ITGAM (integrin subunit alpha M) - Rat Genome Database

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Pathways
Gene: ITGAM (integrin subunit alpha M) Homo sapiens
Analyze
Symbol: ITGAM
Name: integrin subunit alpha M
RGD ID: 1343608
HGNC Page HGNC:6149
Description: Enables heat shock protein binding activity. Involved in several processes, including ectodermal cell differentiation; positive regulation of neutrophil degranulation; and positive regulation of superoxide anion generation. Located in cell surface; extracellular space; and plasma membrane raft. Part of integrin alphaM-beta2 complex. Implicated in lupus nephritis; persistent fetal circulation syndrome; and pre-eclampsia. Biomarker of several diseases, including Behcet's disease; artery disease (multiple); atrial fibrillation; diabetic angiopathy; and limb ischemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen CD11b (p170); CD11 antigen-like family member B; CD11B; cell surface glycoprotein MAC-1 subunit alpha; complement component 3 receptor 3 subunit; CR-3 alpha chain; CR3A; integrin alpha-M; integrin, alpha M (complement component 3 receptor 3 subunit); integrin, alpha M (complement component receptor 3, alpha); leukocyte adhesion receptor MO1; MAC-1; MAC1A; macrophage antigen alpha polypeptide; macrophage-1 antigen alpha subunit; MGC117044; MO1A; neutrophil adherence receptor alpha-M subunit; SLEB6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,259,975 - 31,332,877 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,259,967 - 31,332,892 (+)Ensemblhg38GRCh38
GRCh371631,271,296 - 31,344,198 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,178,789 - 31,251,714 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341631,178,811 - 31,251,691NCBI
Celera1628,953,869 - 29,026,766 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,832,071 - 28,904,704 (+)NCBIHuRef
CHM1_11632,589,199 - 32,661,884 (+)NCBICHM1_1
T2T-CHM13v2.01631,647,380 - 31,720,298 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-ropivacaine  (EXP)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (EXP)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-mercaptopropanoic acid  (ISO)
3-methyladenine  (EXP)
3-phenoxybenzoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
agathisflavone  (ISO)
all-trans-4-oxoretinol  (EXP)
all-trans-retinoic acid  (EXP)
alternariol  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
Antimony trioxide  (EXP)
antirheumatic drug  (EXP)
apocynin  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
asperentin  (ISO)
atorvastatin calcium  (EXP)
atrazine  (ISO)
auranofin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bupivacaine  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium telluride  (ISO)
caffeine  (ISO)
Calcimycin  (EXP)
calciol  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
carnosic acid  (EXP,ISO)
chlordecone  (ISO)
chloroprene  (ISO)
chloroquine  (EXP)
chlorpyrifos  (ISO)
cholesterol  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
clonidine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (EXP)
cyclizine  (ISO)
cypermethrin  (EXP)
DAPT  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diallyl disulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
dibenziodolium  (EXP)
dichlorvos  (ISO)
diclofenac  (ISO)
dimemorfan  (EXP)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epalrestat  (ISO)
Erythropoietin  (ISO)
estrone  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylenediaminetetraacetic acid  (EXP)
everolimus  (EXP)
excitatory amino acid agonist  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (ISO)
Fulvic acid  (EXP)
gallic acid  (ISO)
gefitinib  (EXP)
genistein  (ISO)
Ginkgoic acid  (EXP)
ginsenoside Rb1  (ISO)
glutathione  (EXP)
glyburide  (ISO)
GW 4064  (ISO)
halothane  (ISO)
heparin  (EXP)
hexadecanoic acid  (EXP)
high-density lipoprotein  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
ibuprofen  (ISO)
indometacin  (EXP,ISO)
iron atom  (EXP)
iron(0)  (EXP)
isoflurane  (ISO)
isoliquiritigenin  (EXP)
isoprenaline  (EXP)
kaempferol  (EXP)
kainic acid  (ISO)
KT 5720  (EXP)
L-methionine  (ISO)
lactacystin  (EXP)
lead nitrate  (ISO)
leukotriene B4  (EXP)
lidocaine  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (EXP)
lithocholic acid  (EXP)
low-density lipoprotein  (EXP)
LY294002  (EXP,ISO)
maneb  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mannitol  (ISO)
mechlorethamine  (ISO)
memantine  (ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methyllycaconitine  (ISO)
midazolam  (EXP)
minocycline  (ISO)
ML-7  (ISO)
morphine  (ISO)
Morphine-3-glucuronide  (ISO)
mycophenolic acid  (ISO)
mycotoxin  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-(6-acetamidohexyl)acetamide  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
naloxone  (ISO)
neoechinulin A  (ISO)
nickel atom  (EXP)
notoginsenoside R1  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
Oleacein  (EXP)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
paricalcitol  (EXP)
parthenolide  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pinostrobin  (EXP)
pitavastatin  (EXP)
PJ34  (ISO)
plaunotol  (EXP)
pluronic P-123  (ISO)
Poloxamer  (ISO)
poly(I:C)  (ISO)
poly(styrene)  (EXP)
progesterone  (EXP)
pyrithiamine  (ISO)
pyrithione  (EXP)
quartz  (ISO)
quercetin  (EXP)
reparixin  (EXP)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
rolipram  (EXP)
rotenone  (ISO)
rutin  (ISO)
ryanodine  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
serotonin  (ISO)
sevoflurane  (ISO)
SHP099  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sodium stibogluconate  (EXP)
Soman  (ISO)
staurosporine  (EXP)
sterigmatocystin  (ISO)
streptozocin  (ISO)
succimer  (EXP)
sulfasalazine  (EXP)
sulforaphane  (EXP,ISO)
sulfoxaflor  (ISO)
T-2 toxin  (ISO)
tacrine  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
Tanshinone I  (EXP)
tepoxalin  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (EXP)
theophylline  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
TMC-120A  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimethyltin  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin D  (EXP)
xestospongin C  (EXP)
Y-27632  (EXP)
zileuton  (ISO)
zinc atom  (EXP)
zinc protoporphyrin  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)
ziram  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activated T cell proliferation  (ISO)
amyloid-beta clearance  (ISS)
cell adhesion  (IEA,ISO,TAS)
cell-cell adhesion  (IBA,ISO)
cell-cell adhesion via plasma-membrane adhesion molecules  (NAS)
cell-matrix adhesion  (IDA)
cellular extravasation  (ISO)
complement receptor mediated signaling pathway  (ISS)
complement-mediated synapse pruning  (ISS)
ectodermal cell differentiation  (IEP)
forebrain development  (ISS)
heterotypic cell-cell adhesion  (IEA,ISO)
immune system process  (IEA)
innate immune response  (IEA)
integrin-mediated signaling pathway  (IBA,IEA,NAS)
leukocyte adhesion to vascular endothelial cell  (ISO)
leukocyte cell-cell adhesion  (ISO)
leukocyte migration involved in inflammatory response  (ISO)
microglia development  (ISO)
microglial cell activation  (ISS)
negative regulation of dopamine metabolic process  (ISS)
neutrophil apoptotic process  (ISO)
neutrophil chemotaxis  (ISO)
phagocytosis  (ISO)
phagocytosis, engulfment  (ISS)
positive regulation of mast cell differentiation  (ISO)
positive regulation of metabolic process  (IEA)
positive regulation of microglial cell mediated cytotoxicity  (ISS)
positive regulation of neutrophil degranulation  (IGI)
positive regulation of protein targeting to membrane  (ISS)
positive regulation of superoxide anion generation  (IGI,ISS)
receptor-mediated endocytosis  (ISS)
response to amphetamine  (ISO)
response to curcumin  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to Gram-positive bacterium  (IEA,ISO)
response to ischemia  (IEA,ISO)
response to mechanical stimulus  (IEA,ISO)
vertebrate eye-specific patterning  (ISS)

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Crosstalk Between CD11b and Piezo1 Mediates Macrophage Responses to Mechanical Cues. Atcha H, etal., Front Immunol. 2021 Sep 22;12:689397. doi: 10.3389/fimmu.2021.689397. eCollection 2021.
2. Identification of miR-210-5p in human placentae from pregnancies complicated by preeclampsia and intrauterine growth restriction, and its potential role in the pregnancy complications. Awamleh Z and Han VKM, Pregnancy Hypertens. 2020 Jan;19:159-168. doi: 10.1016/j.preghy.2020.01.002. Epub 2020 Jan 14.
3. Integrin-mediated neutrophil adhesion and retinal leukostasis in diabetes. Barouch FC, etal., Invest Ophthalmol Vis Sci. 2000 Apr;41(5):1153-8.
4. Perioperative platelet and monocyte activation in patients with critical limb ischemia. Burdess A, etal., J Vasc Surg. 2010 Sep;52(3):697-703. doi: 10.1016/j.jvs.2010.04.024.
5. Preventing the infiltration of leukocytes by monoclonal antibody blocks the development of progressive ischemia in rat burns. Choi M, etal., Plast Reconstr Surg. 1995 Oct;96(5):1177-85; discussion 1186-7.
6. Antibodies against adhesion molecules reduce apoptosis after transient middle cerebral artery occlusion in rat brain. Chopp M, etal., J Cereb Blood Flow Metab. 1996 Jul;16(4):578-84. doi: 10.1097/00004647-199607000-00007.
7. Postischemic administration of an anti-Mac-1 antibody reduces ischemic cell damage after transient middle cerebral artery occlusion in rats. Chopp M, etal., Stroke. 1994 Apr;25(4):869-75; discussion 875-6. doi: 10.1161/01.str.25.4.869.
8. Antibodies against Mac-1 attenuate neutrophil accumulation after traumatic brain injury in rats. Clark RS, etal., J Neurotrauma. 1996 Jun;13(6):333-41. doi: 10.1089/neu.1996.13.333.
9. Inhibition of human neutrophils NEP activity, CD11b/CD18 expression and elastase release by 3,4-dihydroxyphenylethanol-elenolic acid dialdehyde, oleacein. Czerwińska ME, etal., Food Chem. 2014 Jun 15;153:1-8. doi: 10.1016/j.foodchem.2013.12.019. Epub 2013 Dec 11.
10. Differential Plasma Protein Regulation and Statin Effects in Human Immunodeficiency Virus (HIV)-Infected and Non-HIV-Infected Patients Utilizing a Proteomics Approach. deFilippi C, etal., J Infect Dis. 2020 Aug 17;222(6):929-939. doi: 10.1093/infdis/jiaa196.
11. Validation of the circulating monocyte being representative of the cholesterol-loaded macrophage: biomediator activity. Devaraj S and Jialal I, Arch Pathol Lab Med. 2008 Sep;132(9):1432-5. doi: 10.5858/2008-132-1432-VOTCMB.
12. Global ischemia-induced modifications in the expression of AMPA receptors and inflammation in rat brain. Dos-Anjos S, etal., Brain Res. 2009 Sep 1;1287:20-7. doi: 10.1016/j.brainres.2009.06.065. Epub 2009 Jun 27.
13. Pentameric CRP attenuates inflammatory effects of mmLDL by inhibiting mmLDL--monocyte interactions. Eisenhardt SU, etal., Atherosclerosis. 2012 Oct;224(2):384-93. doi: 10.1016/j.atherosclerosis.2012.07.039. Epub 2012 Aug 10.
14. Palmitate promotes monocyte atherogenicity via de novo ceramide synthesis. Gao D, etal., Free Radic Biol Med. 2012 Aug 15;53(4):796-806. doi: 10.1016/j.freeradbiomed.2012.05.026. Epub 2012 May 26.
