 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.130dup (p.Glu44fs) duplication beta Thalassemia [RCV001078357] Chr11:5226761..5226762 [GRCh38]
Chr11:5247991..5247992 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.24dup (p.Lys9fs) duplication beta Thalassemia [RCV001078359] Chr11:5226997..5226998 [GRCh38]
Chr11:5248227..5248228 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.253_260del (p.Thr85fs) deletion beta Thalassemia [RCV001078360] Chr11:5226632..5226639 [GRCh38]
Chr11:5247862..5247869 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.266_267del (p.Leu89fs) deletion beta Thalassemia [RCV001078364] Chr11:5226625..5226626 [GRCh38]
Chr11:5247855..5247856 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.158del (p.Asp53fs) deletion beta Thalassemia [RCV001078414] Chr11:5226734 [GRCh38]
Chr11:5247964 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.163dup (p.Val55fs) duplication beta Thalassemia [RCV001078415] Chr11:5226728..5226729 [GRCh38]
Chr11:5247958..5247959 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+255T>C single nucleotide variant beta Thalassemia [RCV001078424]|not provided [RCV001430727] Chr11:5226322 [GRCh38]
Chr11:5247552 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.67G>T (p.Glu23Ter) single nucleotide variant beta Thalassemia [RCV001078431]|not provided [RCV001862655] Chr11:5226955 [GRCh38]
Chr11:5248185 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.68_74del (p.Glu23fs) deletion beta Thalassemia [RCV001078432]|not provided [RCV003558658] Chr11:5226948..5226954 [GRCh38]
Chr11:5248178..5248184 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.333G>A (p.Leu111=) single nucleotide variant not provided [RCV000985751] Chr11:5225709 [GRCh38]
Chr11:5246939 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter) single nucleotide variant not provided [RCV000985752] Chr11:5225649 [GRCh38]
Chr11:5246879 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.394_404del (p.Gln132fs) deletion Dominant beta-thalassemia [RCV001549283] Chr11:5225638..5225648 [GRCh38]
Chr11:5246868..5246878 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-83G>A single nucleotide variant not provided [RCV003477070]|not specified [RCV003236445] Chr11:5227104 [GRCh38]
Chr11:5248334 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*51G>A single nucleotide variant not specified [RCV002469984] Chr11:5225547 [GRCh38]
Chr11:5246777 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.4(chr11:5187269-5268465)x1 copy number loss not provided [RCV001006379] Chr11:5187269..5268465 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.5(HBB):c.85C>T (p.Leu29=) single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001107680]|Hb SS disease [RCV001107683]|Hemoglobin E [RCV001107682]|beta Thalassemia [RCV001107681]|not provided [RCV002069760]|not specified [RCV001174809] Chr11:5226937 [GRCh38]
Chr11:5248167 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.4:c.[316-12T>C;316-7C>A] variation beta Thalassemia [RCV001078143]   pathogenic
NM_000518.5(HBB):c.396_397del (p.Lys133fs) deletion Hemoglobinopathy [RCV001193150] Chr11:5225645..5225646 [GRCh38]
Chr11:5246875..5246876 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-28G>A single nucleotide variant not provided [RCV001428014]|not specified [RCV001000578] Chr11:5225754 [GRCh38]
Chr11:5246984 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.*59A>G single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001105803]|Hb SS disease [RCV001105804]|Hemoglobin E [RCV001105802]|beta Thalassemia [RCV001105805] Chr11:5225539 [GRCh38]
Chr11:5246769 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.87G>C (p.Leu29=) single nucleotide variant not specified [RCV001193154] Chr11:5226935 [GRCh38]
Chr11:5248165 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) single nucleotide variant beta Thalassemia [RCV001078259] Chr11:5227003 [GRCh38]
Chr11:5248233 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-208C>G single nucleotide variant beta Thalassemia [RCV001078271]|not provided [RCV002069599] Chr11:5225934 [GRCh38]
Chr11:5247164 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT (p.His3_Pro6delinsProGluValLysSerAlaTer) indel beta Thalassemia [RCV001078274] Chr11:5227006..5227014 [GRCh38]
Chr11:5248236..5248244 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92+1G>C single nucleotide variant beta Thalassemia [RCV001078281] Chr11:5226929 [GRCh38]
Chr11:5248159 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226164_5227556del deletion beta Thalassemia [RCV001078287] Chr11:5226163..5227555 [GRCh38]
Chr11:5247393..5248785 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.123del (p.Arg41fs) deletion beta Thalassemia [RCV001078352] Chr11:5226769 [GRCh38]
Chr11:5247999 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.129del (p.Phe43fs) deletion beta Thalassemia [RCV001078355] Chr11:5226763 [GRCh38]
Chr11:5247993 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) insertion beta Thalassemia [RCV001078366] Chr11:5226994..5226995 [GRCh38]
Chr11:5248224..5248225 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup) duplication beta Thalassemia [RCV001078369] Chr11:5226596..5226597 [GRCh38]
Chr11:5247826..5247827 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.165_177del (p.Met56fs) deletion beta Thalassemia [RCV001078416] Chr11:5226715..5226727 [GRCh38]
Chr11:5247945..5247957 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs) indel beta Thalassemia [RCV001078434] Chr11:5226948 [GRCh38]
Chr11:5248178 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) single nucleotide variant beta Thalassemia [RCV001827533]|not specified [RCV001582349] Chr11:5226651 [GRCh38]
Chr11:5247881 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5227562T>G single nucleotide variant not provided [RCV001652869] Chr11:5227562 [GRCh38]
Chr11:5248792 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.307A>G (p.Asn103Asp) single nucleotide variant not specified [RCV001002299] Chr11:5226585 [GRCh38]
Chr11:5247815 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.176dup (p.Pro59_Lys60insTer) duplication beta Thalassemia [RCV001078250] Chr11:5226715..5226716 [GRCh38]
Chr11:5247945..5247946 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.18_19del (p.Glu7fs) deletion beta Thalassemia [RCV001078253] Chr11:5227003..5227004 [GRCh38]
Chr11:5248233..5248234 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.1A>C (p.Met1Leu) single nucleotide variant beta Thalassemia [RCV001078260]|not provided [RCV001811644] Chr11:5227021 [GRCh38]
Chr11:5248251 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.20_45del (p.Glu7fs) deletion beta Thalassemia [RCV001078263] Chr11:5226977..5227002 [GRCh38]
Chr11:5248207..5248232 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-1del deletion beta Thalassemia [RCV001078267] Chr11:5225727 [GRCh38]
Chr11:5246957 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-272G>T single nucleotide variant beta Thalassemia [RCV001078272]|not provided [RCV001473536] Chr11:5225998 [GRCh38]
Chr11:5247228 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000518.5(HBB):c.91A>G (p.Arg31Gly) single nucleotide variant beta Thalassemia [RCV001078278]|not provided [RCV005232121] Chr11:5226931 [GRCh38]
Chr11:5248161 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.316-281_*209del619 deletion beta Thalassemia [RCV001078284] Chr11:5225389..5226007 [GRCh38]
Chr11:5246619..5247237 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226992_5227096del deletion beta Thalassemia [RCV001078292] Chr11:5226991..5227095 [GRCh38]
Chr11:5248221..5248325 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5226994_5227525del deletion beta Thalassemia [RCV001078293] Chr11:5226994..5227525 [GRCh38]
Chr11:5248224..5248755 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*108A>G single nucleotide variant beta Thalassemia [RCV001078298] Chr11:5225490 [GRCh38]
Chr11:5246720 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.216del (p.Phe72fs) deletion beta Thalassemia [RCV001078311] Chr11:5226676 [GRCh38]
Chr11:5247906 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) single nucleotide variant beta Thalassemia [RCV001078316]|not provided [RCV003478695] Chr11:5227000 [GRCh38]
Chr11:5248230 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.235dup (p.Leu79fs) duplication beta Thalassemia [RCV001078318] Chr11:5226656..5226657 [GRCh38]
Chr11:5247886..5247887 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.-79A>C single nucleotide variant beta Thalassemia [RCV001078340]|not provided [RCV003478696] Chr11:5227100 [GRCh38]
Chr11:5248330 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.11dup (p.Thr5fs) duplication beta Thalassemia [RCV001078351] Chr11:5227010..5227011 [GRCh38]
Chr11:5248240..5248241 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.126del (p.Phe43fs) deletion beta Thalassemia [RCV001078354]|not provided [RCV001053496] Chr11:5226766 [GRCh38]
Chr11:5247996 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.255dup (p.Phe86fs) duplication beta Thalassemia [RCV001078361] Chr11:5226636..5226637 [GRCh38]
Chr11:5247866..5247867 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.265_266del (p.Leu89fs) deletion beta Thalassemia [RCV001078363] Chr11:5226626..5226627 [GRCh38]
Chr11:5247856..5247857 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.395dup (p.Lys133fs) duplication beta Thalassemia [RCV001078373] Chr11:5225646..5225647 [GRCh38]
Chr11:5246876..5246877 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.3G>C (p.Met1Ile) single nucleotide variant beta Thalassemia [RCV001078377] Chr11:5227019 [GRCh38]
Chr11:5248249 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.417dup (p.Asn140Ter) duplication beta Thalassemia [RCV001078379] Chr11:5225624..5225625 [GRCh38]
Chr11:5246854..5246855 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.44del (p.Leu15fs) deletion beta Thalassemia [RCV001078381] Chr11:5226978 [GRCh38]
Chr11:5248208 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.44dup (p.Trp16fs) duplication beta Thalassemia [RCV001078382] Chr11:5226977..5226978 [GRCh38]
Chr11:5248207..5248208 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227411G>A single nucleotide variant beta Thalassemia [RCV001078397]|not provided [RCV001594409] Chr11:5227411 [GRCh38]
Chr11:5248641 [GRCh37]
Chr11:11p15.4
benign
NC_000011.10:g.5227540G>A single nucleotide variant beta Thalassemia [RCV001078398]|not provided [RCV001683733] Chr11:5227540 [GRCh38]
Chr11:5248770 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.142dup (p.Asp48fs) duplication beta Thalassemia [RCV001078408] Chr11:5226749..5226750 [GRCh38]
Chr11:5247979..5247980 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) insertion Beta-plus-thalassemia [RCV002280787]|beta Thalassemia [RCV001078420] Chr11:5226993..5226994 [GRCh38]
Chr11:5248223..5248224 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe) indel beta Thalassemia [RCV001078421] Chr11:5226590..5226591 [GRCh38]
Chr11:5247820..5247821 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.30dup (p.Ala11fs) duplication beta Thalassemia [RCV001078422]|not provided [RCV001269760] Chr11:5226991..5226992 [GRCh38]
Chr11:5248221..5248222 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.315+1del deletion beta Thalassemia [RCV001078423] Chr11:5226576 [GRCh38]
Chr11:5247806 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+2T>C single nucleotide variant beta Thalassemia [RCV001078425] Chr11:5226575 [GRCh38]
Chr11:5247805 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+5G>C single nucleotide variant beta Thalassemia [RCV001078427]|not provided [RCV003327489] Chr11:5226572 [GRCh38]
Chr11:5247802 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-12T>C single nucleotide variant not provided [RCV001419630]|not specified [RCV001000151] Chr11:5225738 [GRCh38]
Chr11:5246968 [GRCh37]
Chr11:11p15.4
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.279_280insGTGG (p.Cys94fs) insertion not provided [RCV001027525] Chr11:5226612..5226613 [GRCh38]
Chr11:5247842..5247843 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) single nucleotide variant HEMOGLOBIN ALABAMA [RCV002280786]|not provided [RCV001811595] Chr11:5226774 [GRCh38]
Chr11:5248004 [GRCh37]
Chr11:11p15.4
uncertain significance|other
NM_000518.5(HBB):c.351T>C (p.His117=) single nucleotide variant not specified [RCV001174683] Chr11:5225691 [GRCh38]
Chr11:5246921 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-81T>A single nucleotide variant not provided [RCV002069258]|not specified [RCV001194400] Chr11:5225807 [GRCh38]
Chr11:5247037 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NC_000011.10:g.5216940_5229551del deletion beta Thalassemia [RCV001078230]   pathogenic
NM_000518.5(HBB):c.20_32del (p.Glu7fs) deletion beta Thalassemia [RCV001078262] Chr11:5226990..5227002 [GRCh38]
Chr11:5248220..5248232 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.85del (p.Leu29fs) deletion beta Thalassemia [RCV001078275] Chr11:5226937 [GRCh38]
Chr11:5248167 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5225158_5227199del2042insCTTAT indel beta Thalassemia [RCV001078282] Chr11:5225158..5227199 [GRCh38]
Chr11:5246388..5248429 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-22_23dup (p.Glu8delinsAspTer) duplication beta Thalassemia [RCV001078294] Chr11:5226998..5226999 [GRCh38]
Chr11:5248228..5248229 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.111_118del (p.Trp38fs) deletion beta Thalassemia [RCV001078306] Chr11:5226774..5226781 [GRCh38]
Chr11:5248004..5248011 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.219dup (p.Asp74Ter) duplication beta Thalassemia [RCV001078314] Chr11:5226672..5226673 [GRCh38]
Chr11:5247902..5247903 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.229_230del (p.Ala77fs) deletion beta Thalassemia [RCV001078315] Chr11:5226662..5226663 [GRCh38]
Chr11:5247892..5247893 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.378del (p.Val127fs) deletion beta Thalassemia [RCV001078333] Chr11:5225664 [GRCh38]
Chr11:5246894 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-80T>C single nucleotide variant Beta-plus-thalassemia [RCV000016726]|beta Thalassemia [RCV001078342]|not provided [RCV001284493] Chr11:5227101 [GRCh38]
Chr11:5248331 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227131_5227256del deletion beta Thalassemia [RCV001078346] Chr11:5227131..5227256 [GRCh38]
Chr11:5248361..5248486 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.129dup (p.Glu44Ter) duplication Hemoglobinopathy [RCV001293624]|beta Thalassemia [RCV001078356] Chr11:5226762..5226763 [GRCh38]
Chr11:5247992..5247993 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92_94dup (p.Arg31dup) duplication Dominant beta-thalassemia [RCV001732037]|beta Thalassemia [RCV001078385] Chr11:5226797..5226798 [GRCh38]
Chr11:5248027..5248028 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.166del (p.Met56fs) deletion beta Thalassemia [RCV001078418]|not provided [RCV001284631] Chr11:5226726 [GRCh38]
Chr11:5247956 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.50dup (p.Lys18fs) duplication beta Thalassemia [RCV001078430] Chr11:5226971..5226972 [GRCh38]
Chr11:5248201..5248202 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.74del (p.Gly25fs) deletion beta Thalassemia [RCV001078433]|not provided [RCV003558659] Chr11:5226948 [GRCh38]
Chr11:5248178 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-60C>T single nucleotide variant not specified [RCV001201182] Chr11:5225786 [GRCh38]
Chr11:5247016 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*18C>A single nucleotide variant Fetal hemoglobin quantitative trait locus 1 [RCV001107577]|Hb SS disease [RCV001107579]|Hemoglobin E [RCV001106914]|beta Thalassemia [RCV001107578] Chr11:5225580 [GRCh38]
Chr11:5246810 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.51C>T (p.Gly17=) single nucleotide variant not provided [RCV001811615] Chr11:5226971 [GRCh38]
Chr11:5248201 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.179del (p.Lys60fs) deletion beta Thalassemia [RCV001078252] Chr11:5226713 [GRCh38]
Chr11:5247943 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.89del (p.Gly30fs) deletion beta Thalassemia [RCV001078276] Chr11:5226933 [GRCh38]
Chr11:5248163 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.91del (p.Arg31fs) deletion beta Thalassemia [RCV001078279] Chr11:5226931 [GRCh38]
Chr11:5248161 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.-35A>G single nucleotide variant beta Thalassemia [RCV001078297] Chr11:5227056 [GRCh38]
Chr11:5248286 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.*115_*116del deletion beta Thalassemia [RCV001078300] Chr11:5225482..5225483 [GRCh38]
Chr11:5246712..5246713 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.232del (p.His78fs) deletion beta Thalassemia [RCV001078317] Chr11:5226660 [GRCh38]
Chr11:5247890 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5227101A>C single nucleotide variant beta Thalassemia [RCV001078341] Chr11:5227101 [GRCh38]
Chr11:5248331 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.118del (p.Gln40fs) deletion beta Thalassemia [RCV001078350] Chr11:5226774 [GRCh38]
Chr11:5248004 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.125dup (p.Phe43fs) duplication beta Thalassemia [RCV001078353] Chr11:5226766..5226767 [GRCh38]
Chr11:5247996..5247997 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.244del (p.Leu82fs) deletion beta Thalassemia [RCV001078358] Chr11:5226648 [GRCh38]
Chr11:5247878 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.258dup (p.Ala87fs) duplication beta Thalassemia [RCV001078362] Chr11:5226633..5226634 [GRCh38]
Chr11:5247863..5247864 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.3G>T (p.Met1Ile) single nucleotide variant beta Thalassemia [RCV001078378]|not provided [RCV004998643] Chr11:5227019 [GRCh38]
Chr11:5248249 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000518.5(HBB):c.138del (p.Phe46fs) deletion Beta-thalassemia HBB/LCRB [RCV004689989]|Dominant beta-thalassemia [RCV001809980]|Hemoglobinopathy [RCV001420867]|beta Thalassemia [RCV001078406] Chr11:5226754 [GRCh38]
Chr11:5247984 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.150del (p.Thr51fs) deletion beta Thalassemia [RCV001078411] Chr11:5226742 [GRCh38]
Chr11:5247972 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.153del (p.Pro52fs) deletion beta Thalassemia [RCV001078412] Chr11:5226739 [GRCh38]
Chr11:5247969 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.50del (p.Gly17fs) deletion beta Thalassemia [RCV001078429] Chr11:5226972 [GRCh38]
Chr11:5248202 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.(?_5246695)_(5248302_?)del deletion beta Thalassemia [RCV001254848] Chr11:5246695..5248302 [GRCh38]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5246486_5247105delinsTCTACTT indel Beta thalassemia major [RCV001254849] Chr11:5246486..5247104 [GRCh38]
Chr11:5267716..5268334 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.154C>A (p.Pro52Thr) single nucleotide variant not provided [RCV001284629] Chr11:5226738 [GRCh38]
Chr11:5247968 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.378_379del (p.Val127fs) deletion not provided [RCV001284156] Chr11:5225663..5225664 [GRCh38]
Chr11:5246893..5246894 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-198G>A single nucleotide variant HBB-related disorder [RCV004538544]|not provided [RCV001504254]|not specified [RCV001260333] Chr11:5225924 [GRCh38]
Chr11:5247154 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.-21T>C single nucleotide variant not provided [RCV004998781]|not specified [RCV001260423] Chr11:5227042 [GRCh38]
Chr11:5248272 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*47C>T single nucleotide variant not specified [RCV001264427] Chr11:5225551 [GRCh38]
Chr11:5246781 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-85A>G single nucleotide variant not provided [RCV002069381]|not specified [RCV001264464] Chr11:5225811 [GRCh38]
Chr11:5247041 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.(?_5225465)_(5227072_?)del deletion beta Thalassemia [RCV001261501] Chr11:5246695..5248302 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.9:g.(5246957_5247806)_(5248302_?)del deletion beta Thalassemia [RCV001264539] Chr11:5247806..5248302 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.40G>A (p.Ala14Thr) single nucleotide variant beta Thalassemia [RCV001289993] Chr11:5226982 [GRCh38]
Chr11:5248212 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.389_401del (p.Ala130fs) deletion not provided [RCV002284330] Chr11:5225641..5225653 [GRCh38]
Chr11:5246871..5246883 [GRCh37]
Chr11:11p15.4
likely pathogenic
NC_000011.10:g.5225256_5225875delinsTCTACTT indel Beta-thalassemia major [RCV001261502]|Inborn genetic diseases [RCV002322173] Chr11:5225256..5225875 [GRCh38]
Chr11:5246486..5247105 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-99del deletion not provided [RCV001458446]|not specified [RCV001260337] Chr11:5225825 [GRCh38]
Chr11:5247055 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.373C>A (p.Pro125Thr) single nucleotide variant beta Thalassemia [RCV001289992] Chr11:5225669 [GRCh38]
Chr11:5246899 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+14_315+15insGG insertion not provided [RCV001283993] Chr11:5226562..5226563 [GRCh38]
Chr11:5247792..5247793 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-113_316-103del deletion not provided [RCV001283994] Chr11:5225829..5225839 [GRCh38]
Chr11:5247059..5247069 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-210T>A single nucleotide variant not provided [RCV001283995] Chr11:5225936 [GRCh38]
Chr11:5247166 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-387C>T single nucleotide variant not provided [RCV001422725] Chr11:5226113 [GRCh38]
Chr11:5247343 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+387T>C single nucleotide variant not provided [RCV001415138] Chr11:5226190 [GRCh38]
Chr11:5247420 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-405T>C single nucleotide variant not provided [RCV001391742] Chr11:5226131 [GRCh38]
Chr11:5247361 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+395T>C single nucleotide variant not provided [RCV001397363] Chr11:5226182 [GRCh38]
Chr11:5247412 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+147_315+152del deletion not provided [RCV001414710] Chr11:5226425..5226430 [GRCh38]
Chr11:5247655..5247660 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+258G>A single nucleotide variant not provided [RCV001415181] Chr11:5226319 [GRCh38]
Chr11:5247549 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-67G>C single nucleotide variant not provided [RCV001422280] Chr11:5225793 [GRCh38]
Chr11:5247023 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.144T>A (p.Asp48Glu) single nucleotide variant not provided [RCV001812341] Chr11:5226748 [GRCh38]
Chr11:5247978 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-337T>G single nucleotide variant not provided [RCV001412834] Chr11:5226063 [GRCh38]
Chr11:5247293 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs) insertion not provided [RCV001283987] Chr11:5226667..5226668 [GRCh38]
Chr11:5247897..5247898 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.260C>T (p.Ala87Val) single nucleotide variant not provided [RCV001283990]|not specified [RCV005057211] Chr11:5226632 [GRCh38]
Chr11:5247862 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.282del (p.Cys94fs) deletion not provided [RCV001283992] Chr11:5226610 [GRCh38]
Chr11:5247840 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+58T>C single nucleotide variant not provided [RCV001422314] Chr11:5226519 [GRCh38]
Chr11:5247749 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+15T>C single nucleotide variant not provided [RCV001413395] Chr11:5226915 [GRCh38]
Chr11:5248145 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+48G>A single nucleotide variant not provided [RCV001433464] Chr11:5226882 [GRCh38]
Chr11:5248112 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+55T>A single nucleotide variant not provided [RCV001422654] Chr11:5226522 [GRCh38]
Chr11:5247752 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+184T>C single nucleotide variant not provided [RCV001414670] Chr11:5226393 [GRCh38]
Chr11:5247623 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-361G>T single nucleotide variant not provided [RCV001392086] Chr11:5226087 [GRCh38]
Chr11:5247317 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+306A>T single nucleotide variant not provided [RCV001396849] Chr11:5226271 [GRCh38]
Chr11:5247501 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+139G>C single nucleotide variant not provided [RCV001392397] Chr11:5226438 [GRCh38]
Chr11:5247668 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.-134A>G single nucleotide variant not specified [RCV001358734] Chr11:5227155 [GRCh38]
Chr11:5248385 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.93-17T>C single nucleotide variant not provided [RCV001392048] Chr11:5226816 [GRCh38]
Chr11:5248046 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-389C>T single nucleotide variant not provided [RCV001415110] Chr11:5226115 [GRCh38]
Chr11:5247345 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+73A>G single nucleotide variant not provided [RCV001813135] Chr11:5226504 [GRCh38]
Chr11:5247734 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*74A>G single nucleotide variant not provided [RCV001812924]|not specified [RCV001293509] Chr11:5225524 [GRCh38]
Chr11:5246754 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.5227153C>A single nucleotide variant not provided [RCV001812269]|not specified [RCV001269247] Chr11:5227153 [GRCh38]
Chr11:5248383 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.255C>A (p.Thr85=) single nucleotide variant not provided [RCV001283989] Chr11:5226637 [GRCh38]
Chr11:5247867 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.5224303_5227790del deletion beta Thalassemia [RCV001353256] Chr11:5224303..5227790 [GRCh38]
Chr11:5245533..5249020 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.237G>C (p.Leu79=) single nucleotide variant beta Thalassemia [RCV001279267] Chr11:5226655 [GRCh38]
Chr11:5247885 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.233_234del (p.His78fs) deletion Beta-thalassemia HBB/LCRB [RCV002465869]|beta Thalassemia [RCV001375567] Chr11:5226658..5226659 [GRCh38]
Chr11:5247888..5247889 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.*47C>G single nucleotide variant not specified [RCV001290588] Chr11:5225551 [GRCh38]
Chr11:5246781 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+73A>T single nucleotide variant not provided [RCV001395577] Chr11:5226504 [GRCh38]
Chr11:5247734 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.126dup (p.Phe43fs) duplication Hemoglobinopathy [RCV001420858] Chr11:5226765..5226766 [GRCh38]
Chr11:5247995..5247996 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-90A>G single nucleotide variant not provided [RCV001813018]|not specified [RCV004699270] Chr11:5225816 [GRCh38]
Chr11:5247046 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.282T>G (p.Cys94Trp) single nucleotide variant not specified [RCV001290615] Chr11:5226610 [GRCh38]
Chr11:5247840 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+212T>G single nucleotide variant not provided [RCV001422101] Chr11:5226365 [GRCh38]
Chr11:5247595 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-145G>C single nucleotide variant not provided [RCV001396470] Chr11:5225871 [GRCh38]
Chr11:5247101 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-224A>G single nucleotide variant not provided [RCV001493814] Chr11:5225950 [GRCh38]
Chr11:5247180 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+12G>A single nucleotide variant not provided [RCV001494560]|not specified [RCV005237854] Chr11:5226918 [GRCh38]
Chr11:5248148 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+213T>A single nucleotide variant not provided [RCV001395668] Chr11:5226364 [GRCh38]
Chr11:5247594 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+127T>C single nucleotide variant not provided [RCV001412941] Chr11:5226450 [GRCh38]
Chr11:5247680 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-249A>G single nucleotide variant not provided [RCV001494948] Chr11:5225975 [GRCh38]
Chr11:5247205 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.173A>G (p.Asn58Ser) single nucleotide variant not provided [RCV001357780] Chr11:5226719 [GRCh38]
Chr11:5247949 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+283G>C single nucleotide variant not provided [RCV001395204] Chr11:5226294 [GRCh38]
Chr11:5247524 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-223T>A single nucleotide variant not provided [RCV001478820] Chr11:5225949 [GRCh38]
Chr11:5247179 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-27C>T single nucleotide variant not provided [RCV001454475] Chr11:5226826 [GRCh38]
Chr11:5248056 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-400T>C single nucleotide variant not provided [RCV001473097] Chr11:5226126 [GRCh38]
Chr11:5247356 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-378C>T single nucleotide variant not provided [RCV001495554] Chr11:5226104 [GRCh38]
Chr11:5247334 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+292A>C single nucleotide variant not provided [RCV001402055] Chr11:5226285 [GRCh38]
Chr11:5247515 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-239G>C single nucleotide variant not provided [RCV001478291] Chr11:5225965 [GRCh38]
Chr11:5247195 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+149G>A single nucleotide variant not provided [RCV001424578] Chr11:5226428 [GRCh38]
Chr11:5247658 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-339C>T single nucleotide variant not provided [RCV001481647] Chr11:5226065 [GRCh38]
Chr11:5247295 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+16G>T single nucleotide variant not provided [RCV001462016] Chr11:5226561 [GRCh38]
Chr11:5247791 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.252C>A (p.Gly84=) single nucleotide variant not provided [RCV001416885] Chr11:5226640 [GRCh38]
Chr11:5247870 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+143G>T single nucleotide variant not provided [RCV001399146] Chr11:5226434 [GRCh38]
Chr11:5247664 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+153_315+157del deletion not provided [RCV001501964] Chr11:5226420..5226424 [GRCh38]
Chr11:5247650..5247654 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-62T>C single nucleotide variant not provided [RCV001496049] Chr11:5225788 [GRCh38]
Chr11:5247018 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+140A>G single nucleotide variant not provided [RCV001441397] Chr11:5226437 [GRCh38]
Chr11:5247667 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+28T>C single nucleotide variant not provided [RCV001417230] Chr11:5226902 [GRCh38]
Chr11:5248132 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+129G>A single nucleotide variant not provided [RCV001484358] Chr11:5226448 [GRCh38]
Chr11:5247678 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+327G>A single nucleotide variant not provided [RCV001484376] Chr11:5226250 [GRCh38]
Chr11:5247480 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+41T>A single nucleotide variant not provided [RCV001492504] Chr11:5226536 [GRCh38]
Chr11:5247766 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-204G>C single nucleotide variant not provided [RCV001476091] Chr11:5225930 [GRCh38]
Chr11:5247160 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-80T>C single nucleotide variant not provided [RCV001468619] Chr11:5225806 [GRCh38]
Chr11:5247036 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-153T>C single nucleotide variant not provided [RCV001451396] Chr11:5225879 [GRCh38]
Chr11:5247109 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5227246C>T single nucleotide variant not provided [RCV001488150] Chr11:5227246 [GRCh38]
Chr11:5248476 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+213T>C single nucleotide variant not provided [RCV001488151] Chr11:5226364 [GRCh38]
Chr11:5247594 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+195T>C single nucleotide variant not provided [RCV001451672] Chr11:5226382 [GRCh38]
Chr11:5247612 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+100G>C single nucleotide variant not provided [RCV001458969] Chr11:5226477 [GRCh38]
Chr11:5247707 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+300A>G single nucleotide variant not provided [RCV001436487] Chr11:5226277 [GRCh38]
Chr11:5247507 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+18A>G single nucleotide variant not provided [RCV001479786] Chr11:5226912 [GRCh38]
Chr11:5248142 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-332C>T single nucleotide variant not provided [RCV001469091] Chr11:5226058 [GRCh38]
Chr11:5247288 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+62A>T single nucleotide variant not provided [RCV001492843] Chr11:5226868 [GRCh38]
Chr11:5248098 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.303T>G (p.Pro101=) single nucleotide variant not provided [RCV001477147] Chr11:5226589 [GRCh38]
Chr11:5247819 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.255C>T (p.Thr85=) single nucleotide variant not provided [RCV001500661] Chr11:5226637 [GRCh38]
Chr11:5247867 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.*34G>A single nucleotide variant not provided [RCV001459637] Chr11:5225564 [GRCh38]
Chr11:5246794 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+69G>A single nucleotide variant not provided [RCV001442286] Chr11:5226508 [GRCh38]
Chr11:5247738 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+50G>A single nucleotide variant not provided [RCV001462334] Chr11:5226880 [GRCh38]
Chr11:5248110 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-115dup duplication not provided [RCV001471766] Chr11:5225840..5225841 [GRCh38]
Chr11:5247070..5247071 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-359A>G single nucleotide variant not provided [RCV001503481] Chr11:5226085 [GRCh38]
Chr11:5247315 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+287C>T single nucleotide variant not provided [RCV001492945] Chr11:5226290 [GRCh38]
Chr11:5247520 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-363T>C single nucleotide variant not provided [RCV001504265] Chr11:5226089 [GRCh38]
Chr11:5247319 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-387C>A single nucleotide variant not provided [RCV001469866] Chr11:5226113 [GRCh38]
Chr11:5247343 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+317A>G single nucleotide variant not provided [RCV001434218] Chr11:5226260 [GRCh38]
Chr11:5247490 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-418G>A single nucleotide variant not provided [RCV001428991] Chr11:5226144 [GRCh38]
Chr11:5247374 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-258C>A single nucleotide variant not provided [RCV001472092] Chr11:5225984 [GRCh38]
Chr11:5247214 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-415T>G single nucleotide variant not provided [RCV001501233] Chr11:5226141 [GRCh38]
Chr11:5247371 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+391C>A single nucleotide variant not provided [RCV001440090] Chr11:5226186 [GRCh38]
Chr11:5247416 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+37C>A single nucleotide variant not provided [RCV001456151] Chr11:5226893 [GRCh38]
Chr11:5248123 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+22C>G single nucleotide variant not provided [RCV001456152] Chr11:5226908 [GRCh38]
Chr11:5248138 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+77G>T single nucleotide variant not provided [RCV001483524] Chr11:5226500 [GRCh38]
Chr11:5247730 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+35A>G single nucleotide variant not provided [RCV001506056] Chr11:5226895 [GRCh38]
Chr11:5248125 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+17C>T single nucleotide variant not provided [RCV001506057] Chr11:5226913 [GRCh38]
Chr11:5248143 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.303T>C (p.Pro101=) single nucleotide variant not provided [RCV001493225] Chr11:5226589 [GRCh38]
Chr11:5247819 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-400T>A single nucleotide variant not provided [RCV001415974] Chr11:5226126 [GRCh38]
Chr11:5247356 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+339T>A single nucleotide variant not provided [RCV001474763] Chr11:5226238 [GRCh38]
Chr11:5247468 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-358T>A single nucleotide variant not provided [RCV001481521] Chr11:5226084 [GRCh38]
Chr11:5247314 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+335C>T single nucleotide variant not provided [RCV001442921] Chr11:5226242 [GRCh38]
Chr11:5247472 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+45A>G single nucleotide variant not provided [RCV001452755] Chr11:5226885 [GRCh38]
Chr11:5248115 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+261T>C single nucleotide variant not provided [RCV001474807] Chr11:5226316 [GRCh38]
Chr11:5247546 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-261A>T single nucleotide variant not provided [RCV001416332] Chr11:5225987 [GRCh38]
Chr11:5247217 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+53T>C single nucleotide variant not provided [RCV001460154] Chr11:5226877 [GRCh38]
Chr11:5248107 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-198G>T single nucleotide variant not provided [RCV001486472] Chr11:5225924 [GRCh38]
Chr11:5247154 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.225C>G (p.Gly75=) single nucleotide variant not provided [RCV001438381] Chr11:5226667 [GRCh38]
Chr11:5247897 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-99T>G single nucleotide variant not provided [RCV001443269]|not specified [RCV001581132] Chr11:5225825 [GRCh38]
Chr11:5247055 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.315+396A>G single nucleotide variant not provided [RCV001448478] Chr11:5226181 [GRCh38]
Chr11:5247411 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+317A>C single nucleotide variant not provided [RCV001437086] Chr11:5226260 [GRCh38]
Chr11:5247490 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+394T>G single nucleotide variant not provided [RCV001438424] Chr11:5226183 [GRCh38]
Chr11:5247413 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.384G>C (p.Gln128His) single nucleotide variant Delta-beta-thalassemia [RCV001420459]|not specified [RCV005408897] Chr11:5225658 [GRCh38]
Chr11:5246888 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-370G>C single nucleotide variant not provided [RCV001409661] Chr11:5226096 [GRCh38]
Chr11:5247326 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+349T>C single nucleotide variant not provided [RCV001407027] Chr11:5226228 [GRCh38]
Chr11:5247458 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.96G>T (p.Leu32=) single nucleotide variant not provided [RCV001409762] Chr11:5226796 [GRCh38]
Chr11:5248026 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-219_316-218del deletion not provided [RCV001400867] Chr11:5225944..5225945 [GRCh38]
Chr11:5247174..5247175 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+331A>C single nucleotide variant not provided [RCV001409718] Chr11:5226246 [GRCh38]
Chr11:5247476 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+235T>G single nucleotide variant not provided [RCV001449003] Chr11:5226342 [GRCh38]
Chr11:5247572 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.196A>T (p.Lys66Ter) single nucleotide variant not provided [RCV001388315] Chr11:5226696 [GRCh38]
Chr11:5247926 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-386A>G single nucleotide variant not provided [RCV001446445] Chr11:5226112 [GRCh38]
Chr11:5247342 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.60C>T (p.Asn20=) single nucleotide variant beta Thalassemia [RCV001836395]|not provided [RCV001400263]|not specified [RCV005237782] Chr11:5226962 [GRCh38]
Chr11:5248192 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.316-336del deletion not provided [RCV001428329] Chr11:5226062 [GRCh38]
Chr11:5247292 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+234T>A single nucleotide variant not provided [RCV001407564] Chr11:5226343 [GRCh38]
Chr11:5247573 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+100G>A single nucleotide variant not provided [RCV001437484] Chr11:5226477 [GRCh38]
Chr11:5247707 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-10C>A single nucleotide variant not provided [RCV001446689] Chr11:5225736 [GRCh38]
Chr11:5246966 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-315del deletion not provided [RCV001410184] Chr11:5226041 [GRCh38]
Chr11:5247271 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+48G>T single nucleotide variant not provided [RCV001418247] Chr11:5226529 [GRCh38]
Chr11:5247759 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-397T>A single nucleotide variant not provided [RCV001447152] Chr11:5226123 [GRCh38]
Chr11:5247353 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+285T>C single nucleotide variant not provided [RCV001436125] Chr11:5226292 [GRCh38]
Chr11:5247522 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+277C>A single nucleotide variant not provided [RCV001401216] Chr11:5226300 [GRCh38]
Chr11:5247530 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5226755_5227283del deletion not provided [RCV001390477] Chr11:5226750..5227278 [GRCh38]
Chr11:5247980..5248508 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-362T>A single nucleotide variant not provided [RCV001444685] Chr11:5226088 [GRCh38]
Chr11:5247318 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.156T>C (p.Pro52=) single nucleotide variant not provided [RCV001437795] Chr11:5226736 [GRCh38]
Chr11:5247966 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-159A>C single nucleotide variant not provided [RCV001405801] Chr11:5225885 [GRCh38]
Chr11:5247115 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-31C>T single nucleotide variant not provided [RCV001408368] Chr11:5225757 [GRCh38]
Chr11:5246987 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+81C>A single nucleotide variant not provided [RCV001437808] Chr11:5226496 [GRCh38]
Chr11:5247726 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+116T>C single nucleotide variant not provided [RCV001408105] Chr11:5226461 [GRCh38]
Chr11:5247691 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.279C>T (p.His93=) single nucleotide variant not provided [RCV001447336] Chr11:5226613 [GRCh38]
Chr11:5247843 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-244T>A single nucleotide variant not provided [RCV001410713] Chr11:5225970 [GRCh38]
Chr11:5247200 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+40T>A single nucleotide variant not provided [RCV001431584] Chr11:5226890 [GRCh38]
Chr11:5248120 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+211T>C single nucleotide variant not provided [RCV001408334] Chr11:5226366 [GRCh38]
Chr11:5247596 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-405T>A single nucleotide variant not provided [RCV001401247] Chr11:5226131 [GRCh38]
Chr11:5247361 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+246C>A single nucleotide variant not provided [RCV001401283] Chr11:5226331 [GRCh38]
Chr11:5247561 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-356T>C single nucleotide variant not provided [RCV001408440] Chr11:5226082 [GRCh38]
Chr11:5247312 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-42del deletion not provided [RCV001410999]|not specified [RCV003120602] Chr11:5225768 [GRCh38]
Chr11:5246998 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.315+143G>C single nucleotide variant not provided [RCV001442778] Chr11:5226434 [GRCh38]
Chr11:5247664 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-104A>T single nucleotide variant not provided [RCV001408548] Chr11:5225830 [GRCh38]
Chr11:5247060 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+90G>A single nucleotide variant not provided [RCV001448069] Chr11:5226487 [GRCh38]
Chr11:5247717 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+41A>G single nucleotide variant not provided [RCV001448089] Chr11:5226889 [GRCh38]
Chr11:5248119 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+26T>C single nucleotide variant not provided [RCV001448090] Chr11:5226904 [GRCh38]
Chr11:5248134 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.(?_5247393)_5248785del deletion not provided [RCV001387886]   pathogenic
NC_000011.9:g.(?_5247800)_5255213del deletion not provided [RCV001387887]   pathogenic
NC_000011.9:g.(?_5247493)_5248852del deletion not provided [RCV001387888]   pathogenic
NC_000011.9:g.(?_5239576)_5247294del deletion not provided [RCV001387889]   pathogenic
NC_000011.9:g.(?_5246696)_5247105del deletion not provided [RCV001387891]   pathogenic
NM_000518.5(HBB):c.315+183_315+187del deletion not provided [RCV001448493] Chr11:5226390..5226394 [GRCh38]
Chr11:5247620..5247624 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+316_315+317del microsatellite not provided [RCV001428574] Chr11:5226260..5226261 [GRCh38]
Chr11:5247490..5247491 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+77G>A single nucleotide variant not provided [RCV001438414] Chr11:5226500 [GRCh38]
Chr11:5247730 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.150C>T (p.Ser50=) single nucleotide variant not provided [RCV001448611] Chr11:5226742 [GRCh38]
Chr11:5247972 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-148G>C single nucleotide variant not provided [RCV001457425]|not specified [RCV005237831] Chr11:5225874 [GRCh38]
Chr11:5247104 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.330G>A (p.Val110=) single nucleotide variant not provided [RCV001506086] Chr11:5225712 [GRCh38]
Chr11:5246942 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.159T>C (p.Asp53=) single nucleotide variant not provided [RCV001481679] Chr11:5226733 [GRCh38]
Chr11:5247963 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.150C>A (p.Ser50=) single nucleotide variant not provided [RCV001495468] Chr11:5226742 [GRCh38]
Chr11:5247972 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+364A>G single nucleotide variant not provided [RCV001465151] Chr11:5226213 [GRCh38]
Chr11:5247443 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.363A>G (p.Lys121=) single nucleotide variant not provided [RCV001451021] Chr11:5225679 [GRCh38]
Chr11:5246909 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-11T>C single nucleotide variant not provided [RCV001451426] Chr11:5225737 [GRCh38]
Chr11:5246967 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-304T>A single nucleotide variant not provided [RCV001458819] Chr11:5226030 [GRCh38]
Chr11:5247260 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+39A>G single nucleotide variant not provided [RCV001465564] Chr11:5226891 [GRCh38]
Chr11:5248121 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-46T>C single nucleotide variant not provided [RCV001458473] Chr11:5226845 [GRCh38]
Chr11:5248075 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.381G>A (p.Val127=) single nucleotide variant not provided [RCV001479710] Chr11:5225661 [GRCh38]
Chr11:5246891 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.261C>T (p.Ala87=) single nucleotide variant not provided [RCV001462725] Chr11:5226631 [GRCh38]
Chr11:5247861 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+410C>A single nucleotide variant not provided [RCV001499889] Chr11:5226167 [GRCh38]
Chr11:5247397 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+316C>T single nucleotide variant not provided [RCV001477191] Chr11:5226261 [GRCh38]
Chr11:5247491 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+9C>T single nucleotide variant not provided [RCV001466355] Chr11:5226921 [GRCh38]
Chr11:5248151 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-40C>A single nucleotide variant not provided [RCV001460224] Chr11:5226839 [GRCh38]
Chr11:5248069 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+312T>C single nucleotide variant not provided [RCV001463488] Chr11:5226265 [GRCh38]
Chr11:5247495 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+205dup duplication not provided [RCV001517810] Chr11:5226363..5226364 [GRCh38]
Chr11:5247593..5247594 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.273G>A (p.Glu91=) single nucleotide variant not provided [RCV001460136] Chr11:5226619 [GRCh38]
Chr11:5247849 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+71G>A single nucleotide variant not provided [RCV001456118] Chr11:5226506 [GRCh38]
Chr11:5247736 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+202T>C single nucleotide variant not provided [RCV001456530] Chr11:5226375 [GRCh38]
Chr11:5247605 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+183C>A single nucleotide variant not provided [RCV001460314] Chr11:5226394 [GRCh38]
Chr11:5247624 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+115A>T single nucleotide variant not provided [RCV001456238] Chr11:5226462 [GRCh38]
Chr11:5247692 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+368T>G single nucleotide variant not provided [RCV001484805] Chr11:5226209 [GRCh38]
Chr11:5247439 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-290C>A single nucleotide variant not provided [RCV001489053] Chr11:5226016 [GRCh38]
Chr11:5247246 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+160T>C single nucleotide variant not provided [RCV001453988] Chr11:5226417 [GRCh38]
Chr11:5247647 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+85G>A single nucleotide variant not provided [RCV001418978] Chr11:5226492 [GRCh38]
Chr11:5247722 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.(?_5246486)_5247105del deletion not provided [RCV001387890]   pathogenic
NM_000518.5(HBB):c.93-46T>A single nucleotide variant not provided [RCV001495580] Chr11:5226845 [GRCh38]
Chr11:5248075 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-411G>C single nucleotide variant not provided [RCV001484348] Chr11:5226137 [GRCh38]
Chr11:5247367 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.141G>C (p.Gly47=) single nucleotide variant not provided [RCV001486948] Chr11:5226751 [GRCh38]
Chr11:5247981 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-407A>C single nucleotide variant not provided [RCV001490191] Chr11:5226133 [GRCh38]
Chr11:5247363 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-77G>C single nucleotide variant not provided [RCV001499974] Chr11:5225803 [GRCh38]
Chr11:5247033 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-290_316-289insGGGCAATAATTT insertion not provided [RCV001464178] Chr11:5226015..5226016 [GRCh38]
Chr11:5247245..5247246 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+290T>G single nucleotide variant not provided [RCV001506034] Chr11:5226287 [GRCh38]
Chr11:5247517 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-335C>T single nucleotide variant not provided [RCV001458361] Chr11:5226061 [GRCh38]
Chr11:5247291 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+28C>G single nucleotide variant not provided [RCV001436159] Chr11:5226549 [GRCh38]
Chr11:5247779 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.9_10delinsCT (p.His3_Leu4=) indel not provided [RCV001498535] Chr11:5227012..5227013 [GRCh38]
Chr11:5248242..5248243 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-147A>T single nucleotide variant not provided [RCV001496065] Chr11:5225873 [GRCh38]
Chr11:5247103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+246C>G single nucleotide variant not provided [RCV001453204] Chr11:5226331 [GRCh38]
Chr11:5247561 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+125T>A single nucleotide variant not provided [RCV001453213] Chr11:5226452 [GRCh38]
Chr11:5247682 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+74T>C single nucleotide variant not provided [RCV001464277] Chr11:5226503 [GRCh38]
Chr11:5247733 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-379C>A single nucleotide variant not provided [RCV001467340] Chr11:5226105 [GRCh38]
Chr11:5247335 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+300dup duplication not provided [RCV001506205] Chr11:5226268..5226269 [GRCh38]
Chr11:5247498..5247499 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-278C>T single nucleotide variant not provided [RCV001497261] Chr11:5226004 [GRCh38]
Chr11:5247234 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+7A>G single nucleotide variant not provided [RCV001503337] Chr11:5226923 [GRCh38]
Chr11:5248153 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+143G>A single nucleotide variant not provided [RCV001471176] Chr11:5226434 [GRCh38]
Chr11:5247664 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-229A>G single nucleotide variant not provided [RCV001440183] Chr11:5225955 [GRCh38]
Chr11:5247185 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+237T>A single nucleotide variant not provided [RCV001500399] Chr11:5226340 [GRCh38]
Chr11:5247570 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+165G>A single nucleotide variant not provided [RCV001502553] Chr11:5226412 [GRCh38]
Chr11:5247642 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-325T>C single nucleotide variant not provided [RCV001471340] Chr11:5226051 [GRCh38]
Chr11:5247281 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.426G>T (p.Leu142=) single nucleotide variant not provided [RCV001451801] Chr11:5225616 [GRCh38]
Chr11:5246846 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+76A>C single nucleotide variant not provided [RCV001460142] Chr11:5226501 [GRCh38]
Chr11:5247731 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-36CT[2] microsatellite not provided [RCV001497757] Chr11:5226828..5226831 [GRCh38]
Chr11:5248058..5248061 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+174A>G single nucleotide variant not provided [RCV001476198] Chr11:5226403 [GRCh38]
Chr11:5247633 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-417G>A single nucleotide variant not provided [RCV001466004] Chr11:5226143 [GRCh38]
Chr11:5247373 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-347A>T single nucleotide variant not provided [RCV001499208] Chr11:5226073 [GRCh38]
Chr11:5247303 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-66A>G single nucleotide variant not provided [RCV001476302] Chr11:5225792 [GRCh38]
Chr11:5247022 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+57G>T single nucleotide variant not provided [RCV001452192] Chr11:5226873 [GRCh38]
Chr11:5248103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-282C>G single nucleotide variant not provided [RCV001460631] Chr11:5226008 [GRCh38]
Chr11:5247238 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+48G>C single nucleotide variant not provided [RCV001454025] Chr11:5226882 [GRCh38]
Chr11:5248112 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+61C>G single nucleotide variant not provided [RCV001505290] Chr11:5226869 [GRCh38]
Chr11:5248099 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+169A>G single nucleotide variant not provided [RCV001425352] Chr11:5226408 [GRCh38]
Chr11:5247638 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-7C>A single nucleotide variant not provided [RCV001467882] Chr11:5226806 [GRCh38]
Chr11:5248036 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+269_315+270del deletion not provided [RCV001401858] Chr11:5226307..5226308 [GRCh38]
Chr11:5247537..5247538 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-383T>C single nucleotide variant not provided [RCV001430231] Chr11:5226109 [GRCh38]
Chr11:5247339 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+254T>C single nucleotide variant not provided [RCV001443656] Chr11:5226323 [GRCh38]
Chr11:5247553 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+354G>A single nucleotide variant not provided [RCV001432734] Chr11:5226223 [GRCh38]
Chr11:5247453 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+211T>G single nucleotide variant not provided [RCV001485305] Chr11:5226366 [GRCh38]
Chr11:5247596 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+213del deletion not provided [RCV001418516] Chr11:5226364 [GRCh38]
Chr11:5247594 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-265A>G single nucleotide variant not provided [RCV001415992] Chr11:5225991 [GRCh38]
Chr11:5247221 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+310T>C single nucleotide variant not provided [RCV001418042] Chr11:5226267 [GRCh38]
Chr11:5247497 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+414A>C single nucleotide variant not provided [RCV001456236] Chr11:5226163 [GRCh38]
Chr11:5247393 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-15A>G single nucleotide variant not provided [RCV001424099] Chr11:5225741 [GRCh38]
Chr11:5246971 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+306_315+308del deletion not provided [RCV001418726] Chr11:5226269..5226271 [GRCh38]
Chr11:5247499..5247501 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.435G>A (p.Lys145=) single nucleotide variant not provided [RCV001428141] Chr11:5225607 [GRCh38]
Chr11:5246837 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-100T>A single nucleotide variant not provided [RCV001489014] Chr11:5225826 [GRCh38]
Chr11:5247056 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+265A>G single nucleotide variant not provided [RCV001437069] Chr11:5226312 [GRCh38]
Chr11:5247542 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-32C>T single nucleotide variant not provided [RCV001494618] Chr11:5226831 [GRCh38]
Chr11:5248061 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-68G>T single nucleotide variant not provided [RCV001501182] Chr11:5225794 [GRCh38]
Chr11:5247024 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-112A>G single nucleotide variant not provided [RCV001485488]|not specified [RCV003388020] Chr11:5225838 [GRCh38]
Chr11:5247068 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+325T>G single nucleotide variant not provided [RCV001450395] Chr11:5226252 [GRCh38]
Chr11:5247482 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+63T>C single nucleotide variant not provided [RCV001456564] Chr11:5226514 [GRCh38]
Chr11:5247744 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+158A>T single nucleotide variant not provided [RCV001456570] Chr11:5226419 [GRCh38]
Chr11:5247649 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+232T>C single nucleotide variant not provided [RCV001424545] Chr11:5226345 [GRCh38]
Chr11:5247575 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-129T>C single nucleotide variant not provided [RCV001416904] Chr11:5225855 [GRCh38]
Chr11:5247085 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+391_315+395del deletion not provided [RCV001424826] Chr11:5226182..5226186 [GRCh38]
Chr11:5247412..5247416 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.-265G>A single nucleotide variant not provided [RCV001508664] Chr11:5227286 [GRCh38]
Chr11:5248516 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.92+61C>T single nucleotide variant not provided [RCV001495460] Chr11:5226869 [GRCh38]
Chr11:5248099 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-34C>T single nucleotide variant not provided [RCV001466928] Chr11:5226833 [GRCh38]
Chr11:5248063 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.164T>C (p.Val55Ala) single nucleotide variant not specified [RCV002238578] Chr11:5226728 [GRCh38]
Chr11:5247958 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-8C>G single nucleotide variant not provided [RCV002539826]|not specified [RCV001733372] Chr11:5227029 [GRCh38]
Chr11:5248259 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.372C>T (p.Thr124=) single nucleotide variant not provided [RCV003698869]|not specified [RCV001733373] Chr11:5225670 [GRCh38]
Chr11:5246900 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-308_316-304del deletion not specified [RCV001801149] Chr11:5226030..5226034 [GRCh38]
Chr11:5247260..5247264 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.10C>G (p.Leu4Val) single nucleotide variant not provided [RCV001801051] Chr11:5227012 [GRCh38]
Chr11:5248242 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.4(HBB):c.-69G>A single nucleotide variant not provided [RCV001801071] Chr11:5227090 [GRCh38]
Chr11:5248320 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-91del deletion not provided [RCV001801155] Chr11:5225817 [GRCh38]
Chr11:5247047 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*83G>T single nucleotide variant not provided [RCV001801157] Chr11:5225515 [GRCh38]
Chr11:5246745 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.10_16delinsTCTGACT (p.Leu4_Pro6delinsSerAspSer) indel HEMOGLOBIN ANTALYA [RCV001789802] Chr11:5227006..5227012 [GRCh38]
Chr11:5248236..5248242 [GRCh37]
Chr11:11p15.4
other
NM_000518.5(HBB):c.16C>G (p.Pro6Ala) single nucleotide variant not provided [RCV001812585] Chr11:5227006 [GRCh38]
Chr11:5248236 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-3C>T single nucleotide variant Dominant beta-thalassemia [RCV002482326]|not provided [RCV001801037] Chr11:5225729 [GRCh38]
Chr11:5246959 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.65A>T (p.Asp22Val) single nucleotide variant not provided [RCV001801095] Chr11:5226957 [GRCh38]
Chr11:5248187 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.399A>T (p.Lys133Asn) single nucleotide variant not specified [RCV001801084] Chr11:5225643 [GRCh38]
Chr11:5246873 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-104G>A single nucleotide variant HBB-related disorder [RCV004536319]|not provided [RCV001801158]|not specified [RCV004770206] Chr11:5227125 [GRCh38]
Chr11:5248355 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.372C>A (p.Thr124=) single nucleotide variant not provided [RCV002541102]|not specified [RCV001779468] Chr11:5225670 [GRCh38]
Chr11:5246900 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.334G>C (p.Val112Leu) single nucleotide variant not provided [RCV001811077]|not specified [RCV004782447] Chr11:5225708 [GRCh38]
Chr11:5246938 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.315+10T>G single nucleotide variant not provided [RCV001811715] Chr11:5226567 [GRCh38]
Chr11:5247797 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.220G>C (p.Asp74His) single nucleotide variant not provided [RCV001811763] Chr11:5226672 [GRCh38]
Chr11:5247902 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4
not provided
NM_000518.5(HBB):c.380_396del (p.Val127fs) deletion beta Thalassemia [RCV004699591]|not provided [RCV001982926] Chr11:5225646..5225662 [GRCh38]
Chr11:5246876..5246892 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*132C>A single nucleotide variant Dominant beta-thalassemia [RCV005005301]|not provided [RCV003478881]|not specified [RCV001844510] Chr11:5225466 [GRCh38]
Chr11:5246696 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:5187270-5268465)x1 copy number loss not provided [RCV001829230] Chr11:5187270..5268465 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.72T>A (p.Val24=) single nucleotide variant beta Thalassemia [RCV002053878] Chr11:5226950 [GRCh38]
Chr11:5248180 [GRCh37]
Chr11:11p15.4
not provided
GRCh37/hg19 11p15.4(chr11:5221232-5373562) copy number gain not specified [RCV002052911] Chr11:5221232..5373562 [GRCh37]
Chr11:11p15.4
likely pathogenic
NC_000011.9:g.(?_5145468)_(5247440_?)del deletion not provided [RCV001962926] Chr11:5145468..5247440 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.316-141G>A single nucleotide variant not provided [RCV002210281]|not specified [RCV003317576] Chr11:5225867 [GRCh38]
Chr11:5247097 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.316-53C>T single nucleotide variant not provided [RCV002104494] Chr11:5225779 [GRCh38]
Chr11:5247009 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-95C>G single nucleotide variant not provided [RCV002210630] Chr11:5225821 [GRCh38]
Chr11:5247051 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+8T>C single nucleotide variant not provided [RCV002169972] Chr11:5226922 [GRCh38]
Chr11:5248152 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.316-394G>A single nucleotide variant not provided [RCV002189022] Chr11:5226120 [GRCh38]
Chr11:5247350 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+24T>G single nucleotide variant not provided [RCV002166533] Chr11:5226553 [GRCh38]
Chr11:5247783 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+402_315+405del deletion not provided [RCV002073895] Chr11:5226172..5226175 [GRCh38]
Chr11:5247402..5247405 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+12_315+13dup duplication not provided [RCV002108805] Chr11:5226563..5226564 [GRCh38]
Chr11:5247793..5247794 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-132T>C single nucleotide variant not provided [RCV002186983] Chr11:5225858 [GRCh38]
Chr11:5247088 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-281T>G single nucleotide variant not provided [RCV002205166] Chr11:5226007 [GRCh38]
Chr11:5247237 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+109C>A single nucleotide variant not provided [RCV002145852] Chr11:5226468 [GRCh38]
Chr11:5247698 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-162T>C single nucleotide variant not provided [RCV002165959]|not specified [RCV005419373] Chr11:5225888 [GRCh38]
Chr11:5247118 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-212A>C single nucleotide variant not provided [RCV002073435] Chr11:5225938 [GRCh38]
Chr11:5247168 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+313_315+314insAAAAACTTAACTTAAAAA microsatellite not provided [RCV002075342] Chr11:5226263..5226264 [GRCh38]
Chr11:5247493..5247494 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+114G>A single nucleotide variant not provided [RCV002169020] Chr11:5226463 [GRCh38]
Chr11:5247693 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-30C>G single nucleotide variant not provided [RCV002127758] Chr11:5226829 [GRCh38]
Chr11:5248059 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+54T>C single nucleotide variant not provided [RCV002071050] Chr11:5226523 [GRCh38]
Chr11:5247753 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+14A>C single nucleotide variant not provided [RCV002146658] Chr11:5226563 [GRCh38]
Chr11:5247793 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-260T>C single nucleotide variant not provided [RCV002127850]|not specified [RCV004526187] Chr11:5225986 [GRCh38]
Chr11:5247216 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-28G>C single nucleotide variant not provided [RCV002127757] Chr11:5226827 [GRCh38]
Chr11:5248057 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-154G>A single nucleotide variant not provided [RCV002187558] Chr11:5225880 [GRCh38]
Chr11:5247110 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.306G>A (p.Glu102=) single nucleotide variant not provided [RCV002092468] Chr11:5226586 [GRCh38]
Chr11:5247816 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-29T>C single nucleotide variant not provided [RCV002110167] Chr11:5225755 [GRCh38]
Chr11:5246985 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+344A>G single nucleotide variant not provided [RCV002108827] Chr11:5226233 [GRCh38]