15. The effect of midazolam on neutrophil mitogen-activated protein kinase. Ghori K, etal., Eur J Anaesthesiol. 2010 Jun;27(6):562-5. doi: 10.1097/EJA.0b013e3283328442.
16. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
17. The effect of clonidine, an alpha-2 adrenergic receptor agonist, on inflammatory response and postischemic endothelium function during early reperfusion in healthy volunteers. Gourdin M, etal., J Cardiovasc Pharmacol. 2012 Dec;60(6):553-60. doi: 10.1097/FJC.0b013e31827303fa.
18. Mac-1 (CD11b/CD18) links inflammation and thrombosis after glomerular injury. Hirahashi J, etal., Circulation. 2009 Sep 29;120(13):1255-65. Epub 2009 Sep 14.
19. Fasting glucose level modulates cell surface expression of CD11b and CD66b in granulocytes and monocytes of patients with type 2 diabetes. Horvath P, etal., J Investig Med. 2013 Aug;61(6):972-7. doi: 10.2310/JIM.0b013e3182961517.
20. Determinants of platelet conjugate formation with polymorphonuclear leukocytes or monocytes in whole blood. Izzi B, etal., Thromb Haemost. 2007 Dec;98(6):1276-84.
21. Functional inactivation of neutrophils with a Mac-1 (CD11b/CD18) monoclonal antibody protects against ischemia-reperfusion injury in rat liver. Jaeschke H, etal., Hepatology. 1993 May;17(5):915-23.
22. Increased BBB Permeability Enhances Activation of Microglia and Exacerbates Loss of Dendritic Spines After Transient Global Cerebral Ischemia. Ju F, etal., Front Cell Neurosci. 2018 Aug 3;12:236. doi: 10.3389/fncel.2018.00236. eCollection 2018.
23. Mac-1 (CD11b/CD18) and intercellular adhesion molecule-1 in ischemia-reperfusion injury of rat liver. Kobayashi A, etal., Am J Physiol Gastrointest Liver Physiol. 2001 Aug;281(2):G577-85. doi: 10.1152/ajpgi.2001.281.2.G577.
24. Translocator protein localises to CD11b+ macrophages in atherosclerosis. Kopecky C, etal., Atherosclerosis. 2019 May;284:153-159. doi: 10.1016/j.atherosclerosis.2019.03.011. Epub 2019 Mar 18.
25. Persistent behavioral impairments and neuroinflammation following global ischemia in the rat. Langdon KD, etal., Eur J Neurosci. 2008 Dec;28(11):2310-8. doi: 10.1111/j.1460-9568.2008.06513.x. Epub 2008 Nov 3.
26. Store-operated calcium channel inhibition attenuates neutrophil function and postshock acute lung injury. Lee C, etal., J Trauma. 2005 Jul;59(1):56-63; discussion 63. doi: 10.1097/01.ta.0000171456.54921.fe.
27. The pattern of inflammation in rat sepsis due to enterotoxin-producing Staphylococcus aureus: a comparison with ischemia-reperfusion injury. Lin RY, etal., J Med. 1996;27(5-6):303-17.
28. Organ-specific innate immune responses in a mouse model of invasive candidiasis. Lionakis MS, etal., J Innate Immun. 2011;3(2):180-99. doi: 10.1159/000321157. Epub 2010 Nov 9.
29. Lower prevalence of circulating invariant natural killer T (iNKT) cells in patients with acute myocardial infarction undergoing primary coronary stenting. Liu LL, etal., Int Immunopharmacol. 2011 Apr;11(4):480-4. doi: 10.1016/j.intimp.2010.12.019. Epub 2011 Jan 14.
30. Signature of subclinical femoral artery atherosclerosis in peripheral blood mononuclear cells. Llorente-Cortés V, etal., Eur J Clin Invest. 2014 Jun;44(6):539-48. doi: 10.1111/eci.12267.
31. Dysfunction of complement receptors CR3 (CD11b/18) and CR4 (CD11c/18) in pre-eclampsia: a genetic and functional study. Lokki AI, etal., BJOG. 2021 Jul;128(8):1282-1291. doi: 10.1111/1471-0528.16660. Epub 2021 Mar 14.
32. Age, gender and disease-related platelet and neutrophil activation ex vivo in whole blood samples from patients with Behçet's disease. Macey M, etal., Rheumatology (Oxford). 2011 Oct;50(10):1849-59. doi: 10.1093/rheumatology/ker177. Epub 2011 Jun 29.
33. Small molecule-mediated activation of the integrin CD11b/CD18 reduces inflammatory disease. Maiguel D, etal., Sci Signal. 2011 Sep 6;4(189):ra57. doi: 10.1126/scisignal.2001811.
34. A Genetic Model of Constitutively Active Integrin CD11b/CD18. Martinez L, etal., J Immunol. 2020 Nov 1;205(9):2545-2553. doi: 10.4049/jimmunol.1901402. Epub 2020 Sep 16.
35. Down regulation of CD11b and CD18 expression in children with hypercholesterolemia: a preliminary report. Martino F, etal., Nutr Metab Cardiovasc Dis. 2009 Feb;19(2):105-9. doi: 10.1016/j.numecd.2008.05.001. Epub 2008 Aug 3.
36. Neutrophil surface expression of CD11b and CD62L in diabetic microangiopathy. Mastej K and Adamiec R, Acta Diabetol. 2008 Sep;45(3):183-90. doi: 10.1007/s00592-008-0040-0. Epub 2008 May 22.
37. Platelet Serotonin Aggravates Myocardial Ischemia/Reperfusion Injury via Neutrophil Degranulation. Mauler M, etal., Circulation. 2019 Feb 12;139(7):918-931. doi: 10.1161/CIRCULATIONAHA.118.033942.
38. Primed polymorphonuclear leukocytes constitute a possible link between inflammation and oxidative stress in hyperlipidemic patients. Mazor R, etal., Atherosclerosis. 2008 Apr;197(2):937-43. doi: 10.1016/j.atherosclerosis.2007.08.014. Epub 2007 Sep 17.
39. Roles of beta 2 integrins of rat neutrophils in complement- and oxygen radical-mediated acute inflammatory injury. Mulligan MS, etal., J Immunol. 1992 Mar 15;148(6):1847-57.
40. Circulating platelet and neutrophil activation correlates with the clinical course of unstable angina. Murasaki S, etal., Heart Vessels. 2007 Nov;22(6):376-82. doi: 10.1007/s00380-007-0999-4. Epub 2007 Nov 26.
41. High-density lipoprotein reduces the human monocyte inflammatory response. Murphy AJ, etal., Arterioscler Thromb Vasc Biol. 2008 Nov;28(11):2071-7. doi: 10.1161/ATVBAHA.108.168690. Epub 2008 Jul 10.
42. Reconstituted High-Density Lipoprotein Attenuates Cholesterol Crystal-Induced Inflammatory Responses by Reducing Complement Activation. Niyonzima N, etal., J Immunol. 2015 Jul 1;195(1):257-64. doi: 10.4049/jimmunol.1403044. Epub 2015 May 29.
43. Neutrophil and monocyte toll-like receptor 4, CD11b and reactive oxygen intermediates, and neuroimaging outcomes in preterm infants. O'Hare FM, etal., Pediatr Res. 2015 Jul;78(1):82-90. doi: 10.1038/pr.2015.66. Epub 2015 Mar 31.
44. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
45. Monocyte-platelet aggregates and CD11b expression as markers for thrombogenicity in atrial fibrillation. Pfluecke C, etal., Clin Res Cardiol. 2016 Apr;105(4):314-22. doi: 10.1007/s00392-015-0922-4. Epub 2015 Sep 28.
46. Atrial fibrillation is associated with high levels of monocyte-platelet-aggregates and increased CD11b expression in patients with aortic stenosis. Pfluecke C, etal., Thromb Haemost. 2016 May 2;115(5):993-1000. doi: 10.1160/TH15-06-0477. Epub 2016 Jan 14.
47. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
48. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
49. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
50. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
51. Exaggerated neutrophil-mediated reperfusion injury after ischemic stroke in a rodent model of type 2 diabetes. Ritter L, etal., Microcirculation. 2011 Oct;18(7):552-61. doi: 10.1111/j.1549-8719.2011.00115.x.
52. Hemodynamic resuscitation with arginine vasopressin reduces lung injury after brain death in the transplant donor. Rostron AJ, etal., Transplantation. 2008 Feb 27;85(4):597-606. doi: 10.1097/TP.0b013e31816398dd.
53. Solulin reduces infarct volume and regulates gene-expression in transient middle cerebral artery occlusion in rats. Ryang YM, etal., BMC Neurosci. 2011 Nov 14;12:113. doi: 10.1186/1471-2202-12-113.
54. Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Sanchez E, etal., Ann Rheum Dis. 2011 Jun 30.
55. Modulatory effect of 17β-estradiol on myeloid cell infiltration into the male rat brain after ischemic stroke. Scheld M, etal., J Steroid Biochem Mol Biol. 2020 Sep;202:105667. doi: 10.1016/j.jsbmb.2020.105667. Epub 2020 May 11.
56. Toll-like receptor 2 and 4 stimulation elicits an enhanced inflammatory response in human obese patients with atherosclerosis. Scholtes VP, etal., Clin Sci (Lond). 2011 Sep;121(5):205-14. doi: 10.1042/CS20100601.
57. Role of beta 2 integrins and ICAM-1 in lung injury following ischemia-reperfusion of rat hind limbs. Seekamp A, etal., Am J Pathol. 1993 Aug;143(2):464-72.
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62. Reduction of atrial fibrillation burden by pulmonary vein isolation leads to a decrease of CD11b expression on inflammatory cells. Tarnowski D, etal., Europace. 2018 Mar 1;20(3):459-465. doi: 10.1093/europace/euw383.
63. Tamoxifen attenuates inflammatory-mediated damage and improves functional outcome after spinal cord injury in rats. Tian DS, etal., J Neurochem. 2009 Jun;109(6):1658-67. doi: 10.1111/j.1471-4159.2009.06077.x. Epub 2009 Mar 30.