Chr11:5247463 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-171_316-156dup duplication not provided [RCV002209461]|not specified [RCV004770398] Chr11:5225881..5225882 [GRCh38]
Chr11:5247111..5247112 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+40T>C single nucleotide variant not provided [RCV002186042] Chr11:5226890 [GRCh38]
Chr11:5248120 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+16G>A single nucleotide variant not provided [RCV002084663] Chr11:5226561 [GRCh38]
Chr11:5247791 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-57A>C single nucleotide variant not provided [RCV002209684] Chr11:5225783 [GRCh38]
Chr11:5247013 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+310T>A single nucleotide variant not provided [RCV002074846] Chr11:5226267 [GRCh38]
Chr11:5247497 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.195C>G (p.Gly65=) single nucleotide variant not provided [RCV002086163] Chr11:5226697 [GRCh38]
Chr11:5247927 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-273A>T single nucleotide variant not provided [RCV002090908] Chr11:5225999 [GRCh38]
Chr11:5247229 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+200C>T single nucleotide variant not provided [RCV002188433] Chr11:5226377 [GRCh38]
Chr11:5247607 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+22T>G single nucleotide variant not provided [RCV002128847] Chr11:5226555 [GRCh38]
Chr11:5247785 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-19T>G single nucleotide variant not provided [RCV002127755] Chr11:5226818 [GRCh38]
Chr11:5248048 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+48G>C single nucleotide variant not provided [RCV002071362] Chr11:5226529 [GRCh38]
Chr11:5247759 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-5C>T single nucleotide variant not provided [RCV002146374] Chr11:5226804 [GRCh38]
Chr11:5248034 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+390T>C single nucleotide variant not provided [RCV002207661] Chr11:5226187 [GRCh38]
Chr11:5247417 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-252A>G single nucleotide variant not provided [RCV002185632] Chr11:5225978 [GRCh38]
Chr11:5247208 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.300T>C (p.Asp100=) single nucleotide variant not provided [RCV002192585] Chr11:5226592 [GRCh38]
Chr11:5247822 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.18T>C (p.Pro6=) single nucleotide variant not provided [RCV002091583] Chr11:5227004 [GRCh38]
Chr11:5248234 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+264C>A single nucleotide variant not provided [RCV002186008] Chr11:5226313 [GRCh38]
Chr11:5247543 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-77G>A single nucleotide variant not provided [RCV002080073] Chr11:5225803 [GRCh38]
Chr11:5247033 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+36T>A single nucleotide variant not provided [RCV002078410] Chr11:5226541 [GRCh38]
Chr11:5247771 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+378C>T single nucleotide variant not provided [RCV002212050] Chr11:5226199 [GRCh38]
Chr11:5247429 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+379C>T single nucleotide variant not provided [RCV002212213] Chr11:5226198 [GRCh38]
Chr11:5247428 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-298A>T single nucleotide variant not provided [RCV002152543] Chr11:5226024 [GRCh38]
Chr11:5247254 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+187T>C single nucleotide variant not provided [RCV002216203] Chr11:5226390 [GRCh38]
Chr11:5247620 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.312C>T (p.Phe104=) single nucleotide variant not provided [RCV002112455] Chr11:5226580 [GRCh38]
Chr11:5247810 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-366A>G single nucleotide variant not provided [RCV002195145] Chr11:5226092 [GRCh38]
Chr11:5247322 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+312T>A single nucleotide variant not provided [RCV002093292] Chr11:5226265 [GRCh38]
Chr11:5247495 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-111T>C single nucleotide variant not provided [RCV002076234] Chr11:5225837 [GRCh38]
Chr11:5247067 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+233A>G single nucleotide variant not provided [RCV002169297] Chr11:5226344 [GRCh38]
Chr11:5247574 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+195T>A single nucleotide variant not provided [RCV002131318] Chr11:5226382 [GRCh38]
Chr11:5247612 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+24G>C single nucleotide variant not provided [RCV002149899] Chr11:5226906 [GRCh38]
Chr11:5248136 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+110G>A single nucleotide variant not provided [RCV002171321] Chr11:5226467 [GRCh38]
Chr11:5247697 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-56G>T single nucleotide variant not provided [RCV002133022] Chr11:5225782 [GRCh38]
Chr11:5247012 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+198T>C single nucleotide variant not provided [RCV002093849] Chr11:5226379 [GRCh38]
Chr11:5247609 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-193A>G single nucleotide variant not provided [RCV002216273]|not specified [RCV005238220] Chr11:5225919 [GRCh38]
Chr11:5247149 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-89T>C single nucleotide variant not provided [RCV002193313] Chr11:5225815 [GRCh38]
Chr11:5247045 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+314C>T single nucleotide variant not provided [RCV002195400] Chr11:5226263 [GRCh38]
Chr11:5247493 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-46G>C single nucleotide variant not provided [RCV002213885] Chr11:5225772 [GRCh38]
Chr11:5247002 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+46C>T single nucleotide variant not provided [RCV002107093] Chr11:5226884 [GRCh38]
Chr11:5248114 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-245C>T single nucleotide variant not provided [RCV002130218] Chr11:5225971 [GRCh38]
Chr11:5247201 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+396_315+400del deletion not provided [RCV002150467] Chr11:5226177..5226181 [GRCh38]
Chr11:5247407..5247411 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.210T>A (p.Gly70=) single nucleotide variant not provided [RCV002097164] Chr11:5226682 [GRCh38]
Chr11:5247912 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-216G>A single nucleotide variant not provided [RCV002077883] Chr11:5225942 [GRCh38]
Chr11:5247172 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+360T>C single nucleotide variant not provided [RCV002095988] Chr11:5226217 [GRCh38]
Chr11:5247447 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+7C>T single nucleotide variant not provided [RCV002152258] Chr11:5226570 [GRCh38]
Chr11:5247800 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+134C>G single nucleotide variant not provided [RCV002085769] Chr11:5226443 [GRCh38]
Chr11:5247673 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+225T>A single nucleotide variant not provided [RCV002175147] Chr11:5226352 [GRCh38]
Chr11:5247582 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-277_316-274del microsatellite not provided [RCV002096031] Chr11:5226000..5226003 [GRCh38]
Chr11:5247230..5247233 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-55G>A single nucleotide variant not provided [RCV002213864] Chr11:5226854 [GRCh38]
Chr11:5248084 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-24_93-23del deletion not provided [RCV002127756] Chr11:5226822..5226823 [GRCh38]
Chr11:5248052..5248053 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+350G>A single nucleotide variant not provided [RCV002130659] Chr11:5226227 [GRCh38]
Chr11:5247457 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-404G>T single nucleotide variant not provided [RCV002114584] Chr11:5226130 [GRCh38]
Chr11:5247360 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-209T>C single nucleotide variant not provided [RCV002174100] Chr11:5225935 [GRCh38]
Chr11:5247165 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.289C>T (p.Leu97=) single nucleotide variant not provided [RCV002130737] Chr11:5226603 [GRCh38]
Chr11:5247833 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.54G>A (p.Lys18=) single nucleotide variant not provided [RCV002092837] Chr11:5226968 [GRCh38]
Chr11:5248198 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-64A>G single nucleotide variant not provided [RCV002194803] Chr11:5226863 [GRCh38]
Chr11:5248093 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.78T>G (p.Gly26=) single nucleotide variant not provided [RCV002133231] Chr11:5226944 [GRCh38]
Chr11:5248174 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+386_315+390del deletion not provided [RCV002096665] Chr11:5226187..5226191 [GRCh38]
Chr11:5247417..5247421 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-59C>T single nucleotide variant not provided [RCV002167575] Chr11:5226858 [GRCh38]
Chr11:5248088 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-9C>G single nucleotide variant not provided [RCV002091460] Chr11:5225735 [GRCh38]
Chr11:5246965 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-49C>A single nucleotide variant not provided [RCV002076330] Chr11:5225775 [GRCh38]
Chr11:5247005 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+244T>C single nucleotide variant not provided [RCV002152913] Chr11:5226333 [GRCh38]
Chr11:5247563 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.234C>T (p.His78=) single nucleotide variant not provided [RCV002196793] Chr11:5226658 [GRCh38]
Chr11:5247888 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+58A>G single nucleotide variant not provided [RCV002193278] Chr11:5226872 [GRCh38]
Chr11:5248102 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+83G>T single nucleotide variant not provided [RCV002170826] Chr11:5226494 [GRCh38]
Chr11:5247724 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+158_315+166del deletion not provided [RCV002134438] Chr11:5226411..5226419 [GRCh38]
Chr11:5247641..5247649 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+287C>A single nucleotide variant not provided [RCV002194999] Chr11:5226290 [GRCh38]
Chr11:5247520 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+148A>G single nucleotide variant not provided [RCV002132737] Chr11:5226429 [GRCh38]
Chr11:5247659 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+219C>A single nucleotide variant not provided [RCV002193315] Chr11:5226358 [GRCh38]
Chr11:5247588 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-219A>G single nucleotide variant not provided [RCV002080314] Chr11:5225945 [GRCh38]
Chr11:5247175 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-256A>G single nucleotide variant not provided [RCV002189107] Chr11:5225982 [GRCh38]
Chr11:5247212 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+246C>T single nucleotide variant not provided [RCV002130071] Chr11:5226331 [GRCh38]
Chr11:5247561 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+11G>C single nucleotide variant not provided [RCV002170896] Chr11:5226566 [GRCh38]
Chr11:5247796 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+64A>C single nucleotide variant not provided [RCV002213624] Chr11:5226866 [GRCh38]
Chr11:5248096 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-215A>T single nucleotide variant not provided [RCV002152094] Chr11:5225941 [GRCh38]
Chr11:5247171 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+388_315+389insAATA insertion not provided [RCV002079292] Chr11:5226188..5226189 [GRCh38]
Chr11:5247418..5247419 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+57G>C single nucleotide variant not provided [RCV002166859] Chr11:5226873 [GRCh38]
Chr11:5248103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+9A>C single nucleotide variant not provided [RCV002096420]|not specified [RCV005406335] Chr11:5226568 [GRCh38]
Chr11:5247798 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-220C>T single nucleotide variant not provided [RCV002194604] Chr11:5225946 [GRCh38]
Chr11:5247176 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-172T>C single nucleotide variant not provided [RCV002159463]|not specified [RCV004587298] Chr11:5225898 [GRCh38]
Chr11:5247128 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-16A>G single nucleotide variant not provided [RCV002137031] Chr11:5226815 [GRCh38]
Chr11:5248045 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+35_92+36insATAGAATG insertion not provided [RCV002099972] Chr11:5226894..5226895 [GRCh38]
Chr11:5248124..5248125 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+293G>T single nucleotide variant not provided [RCV002179039] Chr11:5226284 [GRCh38]
Chr11:5247514 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+231C>T single nucleotide variant not provided [RCV002157894] Chr11:5226346 [GRCh38]
Chr11:5247576 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-119_316-117del microsatellite not provided [RCV002156358] Chr11:5225843..5225845 [GRCh38]
Chr11:5247073..5247075 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-43C>T single nucleotide variant not provided [RCV002098348] Chr11:5225769 [GRCh38]
Chr11:5246999 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+210T>A single nucleotide variant not provided [RCV002100715] Chr11:5226367 [GRCh38]
Chr11:5247597 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+20G>C single nucleotide variant not provided [RCV002204135] Chr11:5226557 [GRCh38]
Chr11:5247787 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-81T>C single nucleotide variant not provided [RCV002178144] Chr11:5225807 [GRCh38]
Chr11:5247037 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-284C>A single nucleotide variant not provided [RCV002219558] Chr11:5226010 [GRCh38]
Chr11:5247240 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-106C>T single nucleotide variant not provided [RCV002102786] Chr11:5225832 [GRCh38]
Chr11:5247062 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-176T>C single nucleotide variant not provided [RCV002102860] Chr11:5225902 [GRCh38]
Chr11:5247132 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+45A>G single nucleotide variant not provided [RCV002160954] Chr11:5226532 [GRCh38]
Chr11:5247762 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-82G>T single nucleotide variant not provided [RCV002157195] Chr11:5225808 [GRCh38]
Chr11:5247038 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.6G>T (p.Val2=) single nucleotide variant not provided [RCV002158095] Chr11:5227016 [GRCh38]
Chr11:5248246 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-34C>G single nucleotide variant not provided [RCV002203979] Chr11:5226833 [GRCh38]
Chr11:5248063 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-143A>G single nucleotide variant not provided [RCV002102386] Chr11:5225869 [GRCh38]
Chr11:5247099 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+56C>T single nucleotide variant not provided [RCV002204096] Chr11:5226521 [GRCh38]
Chr11:5247751 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+384T>G single nucleotide variant not provided [RCV002183320] Chr11:5226193 [GRCh38]
Chr11:5247423 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-350T>C single nucleotide variant not provided [RCV002183909] Chr11:5226076 [GRCh38]
Chr11:5247306 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+181T>C single nucleotide variant not provided [RCV002184118] Chr11:5226396 [GRCh38]
Chr11:5247626 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-410T>A single nucleotide variant not provided [RCV002180540] Chr11:5226136 [GRCh38]
Chr11:5247366 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+178G>A single nucleotide variant not provided [RCV002218145] Chr11:5226399 [GRCh38]
Chr11:5247629 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-44C>T single nucleotide variant not provided [RCV002155676] Chr11:5225770 [GRCh38]
Chr11:5247000 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+417A>G single nucleotide variant not provided [RCV002101698] Chr11:5226160 [GRCh38]
Chr11:5247390 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+176T>C single nucleotide variant not provided [RCV002140451] Chr11:5226401 [GRCh38]
Chr11:5247631 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+34C>A single nucleotide variant not provided [RCV002175364] Chr11:5226543 [GRCh38]
Chr11:5247773 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-179A>G single nucleotide variant not provided [RCV002137371] Chr11:5225905 [GRCh38]
Chr11:5247135 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.108C>T (p.Tyr36=) single nucleotide variant Dominant beta-thalassemia [RCV005050534]|not provided [RCV002182367]|not specified [RCV005419327] Chr11:5226784 [GRCh38]
Chr11:5248014 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000518.5(HBB):c.27G>A (p.Lys9=) single nucleotide variant not provided [RCV002218670]|not specified [RCV002271718] Chr11:5226995 [GRCh38]
Chr11:5248225 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+397_315+402del deletion not provided [RCV002220695] Chr11:5226175..5226180 [GRCh38]
Chr11:5247405..5247410 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+57G>A single nucleotide variant not provided [RCV002081633] Chr11:5226873 [GRCh38]
Chr11:5248103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+65G>A single nucleotide variant not provided [RCV002161941] Chr11:5226512 [GRCh38]
Chr11:5247742 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+283_315+284del microsatellite not provided [RCV002084298] Chr11:5226293..5226294 [GRCh38]
Chr11:5247523..5247524 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.87G>A (p.Leu29=) single nucleotide variant not provided [RCV002198894] Chr11:5226935 [GRCh38]
Chr11:5248165 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+49G>A single nucleotide variant not provided [RCV002157065] Chr11:5226881 [GRCh38]
Chr11:5248111 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-41A>C single nucleotide variant not provided [RCV002202483] Chr11:5226840 [GRCh38]
Chr11:5248070 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+344A>C single nucleotide variant not provided [RCV002178558] Chr11:5226233 [GRCh38]
Chr11:5247463 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-226G>A single nucleotide variant not provided [RCV002217723] Chr11:5225952 [GRCh38]
Chr11:5247182 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+183C>G single nucleotide variant not provided [RCV002157182] Chr11:5226394 [GRCh38]
Chr11:5247624 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+54G>C single nucleotide variant not provided [RCV002201024] Chr11:5226876 [GRCh38]
Chr11:5248106 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-40T>G single nucleotide variant not provided [RCV002118978] Chr11:5225766 [GRCh38]
Chr11:5246996 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+117T>A single nucleotide variant not provided [RCV002180129] Chr11:5226460 [GRCh38]
Chr11:5247690 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+229T>A single nucleotide variant not provided [RCV002159134] Chr11:5226348 [GRCh38]
Chr11:5247578 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-405_316-404inv inversion not provided [RCV002178964] Chr11:5226130..5226131 [GRCh38]
Chr11:5247360..5247361 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+330C>A single nucleotide variant not provided [RCV002135396] Chr11:5226247 [GRCh38]
Chr11:5247477 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+211_315+213del deletion not provided [RCV002100281] Chr11:5226364..5226366 [GRCh38]
Chr11:5247594..5247596 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.78T>C (p.Gly26=) single nucleotide variant not provided [RCV002198339] Chr11:5226944 [GRCh38]
Chr11:5248174 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-262G>C single nucleotide variant not provided [RCV002179792] Chr11:5225988 [GRCh38]
Chr11:5247218 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+118G>A single nucleotide variant not provided [RCV002181316] Chr11:5226459 [GRCh38]
Chr11:5247689 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+412T>C single nucleotide variant not provided [RCV002141696] Chr11:5226165 [GRCh38]
Chr11:5247395 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.258T>C (p.Phe86=) single nucleotide variant not provided [RCV002155136] Chr11:5226634 [GRCh38]
Chr11:5247864 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-154G>T single nucleotide variant not provided [RCV002176500] Chr11:5225880 [GRCh38]
Chr11:5247110 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-66A>T single nucleotide variant not provided [RCV002163089] Chr11:5225792 [GRCh38]
Chr11:5247022 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.336C>T (p.Val112=) single nucleotide variant not provided [RCV002180428] Chr11:5225706 [GRCh38]
Chr11:5246936 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-28G>T single nucleotide variant not provided [RCV002182332] Chr11:5225754 [GRCh38]
Chr11:5246984 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.(?_5247870)_(5251001_?)del deletion not provided [RCV003111332] Chr11:5247870..5251001 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+309C>A single nucleotide variant not provided [RCV003112840] Chr11:5226268 [GRCh38]
Chr11:5247498 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.-39T>C single nucleotide variant not specified [RCV004783616] Chr11:5227060 [GRCh38]
Chr11:5248290 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*37C>G single nucleotide variant not specified [RCV003123395] Chr11:5225561 [GRCh38]
Chr11:5246791 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.269del (p.Ser90fs) deletion beta Thalassemia [RCV002250997] Chr11:5226623 [GRCh38]
Chr11:5247853 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.4(HBB):c.-146G>T single nucleotide variant not specified [RCV003230925] Chr11:5227167 [GRCh38]
Chr11:5248397 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-136C>A single nucleotide variant beta Thalassemia [RCV003236443] Chr11:5227157 [GRCh38]
Chr11:5248387 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.92+15_92+16insTGG insertion not specified [RCV002266289] Chr11:5226914..5226915 [GRCh38]
Chr11:5248144..5248145 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*117C>T single nucleotide variant not specified [RCV002271931] Chr11:5225481 [GRCh38]
Chr11:5246711 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315G>A (p.Arg105=) single nucleotide variant not specified [RCV002282831] Chr11:5226577 [GRCh38]
Chr11:5247807 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.420T>G (p.Asn140Lys) single nucleotide variant not specified [RCV003236444] Chr11:5225622 [GRCh38]
Chr11:5246852 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-194T>C single nucleotide variant not specified [RCV003236446] Chr11:5225920 [GRCh38]
Chr11:5247150 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
NM_000518.5(HBB):c.382C>T (p.Gln128Ter) single nucleotide variant Dominant beta-thalassemia [RCV003226537]|not provided [RCV003478957] Chr11:5225660 [GRCh38]
Chr11:5246890 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.306G>T (p.Glu102Asp) single nucleotide variant not provided [RCV003131099] Chr11:5226586 [GRCh38]
Chr11:5247816 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.93-56G>A single nucleotide variant not provided [RCV002465964] Chr11:5226855 [GRCh38]
Chr11:5248085 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.-12C>T single nucleotide variant not specified [RCV002469983] Chr11:5227033 [GRCh38]
Chr11:5248263 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.*112A>T single nucleotide variant not provided [RCV003478963]|not specified [RCV002308596] Chr11:5225486 [GRCh38]
Chr11:5246716 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.135C>G (p.Ser45=) single nucleotide variant Inborn genetic diseases [RCV002383446] Chr11:5226757 [GRCh38]
Chr11:5247987 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+330C>G single nucleotide variant not provided [RCV002750937] Chr11:5226247 [GRCh38]
Chr11:5247477 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.102G>A (p.Val34=) single nucleotide variant not provided [RCV002775108] Chr11:5226790 [GRCh38]
Chr11:5248020 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+178_315+180del deletion not provided [RCV002861730] Chr11:5226397..5226399 [GRCh38]
Chr11:5247627..5247629 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-376A>G single nucleotide variant not provided [RCV002858077] Chr11:5226102 [GRCh38]
Chr11:5247332 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-61C>A single nucleotide variant not provided [RCV003012259] Chr11:5226860 [GRCh38]
Chr11:5248090 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.*16G>A single nucleotide variant not provided [RCV002481143] Chr11:5225582 [GRCh38]
Chr11:5246812 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+53G>T single nucleotide variant not provided [RCV002776534] Chr11:5226524 [GRCh38]
Chr11:5247754 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+316C>G single nucleotide variant not provided [RCV003035240] Chr11:5226261 [GRCh38]
Chr11:5247491 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.357T>C (p.Phe119=) single nucleotide variant not provided [RCV002908913] Chr11:5225685 [GRCh38]
Chr11:5246915 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-39T>C single nucleotide variant not provided [RCV002842593] Chr11:5226838 [GRCh38]
Chr11:5248068 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+124G>A single nucleotide variant not provided [RCV002862701] Chr11:5226453 [GRCh38]
Chr11:5247683 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-166T>C single nucleotide variant not provided [RCV002816623] Chr11:5225892 [GRCh38]
Chr11:5247122 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-99T>C single nucleotide variant not provided [RCV002842385] Chr11:5225825 [GRCh38]
Chr11:5247055 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA indel not provided [RCV002863133] Chr11:5226796..5226832 [GRCh38]
Chr11:5248026..5248062 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.93-33_101del deletion not provided [RCV002903856] Chr11:5226791..5226832 [GRCh38]
Chr11:5248021..5248062 [GRCh37]
Chr11:11p15.4
likely pathogenic
NC_000011.10:g.5225454A>C single nucleotide variant not provided [RCV002775273] Chr11:5225454 [GRCh38]
Chr11:5246684 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+47G>C single nucleotide variant not provided [RCV002613502] Chr11:5226530 [GRCh38]
Chr11:5247760 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-178T>A single nucleotide variant not provided [RCV002842525] Chr11:5225904 [GRCh38]
Chr11:5247134 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.408T>C (p.Ala136=) single nucleotide variant not provided [RCV002819866] Chr11:5225634 [GRCh38]
Chr11:5246864 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+72_315+75dup duplication not provided [RCV002862230] Chr11:5226501..5226502 [GRCh38]
Chr11:5247731..5247732 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+38C>T single nucleotide variant not provided [RCV002905009] Chr11:5226539 [GRCh38]
Chr11:5247769 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-260T>A single nucleotide variant not provided [RCV002755215] Chr11:5225986 [GRCh38]
Chr11:5247216 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-235C>G single nucleotide variant not provided [RCV002880623] Chr11:5225961 [GRCh38]
Chr11:5247191 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+44T>C single nucleotide variant not provided [RCV003078155] Chr11:5226533 [GRCh38]
Chr11:5247763 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.102G>T (p.Val34=) single nucleotide variant not provided [RCV002889153] Chr11:5226790 [GRCh38]
Chr11:5248020 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-370G>T single nucleotide variant not provided [RCV002825336] Chr11:5226096 [GRCh38]
Chr11:5247326 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+342G>A single nucleotide variant not provided [RCV002909472] Chr11:5226235 [GRCh38]
Chr11:5247465 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-25C>T single nucleotide variant not provided [RCV002999779] Chr11:5225751 [GRCh38]
Chr11:5246981 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-25C>G single nucleotide variant not provided [RCV002740228] Chr11:5225751 [GRCh38]
Chr11:5246981 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-345A>C single nucleotide variant not provided [RCV002889221] Chr11:5226071 [GRCh38]
Chr11:5247301 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-328T>A single nucleotide variant not provided [RCV002871334] Chr11:5226054 [GRCh38]
Chr11:5247284 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+205T>C single nucleotide variant not provided [RCV003021913] Chr11:5226372 [GRCh38]
Chr11:5247602 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+10A>C single nucleotide variant not provided [RCV003022016] Chr11:5226920 [GRCh38]
Chr11:5248150 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.331C>T (p.Leu111=) single nucleotide variant not provided [RCV002823947] Chr11:5225711 [GRCh38]
Chr11:5246941 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+168C>T single nucleotide variant not provided [RCV003003197] Chr11:5226409 [GRCh38]
Chr11:5247639 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+266A>G single nucleotide variant not provided [RCV003039648] Chr11:5226311 [GRCh38]
Chr11:5247541 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+248T>C single nucleotide variant not provided [RCV002953374] Chr11:5226329 [GRCh38]
Chr11:5247559 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-44G>C single nucleotide variant not provided [RCV003019142] Chr11:5226843 [GRCh38]
Chr11:5248073 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-39T>C single nucleotide variant not provided [RCV002735222] Chr11:5225765 [GRCh38]
Chr11:5246995 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+83G>A single nucleotide variant not provided [RCV002824118] Chr11:5226494 [GRCh38]
Chr11:5247724 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-324A>G single nucleotide variant not provided [RCV002820468] Chr11:5226050 [GRCh38]
Chr11:5247280 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-270G>A single nucleotide variant not provided [RCV003000047] Chr11:5225996 [GRCh38]
Chr11:5247226 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+12G>T single nucleotide variant not provided [RCV002736524] Chr11:5226565 [GRCh38]
Chr11:5247795 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.111T>G (p.Pro37=) single nucleotide variant not provided [RCV003000178] Chr11:5226781 [GRCh38]
Chr11:5248011 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+288A>C single nucleotide variant not provided [RCV002620925] Chr11:5226289 [GRCh38]
Chr11:5247519 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+404T>C single nucleotide variant not provided [RCV002640105] Chr11:5226173 [GRCh38]
Chr11:5247403 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.285C>T (p.Asp95=) single nucleotide variant not provided [RCV002800021] Chr11:5226607 [GRCh38]
Chr11:5247837 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+214del deletion not provided [RCV003035913] Chr11:5226363 [GRCh38]
Chr11:5247593 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-254G>A single nucleotide variant not provided [RCV002843914] Chr11:5225980 [GRCh38]
Chr11:5247210 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+321T>G single nucleotide variant not provided [RCV002871101] Chr11:5226256 [GRCh38]
Chr11:5247486 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+299T>A single nucleotide variant not provided [RCV002866569] Chr11:5226278 [GRCh38]
Chr11:5247508 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+8T>C single nucleotide variant not provided [RCV002706716]|not specified [RCV005406506] Chr11:5226569 [GRCh38]
Chr11:5247799 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-89T>A single nucleotide variant not provided [RCV003006262] Chr11:5225815 [GRCh38]
Chr11:5247045 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+64A>G single nucleotide variant not provided [RCV003007919] Chr11:5226866 [GRCh38]
Chr11:5248096 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-84T>C single nucleotide variant not provided [RCV003005981] Chr11:5225810 [GRCh38]
Chr11:5247040 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+423C>T single nucleotide variant not provided [RCV003008003] Chr11:5226154 [GRCh38]
Chr11:5247384 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+230A>G single nucleotide variant not provided [RCV002853315] Chr11:5226347 [GRCh38]
Chr11:5247577 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.246C>T (p.Leu82=) single nucleotide variant not provided [RCV003007531]|not specified [RCV005239596] Chr11:5226646 [GRCh38]
Chr11:5247876 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-79G>A single nucleotide variant not provided [RCV002624937]|not specified [RCV004783021] Chr11:5225805 [GRCh38]
Chr11:5247035 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+322G>A single nucleotide variant not provided [RCV002801813] Chr11:5226255 [GRCh38]
Chr11:5247485 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+229dup duplication not provided [RCV002852128] Chr11:5226347..5226348 [GRCh38]
Chr11:5247577..5247578 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.316-149T>A single nucleotide variant not provided [RCV002801725] Chr11:5225875 [GRCh38]
Chr11:5247105 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+342G>T single nucleotide variant not provided [RCV003041566] Chr11:5226235 [GRCh38]
Chr11:5247465 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+88_315+89del deletion not provided [RCV003006511] Chr11:5226488..5226489 [GRCh38]
Chr11:5247718..5247719 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+305A>G single nucleotide variant not provided [RCV003056280] Chr11:5226272 [GRCh38]
Chr11:5247502 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+119C>A single nucleotide variant not provided [RCV002852686] Chr11:5226458 [GRCh38]
Chr11:5247688 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5227197G>A single nucleotide variant not provided [RCV002624938] Chr11:5227197 [GRCh38]
Chr11:5248427 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+331A>G single nucleotide variant not provided [RCV003039795] Chr11:5226246 [GRCh38]
Chr11:5247476 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-31T>G single nucleotide variant not provided [RCV002871743] Chr11:5226830 [GRCh38]
Chr11:5248060 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+352G>A single nucleotide variant not provided [RCV003023514] Chr11:5226225 [GRCh38]
Chr11:5247455 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-393T>C single nucleotide variant not provided [RCV003043430] Chr11:5226119 [GRCh38]
Chr11:5247349 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+307A>G single nucleotide variant not provided [RCV002828706] Chr11:5226270 [GRCh38]
Chr11:5247500 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-27C>A single nucleotide variant not provided [RCV002626574] Chr11:5226826 [GRCh38]
Chr11:5248056 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.252C>T (p.Gly84=) single nucleotide variant not provided [RCV002919169] Chr11:5226640 [GRCh38]
Chr11:5247870 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+375C>A single nucleotide variant not provided [RCV003057962] Chr11:5226202 [GRCh38]
Chr11:5247432 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-65_93-64del deletion not provided [RCV003006364] Chr11:5226863..5226864 [GRCh38]
Chr11:5248093..5248094 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.45G>T (p.Leu15=) single nucleotide variant not provided [RCV002894434] Chr11:5226977 [GRCh38]
Chr11:5248207 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-328del deletion not provided [RCV002853418] Chr11:5226054 [GRCh38]
Chr11:5247284 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+300A>T single nucleotide variant not provided [RCV002851711] Chr11:5226277 [GRCh38]
Chr11:5247507 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+26T>C single nucleotide variant not provided [RCV002765988] Chr11:5226551 [GRCh38]
Chr11:5247781 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-245C>A single nucleotide variant not provided [RCV002745243] Chr11:5225971 [GRCh38]
Chr11:5247201 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-131A>G single nucleotide variant not provided [RCV003024853] Chr11:5225857 [GRCh38]
Chr11:5247087 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-344A>C single nucleotide variant not provided [RCV002790945] Chr11:5226070 [GRCh38]
Chr11:5247300 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-173A>T single nucleotide variant not provided [RCV002851133] Chr11:5225899 [GRCh38]
Chr11:5247129 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-18C>G single nucleotide variant not provided [RCV002805276] Chr11:5226817 [GRCh38]
Chr11:5248047 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+47G>A single nucleotide variant not provided [RCV002626611] Chr11:5226530 [GRCh38]
Chr11:5247760 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-286A>C single nucleotide variant not provided [RCV002872652] Chr11:5226012 [GRCh38]
Chr11:5247242 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+164T>C single nucleotide variant not provided [RCV003044893] Chr11:5226413 [GRCh38]
Chr11:5247643 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+32G>A single nucleotide variant not provided [RCV002791861] Chr11:5226898 [GRCh38]
Chr11:5248128 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-185C>G single nucleotide variant not provided [RCV002899062] Chr11:5225911 [GRCh38]
Chr11:5247141 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+315A>C single nucleotide variant not provided [RCV003029063] Chr11:5226262 [GRCh38]
Chr11:5247492 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+418T>C single nucleotide variant not provided [RCV002791982] Chr11:5226159 [GRCh38]
Chr11:5247389 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-386A>C single nucleotide variant not provided [RCV002877302] Chr11:5226112 [GRCh38]
Chr11:5247342 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+257T>A single nucleotide variant not provided [RCV003029264] Chr11:5226320 [GRCh38]
Chr11:5247550 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-119A>G single nucleotide variant not provided [RCV003065866] Chr11:5225845 [GRCh38]
Chr11:5247075 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.249G>A (p.Lys83=) single nucleotide variant not provided [RCV002646829] Chr11:5226643 [GRCh38]
Chr11:5247873 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+129del deletion not provided [RCV003009855] Chr11:5226448 [GRCh38]
Chr11:5247678 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-78G>A single nucleotide variant not provided [RCV003044711] Chr11:5225804 [GRCh38]
Chr11:5247034 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-48del deletion not provided [RCV003045679] Chr11:5225774 [GRCh38]
Chr11:5247004 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-49C>G single nucleotide variant not provided [RCV003045680] Chr11:5225775 [GRCh38]
Chr11:5247005 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+128G>C single nucleotide variant not provided [RCV003009857] Chr11:5226449 [GRCh38]
Chr11:5247679 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+210_315+213del deletion not provided [RCV003087464] Chr11:5226364..5226367 [GRCh38]
Chr11:5247594..5247597 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+22C>T single nucleotide variant not provided [RCV002877224] Chr11:5226908 [GRCh38]
Chr11:5248138 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+217C>A single nucleotide variant not provided [RCV003029060] Chr11:5226360 [GRCh38]
Chr11:5247590 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-360C>T single nucleotide variant not provided [RCV003029283] Chr11:5226086 [GRCh38]
Chr11:5247316 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+45A>C single nucleotide variant not provided [RCV003044579] Chr11:5226532 [GRCh38]
Chr11:5247762 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+237T>C single nucleotide variant not provided [RCV003045656] Chr11:5226340 [GRCh38]
Chr11:5247570 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-264A>G single nucleotide variant not provided [RCV003029093] Chr11:5225990 [GRCh38]
Chr11:5247220 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+22C>A single nucleotide variant not provided [RCV002937702] Chr11:5226908 [GRCh38]
Chr11:5248138 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-65T>G single nucleotide variant not provided [RCV002835104] Chr11:5225791 [GRCh38]
Chr11:5247021 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-145G>T single nucleotide variant not provided [RCV002877527] Chr11:5225871 [GRCh38]
Chr11:5247101 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+65G>A single nucleotide variant not provided [RCV002746576] Chr11:5226865 [GRCh38]
Chr11:5248095 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.276G>A (p.Leu92=) single nucleotide variant not provided [RCV002833857] Chr11:5226616 [GRCh38]
Chr11:5247846 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+319T>C single nucleotide variant not provided [RCV002899335] Chr11:5226258 [GRCh38]
Chr11:5247488 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+366A>G single nucleotide variant not provided [RCV003029719] Chr11:5226211 [GRCh38]
Chr11:5247441 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+211T>A single nucleotide variant not provided [RCV002899522] Chr11:5226366 [GRCh38]
Chr11:5247596 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+50T>A single nucleotide variant not provided [RCV002961888] Chr11:5226527 [GRCh38]
Chr11:5247757 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+36C>T single nucleotide variant not provided [RCV002900429] Chr11:5226894 [GRCh38]
Chr11:5248124 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+207T>C single nucleotide variant not provided [RCV003048648] Chr11:5226370 [GRCh38]
Chr11:5247600 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+199G>A single nucleotide variant not provided [RCV002900510] Chr11:5226378 [GRCh38]
Chr11:5247608 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+21A>G single nucleotide variant not provided [RCV002811244] Chr11:5226909 [GRCh38]
Chr11:5248139 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+299T>C single nucleotide variant not provided [RCV002746243] Chr11:5226278 [GRCh38]
Chr11:5247508 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+65G>T single nucleotide variant not provided [RCV003046656] Chr11:5226865 [GRCh38]
Chr11:5248095 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-291C>T single nucleotide variant not provided [RCV002835295] Chr11:5226017 [GRCh38]
Chr11:5247247 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-216G>C single nucleotide variant not provided [RCV003048020] Chr11:5225942 [GRCh38]
Chr11:5247172 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-38G>A single nucleotide variant not provided [RCV003010423] Chr11:5226837 [GRCh38]
Chr11:5248067 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity
NM_000518.5(HBB):c.315+308_315+309insG insertion not provided [RCV003066234] Chr11:5226268..5226269 [GRCh38]
Chr11:5247498..5247499 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-308C>A single nucleotide variant not provided [RCV003052513] Chr11:5226034 [GRCh38]
Chr11:5247264 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+351T>A single nucleotide variant not provided [RCV003051524] Chr11:5226226 [GRCh38]
Chr11:5247456 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-106C>A single nucleotide variant not specified [RCV003155685] Chr11:5225832 [GRCh38]
Chr11:5247062 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*5G>C single nucleotide variant not specified [RCV003155736] Chr11:5225593 [GRCh38]
Chr11:5246823 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.372C>G (p.Thr124=) single nucleotide variant not provided [RCV003549024]|not specified [RCV003226680] Chr11:5225670 [GRCh38]
Chr11:5246900 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly) indel not provided [RCV003135515] Chr11:5226602..5226603 [GRCh38]
Chr11:5247832..5247833 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*57C>G single nucleotide variant not provided [RCV003477068]|not specified [RCV003226681] Chr11:5225541 [GRCh38]
Chr11:5246771 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.118_121dup (p.Arg41fs) duplication Hemoglobinopathy [RCV003324392] Chr11:5226770..5226771 [GRCh38]
Chr11:5248000..5248001 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.276G>T (p.Leu92=) single nucleotide variant not specified [RCV003324390] Chr11:5226616 [GRCh38]
Chr11:5247846 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-44C>G single nucleotide variant not specified [RCV003324389] Chr11:5225770 [GRCh38]
Chr11:5247000 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.259G>T (p.Ala87Ser) single nucleotide variant not specified [RCV003324391] Chr11:5226633 [GRCh38]
Chr11:5247863 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.421_422delinsAT (p.Ala141Ile) indel Erythrocytosis, familial, 6 [RCV003337869] Chr11:5225620..5225621 [GRCh38]
Chr11:5246850..5246851 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-222A>G single nucleotide variant not provided [RCV003569229] Chr11:5225948 [GRCh38]
Chr11:5247178 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+164T>G single nucleotide variant not provided [RCV003569452] Chr11:5226413 [GRCh38]
Chr11:5247643 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5227261C>T single nucleotide variant not provided [RCV002211175] Chr11:5227261 [GRCh38]
Chr11:5248491 [GRCh37]
Chr11:11p15.4
likely pathogenic|conflicting interpretations of pathogenicity
NM_000518.4(HBB):c.-106G>A single nucleotide variant not provided [RCV003477267] Chr11:5227127 [GRCh38]
Chr11:5248357 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-137_-136insG insertion not provided [RCV003477270] Chr11:5227157..5227158 [GRCh38]
Chr11:5248387..5248388 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.24G>C (p.Glu8Asp) single nucleotide variant not provided [RCV003477277] Chr11:5226998 [GRCh38]
Chr11:5248228 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.93-19T>C single nucleotide variant not provided [RCV003570240] Chr11:5226818 [GRCh38]
Chr11:5248048 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-348T>A single nucleotide variant not provided [RCV003571468] Chr11:5226074 [GRCh38]
Chr11:5247304 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.114G>T (p.Trp38Cys) single nucleotide variant not provided [RCV003477269] Chr11:5226778 [GRCh38]
Chr11:5248008 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-13C>T single nucleotide variant not provided [RCV003570355] Chr11:5225739 [GRCh38]
Chr11:5246969 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-335C>A single nucleotide variant not provided [RCV003570522] Chr11:5226061 [GRCh38]
Chr11:5247291 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+256G>A single nucleotide variant not provided [RCV003543803] Chr11:5226321 [GRCh38]
Chr11:5247551 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+63T>G single nucleotide variant not provided [RCV003571306] Chr11:5226514 [GRCh38]
Chr11:5247744 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+25G>A single nucleotide variant not provided [RCV003712673] Chr11:5226905 [GRCh38]
Chr11:5248135 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.-130T>C single nucleotide variant not specified [RCV003479851] Chr11:5227151 [GRCh38]
Chr11:5248381 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+5G>A single nucleotide variant not provided [RCV005402036]|not specified [RCV003480005] Chr11:5226572 [GRCh38]
Chr11:5247802 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.212C>G (p.Ala71Gly) single nucleotide variant not provided [RCV003477275] Chr11:5226680 [GRCh38]
Chr11:5247910 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.24G>A (p.Glu8=) single nucleotide variant not provided [RCV003477276] Chr11:5226998 [GRCh38]
Chr11:5248228 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.342dup (p.Leu115fs) duplication not provided [RCV003477282] Chr11:5225699..5225700 [GRCh38]
Chr11:5246929..5246930 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.185A>C (p.Lys62Thr) single nucleotide variant not provided [RCV003477272] Chr11:5226707 [GRCh38]
Chr11:5247937 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.263_267dup (p.Ser90delinsHisTer) duplication not provided [RCV003477278] Chr11:5226624..5226625 [GRCh38]
Chr11:5247854..5247855 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.4(chr11:5183175-5269140)x1 copy number loss not provided [RCV003483111] Chr11:5183175..5269140 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.407C>T (p.Ala136Val) single nucleotide variant not specified [RCV003479690] Chr11:5225635 [GRCh38]
Chr11:5246865 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.433A>T (p.Lys145Ter) single nucleotide variant not provided [RCV003478200] Chr11:5225609 [GRCh38]
Chr11:5246839 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:5187271-5258592)x1 copy number loss not provided [RCV003483112] Chr11:5187271..5258592 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.114del (p.Pro37_Trp38insTer) deletion not provided [RCV003477268] Chr11:5226778 [GRCh38]
Chr11:5248008 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV003477273] Chr11:5226699 [GRCh38]
Chr11:5247929 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.202G>C (p.Val68Leu) single nucleotide variant not provided [RCV003477274] Chr11:5226690 [GRCh38]
Chr11:5247920 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.279C>G (p.His93Gln) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV003447721] Chr11:5226613 [GRCh38]
Chr11:5247843 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.*4C>T single nucleotide variant not provided [RCV003477263]|not specified [RCV005407166] Chr11:5225594 [GRCh38]
Chr11:5246824 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*5G>A single nucleotide variant not provided [RCV003477264] Chr11:5225593 [GRCh38]
Chr11:5246823 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*78T>A single nucleotide variant not provided [RCV003477266] Chr11:5225520 [GRCh38]
Chr11:5246750 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-179A>T single nucleotide variant not provided [RCV003477280] Chr11:5225905 [GRCh38]
Chr11:5247135 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000518.5(HBB):c.316-7C>T single nucleotide variant not provided [RCV003477281] Chr11:5225733 [GRCh38]
Chr11:5246963 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000518.5(HBB):c.181G>T (p.Val61Leu) single nucleotide variant HBB-related disorder [RCV004528677] Chr11:5226711 [GRCh38]
Chr11:5247941 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-144T>A single nucleotide variant not provided [RCV003689673] Chr11:5225870 [GRCh38]
Chr11:5247100 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-248T>C single nucleotide variant not provided [RCV003692021] Chr11:5225974 [GRCh38]
Chr11:5247204 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.213C>T (p.Ala71=) single nucleotide variant not provided [RCV003579034] Chr11:5226679 [GRCh38]
Chr11:5247909 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+324C>T single nucleotide variant not provided [RCV003691094] Chr11:5226253 [GRCh38]
Chr11:5247483 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-87T>G single nucleotide variant not provided [RCV003577587] Chr11:5225813 [GRCh38]
Chr11:5247043 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+170T>G single nucleotide variant not provided [RCV003574311] Chr11:5226407 [GRCh38]
Chr11:5247637 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-51A>C single nucleotide variant not provided [RCV003715164]|not specified [RCV005063129] Chr11:5225777 [GRCh38]
Chr11:5247007 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+392T>C single nucleotide variant not provided [RCV003693812] Chr11:5226185 [GRCh38]
Chr11:5247415 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+245G>A single nucleotide variant not provided [RCV003696397] Chr11:5226332 [GRCh38]
Chr11:5247562 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-149T>C single nucleotide variant not provided [RCV003573168] Chr11:5225875 [GRCh38]
Chr11:5247105 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+188_315+191del deletion not provided [RCV003693993] Chr11:5226386..5226389 [GRCh38]
Chr11:5247616..5247619 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+369C>T single nucleotide variant not provided [RCV003824835] Chr11:5226208 [GRCh38]
Chr11:5247438 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+104A>T single nucleotide variant not provided [RCV003578689] Chr11:5226473 [GRCh38]
Chr11:5247703 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-308C>T single nucleotide variant not provided [RCV003693555] Chr11:5226034 [GRCh38]
Chr11:5247264 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-119A>C single nucleotide variant not provided [RCV003686738] Chr11:5225845 [GRCh38]
Chr11:5247075 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-389C>A single nucleotide variant not provided [RCV003713687] Chr11:5226115 [GRCh38]
Chr11:5247345 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+294T>G single nucleotide variant not provided [RCV003693137] Chr11:5226283 [GRCh38]
Chr11:5247513 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-122A>T single nucleotide variant not provided [RCV003694269] Chr11:5225848 [GRCh38]
Chr11:5247078 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5227294= variation not provided [RCV003120271] Chr11:5227294 [GRCh38]
Chr11:5248524 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+356T>C single nucleotide variant not provided [RCV003687660] Chr11:5226221 [GRCh38]
Chr11:5247451 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+167T>C single nucleotide variant not provided [RCV003715113] Chr11:5226410 [GRCh38]
Chr11:5247640 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-309T>C single nucleotide variant not provided [RCV003577265] Chr11:5226035 [GRCh38]
Chr11:5247265 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-182T>G single nucleotide variant not provided [RCV003662859] Chr11:5225908 [GRCh38]
Chr11:5247138 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+164del deletion not provided [RCV003695132] Chr11:5226413 [GRCh38]
Chr11:5247643 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-199G>A single nucleotide variant not provided [RCV003575498] Chr11:5225925 [GRCh38]
Chr11:5247155 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-24A>C single nucleotide variant not provided [RCV003691578] Chr11:5225750 [GRCh38]
Chr11:5246980 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+238A>G single nucleotide variant not provided [RCV003578498] Chr11:5226339 [GRCh38]
Chr11:5247569 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.116C>G (p.Thr39Ser) single nucleotide variant not specified [RCV003490830] Chr11:5226776 [GRCh38]
Chr11:5248006 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.315+219C>T single nucleotide variant not provided [RCV003692949] Chr11:5226358 [GRCh38]
Chr11:5247588 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+89A>T single nucleotide variant not provided [RCV003660741] Chr11:5226488 [GRCh38]
Chr11:5247718 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+222C>A single nucleotide variant not provided [RCV003572095] Chr11:5226355 [GRCh38]
Chr11:5247585 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+296A>G single nucleotide variant not provided [RCV003687895] Chr11:5226281 [GRCh38]
Chr11:5247511 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.4(HBB):c.-122T>C single nucleotide variant Thalassemia [RCV003517868] Chr11:5227143 [GRCh38]
Chr11:5248373 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-170T>C single nucleotide variant not provided [RCV003573712] Chr11:5225896 [GRCh38]
Chr11:5247126 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5226995_5227524del deletion not provided [RCV003695996] Chr11:5226993..5227522 [GRCh38]
Chr11:5248223..5248752 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.345_348dup (p.His117fs) duplication Hemoglobinopathy [RCV003489626] Chr11:5225693..5225694 [GRCh38]
Chr11:5246923..5246924 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+122C>A single nucleotide variant not provided [RCV003573763] Chr11:5226455 [GRCh38]
Chr11:5247685 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+82_315+83del deletion not provided [RCV003693706]|not specified [RCV005240866] Chr11:5226494..5226495 [GRCh38]
Chr11:5247724..5247725 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-14T>C single nucleotide variant not provided [RCV003695749] Chr11:5225740 [GRCh38]
Chr11:5246970 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+74T>A single nucleotide variant not provided [RCV003713886] Chr11:5226503 [GRCh38]
Chr11:5247733 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-394G>C single nucleotide variant not provided [RCV003714411] Chr11:5226120 [GRCh38]
Chr11:5247350 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-191C>T single nucleotide variant not provided [RCV003715095] Chr11:5225917 [GRCh38]
Chr11:5247147 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+60T>C single nucleotide variant not provided [RCV003547695] Chr11:5226517 [GRCh38]
Chr11:5247747 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+262A>G single nucleotide variant not provided [RCV003690782] Chr11:5226315 [GRCh38]
Chr11:5247545 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-102C>T single nucleotide variant not provided [RCV003573023] Chr11:5225828 [GRCh38]
Chr11:5247058 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+37T>A single nucleotide variant not provided [RCV003572878] Chr11:5226540 [GRCh38]
Chr11:5247770 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.195C>T (p.Gly65=) single nucleotide variant not provided [RCV003688562] Chr11:5226697 [GRCh38]
Chr11:5247927 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+18T>C single nucleotide variant not provided [RCV003661617] Chr11:5226559 [GRCh38]
Chr11:5247789 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+338T>G single nucleotide variant not provided [RCV003573221] Chr11:5226239 [GRCh38]
Chr11:5247469 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-60C>G single nucleotide variant not provided [RCV003692489] Chr11:5225786 [GRCh38]
Chr11:5247016 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-191C>A single nucleotide variant not provided [RCV003575689] Chr11:5225917 [GRCh38]
Chr11:5247147 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-38del deletion not provided [RCV003547058] Chr11:5225764 [GRCh38]
Chr11:5246994 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.316-390A>G single nucleotide variant not provided [RCV003572307] Chr11:5226116 [GRCh38]
Chr11:5247346 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-315dup duplication not provided [RCV003688066] Chr11:5226040..5226041 [GRCh38]
Chr11:5247270..5247271 [GRCh37]
Chr11:11p15.4
benign
NM_000518.5(HBB):c.315+259dup duplication not provided [RCV003544091] Chr11:5226317..5226318 [GRCh38]
Chr11:5247547..5247548 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+406G>A single nucleotide variant not provided [RCV003661441] Chr11:5226171 [GRCh38]
Chr11:5247401 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.354C>T (p.His118=) single nucleotide variant not provided [RCV003716843] Chr11:5225688 [GRCh38]
Chr11:5246918 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+351T>C single nucleotide variant not provided [RCV003663726] Chr11:5226226 [GRCh38]
Chr11:5247456 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-417G>T single nucleotide variant not provided [RCV003549360] Chr11:5226143 [GRCh38]
Chr11:5247373 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-284C>T single nucleotide variant not provided [RCV003699757] Chr11:5226010 [GRCh38]
Chr11:5247240 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.84C>A (p.Ala28=) single nucleotide variant not provided [RCV003702935] Chr11:5226938 [GRCh38]
Chr11:5248168 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.(?_5246693)_(5246957_5247806)del deletion beta Thalassemia [RCV003994950] Chr11:5246693..5246957 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+243A>T single nucleotide variant not provided [RCV003550077] Chr11:5226334 [GRCh38]
Chr11:5247564 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+251A>C single nucleotide variant not provided [RCV003701702] Chr11:5226326 [GRCh38]
Chr11:5247556 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+411A>G single nucleotide variant not provided [RCV003699987] Chr11:5226166 [GRCh38]
Chr11:5247396 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+361T>G single nucleotide variant not provided [RCV003812048] Chr11:5226216 [GRCh38]
Chr11:5247446 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-5C>G single nucleotide variant not provided [RCV003665906] Chr11:5226804 [GRCh38]
Chr11:5248034 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+385dup duplication not provided [RCV003703727] Chr11:5226191..5226192 [GRCh38]
Chr11:5247421..5247422 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+166T>A single nucleotide variant not provided [RCV003670289] Chr11:5226411 [GRCh38]
Chr11:5247641 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.237G>T (p.Leu79=) single nucleotide variant not provided [RCV003558215] Chr11:5226655 [GRCh38]
Chr11:5247885 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.282T>C (p.Cys94=) single nucleotide variant not provided [RCV003581021] Chr11:5226610 [GRCh38]
Chr11:5247840 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-24A>G single nucleotide variant not provided [RCV003558184] Chr11:5225750 [GRCh38]
Chr11:5246980 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-365T>C single nucleotide variant not provided [RCV003666821] Chr11:5226091 [GRCh38]
Chr11:5247321 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+138G>A single nucleotide variant not provided [RCV003672172] Chr11:5226439 [GRCh38]
Chr11:5247669 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-176T>G single nucleotide variant not provided [RCV003549919] Chr11:5225902 [GRCh38]
Chr11:5247132 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+221G>T single nucleotide variant not provided [RCV003669824] Chr11:5226356 [GRCh38]
Chr11:5247586 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+273A>G single nucleotide variant not provided [RCV003559952] Chr11:5226304 [GRCh38]
Chr11:5247534 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+371T>C single nucleotide variant not provided [RCV003666906] Chr11:5226206 [GRCh38]
Chr11:5247436 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-361G>A single nucleotide variant not provided [RCV003668793] Chr11:5226087 [GRCh38]
Chr11:5247317 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+284A>C single nucleotide variant not provided [RCV003664058] Chr11:5226293 [GRCh38]
Chr11:5247523 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-213A>C single nucleotide variant not provided [RCV003558111] Chr11:5225939 [GRCh38]
Chr11:5247169 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+273A>T single nucleotide variant not provided [RCV003702207] Chr11:5226304 [GRCh38]
Chr11:5247534 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-9C>T single nucleotide variant not provided [RCV003666875] Chr11:5225735 [GRCh38]
Chr11:5246965 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+204C>A single nucleotide variant not provided [RCV003559979] Chr11:5226373 [GRCh38]
Chr11:5247603 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+204del deletion not provided [RCV003668866] Chr11:5226373 [GRCh38]
Chr11:5247603 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.267G>A (p.Leu89=) single nucleotide variant not provided [RCV003697016] Chr11:5226625 [GRCh38]
Chr11:5247855 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+226T>A single nucleotide variant not provided [RCV003678941] Chr11:5226351 [GRCh38]
Chr11:5247581 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+372A>C single nucleotide variant not provided [RCV003678552] Chr11:5226205 [GRCh38]
Chr11:5247435 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-27C>G single nucleotide variant not provided [RCV003681016] Chr11:5226826 [GRCh38]
Chr11:5248056 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.171C>A (p.Gly57=) single nucleotide variant not provided [RCV003731339] Chr11:5226721 [GRCh38]
Chr11:5247951 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+270G>A single nucleotide variant not provided [RCV003679933] Chr11:5226307 [GRCh38]
Chr11:5247537 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-411G>T single nucleotide variant not provided [RCV003567101] Chr11:5226137 [GRCh38]
Chr11:5247367 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-28G>T single nucleotide variant not provided [RCV003711230] Chr11:5226827 [GRCh38]
Chr11:5248057 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+157T>C single nucleotide variant not provided [RCV003675228] Chr11:5226420 [GRCh38]
Chr11:5247650 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+173C>A single nucleotide variant not provided [RCV003675719] Chr11:5226404 [GRCh38]
Chr11:5247634 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-405del deletion not provided [RCV003555412] Chr11:5226131 [GRCh38]
Chr11:5247361 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-27T>C single nucleotide variant not provided [RCV003682943] Chr11:5225753 [GRCh38]
Chr11:5246983 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+111_315+112insATTCTA insertion not provided [RCV003542851] Chr11:5226465..5226466 [GRCh38]
Chr11:5247695..5247696 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+105C>G single nucleotide variant not provided [RCV003550423] Chr11:5226472 [GRCh38]
Chr11:5247702 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.348C>T (p.Ala116=) single nucleotide variant not provided [RCV003566595] Chr11:5225694 [GRCh38]
Chr11:5246924 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+269G>A single nucleotide variant not provided [RCV003682304] Chr11:5226308 [GRCh38]
Chr11:5247538 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-392G>A single nucleotide variant not provided [RCV003683505] Chr11:5226118 [GRCh38]
Chr11:5247348 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+174A>T single nucleotide variant not provided [RCV003711712] Chr11:5226403 [GRCh38]
Chr11:5247633 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+239C>T single nucleotide variant not provided [RCV003709729] Chr11:5226338 [GRCh38]
Chr11:5247568 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.147G>C (p.Leu49=) single nucleotide variant not provided [RCV003711719] Chr11:5226745 [GRCh38]
Chr11:5247975 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+406G>C single nucleotide variant not provided [RCV003710014] Chr11:5226171 [GRCh38]