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Additional References at PubMed
PMID:1346576   PMID:1683702   PMID:1967280   PMID:2454931   PMID:2457584   PMID:2563162   PMID:2833753   PMID:3284962   PMID:3539202   PMID:4062888   PMID:7867070   PMID:8419480  
PMID:8458080   PMID:8573344   PMID:8747460   PMID:9142045   PMID:9175709   PMID:9211902   PMID:9488691   PMID:9558116   PMID:9560195   PMID:9569238   PMID:9687375   PMID:9712878  
PMID:9844058   PMID:10352278   PMID:10744708   PMID:10748078   PMID:10846180   PMID:10899906   PMID:10946284   PMID:11073102   PMID:11701612   PMID:11843895   PMID:11881155   PMID:11893077  
PMID:11937770   PMID:11941318   PMID:11953106   PMID:11967116   PMID:12009501   PMID:12036876   PMID:12042322   PMID:12107753   PMID:12145463   PMID:12165526   PMID:12208882   PMID:12234260  
PMID:12244179   PMID:12377763   PMID:12377937   PMID:12390020   PMID:12393547   PMID:12393719   PMID:12444150   PMID:12466503   PMID:12477932   PMID:12485936   PMID:12495676   PMID:12496435  
PMID:12516552   PMID:12576754   PMID:12600815   PMID:12665127   PMID:12682255   PMID:12694184   PMID:12731070   PMID:12760968   PMID:12816955   PMID:12847278   PMID:12960243   PMID:14532278  
PMID:14751053   PMID:14769799   PMID:15004192   PMID:15073035   PMID:15194813   PMID:15217824   PMID:15277376   PMID:15294914   PMID:15304494   PMID:15454120   PMID:15485828   PMID:15489334  
PMID:15585684   PMID:15615722   PMID:15641787   PMID:15718918   PMID:15730520   PMID:15741160   PMID:15778383   PMID:15976367   PMID:16037628   PMID:16239529   PMID:16246332   PMID:16249234  
PMID:16260637   PMID:16357311   PMID:16389569   PMID:16508260   PMID:16614246   PMID:16782049   PMID:16915040   PMID:17172930   PMID:17202372   PMID:17202407   PMID:17228360   PMID:17346796  
PMID:17372166   PMID:17445870   PMID:17721605   PMID:17927697   PMID:17957461   PMID:18029348   PMID:18065787   PMID:18083624   PMID:18096476   PMID:18156711   PMID:18164590   PMID:18204098  
PMID:18204446   PMID:18204448   PMID:18375764   PMID:18414903   PMID:18495781   PMID:18509085   PMID:18541300   PMID:18617697   PMID:18644795   PMID:18678668   PMID:18684982   PMID:18685529  
PMID:18714035   PMID:18762778   PMID:18842294   PMID:18941116   PMID:19052753   PMID:19073595   PMID:19086264   PMID:19110536   PMID:19129174   PMID:19135988   PMID:19165918   PMID:19234460  
PMID:19246218   PMID:19250688   PMID:19286673   PMID:19387459   PMID:19480860   PMID:19546439   PMID:19550115   PMID:19572148   PMID:19578722   PMID:19587009   PMID:19747912   PMID:19748962  
PMID:19800635   PMID:19811837   PMID:19833726   PMID:19863185   PMID:19913121   PMID:19939855   PMID:20185670   PMID:20190138   PMID:20199584   PMID:20228269   PMID:20423844   PMID:20483667  
PMID:20580686   PMID:20628086   PMID:20629846   PMID:20665668   PMID:20666624   PMID:20706761   PMID:20800911   PMID:20824631   PMID:20826754   PMID:20848568   PMID:20881011   PMID:20962850  
PMID:21068098   PMID:21135163   PMID:21151989   PMID:21193407   PMID:21252155   PMID:21263017   PMID:21273385   PMID:21362770   PMID:21403131   PMID:21408207   PMID:21454473   PMID:21551251  
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Genomics

Comparative Map Data
ITGAM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,259,975 - 31,332,877 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,259,967 - 31,332,892 (+)Ensemblhg38GRCh38
GRCh371631,271,296 - 31,344,198 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,178,789 - 31,251,714 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341631,178,811 - 31,251,691NCBI
Celera1628,953,869 - 29,026,766 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,832,071 - 28,904,704 (+)NCBIHuRef
CHM1_11632,589,199 - 32,661,884 (+)NCBICHM1_1
T2T-CHM13v2.01631,647,380 - 31,720,298 (+)NCBIT2T-CHM13v2.0
Itgam
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,661,812 - 127,717,663 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,661,812 - 127,717,663 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm387128,062,640 - 128,118,491 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7128,062,640 - 128,118,491 (+)Ensemblmm10GRCm38
MGSCv377135,206,154 - 135,262,005 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv367127,853,854 - 127,908,772 (+)NCBIMGSCv36mm8
Celera7127,897,978 - 127,954,099 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.93NCBI
Itgam
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81192,089,496 - 192,139,947 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1192,089,542 - 192,139,943 (+)EnsemblGRCr8
mRatBN7.21182,659,047 - 182,709,501 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,659,000 - 182,709,503 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1191,009,691 - 191,059,554 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01198,195,778 - 198,245,649 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01190,866,175 - 190,916,092 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01199,495,312 - 199,545,738 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,495,298 - 199,623,960 (+)Ensemblrn6Rnor6.0
Rnor_5.01206,522,794 - 206,573,619 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41187,334,413 - 187,385,583 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1180,308,890 - 180,355,319 (+)NCBICelera
RGSC_v3.11187,484,293 - 187,535,464 (+)NCBI
Cytogenetic Map1q37NCBI
Itgam
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554938,116,834 - 8,260,759 (+)Ensembl
ChiLan1.0NW_0049554938,116,886 - 8,160,806 (+)NCBIChiLan1.0ChiLan1.0
ITGAM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21834,467,770 - 34,540,427 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11639,269,199 - 39,341,886 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01623,634,476 - 23,707,147 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,630,983 - 31,702,406 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,630,146 - 31,702,406 (+)EnsemblpanPan2panpan1.1
ITGAM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,944,062 - 16,996,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,808,971 - 16,996,286 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha618,516,000 - 18,571,559 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0617,068,771 - 17,127,224 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl617,069,907 - 17,127,159 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1616,871,848 - 16,927,654 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,791,010 - 16,846,822 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0617,102,490 - 17,158,038 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Itgam
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,528,028 - 125,576,877 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365438,461,307 - 8,508,524 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365438,460,526 - 8,508,524 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGAM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,204,610 - 17,268,018 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1317,216,719 - 17,272,134 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,651,478 - 17,668,230 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap3pNCBI
ITGAM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,957,162 - 28,042,697 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl527,957,324 - 28,042,691 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660681,400,356 - 1,493,976 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Itgam
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478214,318,499 - 14,367,922 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462478214,316,505 - 14,367,841 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in ITGAM
835 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001145808.1(ITGAM):c.2164T>C (p.Cys722Arg) single nucleotide variant Malignant melanoma [RCV000071098] Chr16:31324654 [GRCh38]
Chr16:31335975 [GRCh37]
Chr16:31243476 [NCBI36]
Chr16:16p11.2
not provided
NM_000632.4(ITGAM):c.2999C>A (p.Thr1000Asn) single nucleotide variant not provided [RCV000966449]|not specified [RCV000176618] Chr16:31330103 [GRCh38]
Chr16:31341424 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.695G>A (p.Arg232His) single nucleotide variant not provided [RCV001870687] Chr16:31271983 [GRCh38]
Chr16:31283304 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.850G>A (p.Val284Ile) single nucleotide variant not provided [RCV001348877] Chr16:31273510 [GRCh38]
Chr16:31284831 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1
pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207245] Chr16:31154186..31926800 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:31343812-31405543)x3 copy number gain See cases [RCV000445926] Chr16:31343812..31405543 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:31198100-31407832)x3 copy number gain See cases [RCV000512181] Chr16:31198100..31407832 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1141T>C (p.Tyr381His) single nucleotide variant not provided [RCV000513212] Chr16:31276977 [GRCh38]
Chr16:31288298 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2
benign
GRCh37/hg19 16p11.2(chr16:31306417-31331958)x1 copy number loss not provided [RCV000739124] Chr16:31306417..31331958 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.657G>A (p.Thr219=) single nucleotide variant not provided [RCV000917552] Chr16:31271945 [GRCh38]
Chr16:31283266 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2254C>G (p.Leu752Val) single nucleotide variant not specified [RCV004320407] Chr16:31324747 [GRCh38]
Chr16:31336068 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1944C>T (p.Ala648=) single nucleotide variant ITGAM-related disorder [RCV003925881]|not provided [RCV000947699] Chr16:31321569 [GRCh38]
Chr16:31332890 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.1421T>C (p.Leu474Pro) single nucleotide variant not specified [RCV004309057] Chr16:31297578 [GRCh38]
Chr16:31308899 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2430T>C (p.Gly810=) single nucleotide variant ITGAM-related disorder [RCV003905955]|not provided [RCV000968728] Chr16:31325329 [GRCh38]
Chr16:31336650 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.9:g.(?_31338157)_(31343028_?)dup duplication not provided [RCV003105272] Chr16:31338157..31343028 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1081T>G (p.Ser361Ala) single nucleotide variant not provided [RCV003104996] Chr16:31276742 [GRCh38]
Chr16:31288063 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.595C>T (p.His199Tyr) single nucleotide variant not provided [RCV003106914] Chr16:31271883 [GRCh38]
Chr16:31283204 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.192C>T (p.Tyr64=) single nucleotide variant not provided [RCV000911090] Chr16:31265452 [GRCh38]
Chr16:31276773 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2760G>A (p.Pro920=) single nucleotide variant not provided [RCV000957405] Chr16:31328198 [GRCh38]
Chr16:31339519 [GRCh37]
Chr16:16p11.2
benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.238+19G>A single nucleotide variant not provided [RCV001318728] Chr16:31265517 [GRCh38]
Chr16:31276838 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.2853G>T (p.Met951Ile) single nucleotide variant not provided [RCV001871624] Chr16:31329288 [GRCh38]
Chr16:31340609 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.31334604T>C single nucleotide variant not provided [RCV001355373] Chr16:31334604 [GRCh38]
Chr16:31345925 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1459C>A (p.Arg487=) single nucleotide variant not provided [RCV001422464] Chr16:31297616 [GRCh38]
Chr16:31308937 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1804A>T (p.Thr602Ser) single nucleotide variant not provided [RCV001301344]|not specified [RCV004927687] Chr16:31321337 [GRCh38]
Chr16:31332658 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1984C>T (p.Arg662Trp) single nucleotide variant not provided [RCV001306394]|not specified [RCV004927689] Chr16:31321609 [GRCh38]
Chr16:31332930 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.875G>A (p.Arg292His) single nucleotide variant not provided [RCV001346464] Chr16:31275565 [GRCh38]
Chr16:31286886 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.31334579dup duplication not provided [RCV001355816] Chr16:31334578..31334579 [GRCh38]
Chr16:31345899..31345900 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2699A>G (p.Asn900Ser) single nucleotide variant not provided [RCV001314670] Chr16:31326926 [GRCh38]
Chr16:31338247 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.31258314_31258316dup duplication not provided [RCV001355359] Chr16:31258303..31258304 [GRCh38]
Chr16:31269624..31269625 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.934G>A (p.Val312Met) single nucleotide variant not provided [RCV001296353]|not specified [RCV004036030] Chr16:31275624 [GRCh38]
Chr16:31286945 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.31257008_31257021delinsC indel not provided [RCV001356291] Chr16:31257008..31257021 [GRCh38]
Chr16:31268329..31268342 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3005A>G (p.Glu1002Gly) single nucleotide variant not provided [RCV001371958] Chr16:31330109 [GRCh38]