Chr11:5247401 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+323C>T single nucleotide variant not provided [RCV003706184] Chr11:5226254 [GRCh38]
Chr11:5247484 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-33del deletion not provided [RCV003707498] Chr11:5225759 [GRCh38]
Chr11:5246989 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.198G>A (p.Lys66=) single nucleotide variant not provided [RCV003677066] Chr11:5226694 [GRCh38]
Chr11:5247924 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+347T>C single nucleotide variant not provided [RCV003685119] Chr11:5226230 [GRCh38]
Chr11:5247460 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-62A>T single nucleotide variant not provided [RCV003685147] Chr11:5226861 [GRCh38]
Chr11:5248091 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+415T>C single nucleotide variant not provided [RCV003685337] Chr11:5226162 [GRCh38]
Chr11:5247392 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.265C>T (p.Leu89=) single nucleotide variant not provided [RCV003686127] Chr11:5226627 [GRCh38]
Chr11:5247857 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-376A>T single nucleotide variant not provided [RCV003551840] Chr11:5226102 [GRCh38]
Chr11:5247332 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+204_315+206del deletion not provided [RCV003719453] Chr11:5226371..5226373 [GRCh38]
Chr11:5247601..5247603 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.92+43A>C single nucleotide variant not provided [RCV003557105] Chr11:5226887 [GRCh38]
Chr11:5248117 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+333T>A single nucleotide variant not provided [RCV003552274] Chr11:5226244 [GRCh38]
Chr11:5247474 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-9C>G single nucleotide variant not provided [RCV003677660] Chr11:5226808 [GRCh38]
Chr11:5248038 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+96A>G single nucleotide variant not provided [RCV003721409] Chr11:5226481 [GRCh38]
Chr11:5247711 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+90G>T single nucleotide variant not provided [RCV003719431] Chr11:5226487 [GRCh38]
Chr11:5247717 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-346A>C single nucleotide variant not provided [RCV003677863] Chr11:5226072 [GRCh38]
Chr11:5247302 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-259A>G single nucleotide variant not provided [RCV003871898] Chr11:5225985 [GRCh38]
Chr11:5247215 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-72G>A single nucleotide variant not provided [RCV003681770] Chr11:5225798 [GRCh38]
Chr11:5247028 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.308A>T (p.Asn103Ile) single nucleotide variant not provided [RCV003736488] Chr11:5226584 [GRCh38]
Chr11:5247814 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-128G>A single nucleotide variant not provided [RCV003704609] Chr11:5225854 [GRCh38]
Chr11:5247084 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-269C>A single nucleotide variant not provided [RCV003565861] Chr11:5225995 [GRCh38]
Chr11:5247225 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+109C>G single nucleotide variant not provided [RCV003683729] Chr11:5226468 [GRCh38]
Chr11:5247698 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+107G>A single nucleotide variant not provided [RCV003684653] Chr11:5226470 [GRCh38]
Chr11:5247700 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+163C>T single nucleotide variant not provided [RCV003684803] Chr11:5226414 [GRCh38]
Chr11:5247644 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+144T>G single nucleotide variant not provided [RCV003711417] Chr11:5226433 [GRCh38]
Chr11:5247663 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+409A>G single nucleotide variant not provided [RCV003711451] Chr11:5226168 [GRCh38]
Chr11:5247398 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+375C>T single nucleotide variant not provided [RCV003562126] Chr11:5226202 [GRCh38]
Chr11:5247432 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-36C>T single nucleotide variant not provided [RCV003685735] Chr11:5226835 [GRCh38]
Chr11:5248065 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+124G>C single nucleotide variant not provided [RCV003678572] Chr11:5226453 [GRCh38]
Chr11:5247683 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+169A>C single nucleotide variant not provided [RCV003680454] Chr11:5226408 [GRCh38]
Chr11:5247638 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.323G>A (p.Gly108Asp) single nucleotide variant not provided [RCV003557551] Chr11:5225719 [GRCh38]
Chr11:5246949 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.316-412A>G single nucleotide variant not provided [RCV003818512] Chr11:5226138 [GRCh38]
Chr11:5247368 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+19T>G single nucleotide variant not provided [RCV003563737] Chr11:5226558 [GRCh38]
Chr11:5247788 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-357T>G single nucleotide variant not provided [RCV003710245] Chr11:5226083 [GRCh38]
Chr11:5247313 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-9dup duplication not provided [RCV003681024] Chr11:5226807..5226808 [GRCh38]
Chr11:5248037..5248038 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+214C>T single nucleotide variant not provided [RCV003684380] Chr11:5226363 [GRCh38]
Chr11:5247593 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+105C>A single nucleotide variant not provided [RCV003707101] Chr11:5226472 [GRCh38]
Chr11:5247702 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-50G>C single nucleotide variant not provided [RCV003685613] Chr11:5225776 [GRCh38]
Chr11:5247006 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-155T>G single nucleotide variant not provided [RCV003678204] Chr11:5225881 [GRCh38]
Chr11:5247111 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+110G>C single nucleotide variant not provided [RCV003542852] Chr11:5226467 [GRCh38]
Chr11:5247697 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-55G>C single nucleotide variant not provided [RCV003707785] Chr11:5226854 [GRCh38]
Chr11:5248084 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-117C>T single nucleotide variant not provided [RCV003678735] Chr11:5225843 [GRCh38]
Chr11:5247073 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+264C>T single nucleotide variant not provided [RCV003678165] Chr11:5226313 [GRCh38]
Chr11:5247543 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-118G>T single nucleotide variant not provided [RCV003678822] Chr11:5225844 [GRCh38]
Chr11:5247074 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.93-41A>G single nucleotide variant not provided [RCV003674803] Chr11:5226840 [GRCh38]
Chr11:5248070 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+23G>A single nucleotide variant not provided [RCV003706681] Chr11:5226554 [GRCh38]
Chr11:5247784 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-142A>G single nucleotide variant not provided [RCV003678494] Chr11:5225868 [GRCh38]
Chr11:5247098 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+325T>A single nucleotide variant not provided [RCV003678560] Chr11:5226252 [GRCh38]
Chr11:5247482 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-127C>T single nucleotide variant not provided [RCV003676441] Chr11:5225853 [GRCh38]
Chr11:5247083 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.339T>C (p.Cys113=) single nucleotide variant not provided [RCV003709744] Chr11:5225703 [GRCh38]
Chr11:5246933 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+199_315+201del deletion not provided [RCV003565305] Chr11:5226376..5226378 [GRCh38]
Chr11:5247606..5247608 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+140A>T single nucleotide variant not provided [RCV003708948] Chr11:5226437 [GRCh38]
Chr11:5247667 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.19del (p.Glu7fs) deletion Hemoglobinopathy [RCV003994949] Chr11:5227003 [GRCh38]
Chr11:5248233 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.4(HBB):c.-124A>T single nucleotide variant Beta-thalassemia HBB/LCRB [RCV004527281] Chr11:5227145 [GRCh38]
Chr11:5248375 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5227091C>T single nucleotide variant HBB-related disorder [RCV004545571] Chr11:5227091 [GRCh38]
Chr11:5248321 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.-6G>C single nucleotide variant not specified [RCV004526450] Chr11:5227027 [GRCh38]
Chr11:5248257 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.412G>A (p.Val138Met) single nucleotide variant not provided [RCV003993251] Chr11:5225630 [GRCh38]
Chr11:5246860 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.385G>A (p.Ala129Thr) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV004547426] Chr11:5225657 [GRCh38]
Chr11:5246887 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.327C>G (p.Asn109Lys) single nucleotide variant Dominant beta-thalassemia [RCV005051468]|beta Thalassemia [RCV004690867]|not provided [RCV005000574] Chr11:5225715 [GRCh38]
Chr11:5246945 [GRCh37]
Chr11:11p15.4
likely pathogenic
NC_000011.9:g.(?_5246486)_(5247105_?)del deletion not provided [RCV004580321] Chr11:5246486..5247105 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.9:g.(?_5246696)_(5248301_?)del deletion not provided [RCV004580319] Chr11:5246696..5248301 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.9:g.(?_5247800)_(5255213_?)del deletion not provided [RCV004580320] Chr11:5247800..5255213 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.43C>G (p.Leu15Val) single nucleotide variant not specified [RCV004691040] Chr11:5226979 [GRCh38]
Chr11:5248209 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.400G>T (p.Val134Leu) single nucleotide variant Dominant beta-thalassemia [RCV005051456]|not specified [RCV004586247] Chr11:5225642 [GRCh38]
Chr11:5246872 [GRCh37]
Chr11:11p15.4
uncertain significance
Single allele deletion Beta-thalassemia HBB/LCRB [RCV004595718] Chr11:5223699..5250078 [GRCh38]
Chr11:11p15.4
pathogenic
Single allele deletion Beta-thalassemia HBB/LCRB [RCV004595719] Chr11:5225911..5235201 [GRCh38]
Chr11:11p15.4
pathogenic
Single allele deletion Beta-thalassemia HBB/LCRB [RCV004595720] Chr11:5225911..5243699 [GRCh38]
Chr11:11p15.4
pathogenic
Single allele deletion Beta-thalassemia HBB/LCRB [RCV004595722] Chr11:5223780..5304186 [GRCh38]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.*1G>A single nucleotide variant not specified [RCV004690537] Chr11:5225597 [GRCh38]
Chr11:5246827 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.161C>T (p.Ala54Val) single nucleotide variant Beta-thalassemia HBB/LCRB [RCV004689558]|not specified [RCV005419771] Chr11:5226731 [GRCh38]
Chr11:5247961 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000518.5(HBB):c.209G>C (p.Gly70Ala) single nucleotide variant not specified [RCV004766491] Chr11:5226683 [GRCh38]
Chr11:5247913 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-1C>T single nucleotide variant not provided [RCV004770836] Chr11:5227022 [GRCh38]
Chr11:5248252 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.85C>G (p.Leu29Val) single nucleotide variant not specified [RCV004703017] Chr11:5226937 [GRCh38]
Chr11:5248167 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*129T>C single nucleotide variant Dominant beta-thalassemia [RCV005050234] Chr11:5225469 [GRCh38]
Chr11:5246699 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*15T>C single nucleotide variant Dominant beta-thalassemia [RCV005050235] Chr11:5225583 [GRCh38]
Chr11:5246813 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.-175G>A single nucleotide variant Dominant beta-thalassemia [RCV005050242] Chr11:5227196 [GRCh38]
Chr11:5248426 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-64G>A single nucleotide variant not provided [RCV004997912] Chr11:5227085 [GRCh38]
Chr11:5248315 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.388G>A (p.Ala130Thr) single nucleotide variant Dominant beta-thalassemia [RCV005050237] Chr11:5225654 [GRCh38]
Chr11:5246884 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.160G>A (p.Ala54Thr) single nucleotide variant Dominant beta-thalassemia [RCV005050240] Chr11:5226732 [GRCh38]
Chr11:5247962 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.15T>A (p.Thr5=) single nucleotide variant not provided [RCV004997909] Chr11:5227007 [GRCh38]
Chr11:5248237 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-133_-132insCCACAGCCTAG insertion not provided [RCV004997915] Chr11:5227153..5227154 [GRCh38]
Chr11:5248383..5248384 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.4(HBB):c.-140C>A single nucleotide variant not provided [RCV004997916] Chr11:5227161 [GRCh38]
Chr11:5248391 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.126_129dup (p.Glu44delinsLeuTer) duplication not provided [RCV004997907] Chr11:5226762..5226763 [GRCh38]
Chr11:5247992..5247993 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.332T>A (p.Leu111Gln) single nucleotide variant not provided [RCV004997910] Chr11:5225710 [GRCh38]
Chr11:5246940 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.130G>A (p.Glu44Lys) single nucleotide variant not provided [RCV004997908] Chr11:5226762 [GRCh38]
Chr11:5247992 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.363dup (p.Glu122fs) duplication not provided [RCV004997911] Chr11:5225678..5225679 [GRCh38]
Chr11:5246908..5246909 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.*131G>A single nucleotide variant not provided [RCV004997913] Chr11:5225467 [GRCh38]
Chr11:5246697 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-133A>T single nucleotide variant not provided [RCV004997917] Chr11:5225859 [GRCh38]
Chr11:5247089 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-97T>G single nucleotide variant not provided [RCV004997914] Chr11:5225823 [GRCh38]
Chr11:5247053 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.*97G>A single nucleotide variant not provided [RCV004997918] Chr11:5225501 [GRCh38]
Chr11:5246731 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:5183175-5262245)x1 copy number loss not provided [RCV004819836] Chr11:5183175..5262245 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-193A>C single nucleotide variant not provided [RCV005122800] Chr11:5225919 [GRCh38]
Chr11:5247149 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+370A>G single nucleotide variant not provided [RCV005117419] Chr11:5226207 [GRCh38]
Chr11:5247437 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.186G>A (p.Lys62=) single nucleotide variant not provided [RCV005124034] Chr11:5226706 [GRCh38]
Chr11:5247936 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+13G>C single nucleotide variant not provided [RCV005120976] Chr11:5226564 [GRCh38]
Chr11:5247794 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-180C>A single nucleotide variant not provided [RCV005117460]|not specified [RCV005241101] Chr11:5225906 [GRCh38]
Chr11:5247136 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+297C>T single nucleotide variant not provided [RCV005120216] Chr11:5226280 [GRCh38]
Chr11:5247510 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+328T>C single nucleotide variant not provided [RCV005111263] Chr11:5226249 [GRCh38]
Chr11:5247479 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.207C>A (p.Leu69=) single nucleotide variant not provided [RCV005086875]|not specified [RCV005241094] Chr11:5226685 [GRCh38]
Chr11:5247915 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5168748_5240702del deletion Beta-thalassemia HBB/LCRB [RCV005088640] Chr11:5168748..5240702 [GRCh38]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.14C>A (p.Thr5Asn) single nucleotide variant not specified [RCV005087727] Chr11:5227008 [GRCh38]
Chr11:5248238 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-97T>C single nucleotide variant not provided [RCV005114571] Chr11:5225823 [GRCh38]
Chr11:5247053 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-136T>C single nucleotide variant not provided [RCV005117668] Chr11:5225862 [GRCh38]
Chr11:5247092 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+203T>G single nucleotide variant not provided [RCV005111144] Chr11:5226374 [GRCh38]
Chr11:5247604 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.-155C>T single nucleotide variant not specified [RCV005239794] Chr11:5227176 [GRCh38]
Chr11:5248406 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.348_349delinsG (p.His117fs) indel beta Thalassemia [RCV005240005] Chr11:5225693..5225694 [GRCh38]
Chr11:5246923..5246924 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.-19G>C single nucleotide variant not specified [RCV005238377] Chr11:5227040 [GRCh38]
Chr11:5248270 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.419A>T (p.Asn140Ile) single nucleotide variant not provided [RCV005233122] Chr11:5225623 [GRCh38]
Chr11:5246853 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5225255_5225875del deletion beta Thalassemia [RCV005239771] Chr11:5225255..5225875 [GRCh38]
Chr11:5246485..5247105 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.9:g.(?_5246693)_(5248302_?)del deletion beta Thalassemia [RCV005241174] Chr11:5246693..5248302 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.294C>A (p.His98Gln) single nucleotide variant not provided [RCV005234182] Chr11:5226598 [GRCh38]
Chr11:5247828 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+1_315+2insACGTTCTC insertion not provided [RCV005234183] Chr11:5226575..5226576 [GRCh38]
Chr11:5247805..5247806 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.20_21del (p.Glu7fs) deletion not provided [RCV005234381] Chr11:5227001..5227002 [GRCh38]
Chr11:5248231..5248232 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.92G>T (p.Arg31Met) single nucleotide variant not provided [RCV005234622] Chr11:5226930 [GRCh38]
Chr11:5248160 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000518.5(HBB):c.82_83delinsTT (p.Ala28Phe) indel not provided [RCV005234733] Chr11:5226939..5226940 [GRCh38]
Chr11:5248169..5248170 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.316-372A>G single nucleotide variant not provided [RCV005173730] Chr11:5226098 [GRCh38]
Chr11:5247328 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.316-425A>C single nucleotide variant not provided [RCV005078089] Chr11:5226151 [GRCh38]
Chr11:5247381 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+71G>C single nucleotide variant not provided [RCV005183276] Chr11:5226506 [GRCh38]
Chr11:5247736 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.5226995_5227540delinsTGAAAACTCTACCTCA indel not provided [RCV005124169] Chr11:5226995..5227540 [GRCh38]
Chr11:5248225..5248770 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.315+354_315+357del deletion not provided [RCV005150253] Chr11:5226220..5226223 [GRCh38]
Chr11:5247450..5247453 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.315+407A>G single nucleotide variant not provided [RCV005151347] Chr11:5226170 [GRCh38]
Chr11:5247400 [GRCh37]
Chr11:11p15.4
likely benign
NM_000518.5(HBB):c.105_106insCTAC (p.Tyr36fs) insertion Beta-thalassemia HBB/LCRB [RCV005368257] Chr11:5226786..5226787 [GRCh38]
Chr11:5248016..5248017 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000518.5(HBB):c.299_315dup (p.Leu106fs) duplication Beta-thalassemia HBB/LCRB [RCV005368259] Chr11:5226576..5226577 [GRCh38]
Chr11:5247806..5247807 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.10:g.5225284C>T single nucleotide variant Erythrocytosis, familial, 6 [RCV005361680]|Thalassemia [RCV001838687] Chr11:5225284 [GRCh38]
Chr11:5246514 [GRCh37]
Chr11:11p15.4
risk factor|uncertain significance
NM_000518.5(HBB):c.347C>T (p.Ala116Val) single nucleotide variant not specified [RCV005418921] Chr11:5225695 [GRCh38]
Chr11:5246925 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.211G>C (p.Ala71Pro) single nucleotide variant not specified [RCV005408487] Chr11:5226681 [GRCh38]
Chr11:5247911 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000518.5(HBB):c.235C>G (p.Leu79Val) single nucleotide variant not specified [RCV005409118] Chr11:5226657 [GRCh38]
Chr11:5247887 [GRCh37]
Chr11:11p15.4
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:566
Count of miRNA genes:417
Interacting mature miRNAs:448
Transcripts:ENST00000335295, ENST00000380315, ENST00000475226, ENST00000485743
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
597592479GWAS1649339_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649339 (human)2e-14blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1152270025227003Human
597070484GWAS1166558_Hhematocrit QTL GWAS1166558 (human)1e-10erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597118356GWAS1214430_Herythrocyte count QTL GWAS1214430 (human)2e-15erythrocyte countred blood cell count (CMO:0000025)1152267745226775Human
597580957GWAS1637817_Hlymphocyte count QTL GWAS1637817 (human)2e-68lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597598107GWAS1654967_Hlymphocyte count QTL GWAS1654967 (human)4e-49lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597603734GWAS1660594_Hneutrophil count QTL GWAS1660594 (human)2e-26neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270025227003Human
597612436GWAS1669296_Herythrocyte count QTL GWAS1669296 (human)1e-175erythrocyte countred blood cell count (CMO:0000025)1152267745226775Human
406988873GWAS637849_Hmean corpuscular hemoglobin concentration QTL GWAS637849 (human)1e-12erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152255025225503Human
597588626GWAS1645486_Hanemia (phenotype) QTL GWAS1645486 (human)1e-15anemia (phenotype)1152267745226775Human
597614227GWAS1671087_Hsodium measurement QTL GWAS1671087 (human)8e-78blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597608080GWAS1664940_Hgout QTL GWAS1664940 (human)9e-19joint integrity trait (VT:0010548)1152270025227003Human
597580942GWAS1637802_Hlymphocyte count QTL GWAS1637802 (human)1e-61lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
596975751GWAS1095270_HRed cell distribution width QTL GWAS1095270 (human)3e-10Red cell distribution width1152270035227004Human
597578893GWAS1635753_Hhematocrit QTL GWAS1635753 (human)2e-103erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597050498GWAS1146572_Hmean corpuscular hemoglobin concentration QTL GWAS1146572 (human)5e-25erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270035227004Human
597339276GWAS1435350_Htotal cholesterol measurement QTL GWAS1435350 (human)5e-09blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152270035227004Human
597580169GWAS1637029_Hlymphocyte count QTL GWAS1637029 (human)1e-51lymphocyte quantity (VT:0000717)blood neutrophil count (CMO:0000030)1152270025227003Human
597096079GWAS1192153_Hlow density lipoprotein cholesterol measurement QTL GWAS1192153 (human)6e-22blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)1152267745226775Human
597283968GWAS1380042_Hpneumonia QTL GWAS1380042 (human)0.0000002lung integrity trait (VT:0010906)1152270035227004Human
597593988GWAS1650848_Hhematocrit QTL GWAS1650848 (human)1e-131erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152267745226775Human
597598597GWAS1655457_HHbA1c measurement QTL GWAS1655457 (human)1e-73blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597594242GWAS1651102_Hhematocrit QTL GWAS1651102 (human)9e-131erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597580675GWAS1637535_HIron deficiency anemia QTL GWAS1637535 (human)2e-12blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597588926GWAS1645786_Hfamilial hemolytic anemia QTL GWAS1645786 (human)1e-323familial hemolytic anemia1152270025227003Human
597611198GWAS1668058_Hneutrophil count QTL GWAS1668058 (human)2e-12neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270035227004Human
597588927GWAS1645787_Hfamilial hemolytic anemia QTL GWAS1645787 (human)6e-224familial hemolytic anemia1152267745226775Human
597047220GWAS1143294_Herythrocyte count QTL GWAS1143294 (human)4e-12erythrocyte countred blood cell count (CMO:0000025)1152270035227004Human
597598648GWAS1655508_HHbA1c measurement QTL GWAS1655508 (human)1e-55blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597047217GWAS1143291_Herythrocyte count QTL GWAS1143291 (human)0.000006erythrocyte countred blood cell count (CMO:0000025)1152270035227004Human
597160624GWAS1256698_Herythrocyte count QTL GWAS1256698 (human)2e-22erythrocyte countred blood cell count (CMO:0000025)1152270035227004Human
596951485GWAS1071004_HHbA1c measurement QTL GWAS1071004 (human)4e-10HbA1c measurement1152267995226800Human
597103294GWAS1199368_HRed cell distribution width QTL GWAS1199368 (human)6e-17erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152270025227003Human
597593012GWAS1649872_Hplatelet count QTL GWAS1649872 (human)1e-36platelet quantity (VT:0003179)platelet count (CMO:0000029)1152270025227003Human
597579954GWAS1636814_Hhigh density lipoprotein cholesterol measurement QTL GWAS1636814 (human)2e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1152270025227003Human
597109691GWAS1205765_HHbA1c measurement QTL GWAS1205765 (human)3e-39blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
407011695GWAS660671_Hmean corpuscular hemoglobin QTL GWAS660671 (human)2e-09erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)1152255025225503Human
597578673GWAS1635533_Hhemoglobin measurement QTL GWAS1635533 (human)1e-102blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597591985GWAS1648845_Hplatelet count QTL GWAS1648845 (human)4e-26platelet quantity (VT:0003179)platelet count (CMO:0000029)1152270025227003Human
597160103GWAS1256177_Hmean corpuscular hemoglobin concentration QTL GWAS1256177 (human)1e-23erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152267745226775Human
597070502GWAS1166576_Hmean corpuscular hemoglobin concentration QTL GWAS1166576 (human)7e-24erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270035227004Human
597589422GWAS1646282_Hmonocyte count QTL GWAS1646282 (human)3e-18monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1152270035227004Human
597597357GWAS1654217_Hlymphocyte count QTL GWAS1654217 (human)5e-80lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597591213GWAS1648073_Hneutrophil count QTL GWAS1648073 (human)1e-46neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270025227003Human
597607082GWAS1663942_Hsodium measurement QTL GWAS1663942 (human)2e-88blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597603243GWAS1660103_Hmonocyte count QTL GWAS1660103 (human)4e-22monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1152270035227004Human
597606312GWAS1663172_HIron deficiency anemia QTL GWAS1663172 (human)3e-18mean corpuscular volume1152267745226775Human
597613992GWAS1670852_Hsodium measurement QTL GWAS1670852 (human)1e-33blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597610920GWAS1667780_Hneutrophil count QTL GWAS1667780 (human)1e-26neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270025227003Human
597329580GWAS1425654_Hpotassium measurement QTL GWAS1425654 (human)3e-32blood potassium amount (VT:0002668)blood potassium level (CMO:0000496)1152270025227003Human
597120928GWAS1217002_HRed cell distribution width QTL GWAS1217002 (human)2e-13erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152267745226775Human
597329581GWAS1425655_Hsodium measurement QTL GWAS1425655 (human)5e-36blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597580454GWAS1637314_Hgout QTL GWAS1637314 (human)1e-27joint integrity trait (VT:0010548)1152270025227003Human
597615266GWAS1672126_HRed cell distribution width QTL GWAS1672126 (human)6e-181erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152267745226775Human
597616802GWAS1673662_Hplatelet count QTL GWAS1673662 (human)6e-30platelet quantity (VT:0003179)platelet count (CMO:0000029)1152270025227003Human
597160619GWAS1256693_Hmean corpuscular hemoglobin concentration QTL GWAS1256693 (human)4e-43erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270035227004Human
597613985GWAS1670845_Hsodium measurement QTL GWAS1670845 (human)1e-63blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597251800GWAS1347874_HHbA1c measurement QTL GWAS1347874 (human)4e-10blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152267995226800Human
597620703GWAS1677563_Hpulmonary embolism, Pulmonary Infarction QTL GWAS1677563 (human)9e-12pulmonary embolism, Pulmonary Infarction1152270025227003Human
597272794GWAS1368868_Htotal cholesterol measurement QTL GWAS1368868 (human)7e-28blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152267745226775Human
597589722GWAS1646582_Htype 2 diabetes nephropathy QTL GWAS1646582 (human)6e-14type 2 diabetes nephropathy1152270025227003Human
597595611GWAS1652471_HHypercholesterolemia QTL GWAS1652471 (human)4e-13blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152267745226775Human
597579737GWAS1636597_Htype 2 diabetes nephropathy QTL GWAS1636597 (human)1e-12erythrocyte hemoglobin amount (VT:0010953)platelet count (CMO:0000029)1152270025227003Human
597616084GWAS1672944_Hchronic kidney disease QTL GWAS1672944 (human)9e-31kidney integrity trait (VT:0010580)1152270025227003Human
597613266GWAS1670126_HRed cell distribution width QTL GWAS1670126 (human)2e-240erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152267745226775Human
406966541GWAS615517_Hurinary albumin to creatinine ratio QTL GWAS615517 (human)3e-10urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)1152270025227003Human
406966540GWAS615516_Hurinary albumin to creatinine ratio QTL GWAS615516 (human)8e-12urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)1152270025227003Human
597608147GWAS1665007_Hgout QTL GWAS1665007 (human)4e-31joint integrity trait (VT:0010548)1152270025227003Human
597610960GWAS1667820_Hneutrophil count QTL GWAS1667820 (human)4e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270035227004Human
597611980GWAS1668840_Hplatelet count QTL GWAS1668840 (human)7e-22platelet quantity (VT:0003179)platelet count (CMO:0000029)1152270025227003Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
597616074GWAS1672934_Hmean corpuscular hemoglobin concentration QTL GWAS1672934 (human)2e-170erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152267745226775Human
597022913GWAS1118987_Hmalaria QTL GWAS1118987 (human)9e-13response to parasitic infection trait (VT:0010437)1152270025227003Human
597267660GWAS1363734_Hmetabolite measurement QTL GWAS1363734 (human)4e-11metabolite measurement1152270025227003Human
597588683GWAS1645543_Hanemia, chronic kidney disease QTL GWAS1645543 (human)2e-11kidney integrity trait (VT:0010580)1152270025227003Human
597598921GWAS1655781_HHbA1c measurement QTL GWAS1655781 (human)8e-43blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597613254GWAS1670114_Hplatelet count QTL GWAS1670114 (human)3e-31platelet quantity (VT:0003179)platelet count (CMO:0000029)1152270025227003Human
596956620GWAS1076139_HRed cell distribution width QTL GWAS1076139 (human)2e-08Red cell distribution width1152270035227004Human
407376147GWAS1025123_Hobsolete_red blood cell distribution width QTL GWAS1025123 (human)2e-17obsolete_red blood cell distribution width1152270025227003Human
597597381GWAS1654241_Hlymphocyte count QTL GWAS1654241 (human)8e-83lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597579717GWAS1636577_Hhigh density lipoprotein cholesterol measurement QTL GWAS1636577 (human)7e-13blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1152270025227003Human
597162444GWAS1258518_HRed cell distribution width QTL GWAS1258518 (human)3e-10erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152270035227004Human
597594050GWAS1650910_Hhematocrit QTL GWAS1650910 (human)7e-90erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152267745226775Human
407087647GWAS736623_Hneutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, obsolete_red blood cell distribution width, basophil count, platelet count, eosinophil count QTL GWAS736623 (human)5e-20neutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, obsolete_red blood cell distribution width, basophil count, platelet count, eosinophil count1152270025227003Human
596950216GWAS1069735_Hpneumonia QTL GWAS1069735 (human)5e-19pneumonia1152270025227003Human
597588675GWAS1645535_Hanemia (phenotype) QTL GWAS1645535 (human)3e-31anemia (phenotype)1152267745226775Human
597591235GWAS1648095_HMicroscopic hematuria QTL GWAS1648095 (human)1e-11Microscopic hematuria1152270025227003Human
596950217GWAS1069736_Hpneumonia QTL GWAS1069736 (human)0.0000002pneumonia1152270035227004Human
597161162GWAS1257236_Hmean corpuscular hemoglobin QTL GWAS1257236 (human)1e-23erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)1152270035227004Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human
597038537GWAS1134611_Hhematocrit QTL GWAS1134611 (human)9e-10erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152267745226775Human
407087388GWAS736364_Hobsolete_red blood cell distribution width QTL GWAS736364 (human)6e-17obsolete_red blood cell distribution width1152270025227003Human
597206727GWAS1302801_Hurate measurement QTL GWAS1302801 (human)5e-15urate measurementblood uric acid level (CMO:0000501)1152270025227003Human
407163940GWAS812916_Hobsolete_red blood cell distribution width QTL GWAS812916 (human)3e-10obsolete_red blood cell distribution width1152270035227004Human
407072548GWAS721524_Hurinary albumin to creatinine ratio QTL GWAS721524 (human)6e-08urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)1152270025227003Human
597096959GWAS1193033_Htotal cholesterol measurement QTL GWAS1193033 (human)5e-23blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152267745226775Human
597613045GWAS1669905_HRed cell distribution width QTL GWAS1669905 (human)6e-118erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152267745226775Human