Chr16:31341430 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.31334673_31334675del deletion not provided [RCV001355445] Chr16:31334673..31334675 [GRCh38]
Chr16:31345994..31345996 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1497+16A>C single nucleotide variant not provided [RCV001513358] Chr16:31297670 [GRCh38]
Chr16:31308991 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3387+12T>C single nucleotide variant not provided [RCV001511676] Chr16:31331287 [GRCh38]
Chr16:31342608 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.559-4G>A single nucleotide variant ITGAM-related disorder [RCV003983926]|not provided [RCV001511642] Chr16:31271843 [GRCh38]
Chr16:31283164 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2290-6T>A single nucleotide variant not provided [RCV001462611] Chr16:31324952 [GRCh38]
Chr16:31336273 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2586C>G (p.Thr862=) single nucleotide variant not provided [RCV001488769] Chr16:31325580 [GRCh38]
Chr16:31336901 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.558+11del deletion not provided [RCV001418241] Chr16:31271095 [GRCh38]
Chr16:31282416 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2530C>T (p.Arg844Cys) single nucleotide variant not provided [RCV001489245] Chr16:31325524 [GRCh38]
Chr16:31336845 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2869-17C>T single nucleotide variant not provided [RCV001493351] Chr16:31329781 [GRCh38]
Chr16:31341102 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.444T>C (p.Asp148=) single nucleotide variant not provided [RCV001423707] Chr16:31270970 [GRCh38]
Chr16:31282291 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.953T>A (p.Phe318Tyr) single nucleotide variant ITGAM-related disorder [RCV003956193]|not provided [RCV001519153] Chr16:31275643 [GRCh38]
Chr16:31286964 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.1214-6C>T single nucleotide variant not provided [RCV001481612] Chr16:31277961 [GRCh38]
Chr16:31289282 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1497+15G>T single nucleotide variant not provided [RCV001519451] Chr16:31297669 [GRCh38]
Chr16:31308990 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2499G>A (p.Thr833=) single nucleotide variant ITGAM-related disorder [RCV003980467]|not provided [RCV001510073] Chr16:31325398 [GRCh38]
Chr16:31336719 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2573C>T (p.Ala858Val) single nucleotide variant ITGAM-related disorder [RCV003980490]|not provided [RCV001511644] Chr16:31325567 [GRCh38]
Chr16:31336888 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3436C>T (p.Pro1146Ser) single nucleotide variant ITGAM-related disorder [RCV003983927]|not provided [RCV001511645] Chr16:31331684 [GRCh38]
Chr16:31343005 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.230G>A (p.Arg77His) single nucleotide variant ITGAM-related disorder [RCV003980488]|not provided [RCV001511641] Chr16:31265490 [GRCh38]
Chr16:31265490..31265491 [GRCh38]
Chr16:31276811 [GRCh37]
Chr16:31276811..31276812 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3414G>A (p.Lys1138=) single nucleotide variant not provided [RCV001497444] Chr16:31331662 [GRCh38]
Chr16:31342983 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1322T>C (p.Met441Thr) single nucleotide variant ITGAM-related disorder [RCV003966115]|not provided [RCV001518579] Chr16:31278075 [GRCh38]
Chr16:31289396 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.1243C>T (p.Arg415Trp) single nucleotide variant ITGAM-related disorder [RCV004753348]|not provided [RCV001502314] Chr16:31277996 [GRCh38]
Chr16:31289317 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1801C>T (p.Leu601=) single nucleotide variant not provided [RCV001523070] Chr16:31321334 [GRCh38]
Chr16:31332655 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.1359C>T (p.Ile453=) single nucleotide variant not provided [RCV001481723] Chr16:31297516 [GRCh38]
Chr16:31308837 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.737G>A (p.Arg246Gln) single nucleotide variant not provided [RCV001510909] Chr16:31273397 [GRCh38]
Chr16:31284718 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.704+10C>G single nucleotide variant ITGAM-related disorder [RCV003980489]|not provided [RCV001511643] Chr16:31272002 [GRCh38]
Chr16:31272002..31272003 [GRCh38]
Chr16:31283323 [GRCh37]
Chr16:31283323..31283324 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2597T>C (p.Ile866Thr) single nucleotide variant not provided [RCV001517804] Chr16:31325591 [GRCh38]
Chr16:31336912 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.134+11T>C single nucleotide variant not provided [RCV001522137] Chr16:31261808 [GRCh38]
Chr16:31273129 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2560G>T (p.Glu854Ter) single nucleotide variant not provided [RCV001988432] Chr16:31325554 [GRCh38]
Chr16:31336875 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3409T>C (p.Tyr1137His) single nucleotide variant not provided [RCV002025393] Chr16:31331657 [GRCh38]
Chr16:31342978 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1709G>A (p.Arg570Gln) single nucleotide variant not provided [RCV001896548] Chr16:31321242 [GRCh38]
Chr16:31332563 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1667A>G (p.His556Arg) single nucleotide variant not provided [RCV001891153] Chr16:31297914 [GRCh38]
Chr16:31309235 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.491A>G (p.His164Arg) single nucleotide variant not provided [RCV002008504] Chr16:31271017 [GRCh38]
Chr16:31282338 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1589T>G (p.Val530Gly) single nucleotide variant not provided [RCV002045303] Chr16:31297836 [GRCh38]
Chr16:31309157 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1742A>G (p.Gln581Arg) single nucleotide variant not provided [RCV001915379] Chr16:31321275 [GRCh38]
Chr16:31332596 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.391C>T (p.Arg131Trp) single nucleotide variant not provided [RCV001871440]|not specified [RCV004631788] Chr16:31266111 [GRCh38]
Chr16:31277432 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2846G>A (p.Arg949Gln) single nucleotide variant not provided [RCV001984982] Chr16:31329281 [GRCh38]
Chr16:31340602 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.694C>T (p.Arg232Cys) single nucleotide variant not provided [RCV001896434] Chr16:31271982 [GRCh38]
Chr16:31283303 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2374C>A (p.Leu792Ile) single nucleotide variant not provided [RCV001968862] Chr16:31325273 [GRCh38]
Chr16:31336594 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1460G>A (p.Arg487Gln) single nucleotide variant not provided [RCV001874553] Chr16:31297617 [GRCh38]
Chr16:31308938 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2977-15C>A single nucleotide variant not provided [RCV001873998] Chr16:31330066 [GRCh38]
Chr16:31341387 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.451A>T (p.Ile151Phe) single nucleotide variant not provided [RCV001928689] Chr16:31270977 [GRCh38]
Chr16:31282298 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2944A>G (p.Ile982Val) single nucleotide variant not provided [RCV001895897] Chr16:31329873 [GRCh38]
Chr16:31341194 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1924G>A (p.Val642Met) single nucleotide variant not provided [RCV002008093] Chr16:31321549 [GRCh38]
Chr16:31332870 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3043C>T (p.Arg1015Trp) single nucleotide variant not provided [RCV001988065] Chr16:31330147 [GRCh38]
Chr16:31341468 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3094T>C (p.Cys1032Arg) single nucleotide variant not provided [RCV002003244] Chr16:31330341 [GRCh38]
Chr16:31341662 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3376G>A (p.Ala1126Thr) single nucleotide variant not provided [RCV002008127] Chr16:31331264 [GRCh38]
Chr16:31342585 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.146G>C (p.Gly49Ala) single nucleotide variant not provided [RCV001970478] Chr16:31265406 [GRCh38]
Chr16:31276727 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1301T>G (p.Met434Arg) single nucleotide variant not provided [RCV002039942] Chr16:31278054 [GRCh38]
Chr16:31289375 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2608A>G (p.Ile870Val) single nucleotide variant not provided [RCV001947650]|not specified [RCV004043480] Chr16:31325602 [GRCh38]
Chr16:31336923 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2188G>C (p.Val730Leu) single nucleotide variant not provided [RCV002005484] Chr16:31324681 [GRCh38]
Chr16:31336002 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.925C>T (p.Arg309Cys) single nucleotide variant not provided [RCV001912554] Chr16:31275615 [GRCh38]
Chr16:31286936 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3145G>T (p.Gly1049Cys) single nucleotide variant not provided [RCV002022078] Chr16:31330392 [GRCh38]
Chr16:31341713 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1069G>A (p.Ala357Thr) single nucleotide variant not provided [RCV001907878] Chr16:31276730 [GRCh38]
Chr16:31288051 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2977-19A>G single nucleotide variant not provided [RCV002042106] Chr16:31330062 [GRCh38]
Chr16:31341383 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.919C>A (p.Pro307Thr) single nucleotide variant not provided [RCV001893130] Chr16:31275609 [GRCh38]
Chr16:31286930 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3163T>C (p.Trp1055Arg) single nucleotide variant not provided [RCV002040934] Chr16:31330410 [GRCh38]
Chr16:31341731 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1010-9T>A single nucleotide variant not provided [RCV001910803] Chr16:31276662 [GRCh38]
Chr16:31287983 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.3312C>G (p.Asn1104Lys) single nucleotide variant not provided [RCV001967612]|not specified [RCV005361845] Chr16:31331200 [GRCh38]
Chr16:31342521 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2700T>A (p.Asn900Lys) single nucleotide variant not provided [RCV001947686] Chr16:31326927 [GRCh38]
Chr16:31338248 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2283A>G (p.Thr761=) single nucleotide variant not provided [RCV001895281] Chr16:31324776 [GRCh38]
Chr16:31336097 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.325G>A (p.Val109Met) single nucleotide variant not provided [RCV002023054] Chr16:31266045 [GRCh38]
Chr16:31277366 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.503G>A (p.Arg168Gln) single nucleotide variant not provided [RCV001986991] Chr16:31271029 [GRCh38]
Chr16:31282350 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1910A>G (p.Glu637Gly) single nucleotide variant not provided [RCV002020386]|not specified [RCV005350860] Chr16:31321535 [GRCh38]
Chr16:31332856 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1555C>T (p.Arg519Cys) single nucleotide variant not provided [RCV002020439] Chr16:31297802 [GRCh38]
Chr16:31309123 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2131T>G (p.Cys711Gly) single nucleotide variant not provided [RCV001968205] Chr16:31324527 [GRCh38]
Chr16:31335848 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.557del (p.Leu186fs) deletion not provided [RCV001895075] Chr16:31271082 [GRCh38]
Chr16:31282403 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.14T>C (p.Val5Ala) single nucleotide variant not provided [RCV001983788] Chr16:31260078 [GRCh38]
Chr16:31271399 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1655T>C (p.Val552Ala) single nucleotide variant not provided [RCV002020948] Chr16:31297902 [GRCh38]
Chr16:31309223 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.607A>G (p.Lys203Glu) single nucleotide variant not provided [RCV002044459]|not specified [RCV004038810] Chr16:31271895 [GRCh38]
Chr16:31283216 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1737G>C (p.Arg579Ser) single nucleotide variant ITGAM-related disorder [RCV003401958]|not provided [RCV002004747] Chr16:31321270 [GRCh38]
Chr16:31332591 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.920C>T (p.Pro307Leu) single nucleotide variant not provided [RCV001893751] Chr16:31275610 [GRCh38]
Chr16:31286931 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2977-15_2977-14insCCCTTCTCA insertion not provided [RCV002007762] Chr16:31330066..31330067 [GRCh38]
Chr16:31341387..31341388 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2759C>T (p.Pro920Leu) single nucleotide variant not provided [RCV001982817] Chr16:31328197 [GRCh38]
Chr16:31339518 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2245C>T (p.Arg749Trp) single nucleotide variant not provided [RCV001946458]|not specified [RCV004042965] Chr16:31324738 [GRCh38]
Chr16:31336059 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.182G>A (p.Gly61Asp) single nucleotide variant not provided [RCV001984639] Chr16:31265442 [GRCh38]
Chr16:31276763 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2800G>T (p.Val934Phe) single nucleotide variant not provided [RCV002041145]|not specified [RCV004631932] Chr16:31329235 [GRCh38]
Chr16:31340556 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.671G>A (p.Arg224Gln) single nucleotide variant not provided [RCV001948324] Chr16:31271959 [GRCh38]
Chr16:31283280 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2851A>G (p.Met951Val) single nucleotide variant not provided [RCV001947227] Chr16:31329286 [GRCh38]
Chr16:31340607 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2544G>T (p.Glu848Asp) single nucleotide variant not provided [RCV001948703]|not specified [RCV005370055] Chr16:31325538 [GRCh38]
Chr16:31336859 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.889C>T (p.Arg297Cys) single nucleotide variant not provided [RCV001948652]|not specified [RCV004042001] Chr16:31275579 [GRCh38]
Chr16:31286900 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.452T>C (p.Ile151Thr) single nucleotide variant not provided [RCV002041324] Chr16:31270978 [GRCh38]
Chr16:31282299 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2660C>T (p.Ser887Phe) single nucleotide variant not provided [RCV001889468] Chr16:31326887 [GRCh38]
Chr16:31338208 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.682G>A (p.Ala228Thr) single nucleotide variant not provided [RCV001968519] Chr16:31271970 [GRCh38]
Chr16:31283291 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2513G>A (p.Arg838His) single nucleotide variant not provided [RCV001985863] Chr16:31325507 [GRCh38]
Chr16:31336828 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.874C>T (p.Arg292Cys) single nucleotide variant not provided [RCV001968785] Chr16:31275564 [GRCh38]
Chr16:31286885 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1501G>T (p.Ala501Ser) single nucleotide variant not provided [RCV002006497] Chr16:31297748 [GRCh38]
Chr16:31309069 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3435dup (p.Pro1146fs) duplication not provided [RCV001890012] Chr16:31331682..31331683 [GRCh38]
Chr16:31343003..31343004 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1646G>A (p.Arg549Gln) single nucleotide variant not provided [RCV001908819] Chr16:31297893 [GRCh38]
Chr16:31309214 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.135-1G>A single nucleotide variant not provided [RCV001909980] Chr16:31265394 [GRCh38]
Chr16:31276715 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.739A>G (p.Lys247Glu) single nucleotide variant not provided [RCV001986434] Chr16:31273399 [GRCh38]
Chr16:31284720 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2069T>C (p.Val690Ala) single nucleotide variant not provided [RCV001908949] Chr16:31324465 [GRCh38]
Chr16:31335786 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.142G>A (p.Val48Ile) single nucleotide variant not provided [RCV001947106] Chr16:31265402 [GRCh38]
Chr16:31276723 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1790G>A (p.Gly597Glu) single nucleotide variant not provided [RCV001996786] Chr16:31321323 [GRCh38]
Chr16:31332644 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2848G>A (p.Val950Ile) single nucleotide variant not provided [RCV001979875] Chr16:31329283 [GRCh38]
Chr16:31340604 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.559-10C>G single nucleotide variant not provided [RCV001887194] Chr16:31271837 [GRCh38]
Chr16:31283158 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.1990C>T (p.Arg664Trp) single nucleotide variant not provided [RCV002014310]|not specified [RCV004046697] Chr16:31321615 [GRCh38]
Chr16:31332936 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2289+6T>A single nucleotide variant not provided [RCV001944423] Chr16:31324788 [GRCh38]
Chr16:31336109 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3385A>G (p.Lys1129Glu) single nucleotide variant not provided [RCV002000401] Chr16:31331273 [GRCh38]
Chr16:31342594 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2344A>T (p.Ile782Phe) single nucleotide variant not provided [RCV001999613] Chr16:31325012 [GRCh38]
Chr16:31336333 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.28+5A>C single nucleotide variant not provided [RCV001962578] Chr16:31260097 [GRCh38]
Chr16:31271418 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1945G>A (p.Gly649Arg) single nucleotide variant ITGAM-related disorder [RCV004753406]|not provided [RCV001942429] Chr16:31321570 [GRCh38]
Chr16:31332891 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1267dup (p.Ala423fs) duplication not provided [RCV001898338] Chr16:31278015..31278016 [GRCh38]
Chr16:31289336..31289337 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3230C>A (p.Ser1077Tyr) single nucleotide variant not provided [RCV001883308]|not specified [RCV004040655] Chr16:31330559 [GRCh38]
Chr16:31341880 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.877A>G (p.Ser293Gly) single nucleotide variant not provided [RCV001876778] Chr16:31275567 [GRCh38]
Chr16:31286888 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1607C>T (p.Thr536Met) single nucleotide variant not provided [RCV002027503] Chr16:31297854 [GRCh38]
Chr16:31309175 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2194C>A (p.Arg732Ser) single nucleotide variant not provided [RCV001886945] Chr16:31324687 [GRCh38]
Chr16:31336008 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1238G>A (p.Arg413Gln) single nucleotide variant not provided [RCV001933126] Chr16:31277991 [GRCh38]
Chr16:31289312 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2896C>G (p.Pro966Ala) single nucleotide variant not provided [RCV001902658] Chr16:31329825 [GRCh38]
Chr16:31341146 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.624C>A (p.Asn208Lys) single nucleotide variant not provided [RCV002020118] Chr16:31271912 [GRCh38]
Chr16:31283233 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.777A>T (p.Gly259=) single nucleotide variant not provided [RCV002000616] Chr16:31273437 [GRCh38]
Chr16:31284758 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.122T>A (p.Leu41His) single nucleotide variant not provided [RCV001887890] Chr16:31261785 [GRCh38]
Chr16:31273106 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.294C>A (p.Ser98Arg) single nucleotide variant not provided [RCV001918622]|not specified [RCV004042755] Chr16:31265866 [GRCh38]
Chr16:31277187 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1450G>A (p.Glu484Lys) single nucleotide variant not provided [RCV001979411] Chr16:31297607 [GRCh38]
Chr16:31308928 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3279G>A (p.Thr1093=) single nucleotide variant not provided [RCV002046411] Chr16:31331167 [GRCh38]
Chr16:31342488 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.136G>A (p.Val46Met) single nucleotide variant not provided [RCV001900150]|not specified [RCV004039800] Chr16:31265396 [GRCh38]
Chr16:31276717 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.319C>T (p.Pro107Ser) single nucleotide variant not provided [RCV001878580] Chr16:31266039 [GRCh38]
Chr16:31277360 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1497+1del deletion not provided [RCV001941102] Chr16:31297650 [GRCh38]
Chr16:31308971 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3440_3441delinsTT (p.Pro1147Leu) indel not provided [RCV001926029] Chr16:31331688..31331689 [GRCh38]
Chr16:31343009..31343010 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.112G>A (p.Val38Met) single nucleotide variant not provided [RCV001919001] Chr16:31261775 [GRCh38]
Chr16:31273096 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2868G>A (p.Gln956=) single nucleotide variant not provided [RCV002014282] Chr16:31329303 [GRCh38]
Chr16:31340624 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1871T>C (p.Met624Thr) single nucleotide variant not provided [RCV002051370] Chr16:31321496 [GRCh38]
Chr16:31332817 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3280G>A (p.Glu1094Lys) single nucleotide variant not provided [RCV002047964]|not specified [RCV004046138] Chr16:31331168 [GRCh38]
Chr16:31342489 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.219C>T (p.Cys73=) single nucleotide variant not provided [RCV001955481] Chr16:31265479 [GRCh38]
Chr16:31276800 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.502C>T (p.Arg168Trp) single nucleotide variant not provided [RCV001897926] Chr16:31271028 [GRCh38]
Chr16:31282349 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.931C>T (p.His311Tyr) single nucleotide variant not provided [RCV001916609] Chr16:31275621 [GRCh38]
Chr16:31286942 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.808G>A (p.Asp270Asn) single nucleotide variant not provided [RCV001878736] Chr16:31273468 [GRCh38]
Chr16:31284789 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1159A>G (p.Ser387Gly) single nucleotide variant not provided [RCV001951851] Chr16:31276995 [GRCh38]
Chr16:31288316 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.103G>A (p.Gly35Arg) single nucleotide variant not provided [RCV002031542] Chr16:31261766 [GRCh38]
Chr16:31273087 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.890G>A (p.Arg297His) single nucleotide variant not provided [RCV002050855]|not specified [RCV004038805] Chr16:31275580 [GRCh38]
Chr16:31286901 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2220G>A (p.Thr740=) single nucleotide variant not provided [RCV001975454] Chr16:31324713 [GRCh38]
Chr16:31336034 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.244G>A (p.Val82Met) single nucleotide variant not provided [RCV001954516] Chr16:31265816 [GRCh38]
Chr16:31277137 [GRCh37]
Chr16:16p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000632.4(ITGAM):c.3296C>T (p.Pro1099Leu) single nucleotide variant not provided [RCV001915660]|not specified [RCV004042690] Chr16:31331184 [GRCh38]
Chr16:31342505 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.1115A>G (p.Tyr372Cys) single nucleotide variant not provided [RCV001917083] Chr16:31276951 [GRCh38]
Chr16:31288272 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1009+5G>C single nucleotide variant not provided [RCV002049817] Chr16:31275704 [GRCh38]
Chr16:31287025 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1429A>G (p.Ile477Val) single nucleotide variant not provided [RCV002027477]|not specified [RCV004046894] Chr16:31297586 [GRCh38]
Chr16:31308907 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2935del (p.Gln979fs) deletion not provided [RCV001875272] Chr16:31329863 [GRCh38]
Chr16:31341184 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1414A>G (p.Thr472Ala) single nucleotide variant not provided [RCV001866556] Chr16:31297571 [GRCh38]
Chr16:31308892 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1258G>C (p.Val420Leu) single nucleotide variant not provided [RCV002013712] Chr16:31278011 [GRCh38]
Chr16:31289332 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.725C>A (p.Thr242Asn) single nucleotide variant not provided [RCV001898715] Chr16:31273385 [GRCh38]
Chr16:31284706 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3415G>A (p.Asp1139Asn) single nucleotide variant not provided [RCV001879548] Chr16:31331663 [GRCh38]
Chr16:31342984 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1032C>A (p.Ser344Arg) single nucleotide variant not provided [RCV002016008] Chr16:31276693 [GRCh38]
Chr16:31288014 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1697C>T (p.Ser566Phe) single nucleotide variant not provided [RCV001933632]|not specified [RCV004041792] Chr16:31297944 [GRCh38]
Chr16:31309265 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.394C>T (p.Gln132Ter) single nucleotide variant not provided [RCV001932313] Chr16:31266114 [GRCh38]
Chr16:31277435 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.704+6C>T single nucleotide variant not provided [RCV002029402] Chr16:31271998 [GRCh38]
Chr16:31283319 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.730G>A (p.Gly244Arg) single nucleotide variant not provided [RCV002048067] Chr16:31273390 [GRCh38]
Chr16:31284711 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1637A>G (p.Glu546Gly) single nucleotide variant not provided [RCV002011717] Chr16:31297884 [GRCh38]
Chr16:31309205 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2992T>A (p.Cys998Ser) single nucleotide variant not provided [RCV001919128] Chr16:31330096 [GRCh38]
Chr16:31341417 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2450A>T (p.Gln817Leu) single nucleotide variant not provided [RCV001956631]|not specified [RCV004044491] Chr16:31325349 [GRCh38]
Chr16:31336670 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.244G>C (p.Val82Leu) single nucleotide variant not provided [RCV001940256] Chr16:31265816 [GRCh38]
Chr16:31277137 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2862A>C (p.Gln954His) single nucleotide variant not provided [RCV001900481] Chr16:31329297 [GRCh38]
Chr16:31340618 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1784T>C (p.Met595Thr) single nucleotide variant not provided [RCV001956762] Chr16:31321317 [GRCh38]
Chr16:31332638 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.656C>T (p.Thr219Met) single nucleotide variant not provided [RCV001882373] Chr16:31271944 [GRCh38]
Chr16:31283265 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1477G>A (p.Val493Met) single nucleotide variant not provided [RCV002030995] Chr16:31297634 [GRCh38]
Chr16:31308955 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1298C>G (p.Ala433Gly) single nucleotide variant not provided [RCV001904018] Chr16:31278051 [GRCh38]
Chr16:31289372 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1119C>A (p.Asp373Glu) single nucleotide variant not provided [RCV001915631] Chr16:31276955 [GRCh38]