407218485GWAS867461_Hlymphocyte count QTL GWAS867461 (human)5e-17lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597586670GWAS1643530_Hneutrophil count QTL GWAS1643530 (human)3e-51neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270025227003Human
597605615GWAS1662475_HHbA1c measurement QTL GWAS1662475 (human)2e-49blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597594093GWAS1650953_Hhematocrit QTL GWAS1650953 (human)6e-80erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597038563GWAS1134637_Hhemoglobin measurement QTL GWAS1134637 (human)2e-12familial hemolytic anemia1152267745226775Human
406996788GWAS645764_Hmean corpuscular hemoglobin concentration QTL GWAS645764 (human)1e-18erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270025227003Human
597295853GWAS1391927_HHbA1c measurement QTL GWAS1391927 (human)2e-33blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597607143GWAS1664003_Htotal cholesterol measurement QTL GWAS1664003 (human)5e-13blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152267745226775Human
597050607GWAS1146681_Hmean corpuscular hemoglobin concentration QTL GWAS1146681 (human)6e-49erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270035227004Human
407213118GWAS862094_Hmean corpuscular hemoglobin concentration QTL GWAS862094 (human)5e-28erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270035227004Human
597047277GWAS1143351_Herythrocyte count QTL GWAS1143351 (human)0.0000003erythrocyte countred blood cell count (CMO:0000025)1152270035227004Human
407252281GWAS901257_Hlymphocyte count QTL GWAS901257 (human)1e-19lymphocyte count1152270025227003Human
597591071GWAS1647931_Hchronic kidney disease QTL GWAS1647931 (human)1e-14kidney integrity trait (VT:0010580)1152270025227003Human
597579039GWAS1635899_Hgout QTL GWAS1635899 (human)2e-27joint integrity trait (VT:0010548)1152270025227003Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
597048594GWAS1144668_Hmean corpuscular hemoglobin QTL GWAS1144668 (human)2e-15erythrocyte hemoglobin amount (VT:0010953)blood neutrophil count (CMO:0000030)1152270035227004Human
597580059GWAS1636919_Hlymphocyte count QTL GWAS1636919 (human)3e-49lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597098769GWAS1194843_Hmalaria QTL GWAS1194843 (human)4e-69response to parasitic infection trait (VT:0010437)1152270025227003Human
597224208GWAS1320282_Hhemolysis QTL GWAS1320282 (human)4e-10blood integrity trait (VT:0010779)1152270025227003Human
597607186GWAS1664046_Hsodium measurement QTL GWAS1664046 (human)2e-37blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597595152GWAS1652012_Hhigh density lipoprotein cholesterol measurement QTL GWAS1652012 (human)1e-13blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1152270025227003Human
597098777GWAS1194851_Hmalaria QTL GWAS1194851 (human)2e-67response to parasitic infection trait (VT:0010437)1152270025227003Human
597258761GWAS1354835_Htotal cholesterol measurement QTL GWAS1354835 (human)5e-10blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152270035227004Human
406958295GWAS607271_Hobsolete_red blood cell distribution width QTL GWAS607271 (human)2e-08obsolete_red blood cell distribution width1152270035227004Human
597595145GWAS1652005_Hhematocrit QTL GWAS1652005 (human)2e-113erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597578756GWAS1635616_Hhematocrit QTL GWAS1635616 (human)8e-76erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597603589GWAS1660449_Hneutrophil count QTL GWAS1660449 (human)2e-19neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270035227004Human
597606658GWAS1663518_Herythrocyte count QTL GWAS1663518 (human)4e-251erythrocyte countred blood cell count (CMO:0000025)1152267745226775Human
597593090GWAS1649950_Hplatelet count QTL GWAS1649950 (human)3e-36platelet quantity (VT:0003179)platelet count (CMO:0000029)1152270025227003Human
597239044GWAS1335118_Hurinary albumin to creatinine ratio QTL GWAS1335118 (human)8e-11urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)1152270025227003Human
597590531GWAS1647391_Hanemia, chronic kidney disease QTL GWAS1647391 (human)4e-13kidney integrity trait (VT:0010580)1152270025227003Human
597044489GWAS1140563_HRed cell distribution width QTL GWAS1140563 (human)2e-17joint integrity trait (VT:0010548)red blood cell distribution width- standard deviation (CMO:0003232)1152270025227003Human
597597758GWAS1654618_Hhemoglobin measurement QTL GWAS1654618 (human)2e-77blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597611581GWAS1668441_Hmean corpuscular hemoglobin concentration QTL GWAS1668441 (human)7e-280erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152267745226775Human
407086822GWAS735798_Hneutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, obsolete_red blood cell distribution width, basophil count, platelet count, eosinophil count QTL GWAS735798 (human)1e-12neutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, obsolete_red blood cell distribution width, basophil count, platelet count, eosinophil count1152270025227003Human
597581111GWAS1637971_Hlymphocyte count QTL GWAS1637971 (human)6e-46lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597597492GWAS1654352_Hhemoglobin measurement QTL GWAS1654352 (human)3e-230blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597617205GWAS1674065_Herythrocyte count QTL GWAS1674065 (human)5e-248erythrocyte countred blood cell count (CMO:0000025)1152267745226775Human
597113915GWAS1209989_Hmean corpuscular hemoglobin concentration QTL GWAS1209989 (human)8e-26mean corpuscular hemoglobin concentration1152270025227003Human
597610803GWAS1667663_Hneutrophil count QTL GWAS1667663 (human)5e-48neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1152270025227003Human
597592366GWAS1649226_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649226 (human)3e-15blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1152270025227003Human
597580591GWAS1637451_Hlymphocyte count QTL GWAS1637451 (human)9e-72lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597257514GWAS1353588_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1353588 (human)7e-19blood non-HDL cholesterol amount (VT:0010474)blood non-high density lipoprotein cholesterol level (CMO:0003967)1152267745226775Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
597615400GWAS1672260_Hkidney failure QTL GWAS1672260 (human)4e-25kidney failure1152270025227003Human
597305133GWAS1401207_Hlymphocyte count QTL GWAS1401207 (human)2e-19lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
596979757GWAS1099276_Hneutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, basophil count, platelet count, eosinophil count QTL GWAS1099276 (human)5e-20neutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, basophil count, platelet count, eosinophil count1152270025227003Human
597613862GWAS1670722_Hgout QTL GWAS1670722 (human)3e-22joint integrity trait (VT:0010548)1152270025227003Human
597294371GWAS1390445_Hlymphocyte count QTL GWAS1390445 (human)3e-13lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597594661GWAS1651521_Hhematocrit QTL GWAS1651521 (human)2e-48erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152267745226775Human
597590821GWAS1647681_Hkidney failure QTL GWAS1647681 (human)1e-17kidney failure1152270025227003Human
596979755GWAS1099274_HRed cell distribution width QTL GWAS1099274 (human)6e-17Red cell distribution width1152270025227003Human
597050453GWAS1146527_Hmean corpuscular hemoglobin concentration QTL GWAS1146527 (human)2e-31erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270035227004Human
597590874GWAS1647734_Hchronic kidney disease QTL GWAS1647734 (human)8e-26erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152270025227003Human
597257052GWAS1353126_Htotal cholesterol measurement QTL GWAS1353126 (human)2e-32blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1152267745226775Human
597607515GWAS1664375_HHbA1c measurement QTL GWAS1664375 (human)9e-85blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
596983379GWAS1102898_Htelomere length QTL GWAS1102898 (human)4e-61telomere length1152265615226562Human
597598804GWAS1655664_Hhemoglobin measurement QTL GWAS1655664 (human)7e-145blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597293907GWAS1389981_HHbA1c measurement QTL GWAS1389981 (human)2e-24blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597588818GWAS1645678_HIron deficiency anemia QTL GWAS1645678 (human)8e-12Iron deficiency anemia1152267745226775Human
597578320GWAS1635180_Hhemoglobin measurement QTL GWAS1635180 (human)4e-61blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597099097GWAS1195171_Hmalaria QTL GWAS1195171 (human)1e-55malaria1152270025227003Human
597245270GWAS1341344_HHbA1c measurement QTL GWAS1341344 (human)4e-09blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152259115225912Human
597612113GWAS1668973_Herythrocyte count QTL GWAS1668973 (human)4e-235erythrocyte countred blood cell count (CMO:0000025)1152267745226775Human
596981061GWAS1100580_Htelomere length QTL GWAS1100580 (human)7e-22telomere length1152259115225912Human
597047110GWAS1143184_HRed cell distribution width QTL GWAS1143184 (human)2e-08erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152270035227004Human
597604170GWAS1661030_HRed cell distribution width QTL GWAS1661030 (human)2e-167erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152267745226775Human
597293901GWAS1389975_HHbA1c measurement QTL GWAS1389975 (human)5e-13blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597597257GWAS1654117_Hlymphocyte count QTL GWAS1654117 (human)2e-52lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597603910GWAS1660770_HRed cell distribution width QTL GWAS1660770 (human)2e-305erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)1152267745226775Human
596957517GWAS1077036_Hblood protein measurement QTL GWAS1077036 (human)2e-12familial hemolytic anemia1152267745226775Human
597588551GWAS1645411_Hhematocrit QTL GWAS1645411 (human)3e-118erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1152270025227003Human
597613127GWAS1669987_Hdrug use measurement, gout QTL GWAS1669987 (human)6e-20joint integrity trait (VT:0010548)1152270025227003Human
597583684GWAS1640544_Hmean corpuscular hemoglobin concentration QTL GWAS1640544 (human)1e-323erythrocyte hemoglobin amount (VT:0010953)red blood cell distribution width- standard deviation (CMO:0003232)1152267745226775Human
596979534GWAS1099053_Hneutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, basophil count, platelet count, eosinophil count QTL GWAS1099053 (human)1e-12neutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, basophil count, platelet count, eosinophil count1152270025227003Human
597048650GWAS1144724_Hmean corpuscular hemoglobin QTL GWAS1144724 (human)9e-11erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)1152270035227004Human
597597308GWAS1654168_Hlymphocyte count QTL GWAS1654168 (human)4e-53lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597581178GWAS1638038_Hmonocyte count QTL GWAS1638038 (human)7e-14monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1152270035227004Human
597283967GWAS1380041_Hpneumonia QTL GWAS1380041 (human)5e-19lung integrity trait (VT:0010906)1152270025227003Human
597589112GWAS1645972_Hmonocyte count QTL GWAS1645972 (human)4e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1152270035227004Human
597599865GWAS1656725_Hmean corpuscular hemoglobin concentration QTL GWAS1656725 (human)2e-269erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)1152267745226775Human
597114736GWAS1210810_HHbA1c measurement QTL GWAS1210810 (human)8e-27blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597588598GWAS1645458_Hinherited hemoglobinopathy QTL GWAS1645458 (human)9e-210inherited hemoglobinopathy1152267745226775Human
597579380GWAS1636240_Hhemoglobin measurement QTL GWAS1636240 (human)4e-151blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597115773GWAS1211847_Hhemoglobin measurement QTL GWAS1211847 (human)8e-11blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597590389GWAS1647249_Hanemia (phenotype) QTL GWAS1647249 (human)5e-32anemia (phenotype)1152267745226775Human
597606254GWAS1663114_HIron deficiency anemia QTL GWAS1663114 (human)2e-18Iron deficiency anemia1152267745226775Human
597585516GWAS1642376_Hhigh density lipoprotein cholesterol measurement QTL GWAS1642376 (human)2e-13blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1152270025227003Human
597608044GWAS1664904_Hsodium measurement QTL GWAS1664904 (human)4e-68blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)1152270025227003Human
597160803GWAS1256877_Hhemoglobin measurement QTL GWAS1256877 (human)3e-21blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1152267745226775Human
597594987GWAS1651847_Heosinophil count QTL GWAS1651847 (human)6e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1152270025227003Human
597597291GWAS1654151_Hlymphocyte count QTL GWAS1654151 (human)5e-66lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1152270025227003Human
597608546GWAS1665406_HHbA1c measurement QTL GWAS1665406 (human)3e-65blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)1152270025227003Human
597590883GWAS1647743_Hkidney failure QTL GWAS1647743 (human)2e-22kidney failure1152270025227003Human

Markers in Region
D11S1382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,109 - 5,248,301UniSTSGRCh37
Build 36115,204,685 - 5,204,877RGDNCBI36
Celera115,366,780 - 5,366,972RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,282 - 4,907,474UniSTS
GDB:177071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,848 - 5,248,383UniSTSGRCh37
Build 36115,204,424 - 5,204,959RGDNCBI36
Celera115,366,519 - 5,367,054RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,021 - 4,907,556UniSTS
GDB:177422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,269 - 5,248,430UniSTSGRCh37
Build 36115,204,845 - 5,205,006RGDNCBI36
Celera115,366,940 - 5,367,101RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,442 - 4,907,603UniSTS
GDB:177671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,043 - 5,248,341UniSTSGRCh37
Build 36115,204,619 - 5,204,917RGDNCBI36
Celera115,366,714 - 5,367,012RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,216 - 4,907,514UniSTS
GDB:177704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,956 - 5,248,064UniSTSGRCh37
Build 36115,204,532 - 5,204,640RGDNCBI36
Celera115,366,627 - 5,366,735RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,129 - 4,907,237UniSTS
GDB:178694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,983 - 5,248,288UniSTSGRCh37
Build 36115,204,559 - 5,204,864RGDNCBI36
Celera115,366,654 - 5,366,959RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,156 - 4,907,461UniSTS
GDB:181599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,718 - 5,248,115UniSTSGRCh37
Build 36115,204,294 - 5,204,691RGDNCBI36
Celera115,366,389 - 5,366,786RGD
Cytogenetic Map11p15.5UniSTS
GDB:196974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,669 - 5,248,467UniSTSGRCh37
Build 36115,204,245 - 5,205,043RGDNCBI36
Celera115,366,340 - 5,367,138RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,842 - 4,907,640UniSTS
GDB:269987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,179 - 5,248,446UniSTSGRCh37
Build 36115,204,755 - 5,205,022RGDNCBI36
Celera115,366,850 - 5,367,117RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,352 - 4,907,619UniSTS
GDB:599270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,974 - 5,247,206UniSTSGRCh37
Build 36115,203,550 - 5,203,782RGDNCBI36
Celera115,365,645 - 5,365,877RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,147 - 4,906,379UniSTS
GDB:632696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,928 - 5,248,430UniSTSGRCh37
Build 36115,203,504 - 5,205,006RGDNCBI36
Celera115,365,599 - 5,367,101RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,101 - 4,907,603UniSTS
PMC102046P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,914 - 5,248,014UniSTSGRCh37
Build 36115,204,490 - 5,204,590RGDNCBI36
Celera115,366,585 - 5,366,685RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,087 - 4,907,187UniSTS
PMC102168P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,253 - 5,248,596UniSTSGRCh37
Build 36115,204,829 - 5,205,172RGDNCBI36
Celera115,366,924 - 5,367,267RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,426 - 4,907,769UniSTS
PMC104188P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,843 - 5,248,300UniSTSGRCh37
Build 36115,204,419 - 5,204,876RGDNCBI36
Celera115,366,514 - 5,366,971RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,016 - 4,907,473UniSTS
PMC110379P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,179 - 5,248,288UniSTSGRCh37
Build 36115,204,755 - 5,204,864RGDNCBI36
Celera115,366,850 - 5,366,959RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,352 - 4,907,461UniSTS
PMC110716P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,702 - 5,248,141UniSTSGRCh37
Build 36115,204,278 - 5,204,717RGDNCBI36
Celera115,366,373 - 5,366,812RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,875 - 4,907,314UniSTS
PMC110756P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,698 - 5,248,144UniSTSGRCh37
Build 36115,204,274 - 5,204,720RGDNCBI36
Celera115,366,369 - 5,366,815RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,871 - 4,907,317UniSTS
PMC111966P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,553 - 5,246,791UniSTSGRCh37
Build 36115,203,129 - 5,203,367RGDNCBI36
Celera115,365,224 - 5,365,462RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,726 - 4,905,964UniSTS
PMC113011P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,122 - 5,248,383UniSTSGRCh37
Build 36115,204,698 - 5,204,959RGDNCBI36
Celera115,366,793 - 5,367,054RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,295 - 4,907,556UniSTS
PMC114582P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,255,599 - 5,255,681UniSTSGRCh37
GRCh37115,248,187 - 5,248,269UniSTSGRCh37
Build 36115,204,763 - 5,204,845RGDNCBI36
Celera115,366,858 - 5,366,940RGD
Celera115,374,271 - 5,374,353UniSTS
Cytogenetic Map11p15.5UniSTS
HuRef114,907,360 - 4,907,442UniSTS
HuRef114,914,773 - 4,914,855UniSTS
PMC115301P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,176 - 5,248,295UniSTSGRCh37
Build 36115,204,752 - 5,204,871RGDNCBI36
Celera115,366,847 - 5,366,966RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,349 - 4,907,468UniSTS
PMC120089P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,736 - 5,246,885UniSTSGRCh37
Build 36115,203,312 - 5,203,461RGDNCBI36
Celera115,365,407 - 5,365,556RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,909 - 4,906,058UniSTS
PMC126094P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,807 - 5,248,057UniSTSGRCh37
Build 36115,204,383 - 5,204,633RGDNCBI36
Celera115,366,478 - 5,366,728RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,980 - 4,907,230UniSTS
PMC133721P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,255,288 - 5,255,395UniSTSGRCh37
GRCh37115,247,874 - 5,247,981UniSTSGRCh37
Build 36115,204,450 - 5,204,557RGDNCBI36
Celera115,366,545 - 5,366,652RGD
Celera115,373,960 - 5,374,067UniSTS
Cytogenetic Map11p15.5UniSTS
HuRef114,907,047 - 4,907,154UniSTS
HuRef114,914,462 - 4,914,569UniSTS
PMC133732P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,225 - 5,247,493UniSTSGRCh37
Build 36115,203,801 - 5,204,069RGDNCBI36
Celera115,365,896 - 5,366,164RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,398 - 4,906,666UniSTS
PMC133948P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,800 - 5,248,348UniSTSGRCh37
Build 36115,204,376 - 5,204,924RGDNCBI36
Celera115,366,471 - 5,367,019RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,973 - 4,907,521UniSTS
PMC139788P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,546 - 5,246,971UniSTSGRCh37
Build 36115,203,122 - 5,203,547RGDNCBI36
Celera115,365,217 - 5,365,642RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,719 - 4,906,144UniSTS
PMC149569P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,943 - 5,248,456UniSTSGRCh37
Build 36115,204,519 - 5,205,032RGDNCBI36
Celera115,366,614 - 5,367,127RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,116 - 4,907,629UniSTS
PMC150227P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,178 - 5,248,498UniSTSGRCh37
Build 36115,204,754 - 5,205,074RGDNCBI36
Celera115,366,849 - 5,367,169RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,351 - 4,907,671UniSTS
PMC153763P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,118 - 5,248,462UniSTSGRCh37
Build 36115,204,694 - 5,205,038RGDNCBI36
Celera115,366,789 - 5,367,133RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,291 - 4,907,635UniSTS
PMC24545P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,897 - 5,248,430UniSTSGRCh37
Build 36115,204,473 - 5,205,006RGDNCBI36
Celera115,366,568 - 5,367,101RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,070 - 4,907,603UniSTS
PMC310725P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,845 - 5,248,109UniSTSGRCh37
Build 36115,204,421 - 5,204,685RGDNCBI36
Celera115,366,516 - 5,366,780RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,018 - 4,907,282UniSTS
PMC316536P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,216 - 5,248,596UniSTSGRCh37
Build 36115,204,792 - 5,205,172RGDNCBI36
Celera115,366,887 - 5,367,267RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,389 - 4,907,769UniSTS
PMC86017P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,841 - 5,248,236UniSTSGRCh37
Build 36115,204,417 - 5,204,812RGDNCBI36
Celera115,366,512 - 5,366,907RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,014 - 4,907,409UniSTS
PMC86017P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,841 - 5,248,596UniSTSGRCh37
Build 36115,204,417 - 5,205,172RGDNCBI36
Celera115,366,512 - 5,367,267RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,014 - 4,907,769UniSTS
PMC86017P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,216 - 5,248,982UniSTSGRCh37
Build 36115,204,792 - 5,205,558RGDNCBI36
Celera115,366,887 - 5,367,654RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,389 - 4,908,156UniSTS
PMC86017P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,575 - 5,248,982UniSTSGRCh37
Build 36115,205,151 - 5,205,558RGDNCBI36
Celera115,367,246 - 5,367,654RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,748 - 4,908,156UniSTS
PMC86936P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,263 - 5,248,381UniSTSGRCh37
Build 36115,204,839 - 5,204,957RGDNCBI36
Celera115,366,934 - 5,367,052RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,436 - 4,907,554UniSTS
PMC87307P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,696 - 5,246,827UniSTSGRCh37
Build 36115,203,272 - 5,203,403RGDNCBI36
Celera115,365,367 - 5,365,498RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,869 - 4,906,000UniSTS
PMC87731P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,182 - 5,248,427UniSTSGRCh37
Build 36115,204,758 - 5,205,003RGDNCBI36
Celera115,366,853 - 5,367,098RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,355 - 4,907,600UniSTS
PMC88635P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,079 - 5,248,288UniSTSGRCh37
Build 36115,204,655 - 5,204,864RGDNCBI36
Celera115,366,750 - 5,366,959RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,252 - 4,907,461UniSTS
PMC99844P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,179 - 5,248,271UniSTSGRCh37
Build 36115,204,755 - 5,204,847RGDNCBI36
Celera115,366,850 - 5,366,942RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,352 - 4,907,444UniSTS
ECD02553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,692 - 5,248,518UniSTSGRCh37
Build 36115,204,268 - 5,205,094RGDNCBI36
Celera115,366,363 - 5,367,189RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,865 - 4,907,691UniSTS
ECD04215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,480 - 5,247,251UniSTSGRCh37
Build 36115,203,056 - 5,203,827RGDNCBI36
Celera115,365,151 - 5,365,922RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,653 - 4,906,424UniSTS
ECD05616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,951 - 5,249,682UniSTSGRCh37
Build 36115,205,527 - 5,206,258RGDNCBI36
Celera115,367,623 - 5,368,354RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,908,125 - 4,908,856UniSTS
ECD16422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,249,744 - 5,250,185UniSTSGRCh37
Build 36115,206,320 - 5,206,761RGDNCBI36
Celera115,368,416 - 5,368,857RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,908,918 - 4,909,359UniSTS
STS-L48931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,757 - 5,246,894UniSTSGRCh37
Build 36115,203,333 - 5,203,470RGDNCBI36
Celera115,365,428 - 5,365,565RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,930 - 4,906,067UniSTS
GeneMap99-GB4 RH Map1136.52UniSTS
REN97344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,392 - 5,246,647UniSTSGRCh37
Build 36115,202,968 - 5,203,223RGDNCBI36
Celera115,365,063 - 5,365,318RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,565 - 4,905,820UniSTS
REN97345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,630 - 5,246,882UniSTSGRCh37
Build 36115,203,206 - 5,203,458RGDNCBI36
Celera115,365,301 - 5,365,553RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,803 - 4,906,055UniSTS
REN97346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,878 - 5,247,111UniSTSGRCh37
Build 36115,203,454 - 5,203,687RGDNCBI36
Celera115,365,549 - 5,365,782RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,051 - 4,906,284UniSTS
REN97347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,083 - 5,247,336UniSTSGRCh37
Build 36115,203,659 - 5,203,912RGDNCBI36
Celera115,365,754 - 5,366,007RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,256 - 4,906,509UniSTS
REN97348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,322 - 5,247,562UniSTSGRCh37
Build 36115,203,898 - 5,204,138RGDNCBI36
Celera115,365,993 - 5,366,233RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,495 - 4,906,735UniSTS
REN97349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,534 - 5,247,782UniSTSGRCh37
Build 36115,204,110 - 5,204,358RGDNCBI36
Celera115,366,205 - 5,366,453RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,707 - 4,906,955UniSTS
REN97350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,733 - 5,247,979UniSTSGRCh37
Build 36115,204,309 - 5,204,555RGDNCBI36
Celera115,366,404 - 5,366,650RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,906,906 - 4,907,152UniSTS
REN97351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,955 - 5,248,201UniSTSGRCh37
Build 36115,204,531 - 5,204,777RGDNCBI36
Celera115,366,626 - 5,366,872RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,128 - 4,907,374UniSTS
REN97352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,180 - 5,248,429UniSTSGRCh37
Build 36115,204,756 - 5,205,005RGDNCBI36
Celera115,366,851 - 5,367,100RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,353 - 4,907,602UniSTS
REN97353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,411 - 5,248,663UniSTSGRCh37
Build 36115,204,987 - 5,205,239RGDNCBI36
Celera115,367,082 - 5,367,334RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,584 - 4,907,836UniSTS
REN97354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,600 - 5,248,826UniSTSGRCh37
Build 36115,205,176 - 5,205,402RGDNCBI36
Celera115,367,271 - 5,367,497RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,773 - 4,907,999UniSTS
REN97355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,788 - 5,249,037UniSTSGRCh37
Build 36115,205,364 - 5,205,613RGDNCBI36
Celera115,367,459 - 5,367,709RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,907,961 - 4,908,211UniSTS
REN97356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,985 - 5,249,225UniSTSGRCh37
Build 36115,205,561 - 5,205,801RGDNCBI36
Celera115,367,657 - 5,367,897RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,908,159 - 4,908,399UniSTS
REN97357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,249,211 - 5,249,471UniSTSGRCh37
Build 36115,205,787 - 5,206,047RGDNCBI36
Celera115,367,883 - 5,368,143RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,908,385 - 4,908,645UniSTS
REN97358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,249,463 - 5,249,692UniSTSGRCh37
Build 36115,206,039 - 5,206,268RGDNCBI36
Celera115,368,135 - 5,368,364RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,908,637 - 4,908,866UniSTS
REN97359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,249,631 - 5,249,904UniSTSGRCh37
Build 36115,206,207 - 5,206,480RGDNCBI36
Celera115,368,303 - 5,368,576RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,908,805 - 4,909,078UniSTS
REN97360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,249,885 - 5,250,141UniSTSGRCh37
Build 36115,206,461 - 5,206,717RGDNCBI36
Celera115,368,557 - 5,368,813RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,909,059 - 4,909,315UniSTS
REN97385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,255,368 - 5,255,609UniSTSGRCh37
GRCh37115,247,954 - 5,248,197UniSTSGRCh37
Build 36115,204,530 - 5,204,773RGDNCBI36
Celera115,366,625 - 5,366,868RGD
Celera115,374,040 - 5,374,281UniSTS
Cytogenetic Map11p15.5UniSTS
HuRef114,907,127 - 4,907,370UniSTS
HuRef114,914,542 - 4,914,783UniSTS
stSG610823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,020 - 5,248,464UniSTSGRCh37
Build 36115,203,596 - 5,205,040RGDNCBI36
Celera115,365,691 - 5,367,135RGD
HuRef114,906,193 - 4,907,637UniSTS
stSG610824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,464 - 5,249,546UniSTSGRCh37
Build 36115,205,040 - 5,206,122RGDNCBI36
Celera115,367,135 - 5,368,218RGD
HuRef114,907,637 - 4,908,720UniSTS
RH41842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,246,731 - 5,246,876UniSTSGRCh37
Build 36115,203,307 - 5,203,452RGDNCBI36
Celera115,365,402 - 5,365,547RGD
Cytogenetic Map11p15.5UniSTS
HuRef114,905,904 - 4,906,049UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
RH69634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,255,247 - 5,255,386UniSTSGRCh37
GRCh37115,247,833 - 5,247,972UniSTSGRCh37
Build 36115,204,409 - 5,204,548RGDNCBI36
Celera115,366,504 - 5,366,643RGD
Celera115,373,919 - 5,374,058UniSTS
Cytogenetic Map11p15.5UniSTS
HuRef114,907,006 - 4,907,145UniSTS
HuRef114,914,421 - 4,914,560UniSTS
GeneMap99-GB4 RH Map1136.52UniSTS
D11F194S1E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,255,366 - 5,255,603UniSTSGRCh37
GRCh37115,247,952 - 5,248,191UniSTSGRCh37
Build 36115,204,528 - 5,204,767RGDNCBI36
Celera115,366,623 - 5,366,862RGD
Celera115,374,038 - 5,374,275UniSTS
Cytogenetic Map11p15.5UniSTS
HuRef114,907,125 - 4,907,364UniSTS
HuRef114,914,540 - 4,914,777UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
HBB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,016 - 5,248,187UniSTSGRCh37
GRCh372206,709,869 - 206,711,216UniSTSGRCh37
Build 36115,204,592 - 5,204,763RGDNCBI36
Celera2200,467,640 - 200,468,987UniSTS
Celera115,366,687 - 5,366,858RGD
HuRef114,907,189 - 4,907,360UniSTS
HuRef2198,558,648 - 198,559,995UniSTS
Hbb-b1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,247,824 - 5,247,881UniSTSGRCh37
Celera115,366,495 - 5,366,552UniSTS
HuRef114,906,997 - 4,907,054UniSTS
HBB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,248,016 - 5,248,187UniSTSGRCh37
GRCh372206,709,869 - 206,711,216UniSTSGRCh37
Build 36115,204,592 - 5,204,763RGDNCBI36
Celera2200,467,640 - 200,468,987UniSTS
Celera115,366,687 - 5,366,858RGD
HuRef114,907,189 - 4,907,360UniSTS