Chr16:31288276 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.217T>G (p.Cys73Gly) single nucleotide variant not provided [RCV002046024] Chr16:31265477 [GRCh38]
Chr16:31276798 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.540A>T (p.Leu180Phe) single nucleotide variant not provided [RCV001919656] Chr16:31271066 [GRCh38]
Chr16:31282387 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2792+4C>T single nucleotide variant not provided [RCV001934290] Chr16:31328234 [GRCh38]
Chr16:31339555 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2093C>T (p.Thr698Ile) single nucleotide variant not provided [RCV001980320] Chr16:31324489 [GRCh38]
Chr16:31335810 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.596A>C (p.His199Pro) single nucleotide variant not provided [RCV001921969] Chr16:31271884 [GRCh38]
Chr16:31283205 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3073G>T (p.Ala1025Ser) single nucleotide variant not provided [RCV001905529] Chr16:31330320 [GRCh38]
Chr16:31341641 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2874C>G (p.Ser958Arg) single nucleotide variant not provided [RCV001905005] Chr16:31329803 [GRCh38]
Chr16:31341124 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.790G>A (p.Asp264Asn) single nucleotide variant not provided [RCV001866900] Chr16:31273450 [GRCh38]
Chr16:31284771 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.599T>G (p.Phe200Cys) single nucleotide variant not provided [RCV001885572] Chr16:31271887 [GRCh38]
Chr16:31283208 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1381C>T (p.Leu461Phe) single nucleotide variant not provided [RCV001900594] Chr16:31297538 [GRCh38]
Chr16:31308859 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.933C>T (p.His311=) single nucleotide variant not provided [RCV001993282] Chr16:31275623 [GRCh38]
Chr16:31286944 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2519A>G (p.Gln840Arg) single nucleotide variant not provided [RCV001959980] Chr16:31325513 [GRCh38]
Chr16:31336834 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.656C>A (p.Thr219Lys) single nucleotide variant not provided [RCV001884049] Chr16:31271944 [GRCh38]
Chr16:31283265 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3198C>G (p.Ile1066Met) single nucleotide variant not provided [RCV001959782] Chr16:31330527 [GRCh38]
Chr16:31341848 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.989AGA[1] (p.Lys331del) microsatellite not provided [RCV001981423] Chr16:31275679..31275681 [GRCh38]
Chr16:31287000..31287002 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.134+4A>T single nucleotide variant not provided [RCV001998490] Chr16:31261801 [GRCh38]
Chr16:31273122 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1926_1927delinsAA (p.Val643Met) indel not provided [RCV001998877] Chr16:31321551..31321552 [GRCh38]
Chr16:31332872..31332873 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1504C>T (p.Arg502Trp) single nucleotide variant not provided [RCV001999384]|not specified [RCV004045938] Chr16:31297751 [GRCh38]
Chr16:31309072 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1499G>A (p.Arg500Lys) single nucleotide variant not provided [RCV001924504] Chr16:31297746 [GRCh38]
Chr16:31309067 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2976+6C>T single nucleotide variant not provided [RCV001940014] Chr16:31329911 [GRCh38]
Chr16:31341232 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.59A>G (p.Asp20Gly) single nucleotide variant not provided [RCV001880993] Chr16:31261722 [GRCh38]
Chr16:31273043 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV001906885] Chr16:31273405 [GRCh38]
Chr16:31284726 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2759C>A (p.Pro920Gln) single nucleotide variant not provided [RCV002013144] Chr16:31328197 [GRCh38]
Chr16:31339518 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.253G>A (p.Val85Met) single nucleotide variant not provided [RCV001867161]|not specified [RCV004039037] Chr16:31265825 [GRCh38]
Chr16:31277146 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3350T>G (p.Leu1117Arg) single nucleotide variant not provided [RCV001919498] Chr16:31331238 [GRCh38]
Chr16:31342559 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1217A>G (p.Tyr406Cys) single nucleotide variant not provided [RCV001937275] Chr16:31277970 [GRCh38]
Chr16:31289291 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.239-6C>A single nucleotide variant not provided [RCV002028151] Chr16:31265805 [GRCh38]
Chr16:31277126 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.686C>T (p.Thr229Met) single nucleotide variant not provided [RCV001918657] Chr16:31271974 [GRCh38]
Chr16:31283295 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2443A>G (p.Arg815Gly) single nucleotide variant not provided [RCV001936191] Chr16:31325342 [GRCh38]
Chr16:31336663 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2035G>T (p.Ala679Ser) single nucleotide variant not provided [RCV001918673] Chr16:31324431 [GRCh38]
Chr16:31335752 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2047G>A (p.Gly683Ser) single nucleotide variant ITGAM-related disorder [RCV003948860]|not provided [RCV002033503]|not specified [RCV004045223] Chr16:31324443 [GRCh38]
Chr16:31335764 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.628A>G (p.Asn210Asp) single nucleotide variant not provided [RCV001923130] Chr16:31271916 [GRCh38]
Chr16:31283237 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1193A>G (p.Asp398Gly) single nucleotide variant not provided [RCV002026572] Chr16:31277029 [GRCh38]
Chr16:31288350 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2289+1G>C single nucleotide variant not provided [RCV001867470] Chr16:31324783 [GRCh38]
Chr16:31336104 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3190C>A (p.Leu1064Ile) single nucleotide variant not provided [RCV002032104] Chr16:31330519 [GRCh38]
Chr16:31341840 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.229C>T (p.Arg77Cys) single nucleotide variant not provided [RCV001916153]|not specified [RCV004631816] Chr16:31265489 [GRCh38]
Chr16:31276810 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3277-6C>A single nucleotide variant not provided [RCV001996288] Chr16:31331159 [GRCh38]
Chr16:31342480 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.3271T>A (p.Ser1091Thr) single nucleotide variant not provided [RCV001877005]|not specified [RCV004040490] Chr16:31330600 [GRCh38]
Chr16:31341921 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2923G>A (p.Val975Ile) single nucleotide variant not provided [RCV001920769]|not specified [RCV004043439] Chr16:31329852 [GRCh38]
Chr16:31341173 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.499C>T (p.Arg167Trp) single nucleotide variant not provided [RCV001979435] Chr16:31271025 [GRCh38]
Chr16:31282346 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2095C>T (p.Arg699Cys) single nucleotide variant not provided [RCV001952508] Chr16:31324491 [GRCh38]
Chr16:31335812 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1839-12G>C single nucleotide variant not provided [RCV002076380] Chr16:31321452 [GRCh38]
Chr16:31332773 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3277-9C>T single nucleotide variant not provided [RCV002185977] Chr16:31331156 [GRCh38]
Chr16:31342477 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1993C>T (p.Leu665=) single nucleotide variant not provided [RCV002085358] Chr16:31321618 [GRCh38]
Chr16:31332939 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.390A>G (p.Leu130=) single nucleotide variant not provided [RCV002169812] Chr16:31266110 [GRCh38]
Chr16:31277431 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.375G>C (p.Leu125=) single nucleotide variant not provided [RCV002210540] Chr16:31266095 [GRCh38]
Chr16:31277416 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3060+15C>T single nucleotide variant not provided [RCV002191103] Chr16:31330179 [GRCh38]
Chr16:31341500 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2709-8C>T single nucleotide variant not provided [RCV002166991] Chr16:31328139 [GRCh38]
Chr16:31339460 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.309+14G>T single nucleotide variant not provided [RCV002190721] Chr16:31265895 [GRCh38]
Chr16:31277216 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1498-16T>C single nucleotide variant not provided [RCV002088967] Chr16:31297729 [GRCh38]
Chr16:31309050 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2670C>G (p.Ser890=) single nucleotide variant ITGAM-related disorder [RCV003978834]|not provided [RCV002128650] Chr16:31326897 [GRCh38]
Chr16:31338218 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_000632.4(ITGAM):c.1214-17C>T single nucleotide variant not provided [RCV002130496] Chr16:31277950 [GRCh38]
Chr16:31289271 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1989T>C (p.Asp663=) single nucleotide variant not provided [RCV002169176] Chr16:31321614 [GRCh38]
Chr16:31332935 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2166C>T (p.Ile722=) single nucleotide variant not provided [RCV002129038] Chr16:31324659 [GRCh38]
Chr16:31335980 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.559-9C>G single nucleotide variant not provided [RCV002088040] Chr16:31271838 [GRCh38]
Chr16:31283159 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1002G>A (p.Ala334=) single nucleotide variant not provided [RCV002209852] Chr16:31275692 [GRCh38]
Chr16:31287013 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.135-17C>T single nucleotide variant not provided [RCV002086897] Chr16:31265378 [GRCh38]
Chr16:31276699 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2481C>A (p.Ser827=) single nucleotide variant not provided [RCV002187526] Chr16:31325380 [GRCh38]
Chr16:31336701 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_000632.4(ITGAM):c.2793-5T>C single nucleotide variant not provided [RCV002073567] Chr16:31329223 [GRCh38]
Chr16:31340544 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2112C>G (p.Val704=) single nucleotide variant not provided [RCV002185413] Chr16:31324508 [GRCh38]
Chr16:31335829 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3000C>G (p.Thr1000=) single nucleotide variant not provided [RCV002112294] Chr16:31330104 [GRCh38]
Chr16:31341425 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2869-9C>T single nucleotide variant not provided [RCV002085812] Chr16:31329789 [GRCh38]
Chr16:31341110 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3243G>A (p.Leu1081=) single nucleotide variant not provided [RCV002090352] Chr16:31330572 [GRCh38]
Chr16:31341893 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.310-19A>G single nucleotide variant not provided [RCV002207437] Chr16:31266011 [GRCh38]
Chr16:31277332 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.681G>A (p.Thr227=) single nucleotide variant not provided [RCV002128656] Chr16:31271969 [GRCh38]
Chr16:31283290 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3231C>T (p.Ser1077=) single nucleotide variant not provided [RCV002110710] Chr16:31330560 [GRCh38]
Chr16:31341881 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.519C>G (p.Val173=) single nucleotide variant not provided [RCV002187415] Chr16:31271045 [GRCh38]
Chr16:31282366 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.834G>A (p.Glu278=) single nucleotide variant not provided [RCV002127703] Chr16:31273494 [GRCh38]
Chr16:31284815 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1287C>T (p.Ile429=) single nucleotide variant not provided [RCV002189963] Chr16:31278040 [GRCh38]
Chr16:31289361 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1407C>T (p.Asn469=) single nucleotide variant not provided [RCV002190039]|not specified [RCV004927806] Chr16:31297564 [GRCh38]
Chr16:31308885 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.28+7G>A single nucleotide variant not provided [RCV002169206] Chr16:31260099 [GRCh38]
Chr16:31271420 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV002166608] Chr16:31277000 [GRCh38]
Chr16:31288321 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2469G>A (p.Pro823=) single nucleotide variant not provided [RCV002205697] Chr16:31325368 [GRCh38]
Chr16:31336689 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.559-14C>T single nucleotide variant not provided [RCV002146527] Chr16:31271833 [GRCh38]
Chr16:31283154 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.729C>T (p.Asn243=) single nucleotide variant not provided [RCV002071828] Chr16:31273389 [GRCh38]
Chr16:31284710 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1770C>T (p.Gly590=) single nucleotide variant not provided [RCV001907611] Chr16:31321303 [GRCh38]
Chr16:31332624 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.2726G>A (p.Arg909Lys) single nucleotide variant not provided [RCV001967293] Chr16:31328164 [GRCh38]
Chr16:31339485 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2259G>A (p.Ala753=) single nucleotide variant not provided [RCV002169674] Chr16:31324752 [GRCh38]
Chr16:31336073 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2454C>T (p.Val818=) single nucleotide variant not provided [RCV002097286] Chr16:31325353 [GRCh38]
Chr16:31336674 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.252C>T (p.Ala84=) single nucleotide variant not provided [RCV002135109] Chr16:31265824 [GRCh38]
Chr16:31277145 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2709-9T>C single nucleotide variant not provided [RCV002094769] Chr16:31328138 [GRCh38]
Chr16:31339459 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.324C>T (p.Thr108=) single nucleotide variant not provided [RCV002197243] Chr16:31266044 [GRCh38]
Chr16:31277365 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2031C>T (p.Asp677=) single nucleotide variant not provided [RCV002079679] Chr16:31324427 [GRCh38]
Chr16:31335748 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2646G>A (p.Thr882=) single nucleotide variant ITGAM-related disorder [RCV003978531]|not provided [RCV002174965] Chr16:31326873 [GRCh38]
Chr16:31338194 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_000632.4(ITGAM):c.2869-4G>A single nucleotide variant not provided [RCV002149951] Chr16:31329794 [GRCh38]
Chr16:31341115 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.501G>A (p.Arg167=) single nucleotide variant not provided [RCV002215457] Chr16:31271027 [GRCh38]
Chr16:31282348 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2403C>T (p.Asn801=) single nucleotide variant not provided [RCV002186070] Chr16:31325302 [GRCh38]
Chr16:31336623 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2976+7G>A single nucleotide variant not provided [RCV002189842] Chr16:31329912 [GRCh38]
Chr16:31341233 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2003-7C>T single nucleotide variant not provided [RCV002212206] Chr16:31324392 [GRCh38]
Chr16:31335713 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2709-16_2709-15del microsatellite not provided [RCV002170875] Chr16:31328129..31328130 [GRCh38]
Chr16:31339450..31339451 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2349C>G (p.Thr783=) single nucleotide variant not provided [RCV002216193] Chr16:31325017 [GRCh38]
Chr16:31336338 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3249G>T (p.Pro1083=) single nucleotide variant not provided [RCV002195207] Chr16:31330578 [GRCh38]
Chr16:31341899 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.297C>A (p.Pro99=) single nucleotide variant not provided [RCV002096995] Chr16:31265869 [GRCh38]
Chr16:31277190 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2868+16G>A single nucleotide variant not provided [RCV002151293] Chr16:31329319 [GRCh38]
Chr16:31340640 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2363+11T>G single nucleotide variant not provided [RCV002093613] Chr16:31325042 [GRCh38]
Chr16:31336363 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.28+13G>C single nucleotide variant not provided [RCV002192062] Chr16:31260105 [GRCh38]
Chr16:31271426 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.717T>C (p.Phe239=) single nucleotide variant not provided [RCV002134136] Chr16:31273377 [GRCh38]
Chr16:31284698 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.559-5C>T single nucleotide variant not provided [RCV002197313] Chr16:31271842 [GRCh38]
Chr16:31283163 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2850C>T (p.Val950=) single nucleotide variant not provided [RCV002095173] Chr16:31329285 [GRCh38]
Chr16:31340606 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.792T>C (p.Asp264=) single nucleotide variant not provided [RCV002174046] Chr16:31273452 [GRCh38]
Chr16:31284773 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2629-7A>G single nucleotide variant not provided [RCV002152782] Chr16:31326849 [GRCh38]
Chr16:31338170 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3175-20C>A single nucleotide variant not provided [RCV002097194] Chr16:31330484 [GRCh38]
Chr16:31341805 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1357-18C>T single nucleotide variant not provided [RCV002131750] Chr16:31297496 [GRCh38]
Chr16:31308817 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3387+20C>G single nucleotide variant not provided [RCV002115731] Chr16:31331295 [GRCh38]
Chr16:31342616 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.2002+19G>A single nucleotide variant not provided [RCV002172878] Chr16:31321646 [GRCh38]
Chr16:31332967 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1214-11C>A single nucleotide variant not provided [RCV002195428] Chr16:31277956 [GRCh38]
Chr16:31289277 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1608G>A (p.Thr536=) single nucleotide variant not provided [RCV002167358] Chr16:31297855 [GRCh38]
Chr16:31309176 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1470G>A (p.Gln490=) single nucleotide variant not provided [RCV002133162] Chr16:31297627 [GRCh38]
Chr16:31308948 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2977-14G>A single nucleotide variant not provided [RCV002171104] Chr16:31330067 [GRCh38]
Chr16:31341388 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3234G>A (p.Val1078=) single nucleotide variant not provided [RCV002080108] Chr16:31330563 [GRCh38]
Chr16:31341884 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1134C>T (p.Val378=) single nucleotide variant not provided [RCV002091479] Chr16:31276970 [GRCh38]
Chr16:31288291 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1213+13G>A single nucleotide variant not provided [RCV002195581] Chr16:31277062 [GRCh38]
Chr16:31288383 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1422G>T (p.Leu474=) single nucleotide variant not provided [RCV002173709] Chr16:31297579 [GRCh38]
Chr16:31308900 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1213+18G>A single nucleotide variant not provided [RCV002114092] Chr16:31277067 [GRCh38]
Chr16:31288388 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.102C>T (p.Phe34=) single nucleotide variant not provided [RCV002126540] Chr16:31261765 [GRCh38]
Chr16:31273086 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2976+14G>A single nucleotide variant not provided [RCV002130940] Chr16:31329919 [GRCh38]
Chr16:31341240 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1005C>T (p.Ile335=) single nucleotide variant not provided [RCV002094180] Chr16:31275695 [GRCh38]
Chr16:31287016 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3061-14C>G single nucleotide variant not provided [RCV002152421] Chr16:31330294 [GRCh38]
Chr16:31341615 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2976+13C>G single nucleotide variant not provided [RCV002212899] Chr16:31329918 [GRCh38]
Chr16:31341239 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1431C>T (p.Ile477=) single nucleotide variant not provided [RCV002125385] Chr16:31297588 [GRCh38]
Chr16:31308909 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1068C>T (p.Ser356=) single nucleotide variant not provided [RCV002131561] Chr16:31276729 [GRCh38]
Chr16:31288050 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.238+19G>C single nucleotide variant not provided [RCV002195698] Chr16:31265517 [GRCh38]
Chr16:31276838 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1074C>T (p.Ala358=) single nucleotide variant not provided [RCV002205944] Chr16:31276735 [GRCh38]
Chr16:31288056 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2868+10T>C single nucleotide variant ITGAM-related disorder [RCV003958480]|not provided [RCV002097134] Chr16:31329313 [GRCh38]
Chr16:31340634 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3213G>C (p.Glu1071Asp) single nucleotide variant ITGAM-related disorder [RCV003923512]|not provided [RCV002195268] Chr16:31330542 [GRCh38]
Chr16:31341863 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_000632.4(ITGAM):c.238+18C>T single nucleotide variant not provided [RCV002121008] Chr16:31265516 [GRCh38]
Chr16:31276837 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.579T>C (p.Ser193=) single nucleotide variant not provided [RCV002197786] Chr16:31271867 [GRCh38]
Chr16:31283188 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.29-13A>C single nucleotide variant not provided [RCV002159666] Chr16:31261679 [GRCh38]
Chr16:31273000 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1116T>C (p.Tyr372=) single nucleotide variant not provided [RCV002137497] Chr16:31276952 [GRCh38]
Chr16:31288273 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1592A>G (p.Asn531Ser) single nucleotide variant not provided [RCV002102146] Chr16:31297839 [GRCh38]
Chr16:31309160 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3277-20G>A single nucleotide variant not provided [RCV002121849] Chr16:31331145 [GRCh38]
Chr16:31342466 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1839-10G>A single nucleotide variant not provided [RCV002177962] Chr16:31321454 [GRCh38]
Chr16:31332775 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2708+9T>A single nucleotide variant not provided [RCV002217273] Chr16:31326944 [GRCh38]
Chr16:31338265 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3388-18C>A single nucleotide variant not provided [RCV002137928] Chr16:31331618 [GRCh38]
Chr16:31342939 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3061-20T>A single nucleotide variant not provided [RCV002176196] Chr16:31330288 [GRCh38]
Chr16:31341609 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2862A>G (p.Gln954=) single nucleotide variant not provided [RCV002122509] Chr16:31329297 [GRCh38]
Chr16:31340618 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1356+9G>A single nucleotide variant not provided [RCV002120982] Chr16:31278118 [GRCh38]
Chr16:31289439 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2068G>A (p.Val690Ile) single nucleotide variant not provided [RCV002164716] Chr16:31324464 [GRCh38]
Chr16:31335785 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.489A>C (p.Pro163=) single nucleotide variant not provided [RCV002164760] Chr16:31271015 [GRCh38]
Chr16:31282336 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.589C>T (p.Arg197Trp) single nucleotide variant not provided [RCV002139066] Chr16:31271877 [GRCh38]
Chr16:31283198 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.310-4C>A single nucleotide variant not provided [RCV002144401] Chr16:31266026 [GRCh38]
Chr16:31277347 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3387+8C>T single nucleotide variant not provided [RCV002081400] Chr16:31331283 [GRCh38]
Chr16:31342604 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2883G>T (p.Gly961=) single nucleotide variant not provided [RCV002139234] Chr16:31329812 [GRCh38]
Chr16:31341133 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1587C>T (p.Asp529=) single nucleotide variant not provided [RCV002100135] Chr16:31297834 [GRCh38]
Chr16:31309155 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.510G>A (p.Lys170=) single nucleotide variant ITGAM-related disorder [RCV003933687]|not provided [RCV002201860] Chr16:31271036 [GRCh38]
Chr16:31282357 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.789C>T (p.Gly263=) single nucleotide variant not provided [RCV002175626] Chr16:31273449 [GRCh38]
Chr16:31284770 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.111C>T (p.Ser37=) single nucleotide variant not provided [RCV002158494] Chr16:31261774 [GRCh38]
Chr16:31273095 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2709-7C>T single nucleotide variant not provided [RCV002084072] Chr16:31328140 [GRCh38]
Chr16:31339461 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2109G>A (p.Gln703=) single nucleotide variant not provided [RCV002200686] Chr16:31324505 [GRCh38]
Chr16:31335826 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3363C>T (p.Ala1121=) single nucleotide variant not provided [RCV002118577] Chr16:31331251 [GRCh38]
Chr16:31342572 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1263G>T (p.Leu421=) single nucleotide variant ITGAM-related disorder [RCV003968787]|not provided [RCV002204826] Chr16:31278016 [GRCh38]
Chr16:31289337 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.96G>A (p.Arg32=) single nucleotide variant not provided [RCV002159047] Chr16:31261759 [GRCh38]
Chr16:31273080 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.238+15C>T single nucleotide variant not provided [RCV002164430] Chr16:31265513 [GRCh38]
Chr16:31276834 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3277-13C>G single nucleotide variant not provided [RCV002161207] Chr16:31331152 [GRCh38]
Chr16:31342473 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1566A>T (p.Ala522=) single nucleotide variant not provided [RCV002143989] Chr16:31297813 [GRCh38]
Chr16:31309134 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_000632.4(ITGAM):c.351G>A (p.Thr117=) single nucleotide variant not provided [RCV002175268] Chr16:31266071 [GRCh38]
Chr16:31277392 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2424T>C (p.Asn808=) single nucleotide variant not provided [RCV002157650] Chr16:31325323 [GRCh38]
Chr16:31336644 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1707+14A>G single nucleotide variant not provided [RCV002098114] Chr16:31297968 [GRCh38]
Chr16:31309289 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.135-16C>T single nucleotide variant not provided [RCV002182633] Chr16:31265379 [GRCh38]
Chr16:31276700 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3277-6C>T single nucleotide variant not provided [RCV002141625] Chr16:31331159 [GRCh38]