HuRef2198,558,648 - 198,559,995UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2345 2788 2228 4650 1703 2147 3 608 1445 448 2029 6677 5957 5 3640 801 1643 1435 164 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_000007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_059281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A01592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF348448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF358870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF527577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF540397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ871593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ877913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY013299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY013300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY013301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY013302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY027509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY027800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY163866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY260740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY261679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY264346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY310318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY341055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY341056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY356351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY509193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY605051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY605052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY738615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY744274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY998983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU661647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ026227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ029041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ074763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ074764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ115318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ118155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ126325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ150585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ192018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ272514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ655983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ659148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF150856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF450778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU296929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU600237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU605696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU605697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU694432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU760960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU761578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU863596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ876835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ876836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN041478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN045279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN367221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ370762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU324922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ174213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ625492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB252422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN613430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX440362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX645479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX645480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K01899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ480748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM504957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP297861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP309834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR028331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU350152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY940285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC072891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC121775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC158349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC632700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC727522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF150546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG657341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG675219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH133464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH133465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH559331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH580289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH708880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK050958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK050959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK475999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK476504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK779006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK910907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK910908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW038836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW038837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW038838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW038839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW038840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ485458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON584462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR521158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PV131716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PV131717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S41500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S41503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S41504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U01317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335295   ⟹   ENSP00000333994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,225,464 - 5,227,071 (-)Ensembl
Ensembl Acc Id: ENST00000380315   ⟹   ENSP00000369671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,226,620 - 5,229,395 (-)Ensembl
Ensembl Acc Id: ENST00000475226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,225,655 - 5,226,823 (-)Ensembl
Ensembl Acc Id: ENST00000485743   ⟹   ENSP00000496200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,226,263 - 5,227,072 (-)Ensembl
Ensembl Acc Id: ENST00000633227   ⟹   ENSP00000488004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,225,467 - 5,227,071 (-)Ensembl
Ensembl Acc Id: ENST00000647020   ⟹   ENSP00000494175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,225,464 - 5,227,197 (-)Ensembl
RefSeq Acc Id: NM_000518   ⟹   NP_000509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38115,225,464 - 5,227,071 (-)NCBI
GRCh37115,246,696 - 5,248,301 (-)ENTREZGENE
Build 36115,203,272 - 5,204,877 (-)NCBI Archive
HuRef114,905,869 - 4,907,474 (-)ENTREZGENE
CHM1_1115,245,631 - 5,247,236 (-)NCBI
T2T-CHM13v2.0115,284,832 - 5,286,439 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000509 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16334 (Get FASTA)   NCBI Sequence Viewer  
  AAA16335 (Get FASTA)   NCBI Sequence Viewer  
  AAA21100 (Get FASTA)   NCBI Sequence Viewer  
  AAA21101 (Get FASTA)   NCBI Sequence Viewer  
  AAA21102 (Get FASTA)   NCBI Sequence Viewer  
  AAA21103 (Get FASTA)   NCBI Sequence Viewer  
  AAA21104 (Get FASTA)   NCBI Sequence Viewer  
  AAA21105 (Get FASTA)   NCBI Sequence Viewer  
  AAA21106 (Get FASTA)   NCBI Sequence Viewer  
  AAA21107 (Get FASTA)   NCBI Sequence Viewer  
  AAA21108 (Get FASTA)   NCBI Sequence Viewer  
  AAA21109 (Get FASTA)   NCBI Sequence Viewer  
  AAA21110 (Get FASTA)   NCBI Sequence Viewer  
  AAA21111 (Get FASTA)   NCBI Sequence Viewer  
  AAA21112 (Get FASTA)   NCBI Sequence Viewer  
  AAA21113 (Get FASTA)   NCBI Sequence Viewer  
  AAA21114 (Get FASTA)   NCBI Sequence Viewer  
  AAA21115 (Get FASTA)   NCBI Sequence Viewer  
  AAA21116 (Get FASTA)   NCBI Sequence Viewer  
  AAA35597 (Get FASTA)   NCBI Sequence Viewer  
  AAA35952 (Get FASTA)   NCBI Sequence Viewer  
  AAA35966 (Get FASTA)   NCBI Sequence Viewer  
  AAA52633 (Get FASTA)   NCBI Sequence Viewer  
  AAA52634 (Get FASTA)   NCBI Sequence Viewer  
  AAA52635 (Get FASTA)   NCBI Sequence Viewer  
  AAA53153 (Get FASTA)   NCBI Sequence Viewer  
  AAA88052 (Get FASTA)   NCBI Sequence Viewer  
  AAA88053 (Get FASTA)   NCBI Sequence Viewer  
  AAA88054 (Get FASTA)   NCBI Sequence Viewer  
  AAA88055 (Get FASTA)   NCBI Sequence Viewer  
  AAA88056 (Get FASTA)   NCBI Sequence Viewer  
  AAA88057 (Get FASTA)   NCBI Sequence Viewer  
  AAA88058 (Get FASTA)   NCBI Sequence Viewer  
  AAA88059 (Get FASTA)   NCBI Sequence Viewer  
  AAA88060 (Get FASTA)   NCBI Sequence Viewer  
  AAA88061 (Get FASTA)   NCBI Sequence Viewer  
  AAA88062 (Get FASTA)   NCBI Sequence Viewer  
  AAA88063 (Get FASTA)   NCBI Sequence Viewer  
  AAA88064 (Get FASTA)   NCBI Sequence Viewer  
  AAA88065 (Get FASTA)   NCBI Sequence Viewer  
  AAA88066 (Get FASTA)   NCBI Sequence Viewer  
  AAA88067 (Get FASTA)   NCBI Sequence Viewer  
  AAA88068 (Get FASTA)   NCBI Sequence Viewer  
  AAA88069 (Get FASTA)   NCBI Sequence Viewer  
  AAA99223 (Get FASTA)   NCBI Sequence Viewer  
  AAA99224 (Get FASTA)   NCBI Sequence Viewer  
  AAB60348 (Get FASTA)   NCBI Sequence Viewer  
  AAB62944 (Get FASTA)   NCBI Sequence Viewer  
  AAC97372 (Get FASTA)   NCBI Sequence Viewer  
  AAC97959 (Get FASTA)   NCBI Sequence Viewer  
  AAD14211 (Get FASTA)   NCBI Sequence Viewer  
  AAD14420 (Get FASTA)   NCBI Sequence Viewer  
  AAD19696 (Get FASTA)   NCBI Sequence Viewer  
  AAD30656 (Get FASTA)   NCBI Sequence Viewer  
  AAD34034 (Get FASTA)   NCBI Sequence Viewer  
  AAF00488 (Get FASTA)   NCBI Sequence Viewer  
  AAF00489 (Get FASTA)   NCBI Sequence Viewer  
  AAG28778 (Get FASTA)   NCBI Sequence Viewer  
  AAG28779 (Get FASTA)   NCBI Sequence Viewer  
  AAG46182 (Get FASTA)   NCBI Sequence Viewer  
  AAG46183 (Get FASTA)   NCBI Sequence Viewer  
  AAG46184 (Get FASTA)   NCBI Sequence Viewer  
  AAG46185 (Get FASTA)   NCBI Sequence Viewer  
  AAH07075 (Get FASTA)   NCBI Sequence Viewer  
  AAK15811 (Get FASTA)   NCBI Sequence Viewer  
  AAK20080 (Get FASTA)   NCBI Sequence Viewer  
  AAK28064 (Get FASTA)   NCBI Sequence Viewer  
  AAK28065 (Get FASTA)   NCBI Sequence Viewer  
  AAK28066 (Get FASTA)   NCBI Sequence Viewer  
  AAK29639 (Get FASTA)   NCBI Sequence Viewer  
  AAK30154 (Get FASTA)   NCBI Sequence Viewer  
  AAK39553 (Get FASTA)   NCBI Sequence Viewer  
  AAL68978 (Get FASTA)   NCBI Sequence Viewer  
  AAM92001 (Get FASTA)   NCBI Sequence Viewer  
  AAN11320 (Get FASTA)   NCBI Sequence Viewer  
  AAN11321 (Get FASTA)   NCBI Sequence Viewer  
  AAN16468 (Get FASTA)   NCBI Sequence Viewer  
  AAN84548 (Get FASTA)   NCBI Sequence Viewer  
  AAP03091 (Get FASTA)   NCBI Sequence Viewer  
  AAP21062 (Get FASTA)   NCBI Sequence Viewer  
  AAP44006 (Get FASTA)   NCBI Sequence Viewer  
  AAP74754 (Get FASTA)   NCBI Sequence Viewer  
  AAQ24847 (Get FASTA)   NCBI Sequence Viewer  
  AAQ24848 (Get FASTA)   NCBI Sequence Viewer  
  AAQ63175 (Get FASTA)   NCBI Sequence Viewer  
  AAR96398 (Get FASTA)   NCBI Sequence Viewer  
  AAT36650 (Get FASTA)   NCBI Sequence Viewer  
  AAT36651 (Get FASTA)   NCBI Sequence Viewer  
  AAU85261 (Get FASTA)   NCBI Sequence Viewer  
  AAW66689 (Get FASTA)   NCBI Sequence Viewer  
  AAY15222 (Get FASTA)   NCBI Sequence Viewer  
  AAY46275 (Get FASTA)   NCBI Sequence Viewer  
  AAY51976 (Get FASTA)   NCBI Sequence Viewer  
  AAY84735 (Get FASTA)   NCBI Sequence Viewer  
  AAZ22545 (Get FASTA)   NCBI Sequence Viewer  
  AAZ30391 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39745 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39746 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39747 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39748 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39749 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39750 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39751 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39752 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39753 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39754 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39755 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39756 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39757 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39758 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39759 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39760 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39761 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39762 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39763 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39764 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39765 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39766 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39767 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39768 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39769 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39770 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39771 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39772 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39773 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39774 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39775 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39776 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39777 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39778 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39779 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39780 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39781 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39782 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39783 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39784 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39785 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39786 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39787 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39788 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39789 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39790 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39791 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39792 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39793 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39794 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39795 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39796 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39797 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39798 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39799 (Get FASTA)   NCBI Sequence Viewer  
  AAZ39800 (Get FASTA)   NCBI Sequence Viewer  
  AAZ81986 (Get FASTA)   NCBI Sequence Viewer  
  ABA19233 (Get FASTA)   NCBI Sequence Viewer  
  ABB82620 (Get FASTA)   NCBI Sequence Viewer  
  ABG47031 (Get FASTA)   NCBI Sequence Viewer  
  ABL84269 (Get FASTA)   NCBI Sequence Viewer  
  ABO36678 (Get FASTA)   NCBI Sequence Viewer  
  ABY26552 (Get FASTA)   NCBI Sequence Viewer  
  ACC69180 (Get FASTA)   NCBI Sequence Viewer  
  ACC69181 (Get FASTA)   NCBI Sequence Viewer  
  ACC78290 (Get FASTA)   NCBI Sequence Viewer  
  ACD39349 (Get FASTA)   NCBI Sequence Viewer  
  ACE80932 (Get FASTA)   NCBI Sequence Viewer  
  ACF16747 (Get FASTA)   NCBI Sequence Viewer  
  ACF16748 (Get FASTA)   NCBI Sequence Viewer  
  ACF16749 (Get FASTA)   NCBI Sequence Viewer  
  ACF16750 (Get FASTA)   NCBI Sequence Viewer  
  ACF16751 (Get FASTA)   NCBI Sequence Viewer  
  ACF16752 (Get FASTA)   NCBI Sequence Viewer  
  ACF16753 (Get FASTA)   NCBI Sequence Viewer  
  ACF16754 (Get FASTA)   NCBI Sequence Viewer  
  ACF16755 (Get FASTA)   NCBI Sequence Viewer  
  ACF16756 (Get FASTA)   NCBI Sequence Viewer  
  ACF16757 (Get FASTA)   NCBI Sequence Viewer  
  ACF16758 (Get FASTA)   NCBI Sequence Viewer  
  ACF16759 (Get FASTA)   NCBI Sequence Viewer  
  ACF16760 (Get FASTA)   NCBI Sequence Viewer  
  ACF16761 (Get FASTA)   NCBI Sequence Viewer  
  ACF16762 (Get FASTA)   NCBI Sequence Viewer  
  ACF16763 (Get FASTA)   NCBI Sequence Viewer  
  ACF16764 (Get FASTA)   NCBI Sequence Viewer  
  ACF16765 (Get FASTA)   NCBI Sequence Viewer  
  ACF16766 (Get FASTA)   NCBI Sequence Viewer  
  ACF16767 (Get FASTA)   NCBI Sequence Viewer  
  ACF16768 (Get FASTA)   NCBI Sequence Viewer  
  ACF16769 (Get FASTA)   NCBI Sequence Viewer  
  ACF16770 (Get FASTA)   NCBI Sequence Viewer  
  ACF16771 (Get FASTA)   NCBI Sequence Viewer  
  ACF16772 (Get FASTA)   NCBI Sequence Viewer  
  ACF16773 (Get FASTA)   NCBI Sequence Viewer  
  ACF16774 (Get FASTA)   NCBI Sequence Viewer  
  ACF16775 (Get FASTA)   NCBI Sequence Viewer  
  ACF16776 (Get FASTA)   NCBI Sequence Viewer  
  ACF16777 (Get FASTA)   NCBI Sequence Viewer  
  ACF16778 (Get FASTA)   NCBI Sequence Viewer  
  ACF16779 (Get FASTA)   NCBI Sequence Viewer  
  ACF16780 (Get FASTA)   NCBI Sequence Viewer  
  ACF16781 (Get FASTA)   NCBI Sequence Viewer  
  ACF16782 (Get FASTA)   NCBI Sequence Viewer  
  ACF16783 (Get FASTA)   NCBI Sequence Viewer  
  ACF16784 (Get FASTA)   NCBI Sequence Viewer  
  ACF16785 (Get FASTA)   NCBI Sequence Viewer  
  ACF16786 (Get FASTA)   NCBI Sequence Viewer  
  ACF16787 (Get FASTA)   NCBI Sequence Viewer  
  ACF16788 (Get FASTA)   NCBI Sequence Viewer  
  ACF16789 (Get FASTA)   NCBI Sequence Viewer  
  ACF16790 (Get FASTA)   NCBI Sequence Viewer  
  ACF16791 (Get FASTA)   NCBI Sequence Viewer  
  ACF16792 (Get FASTA)   NCBI Sequence Viewer  
  ACF16793 (Get FASTA)   NCBI Sequence Viewer  
  ACF16794 (Get FASTA)   NCBI Sequence Viewer  
  ACF16795 (Get FASTA)   NCBI Sequence Viewer  
  ACF93730 (Get FASTA)   NCBI Sequence Viewer  
  ACU56984 (Get FASTA)   NCBI Sequence Viewer  
  ACZ67952 (Get FASTA)   NCBI Sequence Viewer  
  ACZ67953 (Get FASTA)   NCBI Sequence Viewer  
  ADV59922 (Get FASTA)   NCBI Sequence Viewer  
  ADW79453 (Get FASTA)   NCBI Sequence Viewer  
  AEQ28038 (Get FASTA)   NCBI Sequence Viewer  
  AFR11469 (Get FASTA)   NCBI Sequence Viewer  
  AFV63186 (Get FASTA)   NCBI Sequence Viewer  
  AFV63187 (Get FASTA)   NCBI Sequence Viewer  
  AJW81992 (Get FASTA)   NCBI Sequence Viewer  
  AJW81993 (Get FASTA)   NCBI Sequence Viewer  
  AJW81994 (Get FASTA)   NCBI Sequence Viewer  
  AJW81995 (Get FASTA)   NCBI Sequence Viewer  
  AJW81996 (Get FASTA)   NCBI Sequence Viewer  
  AJW81997 (Get FASTA)   NCBI Sequence Viewer  
  AJW81998 (Get FASTA)   NCBI Sequence Viewer  
  AJW81999 (Get FASTA)   NCBI Sequence Viewer  
  AJW82000 (Get FASTA)   NCBI Sequence Viewer  
  AJW82001 (Get FASTA)   NCBI Sequence Viewer  
  AJW82002 (Get FASTA)   NCBI Sequence Viewer  
  AJW82003 (Get FASTA)   NCBI Sequence Viewer  
  AJW82004 (Get FASTA)   NCBI Sequence Viewer  
  AJW82005 (Get FASTA)   NCBI Sequence Viewer  
  AJW82006 (Get FASTA)   NCBI Sequence Viewer  
  AJW82007 (Get FASTA)   NCBI Sequence Viewer  
  AJW82008 (Get FASTA)   NCBI Sequence Viewer  
  AJW82009 (Get FASTA)   NCBI Sequence Viewer  
  AJW82010 (Get FASTA)   NCBI Sequence Viewer  
  AKQ62389 (Get FASTA)   NCBI Sequence Viewer  
  ALU64019 (Get FASTA)   NCBI Sequence Viewer  
  ALU64020 (Get FASTA)   NCBI Sequence Viewer  
  AVR43714 (Get FASTA)   NCBI Sequence Viewer  
  AWD38994 (Get FASTA)   NCBI Sequence Viewer  
  AXR98451 (Get FASTA)   NCBI Sequence Viewer  
  AYK39568 (Get FASTA)   NCBI Sequence Viewer  
  AYV92025 (Get FASTA)   NCBI Sequence Viewer  
  AYV92130 (Get FASTA)   NCBI Sequence Viewer  
  AYV92131 (Get FASTA)   NCBI Sequence Viewer  
  BAG34767 (Get FASTA)   NCBI Sequence Viewer  
  BAS21756 (Get FASTA)   NCBI Sequence Viewer  
  BAU68217 (Get FASTA)   NCBI Sequence Viewer  
  BAV25189 (Get FASTA)   NCBI Sequence Viewer  
  CAA00182 (Get FASTA)   NCBI Sequence Viewer  
  CAA23756 (Get FASTA)   NCBI Sequence Viewer  
  CAA23757 (Get FASTA)   NCBI Sequence Viewer  
  CAA23758 (Get FASTA)   NCBI Sequence Viewer  
  CAA23759 (Get FASTA)   NCBI Sequence Viewer  
  CAG38767 (Get FASTA)   NCBI Sequence Viewer  
  CAG46711 (Get FASTA)   NCBI Sequence Viewer  
  CAI40296 (Get FASTA)   NCBI Sequence Viewer  
  CAI47563 (Get FASTA)   NCBI Sequence Viewer  
  CAX48890 (Get FASTA)   NCBI Sequence Viewer  
  CAX48956 (Get FASTA)   NCBI Sequence Viewer  
  CAY85982 (Get FASTA)   NCBI Sequence Viewer  
  CDH61667 (Get FASTA)   NCBI Sequence Viewer  
  EAW68806 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000333994
  ENSP00000333994.3
  ENSP00000494175.1
GenBank Protein P68871 (Get FASTA)   NCBI Sequence Viewer  
  QBH68102 (Get FASTA)   NCBI Sequence Viewer  
  QBH68103 (Get FASTA)   NCBI Sequence Viewer  
  QBH68104 (Get FASTA)   NCBI Sequence Viewer  
  QBH68105 (Get FASTA)   NCBI Sequence Viewer  
  QBH68106 (Get FASTA)   NCBI Sequence Viewer  
  QBH68107 (Get FASTA)   NCBI Sequence Viewer  
  QBH68108 (Get FASTA)   NCBI Sequence Viewer  
  QBH68109 (Get FASTA)   NCBI Sequence Viewer  
  QBH68110 (Get FASTA)   NCBI Sequence Viewer  
  QBH68111 (Get FASTA)   NCBI Sequence Viewer  
  QBH68112 (Get FASTA)   NCBI Sequence Viewer  
  QBH68113 (Get FASTA)   NCBI Sequence Viewer  
  QBH68114 (Get FASTA)   NCBI Sequence Viewer  
  QBH68115 (Get FASTA)   NCBI Sequence Viewer  
  QBH68116 (Get FASTA)   NCBI Sequence Viewer  
  QBH68117 (Get FASTA)   NCBI Sequence Viewer  
  QBH68118 (Get FASTA)   NCBI Sequence Viewer  
  QBH68119 (Get FASTA)   NCBI Sequence Viewer  
  QBH68120 (Get FASTA)   NCBI Sequence Viewer  
  QBH68121 (Get FASTA)   NCBI Sequence Viewer  
  QBH68122 (Get FASTA)   NCBI Sequence Viewer  
  QBH68123 (Get FASTA)   NCBI Sequence Viewer  
  QBH68124 (Get FASTA)   NCBI Sequence Viewer  
  QBH68125 (Get FASTA)   NCBI Sequence Viewer  
  QBH68126 (Get FASTA)   NCBI Sequence Viewer  
  QBH68127 (Get FASTA)   NCBI Sequence Viewer  
  QBH68128 (Get FASTA)   NCBI Sequence Viewer  
  QBH68129 (Get FASTA)   NCBI Sequence Viewer  
  QBH68130 (Get FASTA)   NCBI Sequence Viewer  
  QBH68131 (Get FASTA)   NCBI Sequence Viewer  
  QBH68132 (Get FASTA)   NCBI Sequence Viewer  
  QBH68133 (Get FASTA)   NCBI Sequence Viewer  
  QBH68134 (Get FASTA)   NCBI Sequence Viewer  
  QBH68135 (Get FASTA)   NCBI Sequence Viewer  
  QBH68136 (Get FASTA)   NCBI Sequence Viewer  
  QBH68137 (Get FASTA)   NCBI Sequence Viewer  
  QBH68138 (Get FASTA)   NCBI Sequence Viewer  
  QBH68139 (Get FASTA)   NCBI Sequence Viewer  
  QBH68140 (Get FASTA)   NCBI Sequence Viewer  
  QBH68141 (Get FASTA)   NCBI Sequence Viewer  
  QBH68142 (Get FASTA)   NCBI Sequence Viewer  
  QBH68143 (Get FASTA)   NCBI Sequence Viewer  
  QBH68144 (Get FASTA)   NCBI Sequence Viewer  
  QBH68145 (Get FASTA)   NCBI Sequence Viewer  
  QBH68146 (Get FASTA)   NCBI Sequence Viewer  
  QBH68147 (Get FASTA)   NCBI Sequence Viewer  
  QBH68148 (Get FASTA)   NCBI Sequence Viewer  
  QBH68149 (Get FASTA)   NCBI Sequence Viewer  
  QBH68150 (Get FASTA)   NCBI Sequence Viewer  
  QBH68151 (Get FASTA)   NCBI Sequence Viewer  
  QBH68152 (Get FASTA)   NCBI Sequence Viewer  
  QBH68153 (Get FASTA)   NCBI Sequence Viewer  
  QBH68154 (Get FASTA)   NCBI Sequence Viewer  
  QBH68155 (Get FASTA)   NCBI Sequence Viewer  
  QBH68156 (Get FASTA)   NCBI Sequence Viewer  
  QBH68157 (Get FASTA)   NCBI Sequence Viewer  
  QBH68158 (Get FASTA)   NCBI Sequence Viewer  
  QBH68159 (Get FASTA)   NCBI Sequence Viewer  
  QBH68160 (Get FASTA)   NCBI Sequence Viewer  
  QBH68161 (Get FASTA)   NCBI Sequence Viewer  
  QBH68162 (Get FASTA)   NCBI Sequence Viewer  
  QBH68163 (Get FASTA)   NCBI Sequence Viewer  
  QBH68164 (Get FASTA)   NCBI Sequence Viewer  
  QBH68165 (Get FASTA)   NCBI Sequence Viewer  
  QBH68166 (Get FASTA)   NCBI Sequence Viewer  
  QBH68167 (Get FASTA)   NCBI Sequence Viewer  
  QBH68168 (Get FASTA)   NCBI Sequence Viewer  
  QBH68169 (Get FASTA)   NCBI Sequence Viewer  
  QBH68170 (Get FASTA)   NCBI Sequence Viewer  
  QBH68171 (Get FASTA)   NCBI Sequence Viewer  
  QBH68172 (Get FASTA)   NCBI Sequence Viewer  
  QBH68173 (Get FASTA)   NCBI Sequence Viewer  
  QBH68174 (Get FASTA)   NCBI Sequence Viewer  
  QBH68175 (Get FASTA)   NCBI Sequence Viewer  
  QBH68176 (Get FASTA)   NCBI Sequence Viewer  
  QBH68177 (Get FASTA)   NCBI Sequence Viewer  
  QBH68178 (Get FASTA)   NCBI Sequence Viewer  
  QBH68179 (Get FASTA)   NCBI Sequence Viewer  
  QBH68180 (Get FASTA)   NCBI Sequence Viewer  
  QBH68181 (Get FASTA)   NCBI Sequence Viewer  
  QBH68182 (Get FASTA)   NCBI Sequence Viewer  
  QBH68183 (Get FASTA)   NCBI Sequence Viewer  
  QBH68184 (Get FASTA)   NCBI Sequence Viewer  
  QBH68185 (Get FASTA)   NCBI Sequence Viewer  
  QBH68186 (Get FASTA)   NCBI Sequence Viewer  
  QBH68187 (Get FASTA)   NCBI Sequence Viewer  
  QBH68188 (Get FASTA)   NCBI Sequence Viewer  
  QBH68189 (Get FASTA)   NCBI Sequence Viewer  
  QBH68190 (Get FASTA)   NCBI Sequence Viewer  
  QBH68191 (Get FASTA)   NCBI Sequence Viewer  
  QBH68192 (Get FASTA)   NCBI Sequence Viewer  
  QBH68193 (Get FASTA)   NCBI Sequence Viewer  
  QBH68194 (Get FASTA)   NCBI Sequence Viewer  
  QBH68195 (Get FASTA)   NCBI Sequence Viewer  
  QBH68196 (Get FASTA)   NCBI Sequence Viewer  
  QBH68197 (Get FASTA)   NCBI Sequence Viewer  
  QBH68198 (Get FASTA)   NCBI Sequence Viewer  
  QBH68199 (Get FASTA)   NCBI Sequence Viewer  
  QBH68200 (Get FASTA)   NCBI Sequence Viewer  
  QBH68201 (Get FASTA)   NCBI Sequence Viewer  
  QBH68202 (Get FASTA)   NCBI Sequence Viewer  
  QBH68203 (Get FASTA)   NCBI Sequence Viewer  
  QBH68204 (Get FASTA)   NCBI Sequence Viewer  
  QBH68205 (Get FASTA)   NCBI Sequence Viewer  
  QBH68206 (Get FASTA)   NCBI Sequence Viewer  
  QBH68207 (Get FASTA)   NCBI Sequence Viewer  
  QBH68208 (Get FASTA)   NCBI Sequence Viewer  
  QBH68209 (Get FASTA)   NCBI Sequence Viewer  
  QBH68210 (Get FASTA)   NCBI Sequence Viewer  
  QBH68211 (Get FASTA)   NCBI Sequence Viewer  
  QBH68212 (Get FASTA)   NCBI Sequence Viewer  
  QBH68213 (Get FASTA)   NCBI Sequence Viewer  
  QBH68214 (Get FASTA)   NCBI Sequence Viewer  
  QBH68215 (Get FASTA)   NCBI Sequence Viewer  
  QBH68216 (Get FASTA)   NCBI Sequence Viewer  
  QBH68217 (Get FASTA)   NCBI Sequence Viewer  
  QBH68218 (Get FASTA)   NCBI Sequence Viewer  
  QBH68219 (Get FASTA)   NCBI Sequence Viewer  
  QBH68220 (Get FASTA)   NCBI Sequence Viewer  
  QBH68221 (Get FASTA)   NCBI Sequence Viewer  
  QBH68222 (Get FASTA)   NCBI Sequence Viewer  
  QBH68223 (Get FASTA)   NCBI Sequence Viewer  
  QBH68224 (Get FASTA)   NCBI Sequence Viewer  
  QBH68225 (Get FASTA)   NCBI Sequence Viewer  
  QBH68226 (Get FASTA)   NCBI Sequence Viewer  
  QBH68227 (Get FASTA)   NCBI Sequence Viewer  
  QBH68228 (Get FASTA)   NCBI Sequence Viewer  
  QBH68229 (Get FASTA)   NCBI Sequence Viewer  
  QBH68230 (Get FASTA)   NCBI Sequence Viewer  
  QBH68231 (Get FASTA)   NCBI Sequence Viewer  
  QBH68232 (Get FASTA)   NCBI Sequence Viewer  
  QBH68233 (Get FASTA)   NCBI Sequence Viewer  
  QBH68234 (Get FASTA)   NCBI Sequence Viewer  
  QBH68235 (Get FASTA)   NCBI Sequence Viewer  
  QBH68236 (Get FASTA)   NCBI Sequence Viewer  
  QBH68237 (Get FASTA)   NCBI Sequence Viewer  
  QBH68238 (Get FASTA)   NCBI Sequence Viewer  
  QBH68239 (Get FASTA)   NCBI Sequence Viewer  
  QBH68240 (Get FASTA)   NCBI Sequence Viewer  
  QBH68241 (Get FASTA)   NCBI Sequence Viewer  
  QBH68242 (Get FASTA)   NCBI Sequence Viewer  
  QBH68243 (Get FASTA)   NCBI Sequence Viewer  
  QBH68244 (Get FASTA)   NCBI Sequence Viewer  
  QBH68245 (Get FASTA)   NCBI Sequence Viewer  
  QBH68246 (Get FASTA)   NCBI Sequence Viewer  
  QBH68247 (Get FASTA)   NCBI Sequence Viewer  
  QBH68248 (Get FASTA)   NCBI Sequence Viewer  
  QBH68249 (Get FASTA)   NCBI Sequence Viewer  
  QBH68250 (Get FASTA)   NCBI Sequence Viewer  
  QBH68251 (Get FASTA)   NCBI Sequence Viewer  
  QBH68252 (Get FASTA)   NCBI Sequence Viewer  
  QBH68253 (Get FASTA)   NCBI Sequence Viewer  
  QBH68254 (Get FASTA)   NCBI Sequence Viewer  
  QBH68255 (Get FASTA)   NCBI Sequence Viewer  
  QBH68256 (Get FASTA)   NCBI Sequence Viewer  
  QBH68257 (Get FASTA)   NCBI Sequence Viewer  
  QBH68258 (Get FASTA)   NCBI Sequence Viewer  
  QBH68259 (Get FASTA)   NCBI Sequence Viewer  
  QBH68260 (Get FASTA)   NCBI Sequence Viewer  
  QBH68261 (Get FASTA)   NCBI Sequence Viewer  
  QBH68262 (Get FASTA)   NCBI Sequence Viewer  
  QBH68263 (Get FASTA)   NCBI Sequence Viewer  
  QBH68264 (Get FASTA)   NCBI Sequence Viewer  
  QBH68265 (Get FASTA)   NCBI Sequence Viewer  
  QBH68266 (Get FASTA)   NCBI Sequence Viewer  
  QBH68267 (Get FASTA)   NCBI Sequence Viewer  
  QBH68268 (Get FASTA)   NCBI Sequence Viewer  
  QBH68269 (Get FASTA)   NCBI Sequence Viewer  
  QBH68270 (Get FASTA)   NCBI Sequence Viewer  
  QBH68271 (Get FASTA)   NCBI Sequence Viewer  
  QBH68272 (Get FASTA)   NCBI Sequence Viewer  
  QBH68273 (Get FASTA)   NCBI Sequence Viewer  
  QBH68274 (Get FASTA)   NCBI Sequence Viewer  
  QBH68275 (Get FASTA)   NCBI Sequence Viewer  
  QBH68276 (Get FASTA)   NCBI Sequence Viewer  
  QBH68277 (Get FASTA)   NCBI Sequence Viewer  
  QBH68278 (Get FASTA)   NCBI Sequence Viewer  
  QBH68279 (Get FASTA)   NCBI Sequence Viewer  
  QBH68280 (Get FASTA)   NCBI Sequence Viewer  
  QBH68281 (Get FASTA)   NCBI Sequence Viewer  
  QBH68282 (Get FASTA)   NCBI Sequence Viewer  
  QBH68283 (Get FASTA)   NCBI Sequence Viewer  
  QBH68284 (Get FASTA)   NCBI Sequence Viewer  
  QBH68285 (Get FASTA)   NCBI Sequence Viewer  
  QBH68286 (Get FASTA)   NCBI Sequence Viewer  
  QBH68287 (Get FASTA)   NCBI Sequence Viewer  
  QBH68288 (Get FASTA)   NCBI Sequence Viewer  
  QBH68289 (Get FASTA)   NCBI Sequence Viewer  
  QBH68290 (Get FASTA)   NCBI Sequence Viewer  
  QBH68291 (Get FASTA)   NCBI Sequence Viewer  
  QBH68292 (Get FASTA)   NCBI Sequence Viewer  
  QBH68293 (Get FASTA)   NCBI Sequence Viewer  
  QBH68294 (Get FASTA)   NCBI Sequence Viewer  
  QBH68295 (Get FASTA)   NCBI Sequence Viewer  
  QBH68296 (Get FASTA)   NCBI Sequence Viewer  
  QBH68297 (Get FASTA)   NCBI Sequence Viewer  
  QBH68298 (Get FASTA)   NCBI Sequence Viewer  
  QBH68299 (Get FASTA)   NCBI Sequence Viewer  
  QBH68300 (Get FASTA)   NCBI Sequence Viewer  
  QBH68301 (Get FASTA)   NCBI Sequence Viewer  
  QBH68302 (Get FASTA)   NCBI Sequence Viewer  
  QBH68303 (Get FASTA)   NCBI Sequence Viewer  
  QBH68304 (Get FASTA)   NCBI Sequence Viewer  
  QBH68305 (Get FASTA)   NCBI Sequence Viewer  
  QBH68306 (Get FASTA)   NCBI Sequence Viewer  
  QBH68307 (Get FASTA)   NCBI Sequence Viewer  
  QBH68308 (Get FASTA)   NCBI Sequence Viewer  
  QBH68309 (Get FASTA)   NCBI Sequence Viewer  
  QBH68310 (Get FASTA)   NCBI Sequence Viewer  
  QBH68311 (Get FASTA)   NCBI Sequence Viewer  
  QBH68312 (Get FASTA)   NCBI Sequence Viewer  
  QBH68313 (Get FASTA)   NCBI Sequence Viewer  
  QBH68314 (Get FASTA)   NCBI Sequence Viewer  
  QBH68315 (Get FASTA)   NCBI Sequence Viewer  
  QBH68316 (Get FASTA)   NCBI Sequence Viewer  
  QBH68317 (Get FASTA)   NCBI Sequence Viewer  
  QBH68318 (Get FASTA)   NCBI Sequence Viewer  
  QBH68319 (Get FASTA)   NCBI Sequence Viewer  
  QBH68320 (Get FASTA)   NCBI Sequence Viewer  
  QBH68321 (Get FASTA)   NCBI Sequence Viewer  
  QBH68322 (Get FASTA)   NCBI Sequence Viewer  
  QBH68323 (Get FASTA)   NCBI Sequence Viewer  
  QBH68324 (Get FASTA)   NCBI Sequence Viewer  
  QBH68325 (Get FASTA)   NCBI Sequence Viewer  
  QBH68326 (Get FASTA)   NCBI Sequence Viewer  
  QBH68327 (Get FASTA)   NCBI Sequence Viewer  
  QBH68328 (Get FASTA)   NCBI Sequence Viewer  
  QBH68329 (Get FASTA)   NCBI Sequence Viewer  
  QBH68330 (Get FASTA)   NCBI Sequence Viewer  
  QBH68331 (Get FASTA)   NCBI Sequence Viewer  
  QBH68332 (Get FASTA)   NCBI Sequence Viewer  
  QBH68333 (Get FASTA)   NCBI Sequence Viewer  
  QBH68334 (Get FASTA)   NCBI Sequence Viewer  
  QBH68335 (Get FASTA)   NCBI Sequence Viewer  
  QBH68336 (Get FASTA)   NCBI Sequence Viewer  
  QBH68337 (Get FASTA)   NCBI Sequence Viewer  
  QBH68338 (Get FASTA)   NCBI Sequence Viewer  
  QBH68339 (Get FASTA)   NCBI Sequence Viewer  
  QBH68340 (Get FASTA)   NCBI Sequence Viewer  
  QBH68341 (Get FASTA)   NCBI Sequence Viewer  
  QBH68342 (Get FASTA)   NCBI Sequence Viewer  
  QBH68343 (Get FASTA)   NCBI Sequence Viewer  
  QBH68344 (Get FASTA)   NCBI Sequence Viewer  
  QBH68345 (Get FASTA)   NCBI Sequence Viewer  
  QBH68346 (Get FASTA)   NCBI Sequence Viewer  
  QBH68347 (Get FASTA)   NCBI Sequence Viewer  
  QBH68348 (Get FASTA)   NCBI Sequence Viewer  
  QBH68349 (Get FASTA)   NCBI Sequence Viewer  
  QBH68350 (Get FASTA)   NCBI Sequence Viewer  
  QBH68351 (Get FASTA)   NCBI Sequence Viewer  
  QBH68352 (Get FASTA)   NCBI Sequence Viewer  
  QBH68353 (Get FASTA)   NCBI Sequence Viewer  
  QBH68354 (Get FASTA)   NCBI Sequence Viewer  
  QBH68355 (Get FASTA)   NCBI Sequence Viewer  
  QBH68356 (Get FASTA)   NCBI Sequence Viewer  
  QBH68357 (Get FASTA)   NCBI Sequence Viewer  
  QBH68358 (Get FASTA)   NCBI Sequence Viewer  
  QBH68359 (Get FASTA)   NCBI Sequence Viewer  
  QBH68360 (Get FASTA)   NCBI Sequence Viewer  
  QBH68361 (Get FASTA)   NCBI Sequence Viewer  
  QBH68362 (Get FASTA)   NCBI Sequence Viewer  
  QBH68363 (Get FASTA)   NCBI Sequence Viewer  
  QBH68364 (Get FASTA)   NCBI Sequence Viewer  
  QBH68365 (Get FASTA)   NCBI Sequence Viewer  
  QBH68366 (Get FASTA)   NCBI Sequence Viewer  
  QBH68367 (Get FASTA)   NCBI Sequence Viewer  
  QBH68368 (Get FASTA)   NCBI Sequence Viewer  
  QBH68369 (Get FASTA)   NCBI Sequence Viewer  
  QBH68370 (Get FASTA)   NCBI Sequence Viewer  
  QBH68371 (Get FASTA)   NCBI Sequence Viewer  
  QBH68372 (Get FASTA)   NCBI Sequence Viewer  
  QBH68373 (Get FASTA)   NCBI Sequence Viewer  
  QBH68374 (Get FASTA)   NCBI Sequence Viewer  
  QBH68375 (Get FASTA)   NCBI Sequence Viewer  
  QBH68376 (Get FASTA)   NCBI Sequence Viewer  
  QBH68377 (Get FASTA)   NCBI Sequence Viewer  
  QBH68378 (Get FASTA)   NCBI Sequence Viewer  
  QBH68379 (Get FASTA)   NCBI Sequence Viewer  
  QBH68380 (Get FASTA)   NCBI Sequence Viewer  
  QBH68381 (Get FASTA)   NCBI Sequence Viewer  
  QBH68382 (Get FASTA)   NCBI Sequence Viewer  
  QBH68383 (Get FASTA)   NCBI Sequence Viewer  
  QBH68384 (Get FASTA)   NCBI Sequence Viewer  
  QBH68385 (Get FASTA)   NCBI Sequence Viewer  
  QBH68386 (Get FASTA)   NCBI Sequence Viewer  
  QBH68387 (Get FASTA)   NCBI Sequence Viewer  
  QBH68388 (Get FASTA)   NCBI Sequence Viewer  
  QBH68389 (Get FASTA)   NCBI Sequence Viewer  
  QBH68390 (Get FASTA)   NCBI Sequence Viewer  
  QBH68391 (Get FASTA)   NCBI Sequence Viewer  
  QBH68392 (Get FASTA)   NCBI Sequence Viewer  
  QBH68393 (Get FASTA)   NCBI Sequence Viewer  
  QBH68394 (Get FASTA)   NCBI Sequence Viewer  
  QBH68395 (Get FASTA)   NCBI Sequence Viewer  
  QBH68396 (Get FASTA)   NCBI Sequence Viewer  
  QBH68397 (Get FASTA)   NCBI Sequence Viewer  
  QBH68398 (Get FASTA)   NCBI Sequence Viewer  
  QBH68399 (Get FASTA)   NCBI Sequence Viewer  
  QBH68400 (Get FASTA)   NCBI Sequence Viewer  
  QBH68401 (Get FASTA)   NCBI Sequence Viewer  
  QBH68402 (Get FASTA)   NCBI Sequence Viewer  
  QBH68403 (Get FASTA)   NCBI Sequence Viewer  
  QBH68404 (Get FASTA)   NCBI Sequence Viewer  
  QBH68405 (Get FASTA)   NCBI Sequence Viewer  
  QBH68406 (Get FASTA)   NCBI Sequence Viewer  
  QBH68407 (Get FASTA)   NCBI Sequence Viewer  
  QBH68408 (Get FASTA)   NCBI Sequence Viewer  
  QBH68409 (Get FASTA)   NCBI Sequence Viewer  
  QBH68410 (Get FASTA)   NCBI Sequence Viewer  
  QBH68411 (Get FASTA)   NCBI Sequence Viewer  
  QBH68412 (Get FASTA)   NCBI Sequence Viewer  
  QBH68413 (Get FASTA)   NCBI Sequence Viewer  
  QBH68414 (Get FASTA)   NCBI Sequence Viewer  
  QBH68415 (Get FASTA)   NCBI Sequence Viewer  
  QBH68416 (Get FASTA)   NCBI Sequence Viewer  
  QBH68417 (Get FASTA)   NCBI Sequence Viewer  
  QBH68418 (Get FASTA)   NCBI Sequence Viewer  
  QBH68419 (Get FASTA)   NCBI Sequence Viewer  
  QBH68420 (Get FASTA)   NCBI Sequence Viewer  
  QBH68421 (Get FASTA)   NCBI Sequence Viewer  
  QBH68422 (Get FASTA)   NCBI Sequence Viewer  
  QBH68423 (Get FASTA)   NCBI Sequence Viewer  
  QBH68424 (Get FASTA)   NCBI Sequence Viewer  
  QBH68425 (Get FASTA)   NCBI Sequence Viewer  
  QBH68426 (Get FASTA)   NCBI Sequence Viewer  
  QBH68427 (Get FASTA)   NCBI Sequence Viewer  
  QBH68428 (Get FASTA)   NCBI Sequence Viewer  
  QBH68429 (Get FASTA)   NCBI Sequence Viewer  
  QBH68430 (Get FASTA)   NCBI Sequence Viewer  
  QBH68431 (Get FASTA)   NCBI Sequence Viewer  
  QBH68432 (Get FASTA)   NCBI Sequence Viewer  
  QBH68433 (Get FASTA)   NCBI Sequence Viewer  
  QBH68434 (Get FASTA)   NCBI Sequence Viewer  
  QBH68435 (Get FASTA)   NCBI Sequence Viewer  
  QBH68436 (Get FASTA)   NCBI Sequence Viewer  
  QBH68437 (Get FASTA)   NCBI Sequence Viewer  
  QBH68438 (Get FASTA)   NCBI Sequence Viewer  
  QBH68439 (Get FASTA)   NCBI Sequence Viewer  
  QBH68440 (Get FASTA)   NCBI Sequence Viewer  
  QBH68441 (Get FASTA)   NCBI Sequence Viewer  
  QBH68442 (Get FASTA)   NCBI Sequence Viewer  
  QBH68443 (Get FASTA)   NCBI Sequence Viewer  
  QBH68444 (Get FASTA)   NCBI Sequence Viewer  
  QBH68445 (Get FASTA)   NCBI Sequence Viewer  
  QBH68446 (Get FASTA)   NCBI Sequence Viewer  
  QBH68447 (Get FASTA)   NCBI Sequence Viewer  
  QBH68448 (Get FASTA)   NCBI Sequence Viewer  
  QBH68449 (Get FASTA)   NCBI Sequence Viewer  
  QBH68450 (Get FASTA)   NCBI Sequence Viewer  
  QBH68451 (Get FASTA)   NCBI Sequence Viewer  
  QBH68452 (Get FASTA)   NCBI Sequence Viewer  
  QBH68453 (Get FASTA)   NCBI Sequence Viewer  
  QBH68454 (Get FASTA)   NCBI Sequence Viewer  
  QBH68455 (Get FASTA)   NCBI Sequence Viewer  
  QBH68456 (Get FASTA)   NCBI Sequence Viewer  
  QBH68457 (Get FASTA)   NCBI Sequence Viewer  
  QBH68458 (Get FASTA)   NCBI Sequence Viewer  
  QBH68459 (Get FASTA)   NCBI Sequence Viewer  
  QBH68460 (Get FASTA)   NCBI Sequence Viewer  
  QBH68461 (Get FASTA)   NCBI Sequence Viewer  
  QBH68462 (Get FASTA)   NCBI Sequence Viewer  
  QBH68463 (Get FASTA)   NCBI Sequence Viewer  
  QBH68464 (Get FASTA)   NCBI Sequence Viewer  
  QBH68465 (Get FASTA)   NCBI Sequence Viewer  
  QBH68466 (Get FASTA)   NCBI Sequence Viewer  
  QBH68467 (Get FASTA)   NCBI Sequence Viewer  
  QBH68468 (Get FASTA)   NCBI Sequence Viewer  
  QBH68469 (Get FASTA)   NCBI Sequence Viewer  
  QBH68470 (Get FASTA)   NCBI Sequence Viewer  
  QBH68471 (Get FASTA)   NCBI Sequence Viewer  
  QBH68472 (Get FASTA)   NCBI Sequence Viewer  
  QBH68473 (Get FASTA)   NCBI Sequence Viewer  
  QBH68474 (Get FASTA)   NCBI Sequence Viewer  
  QBH68475 (Get FASTA)   NCBI Sequence Viewer  
  QBH68476 (Get FASTA)   NCBI Sequence Viewer  
  QBH68477 (Get FASTA)   NCBI Sequence Viewer  
  QBH68478 (Get FASTA)   NCBI Sequence Viewer  
  QBH68479 (Get FASTA)   NCBI Sequence Viewer  
  QBH68480 (Get FASTA)   NCBI Sequence Viewer  
  QBH68481 (Get FASTA)   NCBI Sequence Viewer  
  QBH68482 (Get FASTA)   NCBI Sequence Viewer  
  QBH68483 (Get FASTA)   NCBI Sequence Viewer  
  QBH68484 (Get FASTA)   NCBI Sequence Viewer  
  QBH68485 (Get FASTA)   NCBI Sequence Viewer  
  QBH68486 (Get FASTA)   NCBI Sequence Viewer  
  QBH68487 (Get FASTA)   NCBI Sequence Viewer  
  QBH68488 (Get FASTA)   NCBI Sequence Viewer  
  QBH68489 (Get FASTA)   NCBI Sequence Viewer  
  QBH68490 (Get FASTA)   NCBI Sequence Viewer  
  QBH68491 (Get FASTA)   NCBI Sequence Viewer  
  QBH68492 (Get FASTA)   NCBI Sequence Viewer  
  QBH68493 (Get FASTA)   NCBI Sequence Viewer  
  QBH68494 (Get FASTA)   NCBI Sequence Viewer  
  QBH68495 (Get FASTA)   NCBI Sequence Viewer  
  QBH68496 (Get FASTA)   NCBI Sequence Viewer  
  QBH68497 (Get FASTA)   NCBI Sequence Viewer  
  QBH68498 (Get FASTA)   NCBI Sequence Viewer  
  QBH68499 (Get FASTA)   NCBI Sequence Viewer  
  QBH68500 (Get FASTA)   NCBI Sequence Viewer  
  QBH68501 (Get FASTA)   NCBI Sequence Viewer  
  QBH68502 (Get FASTA)   NCBI Sequence Viewer  
  QBH68503 (Get FASTA)   NCBI Sequence Viewer  
  QBH68504 (Get FASTA)   NCBI Sequence Viewer  
  QBH68505 (Get FASTA)   NCBI Sequence Viewer  
  QBH68506 (Get FASTA)   NCBI Sequence Viewer  
  QBH68507 (Get FASTA)   NCBI Sequence Viewer  
  QBH68508 (Get FASTA)   NCBI Sequence Viewer  
  QBH68509 (Get FASTA)   NCBI Sequence Viewer  
  QBH68510 (Get FASTA)   NCBI Sequence Viewer  
  QBH68511 (Get FASTA)   NCBI Sequence Viewer  
  QBH68512 (Get FASTA)   NCBI Sequence Viewer  
  QBH68513 (Get FASTA)   NCBI Sequence Viewer  
  QBH68514 (Get FASTA)   NCBI Sequence Viewer  
  QBH68515 (Get FASTA)   NCBI Sequence Viewer  
  QBH68516 (Get FASTA)   NCBI Sequence Viewer  
  QBH68517 (Get FASTA)   NCBI Sequence Viewer  
  QBH68518 (Get FASTA)   NCBI Sequence Viewer  
  QBH68519 (Get FASTA)   NCBI Sequence Viewer  
  QBH68520 (Get FASTA)   NCBI Sequence Viewer  
  QBH68521 (Get FASTA)   NCBI Sequence Viewer  
  QBH68522 (Get FASTA)   NCBI Sequence Viewer  
  QBH68523 (Get FASTA)   NCBI Sequence Viewer  
  QBH68524 (Get FASTA)   NCBI Sequence Viewer  
  QBH68525 (Get FASTA)   NCBI Sequence Viewer  
  QBH68526 (Get FASTA)   NCBI Sequence Viewer  
  QBH68527 (Get FASTA)   NCBI Sequence Viewer  
  QBH68528 (Get FASTA)   NCBI Sequence Viewer  
  QBH68529 (Get FASTA)   NCBI Sequence Viewer  
  QBH68530 (Get FASTA)   NCBI Sequence Viewer  
  QBH68531 (Get FASTA)   NCBI Sequence Viewer  
  QBH68532 (Get FASTA)   NCBI Sequence Viewer  
  QBH68533 (Get FASTA)   NCBI Sequence Viewer  
  QBH68534 (Get FASTA)   NCBI Sequence Viewer  
  QBH68535 (Get FASTA)   NCBI Sequence Viewer  
  QBH68536 (Get FASTA)   NCBI Sequence Viewer  
  QBH68537 (Get FASTA)   NCBI Sequence Viewer  
  QBH68538 (Get FASTA)   NCBI Sequence Viewer  
  QBH68539 (Get FASTA)   NCBI Sequence Viewer  
  QBH68540 (Get FASTA)   NCBI Sequence Viewer  
  QBH68541 (Get FASTA)   NCBI Sequence Viewer  
  QBH68542 (Get FASTA)   NCBI Sequence Viewer  
  QBH68543 (Get FASTA)   NCBI Sequence Viewer  
  QBH68544 (Get FASTA)   NCBI Sequence Viewer  
  QBH68545 (Get FASTA)   NCBI Sequence Viewer  
  QBH68546 (Get FASTA)   NCBI Sequence Viewer  
  QBH68547 (Get FASTA)   NCBI Sequence Viewer  
  QBH68548 (Get FASTA)   NCBI Sequence Viewer  
  QBH68549 (Get FASTA)   NCBI Sequence Viewer  
  QBH68550 (Get FASTA)   NCBI Sequence Viewer  
  QBH68551 (Get FASTA)   NCBI Sequence Viewer  
  QBH68552 (Get FASTA)   NCBI Sequence Viewer  
  QBH68553 (Get FASTA)   NCBI Sequence Viewer  
  QBH68554 (Get FASTA)   NCBI Sequence Viewer  
  QBH68555 (Get FASTA)   NCBI Sequence Viewer  
  QBH68556 (Get FASTA)   NCBI Sequence Viewer  
  QBH68557 (Get FASTA)   NCBI Sequence Viewer  
  QBH68558 (Get FASTA)   NCBI Sequence Viewer  
  QBH68559 (Get FASTA)   NCBI Sequence Viewer  
  QBH68560 (Get FASTA)   NCBI Sequence Viewer  
  QBH68561 (Get FASTA)   NCBI Sequence Viewer  
  QBH68562 (Get FASTA)   NCBI Sequence Viewer  
  QBH68563 (Get FASTA)   NCBI Sequence Viewer  
  QBH68564 (Get FASTA)   NCBI Sequence Viewer  
  QBH68565 (Get FASTA)   NCBI Sequence Viewer  
  QBH68566 (Get FASTA)   NCBI Sequence Viewer  
  QBH68567 (Get FASTA)   NCBI Sequence Viewer  
  QBH68568 (Get FASTA)   NCBI Sequence Viewer  
  QBH68569 (Get FASTA)   NCBI Sequence Viewer  
  QBH68570 (Get FASTA)   NCBI Sequence Viewer  
  QBH68571 (Get FASTA)   NCBI Sequence Viewer  
  QBH68572 (Get FASTA)   NCBI Sequence Viewer  
  QBH68573 (Get FASTA)   NCBI Sequence Viewer  
  QBH68574 (Get FASTA)   NCBI Sequence Viewer  
  QBH68575 (Get FASTA)   NCBI Sequence Viewer  
  QBH68576 (Get FASTA)   NCBI Sequence Viewer  
  QBH68577 (Get FASTA)   NCBI Sequence Viewer  
  QBH68578 (Get FASTA)   NCBI Sequence Viewer  
  QBH68579 (Get FASTA)   NCBI Sequence Viewer  
  QBH68580 (Get FASTA)   NCBI Sequence Viewer  
  QBH68581 (Get FASTA)   NCBI Sequence Viewer  
  QBH68582 (Get FASTA)   NCBI Sequence Viewer  
  QBH68583 (Get FASTA)   NCBI Sequence Viewer  
  QBH68584 (Get FASTA)   NCBI Sequence Viewer  
  QBH68585 (Get FASTA)   NCBI Sequence Viewer  
  QBH68586 (Get FASTA)   NCBI Sequence Viewer  
  QBH68587 (Get FASTA)   NCBI Sequence Viewer  
  QBH68588 (Get FASTA)   NCBI Sequence Viewer  
  QBH68589 (Get FASTA)   NCBI Sequence Viewer  
  QBH68590 (Get FASTA)   NCBI Sequence Viewer  
  QBH68591 (Get FASTA)   NCBI Sequence Viewer  
  QBH68592 (Get FASTA)   NCBI Sequence Viewer  
  QBH68593 (Get FASTA)   NCBI Sequence Viewer  
  QBH68594 (Get FASTA)   NCBI Sequence Viewer  
  QBH68595 (Get FASTA)   NCBI Sequence Viewer  
  QBH68596 (Get FASTA)   NCBI Sequence Viewer  
  QBH68597 (Get FASTA)   NCBI Sequence Viewer  
  QBH68598 (Get FASTA)   NCBI Sequence Viewer  
  QBH68599 (Get FASTA)   NCBI Sequence Viewer  
  QBH68600 (Get FASTA)   NCBI Sequence Viewer  
  QBH68601 (Get FASTA)   NCBI Sequence Viewer  
  QBH68602 (Get FASTA)   NCBI Sequence Viewer  
  QBH68603 (Get FASTA)   NCBI Sequence Viewer  
  QBH68604 (Get FASTA)   NCBI Sequence Viewer  
  QBH68605 (Get FASTA)   NCBI Sequence Viewer  
  QBH68606 (Get FASTA)   NCBI Sequence Viewer  
  QBH68607 (Get FASTA)   NCBI Sequence Viewer  
  QBH68608 (Get FASTA)   NCBI Sequence Viewer  
  QBH68609 (Get FASTA)   NCBI Sequence Viewer  
  QBH68610 (Get FASTA)   NCBI Sequence Viewer  
  QBH68611 (Get FASTA)   NCBI Sequence Viewer  
  QBH68612 (Get FASTA)   NCBI Sequence Viewer  
  QBH68613 (Get FASTA)   NCBI Sequence Viewer  
  QBH68614 (Get FASTA)   NCBI Sequence Viewer  
  QBH68615 (Get FASTA)   NCBI Sequence Viewer  
  QBH68616 (Get FASTA)   NCBI Sequence Viewer  
  QBH68617 (Get FASTA)   NCBI Sequence Viewer  
  QBH68618 (Get FASTA)   NCBI Sequence Viewer  
  QBH68619 (Get FASTA)   NCBI Sequence Viewer  
  QBH68620 (Get FASTA)   NCBI Sequence Viewer  
  QBH68621 (Get FASTA)   NCBI Sequence Viewer  
  QBH68622 (Get FASTA)   NCBI Sequence Viewer  
  QBH68623 (Get FASTA)   NCBI Sequence Viewer  
  QBH68624 (Get FASTA)   NCBI Sequence Viewer  
  QBH68625 (Get FASTA)   NCBI Sequence Viewer  
  QBH68626 (Get FASTA)   NCBI Sequence Viewer  
  QBH68627 (Get FASTA)   NCBI Sequence Viewer  
  QBH68628 (Get FASTA)   NCBI Sequence Viewer  
  QBH68629 (Get FASTA)   NCBI Sequence Viewer  
  QBH68630 (Get FASTA)   NCBI Sequence Viewer  
  QBH68631 (Get FASTA)   NCBI Sequence Viewer  
  QBH68632 (Get FASTA)   NCBI Sequence Viewer  
  QBH68633 (Get FASTA)   NCBI Sequence Viewer  
  QBH68634 (Get FASTA)   NCBI Sequence Viewer  
  QBH68635 (Get FASTA)   NCBI Sequence Viewer  
  QBH68636 (Get FASTA)   NCBI Sequence Viewer  
  QBH68637 (Get FASTA)   NCBI Sequence Viewer  
  QBH68638 (Get FASTA)   NCBI Sequence Viewer  
  QBH68639 (Get FASTA)   NCBI Sequence Viewer  
  QBH68640 (Get FASTA)   NCBI Sequence Viewer  
  QBH68641 (Get FASTA)   NCBI Sequence Viewer  
  QBH68642 (Get FASTA)   NCBI Sequence Viewer  
  QBH68643 (Get FASTA)   NCBI Sequence Viewer  
  QBH68644 (Get FASTA)   NCBI Sequence Viewer  
  QBH68645 (Get FASTA)   NCBI Sequence Viewer  
  QBH68646 (Get FASTA)   NCBI Sequence Viewer  
  QBH68647 (Get FASTA)   NCBI Sequence Viewer  
  QBH68648 (Get FASTA)   NCBI Sequence Viewer  
  QBH68649 (Get FASTA)   NCBI Sequence Viewer  
  QBH68650 (Get FASTA)   NCBI Sequence Viewer  
  QBH68651 (Get FASTA)   NCBI Sequence Viewer  
  QBH68652 (Get FASTA)   NCBI Sequence Viewer  
  QBH68653 (Get FASTA)   NCBI Sequence Viewer  
  QBH68654 (Get FASTA)   NCBI Sequence Viewer  
  QBH68655 (Get FASTA)   NCBI Sequence Viewer  
  QBH68656 (Get FASTA)   NCBI Sequence Viewer  
  QBH68657 (Get FASTA)   NCBI Sequence Viewer  
  QBH68658 (Get FASTA)   NCBI Sequence Viewer  
  QBH68659 (Get FASTA)   NCBI Sequence Viewer  
  QBH68660 (Get FASTA)   NCBI Sequence Viewer  
  QBH68661 (Get FASTA)   NCBI Sequence Viewer  
  QBH68662 (Get FASTA)   NCBI Sequence Viewer  
  QBH68663 (Get FASTA)   NCBI Sequence Viewer  
  QBH68664 (Get FASTA)   NCBI Sequence Viewer  
  QBH68665 (Get FASTA)   NCBI Sequence Viewer  
  QBH68666 (Get FASTA)   NCBI Sequence Viewer  
  QBH68667 (Get FASTA)   NCBI Sequence Viewer  
  QBH68668 (Get FASTA)   NCBI Sequence Viewer  
  QBH68669 (Get FASTA)   NCBI Sequence Viewer  
  QBH68670 (Get FASTA)   NCBI Sequence Viewer  
  QBH68671 (Get FASTA)   NCBI Sequence Viewer  
  QBH68672 (Get FASTA)   NCBI Sequence Viewer  
  QBH68673 (Get FASTA)   NCBI Sequence Viewer  
  QBH68674 (Get FASTA)   NCBI Sequence Viewer  
  QBH68675 (Get FASTA)   NCBI Sequence Viewer  
  QBH68676 (Get FASTA)   NCBI Sequence Viewer  
  QBH68677 (Get FASTA)   NCBI Sequence Viewer  
  QBH68678 (Get FASTA)   NCBI Sequence Viewer  
  QBH68679 (Get FASTA)   NCBI Sequence Viewer  
  QBH68680 (Get FASTA)   NCBI Sequence Viewer  
  QBH68681 (Get FASTA)   NCBI Sequence Viewer  
  QBH68682 (Get FASTA)   NCBI Sequence Viewer  
  QBH68683 (Get FASTA)   NCBI Sequence Viewer  
  QBH68684 (Get FASTA)   NCBI Sequence Viewer  
  QBH68685 (Get FASTA)   NCBI Sequence Viewer  
  QBH68686 (Get FASTA)   NCBI Sequence Viewer  
  QBH68687 (Get FASTA)   NCBI Sequence Viewer  
  QBH68688 (Get FASTA)   NCBI Sequence Viewer  
  QBH68689 (Get FASTA)   NCBI Sequence Viewer  
  QBH68690 (Get FASTA)   NCBI Sequence Viewer  
  QBH68691 (Get FASTA)   NCBI Sequence Viewer  
  QBH68692 (Get FASTA)   NCBI Sequence Viewer  
  QBH68693 (Get FASTA)   NCBI Sequence Viewer  
  QBH68694 (Get FASTA)   NCBI Sequence Viewer  
  QBH68695 (Get FASTA)   NCBI Sequence Viewer  
  QBH68696 (Get FASTA)   NCBI Sequence Viewer  
  QBH68697 (Get FASTA)   NCBI Sequence Viewer  
  QBH68698 (Get FASTA)   NCBI Sequence Viewer  
  QBH68699 (Get FASTA)   NCBI Sequence Viewer  
  QBH68700 (Get FASTA)   NCBI Sequence Viewer  
  QBH68701 (Get FASTA)   NCBI Sequence Viewer  
  QBH68702 (Get FASTA)   NCBI Sequence Viewer  
  QBH68703 (Get FASTA)   NCBI Sequence Viewer  
  QBH68704 (Get FASTA)   NCBI Sequence Viewer  
  QBH68705 (Get FASTA)   NCBI Sequence Viewer  
  QBH68706 (Get FASTA)   NCBI Sequence Viewer  
  QBH68707 (Get FASTA)   NCBI Sequence Viewer  
  QBH68708 (Get FASTA)   NCBI Sequence Viewer  
  QBH68709 (Get FASTA)   NCBI Sequence Viewer  
  QBH68710 (Get FASTA)   NCBI Sequence Viewer  
  QBH68711 (Get FASTA)   NCBI Sequence Viewer  
  QBH68712 (Get FASTA)   NCBI Sequence Viewer  
  QBH68713 (Get FASTA)   NCBI Sequence Viewer  
  QBH68714 (Get FASTA)   NCBI Sequence Viewer  
  QBH68715 (Get FASTA)   NCBI Sequence Viewer  
  QBH68716 (Get FASTA)   NCBI Sequence Viewer  
  QBH68717 (Get FASTA)   NCBI Sequence Viewer  
  QBH68718 (Get FASTA)   NCBI Sequence Viewer  
  QBH68719 (Get FASTA)   NCBI Sequence Viewer  
  QBH68720 (Get FASTA)   NCBI Sequence Viewer  
  QBH68721 (Get FASTA)   NCBI Sequence Viewer  
  QBH68722 (Get FASTA)   NCBI Sequence Viewer  
  QBH68723 (Get FASTA)   NCBI Sequence Viewer  
  QBH68724 (Get FASTA)   NCBI Sequence Viewer  
  QBH68725 (Get FASTA)   NCBI Sequence Viewer  
  QBH68726 (Get FASTA)   NCBI Sequence Viewer  
  QBH68727 (Get FASTA)   NCBI Sequence Viewer  
  QBH68728 (Get FASTA)   NCBI Sequence Viewer  
  QBH68729 (Get FASTA)   NCBI Sequence Viewer  
  QBH68730 (Get FASTA)   NCBI Sequence Viewer  
  QBH68731 (Get FASTA)   NCBI Sequence Viewer  
  QBH68732 (Get FASTA)   NCBI Sequence Viewer  
  QBH68733 (Get FASTA)   NCBI Sequence Viewer  
  QBH68734 (Get FASTA)   NCBI Sequence Viewer  
  QBH68735 (Get FASTA)   NCBI Sequence Viewer  
  QBH68736 (Get FASTA)   NCBI Sequence Viewer  
  QBH68737 (Get FASTA)   NCBI Sequence Viewer  
  QBH68738 (Get FASTA)   NCBI Sequence Viewer  
  QBH68739 (Get FASTA)   NCBI Sequence Viewer  
  QBH68740 (Get FASTA)   NCBI Sequence Viewer  
  QBH68741 (Get FASTA)   NCBI Sequence Viewer  
  QBH68742 (Get FASTA)   NCBI Sequence Viewer  
  QBH68743 (Get FASTA)   NCBI Sequence Viewer  
  QBH68744 (Get FASTA)   NCBI Sequence Viewer  
  QBH68745 (Get FASTA)   NCBI Sequence Viewer  
  QBH68746 (Get FASTA)   NCBI Sequence Viewer  
  QBH68747 (Get FASTA)   NCBI Sequence Viewer  
  QBH68748 (Get FASTA)   NCBI Sequence Viewer  
  QBH68749 (Get FASTA)   NCBI Sequence Viewer  
  QBH68750 (Get FASTA)   NCBI Sequence Viewer  
  QBH68751 (Get FASTA)   NCBI Sequence Viewer  
  QBH68752 (Get FASTA)   NCBI Sequence Viewer  
  QBH68753 (Get FASTA)   NCBI Sequence Viewer  
  QBH68754 (Get FASTA)   NCBI Sequence Viewer  
  QBH68755 (Get FASTA)   NCBI Sequence Viewer  
  QBH68756 (Get FASTA)   NCBI Sequence Viewer  
  QBH68757 (Get FASTA)   NCBI Sequence Viewer  
  QBH68758 (Get FASTA)   NCBI Sequence Viewer  
  QBH68759 (Get FASTA)   NCBI Sequence Viewer  
  QBH68760 (Get FASTA)   NCBI Sequence Viewer  
  QBH68761 (Get FASTA)   NCBI Sequence Viewer  
  QBH68762 (Get FASTA)   NCBI Sequence Viewer  
  QBH68763 (Get FASTA)   NCBI Sequence Viewer  
  QBH68764 (Get FASTA)   NCBI Sequence Viewer  
  QBH68765 (Get FASTA)   NCBI Sequence Viewer  
  QBH68766 (Get FASTA)   NCBI Sequence Viewer  
  QBH68767 (Get FASTA)   NCBI Sequence Viewer  
  QBH68768 (Get FASTA)   NCBI Sequence Viewer  
  QBH68769 (Get FASTA)   NCBI Sequence Viewer  
  QBH68770 (Get FASTA)   NCBI Sequence Viewer  
  QBH68771 (Get FASTA)   NCBI Sequence Viewer  
  QBH68772 (Get FASTA)   NCBI Sequence Viewer  
  QBH68773 (Get FASTA)   NCBI Sequence Viewer  
  QBH68774 (Get FASTA)   NCBI Sequence Viewer  
  QBH68775 (Get FASTA)   NCBI Sequence Viewer  
  QBH68776 (Get FASTA)   NCBI Sequence Viewer  
  QBH68777 (Get FASTA)   NCBI Sequence Viewer  
  QBH68778 (Get FASTA)   NCBI Sequence Viewer  
  QBH68779 (Get FASTA)   NCBI Sequence Viewer  
  QBH68780 (Get FASTA)   NCBI Sequence Viewer  
  QBH68781 (Get FASTA)   NCBI Sequence Viewer  
  QBH68782 (Get FASTA)   NCBI Sequence Viewer  
  QBH68783 (Get FASTA)   NCBI Sequence Viewer  
  QBH68784 (Get FASTA)   NCBI Sequence Viewer  
  QBH68785 (Get FASTA)   NCBI Sequence Viewer  
  QBH68786 (Get FASTA)   NCBI Sequence Viewer  
  QBH68787 (Get FASTA)   NCBI Sequence Viewer  
  QBH68788 (Get FASTA)   NCBI Sequence Viewer  
  QBH68789 (Get FASTA)   NCBI Sequence Viewer  
  QBH68790 (Get FASTA)   NCBI Sequence Viewer  
  QBH68791 (Get FASTA)   NCBI Sequence Viewer  
  QBH68792 (Get FASTA)   NCBI Sequence Viewer  
  QBH68793 (Get FASTA)   NCBI Sequence Viewer  
  QBH68794 (Get FASTA)   NCBI Sequence Viewer  
  QBH68795 (Get FASTA)   NCBI Sequence Viewer  
  QBH68796 (Get FASTA)   NCBI Sequence Viewer  
  QBH68797 (Get FASTA)   NCBI Sequence Viewer  
  QBH68798 (Get FASTA)   NCBI Sequence Viewer  
  QBH68799 (Get FASTA)   NCBI Sequence Viewer  
  QBH68800 (Get FASTA)   NCBI Sequence Viewer  
  QBH68801 (Get FASTA)   NCBI Sequence Viewer  
  QBH68802 (Get FASTA)   NCBI Sequence Viewer  
  QBH68803 (Get FASTA)   NCBI Sequence Viewer  
  QBH68804 (Get FASTA)   NCBI Sequence Viewer  
  QBH68805 (Get FASTA)   NCBI Sequence Viewer  
  QBH68806 (Get FASTA)   NCBI Sequence Viewer  
  QBH68807 (Get FASTA)   NCBI Sequence Viewer  
  QBH68808 (Get FASTA)   NCBI Sequence Viewer  
  QBH68809 (Get FASTA)   NCBI Sequence Viewer  
  QBH68810 (Get FASTA)   NCBI Sequence Viewer  
  QBH68811 (Get FASTA)   NCBI Sequence Viewer  
  QBH68812 (Get FASTA)   NCBI Sequence Viewer  
  QBH68813 (Get FASTA)   NCBI Sequence Viewer  
  QBH68814 (Get FASTA)   NCBI Sequence Viewer  
  QBH68815 (Get FASTA)   NCBI Sequence Viewer  
  QBH68816 (Get FASTA)   NCBI Sequence Viewer  
  QBH68817 (Get FASTA)   NCBI Sequence Viewer  
  QBH68818 (Get FASTA)   NCBI Sequence Viewer  
  QBH68819 (Get FASTA)   NCBI Sequence Viewer  
  QBH68820 (Get FASTA)   NCBI Sequence Viewer  
  QBH68821 (Get FASTA)   NCBI Sequence Viewer  
  QBH68822 (Get FASTA)   NCBI Sequence Viewer  
  QBH68823 (Get FASTA)   NCBI Sequence Viewer  
  QBH68824 (Get FASTA)   NCBI Sequence Viewer  
  QBH68825 (Get FASTA)   NCBI Sequence Viewer  
  QBH68826 (Get FASTA)   NCBI Sequence Viewer  
  QBH68827 (Get FASTA)   NCBI Sequence Viewer  
  QBH68828 (Get FASTA)   NCBI Sequence Viewer  
  QBH68829 (Get FASTA)   NCBI Sequence Viewer  
  QBH68830 (Get FASTA)   NCBI Sequence Viewer  
  QBH68831 (Get FASTA)   NCBI Sequence Viewer  
  QBH68832 (Get FASTA)   NCBI Sequence Viewer  
  QBH68833 (Get FASTA)   NCBI Sequence Viewer  
  QBH68834 (Get FASTA)   NCBI Sequence Viewer  
  QBH68835 (Get FASTA)   NCBI Sequence Viewer  
  QBH68836 (Get FASTA)   NCBI Sequence Viewer  
  QBH68837 (Get FASTA)   NCBI Sequence Viewer  
  QBH68838 (Get FASTA)   NCBI Sequence Viewer  
  QBH68839 (Get FASTA)   NCBI Sequence Viewer  
  QBH68840 (Get FASTA)   NCBI Sequence Viewer  
  QBH68841 (Get FASTA)   NCBI Sequence Viewer  
  QBH68842 (Get FASTA)   NCBI Sequence Viewer  
  QBH68843 (Get FASTA)   NCBI Sequence Viewer  
  QBH68844 (Get FASTA)   NCBI Sequence Viewer  
  QBH68845 (Get FASTA)   NCBI Sequence Viewer  
  QBH68846 (Get FASTA)   NCBI Sequence Viewer  
  QBH68847 (Get FASTA)   NCBI Sequence Viewer  
  QBH68848 (Get FASTA)   NCBI Sequence Viewer  
  QBH68849 (Get FASTA)   NCBI Sequence Viewer  
  QBH68850 (Get FASTA)   NCBI Sequence Viewer  
  QBH68851 (Get FASTA)   NCBI Sequence Viewer  
  QBH68852 (Get FASTA)   NCBI Sequence Viewer  
  QBH68853 (Get FASTA)   NCBI Sequence Viewer  
  QBH68854 (Get FASTA)   NCBI Sequence Viewer  
  QBH68855 (Get FASTA)   NCBI Sequence Viewer  
  QBH68856 (Get FASTA)   NCBI Sequence Viewer  
  QBH68857 (Get FASTA)   NCBI Sequence Viewer  
  QBH68858 (Get FASTA)   NCBI Sequence Viewer  
  QBH68859 (Get FASTA)   NCBI Sequence Viewer  
  QBH68860 (Get FASTA)   NCBI Sequence Viewer  
  QBH68861 (Get FASTA)   NCBI Sequence Viewer  
  QBH68862 (Get FASTA)   NCBI Sequence Viewer  
  QBH68863 (Get FASTA)   NCBI Sequence Viewer  
  QBH68864 (Get FASTA)   NCBI Sequence Viewer  
  QBH68865 (Get FASTA)   NCBI Sequence Viewer  
  QBH68866 (Get FASTA)   NCBI Sequence Viewer  
  QBH68867 (Get FASTA)   NCBI Sequence Viewer  
  QBH68868 (Get FASTA)   NCBI Sequence Viewer  
  QBH68869 (Get FASTA)   NCBI Sequence Viewer  
  QBH68870 (Get FASTA)   NCBI Sequence Viewer  
  QBH68871 (Get FASTA)   NCBI Sequence Viewer  
  QBH68872 (Get FASTA)   NCBI Sequence Viewer  
  QBH68873 (Get FASTA)   NCBI Sequence Viewer  
  QBH68874 (Get FASTA)   NCBI Sequence Viewer  
  QBH68875 (Get FASTA)   NCBI Sequence Viewer  
  QBH68876 (Get FASTA)   NCBI Sequence Viewer  
  QBH68877 (Get FASTA)   NCBI Sequence Viewer  
  QBH68878 (Get FASTA)   NCBI Sequence Viewer  
  QBH68879 (Get FASTA)   NCBI Sequence Viewer  
  QBH68880 (Get FASTA)   NCBI Sequence Viewer  
  QBH68881 (Get FASTA)   NCBI Sequence Viewer  
  QBH68882 (Get FASTA)   NCBI Sequence Viewer  
  QBH68883 (Get FASTA)   NCBI Sequence Viewer  
  QBH68884 (Get FASTA)   NCBI Sequence Viewer  
  QBH68885 (Get FASTA)   NCBI Sequence Viewer  
  QBH68886 (Get FASTA)   NCBI Sequence Viewer  
  QBH68887 (Get FASTA)   NCBI Sequence Viewer  
  QBH68888 (Get FASTA)   NCBI Sequence Viewer  
  QBH68889 (Get FASTA)   NCBI Sequence Viewer  
  QBH68890 (Get FASTA)   NCBI Sequence Viewer  
  QBH68891 (Get FASTA)   NCBI Sequence Viewer  
  QBH68892 (Get FASTA)   NCBI Sequence Viewer  
  QBH68893 (Get FASTA)   NCBI Sequence Viewer  
  QBH68894 (Get FASTA)   NCBI Sequence Viewer  
  QBH68895 (Get FASTA)   NCBI Sequence Viewer  
  QBH68896 (Get FASTA)   NCBI Sequence Viewer  
  QBH68897 (Get FASTA)   NCBI Sequence Viewer  
  QBH68898 (Get FASTA)   NCBI Sequence Viewer  
  QBH68899 (Get FASTA)   NCBI Sequence Viewer  
  QBH68900 (Get FASTA)   NCBI Sequence Viewer  
  QBH68901 (Get FASTA)   NCBI Sequence Viewer  
  QBH68902 (Get FASTA)   NCBI Sequence Viewer  
  QBH68903 (Get FASTA)   NCBI Sequence Viewer  
  QBH68904 (Get FASTA)   NCBI Sequence Viewer  
  QBH68905 (Get FASTA)   NCBI Sequence Viewer  
  QBH68906 (Get FASTA)   NCBI Sequence Viewer  
  QBH68907 (Get FASTA)   NCBI Sequence Viewer  
  QBH68908 (Get FASTA)   NCBI Sequence Viewer  
  QBH68909 (Get FASTA)   NCBI Sequence Viewer  
  QBH68910 (Get FASTA)   NCBI Sequence Viewer  
  QBH68911 (Get FASTA)   NCBI Sequence Viewer  
  QBH68912 (Get FASTA)   NCBI Sequence Viewer  
  QBH68913 (Get FASTA)   NCBI Sequence Viewer  
  QBH68914 (Get FASTA)   NCBI Sequence Viewer  
  QBH68915 (Get FASTA)   NCBI Sequence Viewer  
  QBH68916 (Get FASTA)   NCBI Sequence Viewer  
  QBH68917 (Get FASTA)   NCBI Sequence Viewer  
  QBH68918 (Get FASTA)   NCBI Sequence Viewer  
  QBH68919 (Get FASTA)   NCBI Sequence Viewer  
  QBH68920 (Get FASTA)   NCBI Sequence Viewer  
  QBH68921 (Get FASTA)   NCBI Sequence Viewer  
  QBH68922 (Get FASTA)   NCBI Sequence Viewer  
  QBH68923 (Get FASTA)   NCBI Sequence Viewer  
  QBH68924 (Get FASTA)   NCBI Sequence Viewer  
  QBH68925 (Get FASTA)   NCBI Sequence Viewer  
  QBH68926 (Get FASTA)   NCBI Sequence Viewer  
  QBH68927 (Get FASTA)   NCBI Sequence Viewer  
  QBH68928 (Get FASTA)   NCBI Sequence Viewer  
  QBH68929 (Get FASTA)   NCBI Sequence Viewer  
  QBH68930 (Get FASTA)   NCBI Sequence Viewer  
  QBH68931 (Get FASTA)   NCBI Sequence Viewer  
  QBH68932 (Get FASTA)   NCBI Sequence Viewer  
  QBH68933 (Get FASTA)   NCBI Sequence Viewer  
  QBH68934 (Get FASTA)   NCBI Sequence Viewer  
  QBH68935 (Get FASTA)   NCBI Sequence Viewer  
  QBH68936 (Get FASTA)   NCBI Sequence Viewer  
  QBH68937 (Get FASTA)   NCBI Sequence Viewer  
  QBH68938 (Get FASTA)   NCBI Sequence Viewer  
  QBH68939 (Get FASTA)   NCBI Sequence Viewer  
  QBH68940 (Get FASTA)   NCBI Sequence Viewer  
  QBH68941 (Get FASTA)   NCBI Sequence Viewer  
  QBH68942 (Get FASTA)   NCBI Sequence Viewer  
  QBH68943 (Get FASTA)   NCBI Sequence Viewer  
  QBP05152 (Get FASTA)   NCBI Sequence Viewer  
  QFU19115 (Get FASTA)   NCBI Sequence Viewer  
  QGT76553 (Get FASTA)   NCBI Sequence Viewer  
  QGT76554 (Get FASTA)   NCBI Sequence Viewer  
  ULD54880 (Get FASTA)   NCBI Sequence Viewer  
  ULD54881 (Get FASTA)   NCBI Sequence Viewer  
  ULD54882 (Get FASTA)   NCBI Sequence Viewer  
  ULD54883 (Get FASTA)   NCBI Sequence Viewer  
  ULD54884 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07646 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07647 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07648 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07649 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07650 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07651 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07652 (Get FASTA)   NCBI Sequence Viewer  
  WCL16167 (Get FASTA)   NCBI Sequence Viewer  
  WCL16168 (Get FASTA)   NCBI Sequence Viewer  
  WCL16169 (Get FASTA)   NCBI Sequence Viewer  
  WCL16170 (Get FASTA)   NCBI Sequence Viewer  
  WCL16171 (Get FASTA)   NCBI Sequence Viewer  
  WCL16172 (Get FASTA)   NCBI Sequence Viewer  
  WCL16173 (Get FASTA)   NCBI Sequence Viewer  
  WCL16174 (Get FASTA)   NCBI Sequence Viewer  
  WCL16175 (Get FASTA)   NCBI Sequence Viewer  
  WCL16176 (Get FASTA)   NCBI Sequence Viewer  
  WCL16177 (Get FASTA)   NCBI Sequence Viewer  
  WCL16178 (Get FASTA)   NCBI Sequence Viewer  
  WCL16179 (Get FASTA)   NCBI Sequence Viewer  
  WCL16180 (Get FASTA)   NCBI Sequence Viewer  
  WCL16181 (Get FASTA)   NCBI Sequence Viewer  
  WCL16182 (Get FASTA)   NCBI Sequence Viewer  
  WCL16183 (Get FASTA)   NCBI Sequence Viewer  
  WCL16184 (Get FASTA)   NCBI Sequence Viewer  
  WCL16185 (Get FASTA)   NCBI Sequence Viewer  
  WCL16186 (Get FASTA)   NCBI Sequence Viewer  
  WCL16187 (Get FASTA)   NCBI Sequence Viewer  
  WCL16188 (Get FASTA)   NCBI Sequence Viewer  
  WCL16189 (Get FASTA)   NCBI Sequence Viewer  
  WCL16190 (Get FASTA)   NCBI Sequence Viewer  
  WCL16191 (Get FASTA)   NCBI Sequence Viewer  
  XEF57200 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000509   ⟸   NM_000518
- UniProtKB: Q9UCP8 (UniProtKB/Swiss-Prot),   Q9UCD6 (UniProtKB/Swiss-Prot),   Q9BX96 (UniProtKB/Swiss-Prot),   Q8IZI1 (UniProtKB/Swiss-Prot),   Q6R7N2 (UniProtKB/Swiss-Prot),   Q6FI08 (UniProtKB/Swiss-Prot),   Q549N7 (UniProtKB/Swiss-Prot),   Q45KT0 (UniProtKB/Swiss-Prot),   Q14510 (UniProtKB/Swiss-Prot),   Q14481 (UniProtKB/Swiss-Prot),   Q13852 (UniProtKB/Swiss-Prot),   P02023 (UniProtKB/Swiss-Prot),   B2ZUE0 (UniProtKB/Swiss-Prot),   A4GX73 (UniProtKB/Swiss-Prot),   Q9UCP9 (UniProtKB/Swiss-Prot),   P68871 (UniProtKB/Swiss-Prot),   D9YZU5 (UniProtKB/TrEMBL),   A0A481SHK9 (UniProtKB/TrEMBL),   C8C504 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000333994   ⟸   ENST00000335295
Ensembl Acc Id: ENSP00000496200   ⟸   ENST00000485743
Ensembl Acc Id: ENSP00000369671   ⟸   ENST00000380315
Ensembl Acc Id: ENSP00000494175   ⟸   ENST00000647020
Ensembl Acc Id: ENSP00000488004   ⟸   ENST00000633227
Protein Domains
GLOBIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P68871-F1-model_v2 AlphaFold P68871 1-147 view protein structure

Promoters
RGD ID:6849670
Promoter ID:EP11104
Type:single initiation site
Name:HS_HBB
Description:beta-globin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 32; Mammalian beta-like globins group 1.
Tissues & Cell Lines:adult, bone marrow, erythroid cells
Experiment Methods:Direct RNA sequencing; Sequencing of a full-length cDNA; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36115,204,877 - 5,204,937EPD
RGD ID:7219425
Promoter ID:EPDNEW_H15458
Type:initiation region
Name:HBB_1
Description:hemoglobin subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15459  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38115,227,071 - 5,227,131EPDNEW
RGD ID:7219427
Promoter ID:EPDNEW_H15459
Type:initiation region
Name:HBB_2
Description:hemoglobin subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15458  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38115,234,483 - 5,234,543EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4827 AgrOrtholog
COSMIC HBB COSMIC
Ensembl Genes ENSG00000244734 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335295 ENTREZGENE
  ENST00000335295.4 UniProtKB/Swiss-Prot
  ENST00000647020.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.490.10 UniProtKB/Swiss-Prot
GTEx ENSG00000244734 GTEx
HGNC ID HGNC:4827 ENTREZGENE
Human Proteome Map HBB Human Proteome Map
InterPro Globin UniProtKB/Swiss-Prot
  Globin-like_sf UniProtKB/Swiss-Prot
  Globin/Proto UniProtKB/Swiss-Prot
  Haemoglobin_b UniProtKB/Swiss-Prot
  Hemoglobin_oxygen_transport UniProtKB/Swiss-Prot
KEGG Report hsa:3043 UniProtKB/Swiss-Prot
NCBI Gene 3043 ENTREZGENE
OMIM 141900 OMIM
PANTHER HEMOGLOBIN FAMILY MEMBER UniProtKB/Swiss-Prot
  HEMOGLOBIN SUBUNIT BETA UniProtKB/Swiss-Prot
Pfam Globin UniProtKB/Swiss-Prot
PharmGKB PA29202 PharmGKB
PRINTS BETAHAEM UniProtKB/Swiss-Prot
PROSITE GLOBIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46458 UniProtKB/Swiss-Prot
UniProt A0A0J9YWK4_HUMAN UniProtKB/TrEMBL
  A0A140KFU0_HUMAN UniProtKB/TrEMBL
  A0A1B4WRL5_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7R2_HUMAN UniProtKB/TrEMBL
  A0A2S1CVU8_HUMAN UniProtKB/TrEMBL
  A0A3G5AXY7_HUMAN UniProtKB/TrEMBL
  A0A3G9CLN8_HUMAN UniProtKB/TrEMBL
  A0A481SHK9 ENTREZGENE, UniProtKB/TrEMBL
  A1YZ08_HUMAN UniProtKB/TrEMBL
  A4GX73 ENTREZGENE
  A9YUX2_HUMAN UniProtKB/TrEMBL
  B2M0Y1_HUMAN UniProtKB/TrEMBL
  B2M1S6_HUMAN UniProtKB/TrEMBL
  B2M1S7_HUMAN UniProtKB/TrEMBL
  B2ZUE0 ENTREZGENE
  B3VL86_HUMAN UniProtKB/TrEMBL
  B5ANL9_HUMAN UniProtKB/TrEMBL
  C8C504 ENTREZGENE, UniProtKB/TrEMBL
  D9YZU5 ENTREZGENE, UniProtKB/TrEMBL
  E9M263_HUMAN UniProtKB/TrEMBL
  E9NGZ5_HUMAN UniProtKB/TrEMBL
  F8W6P5_HUMAN UniProtKB/TrEMBL
  HBB_HUMAN UniProtKB/Swiss-Prot
  J7LKS8_HUMAN UniProtKB/TrEMBL
  O95408_HUMAN UniProtKB/TrEMBL
  O95412_HUMAN UniProtKB/TrEMBL
  P02023 ENTREZGENE
  P68871 ENTREZGENE
  Q0Z944_HUMAN UniProtKB/TrEMBL
  Q13852 ENTREZGENE
  Q14477_HUMAN UniProtKB/TrEMBL
  Q14481 ENTREZGENE
  Q14484_HUMAN UniProtKB/TrEMBL
  Q14510 ENTREZGENE
  Q2XP30_HUMAN UniProtKB/TrEMBL
  Q3LR79_HUMAN UniProtKB/TrEMBL
  Q3Y9I8_HUMAN UniProtKB/TrEMBL
  Q45KT0 ENTREZGENE
  Q4JLR8_HUMAN UniProtKB/TrEMBL
  Q4TWB7_HUMAN UniProtKB/TrEMBL
  Q4TZM4_HUMAN UniProtKB/TrEMBL
  Q52MT0_HUMAN UniProtKB/TrEMBL
  Q549N7 ENTREZGENE
  Q5GMQ1_HUMAN UniProtKB/TrEMBL
  Q6FI08 ENTREZGENE
  Q6J1Z7_HUMAN UniProtKB/TrEMBL
  Q6J1Z8_HUMAN UniProtKB/TrEMBL
  Q6R7N2 ENTREZGENE
  Q6V0K9_HUMAN UniProtKB/TrEMBL
  Q6VFQ5_HUMAN UniProtKB/TrEMBL
  Q6VFQ6_HUMAN UniProtKB/TrEMBL
  Q7Z2K5_HUMAN UniProtKB/TrEMBL
  Q86VF0_HUMAN UniProtKB/TrEMBL
  Q8IUL9_HUMAN UniProtKB/TrEMBL
  Q8IZI0_HUMAN UniProtKB/TrEMBL
  Q8IZI1 ENTREZGENE
  Q9BWU5_HUMAN UniProtKB/TrEMBL
  Q9BWV6_HUMAN UniProtKB/TrEMBL
  Q9BX96 ENTREZGENE
  Q9GZL9_HUMAN UniProtKB/TrEMBL
  Q9H1I5_HUMAN UniProtKB/TrEMBL
  Q9H1I6_HUMAN UniProtKB/TrEMBL
  Q9HAR8_HUMAN UniProtKB/TrEMBL
  Q9UBV6_HUMAN UniProtKB/TrEMBL
  Q9UCD6 ENTREZGENE
  Q9UCP8 ENTREZGENE
  Q9UCP9 ENTREZGENE
  Q9UK54_HUMAN UniProtKB/TrEMBL
  Q9UP81_HUMAN UniProtKB/TrEMBL
  Q9Y6D8_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4GX73 UniProtKB/Swiss-Prot
  B2ZUE0 UniProtKB/Swiss-Prot
  P02023 UniProtKB/Swiss-Prot
  Q13852 UniProtKB/Swiss-Prot
  Q14481 UniProtKB/Swiss-Prot
  Q14510 UniProtKB/Swiss-Prot
  Q45KT0 UniProtKB/Swiss-Prot
  Q549N7 UniProtKB/Swiss-Prot
  Q6FI08 UniProtKB/Swiss-Prot
  Q6R7N2 UniProtKB/Swiss-Prot
  Q8IZI1 UniProtKB/Swiss-Prot
  Q9BX96 UniProtKB/Swiss-Prot
  Q9UCD6 UniProtKB/Swiss-Prot
  Q9UCP8 UniProtKB/Swiss-Prot
  Q9UCP9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 HBB  hemoglobin subunit beta  HBB  hemoglobin, beta  Symbol and/or name change 5135510 APPROVED