Chr16:31342480 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.28+14_28+15insCAC insertion not provided [RCV002201308] Chr16:31260106..31260107 [GRCh38]
Chr16:31271427..31271428 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2158-14C>T single nucleotide variant not provided [RCV002135496] Chr16:31324637 [GRCh38]
Chr16:31335958 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1356+8C>A single nucleotide variant not provided [RCV002180743] Chr16:31278117 [GRCh38]
Chr16:31289438 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1428C>T (p.Leu476=) single nucleotide variant not provided [RCV002177708] Chr16:31297585 [GRCh38]
Chr16:31308906 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1335C>T (p.Asn445=) single nucleotide variant not provided [RCV002123466] Chr16:31278088 [GRCh38]
Chr16:31289409 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1788T>C (p.Asp596=) single nucleotide variant not provided [RCV002184073] Chr16:31321321 [GRCh38]
Chr16:31332642 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.309+13C>T single nucleotide variant not provided [RCV002217754] Chr16:31265894 [GRCh38]
Chr16:31277215 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.1010-11C>T single nucleotide variant not provided [RCV002184476] Chr16:31276660 [GRCh38]
Chr16:31287981 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3170T>G (p.Ile1057Ser) single nucleotide variant not provided [RCV003116927] Chr16:31330417 [GRCh38]
Chr16:31341738 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1951G>A (p.Val651Ile) single nucleotide variant not provided [RCV003115735]|not specified [RCV004927902] Chr16:31321576 [GRCh38]
Chr16:31332897 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1299G>A (p.Ala433=) single nucleotide variant not provided [RCV003118967] Chr16:31278052 [GRCh38]
Chr16:31289373 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2240A>G (p.Asn747Ser) single nucleotide variant not provided [RCV003119026] Chr16:31324733 [GRCh38]
Chr16:31336054 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31340529)_(31340644_?)del deletion not provided [RCV003105270] Chr16:31340529..31340644 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31332542)_(31332968_?)dup duplication not provided [RCV003105271] Chr16:31332542..31332968 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.428-2A>G single nucleotide variant not provided [RCV002858343] Chr16:31270952 [GRCh38]
Chr16:31282273 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1960T>G (p.Cys654Gly) single nucleotide variant not provided [RCV002727021] Chr16:31321585 [GRCh38]
Chr16:31332906 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2682A>C (p.Lys894Asn) single nucleotide variant not provided [RCV002991693] Chr16:31326909 [GRCh38]
Chr16:31338230 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3241C>G (p.Leu1081Val) single nucleotide variant not provided [RCV002303826] Chr16:31330570 [GRCh38]
Chr16:31341891 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3233T>C (p.Val1078Ala) single nucleotide variant not provided [RCV002305329] Chr16:31330562 [GRCh38]
Chr16:31341883 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2513G>T (p.Arg838Leu) single nucleotide variant not provided [RCV002296791] Chr16:31325507 [GRCh38]
Chr16:31336828 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.632C>A (p.Pro211Gln) single nucleotide variant not provided [RCV002300271] Chr16:31271920 [GRCh38]
Chr16:31283241 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.830G>T (p.Arg277Ile) single nucleotide variant not provided [RCV002302370] Chr16:31273490 [GRCh38]
Chr16:31284811 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1494G>A (p.Arg498=) single nucleotide variant not provided [RCV002771634] Chr16:31297651 [GRCh38]
Chr16:31308972 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3328G>A (p.Val1110Met) single nucleotide variant not provided [RCV002816164] Chr16:31331216 [GRCh38]
Chr16:31342537 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3373G>A (p.Ala1125Thr) single nucleotide variant not specified [RCV004142071] Chr16:31331261 [GRCh38]
Chr16:31342582 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1224C>T (p.Ala408=) single nucleotide variant not provided [RCV002967761] Chr16:31277977 [GRCh38]
Chr16:31289298 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1498-6T>G single nucleotide variant not provided [RCV002903367] Chr16:31297739 [GRCh38]
Chr16:31309060 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3127T>C (p.Phe1043Leu) single nucleotide variant not provided [RCV002751636] Chr16:31330374 [GRCh38]
Chr16:31341695 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3175-17C>T single nucleotide variant not provided [RCV002837504] Chr16:31330487 [GRCh38]
Chr16:31341808 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2628+14G>T single nucleotide variant not provided [RCV003015063] Chr16:31325636 [GRCh38]
Chr16:31336957 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2665G>A (p.Ala889Thr) single nucleotide variant not provided [RCV002685432] Chr16:31326892 [GRCh38]
Chr16:31338213 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2075A>G (p.Asn692Ser) single nucleotide variant not provided [RCV002726682]|not specified [RCV004927851] Chr16:31324471 [GRCh38]
Chr16:31335792 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3277-5C>T single nucleotide variant not provided [RCV002903922] Chr16:31331160 [GRCh38]
Chr16:31342481 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1210T>C (p.Leu404=) single nucleotide variant not provided [RCV002995568] Chr16:31277046 [GRCh38]
Chr16:31288367 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2978A>G (p.Asn993Ser) single nucleotide variant not provided [RCV003016847] Chr16:31330082 [GRCh38]
Chr16:31341403 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.90C>T (p.Asn30=) single nucleotide variant not provided [RCV002755165] Chr16:31261753 [GRCh38]
Chr16:31273074 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.161T>C (p.Ile54Thr) single nucleotide variant not provided [RCV002903433] Chr16:31265421 [GRCh38]
Chr16:31276742 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2125C>T (p.Gln709Ter) single nucleotide variant not provided [RCV002617462] Chr16:31324521 [GRCh38]
Chr16:31335842 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.910G>A (p.Ala304Thr) single nucleotide variant not provided [RCV002614656] Chr16:31275600 [GRCh38]
Chr16:31286921 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2286C>T (p.Ala762=) single nucleotide variant not provided [RCV002996319] Chr16:31324779 [GRCh38]
Chr16:31336100 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1708C>T (p.Arg570Trp) single nucleotide variant not provided [RCV002780135]|not specified [RCV004927854] Chr16:31321241 [GRCh38]
Chr16:31332562 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2429G>A (p.Gly810Asp) single nucleotide variant not provided [RCV003076258]|not specified [RCV005362995] Chr16:31325328 [GRCh38]
Chr16:31336649 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.559-11C>G single nucleotide variant not provided [RCV002685489] Chr16:31271836 [GRCh38]
Chr16:31283157 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2727A>G (p.Arg909=) single nucleotide variant not provided [RCV002881382] Chr16:31328165 [GRCh38]
Chr16:31339486 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2777A>G (p.Tyr926Cys) single nucleotide variant not provided [RCV003033871] Chr16:31328215 [GRCh38]
Chr16:31339536 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2581A>G (p.Ser861Gly) single nucleotide variant not provided [RCV002634392]|not specified [RCV004065781] Chr16:31325575 [GRCh38]
Chr16:31336896 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.891C>G (p.Arg297=) single nucleotide variant not provided [RCV002794936] Chr16:31275581 [GRCh38]
Chr16:31286902 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.298C>A (p.Pro100Thr) single nucleotide variant not provided [RCV003016604]|not specified [RCV004617152] Chr16:31265870 [GRCh38]
Chr16:31277191 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:31187744-31334923)x1 copy number loss not provided [RCV002475669] Chr16:31187744..31334923 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.58G>A (p.Asp20Asn) single nucleotide variant not provided [RCV002841986] Chr16:31261721 [GRCh38]
Chr16:31273042 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1389C>T (p.Ser463=) single nucleotide variant not provided [RCV002685892] Chr16:31297546 [GRCh38]
Chr16:31308867 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.558+10C>T single nucleotide variant not provided [RCV003075218] Chr16:31271094 [GRCh38]
Chr16:31282415 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2194C>T (p.Arg732Cys) single nucleotide variant not provided [RCV002970648] Chr16:31324687 [GRCh38]
Chr16:31336008 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1531G>A (p.Gly511Arg) single nucleotide variant not provided [RCV002994886] Chr16:31297778 [GRCh38]
Chr16:31309099 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2506-16C>A single nucleotide variant not provided [RCV002881214] Chr16:31325484 [GRCh38]
Chr16:31336805 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3274dup (p.Gln1092fs) duplication not provided [RCV003017369] Chr16:31330600..31330601 [GRCh38]
Chr16:31341921..31341922 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1184T>C (p.Val395Ala) single nucleotide variant not provided [RCV003016351] Chr16:31277020 [GRCh38]
Chr16:31288341 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2392C>T (p.Arg798Trp) single nucleotide variant not provided [RCV002618554] Chr16:31325291 [GRCh38]
Chr16:31336612 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3174+1G>A single nucleotide variant not provided [RCV003034909] Chr16:31330422 [GRCh38]
Chr16:31341743 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.558+7G>T single nucleotide variant not provided [RCV002843357] Chr16:31271091 [GRCh38]
Chr16:31282412 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2003-17C>A single nucleotide variant not provided [RCV003034579] Chr16:31324382 [GRCh38]
Chr16:31335703 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.623A>G (p.Asn208Ser) single nucleotide variant not provided [RCV002755387] Chr16:31271911 [GRCh38]
Chr16:31283232 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2241C>A (p.Asn747Lys) single nucleotide variant not provided [RCV002967695]|not specified [RCV005351060] Chr16:31324734 [GRCh38]
Chr16:31336055 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2983T>A (p.Ser995Thr) single nucleotide variant not specified [RCV004129154] Chr16:31330087 [GRCh38]
Chr16:31341408 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2363+17C>T single nucleotide variant not provided [RCV002686042] Chr16:31325048 [GRCh38]
Chr16:31336369 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3405G>T (p.Arg1135=) single nucleotide variant not provided [RCV002736465] Chr16:31331653 [GRCh38]
Chr16:31342974 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.849C>T (p.Tyr283=) single nucleotide variant not provided [RCV002979230] Chr16:31273509 [GRCh38]
Chr16:31284830 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.704+12C>T single nucleotide variant not provided [RCV003039038] Chr16:31272004 [GRCh38]
Chr16:31283325 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.7C>T (p.Leu3Phe) single nucleotide variant not provided [RCV003100340] Chr16:31260071 [GRCh38]
Chr16:31271392 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.364C>T (p.Leu122Phe) single nucleotide variant not provided [RCV003022051]|not specified [RCV004068608] Chr16:31266084 [GRCh38]
Chr16:31277405 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.1767G>C (p.Gly589=) single nucleotide variant not provided [RCV002592985] Chr16:31321300 [GRCh38]
Chr16:31332621 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1645C>T (p.Arg549Trp) single nucleotide variant not provided [RCV002740068] Chr16:31297892 [GRCh38]
Chr16:31309213 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1009+12A>G single nucleotide variant not provided [RCV002639713] Chr16:31275711 [GRCh38]
Chr16:31287032 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.921G>A (p.Pro307=) single nucleotide variant not provided [RCV002639861] Chr16:31275611 [GRCh38]
Chr16:31286932 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2828C>T (p.Ala943Val) single nucleotide variant not provided [RCV002620646]|not specified [RCV004070602] Chr16:31329263 [GRCh38]
Chr16:31340584 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1799A>T (p.Asp600Val) single nucleotide variant not specified [RCV004169920] Chr16:31321332 [GRCh38]
Chr16:31332653 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.802T>A (p.Tyr268Asn) single nucleotide variant not provided [RCV002795532]|not specified [RCV004632076] Chr16:31273462 [GRCh38]
Chr16:31284783 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3387+17C>A single nucleotide variant not provided [RCV002694774] Chr16:31331292 [GRCh38]
Chr16:31342613 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.936G>A (p.Val312=) single nucleotide variant not provided [RCV002706197] Chr16:31275626 [GRCh38]
Chr16:31286947 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2991G>A (p.Thr997=) single nucleotide variant not provided [RCV002979039] Chr16:31330095 [GRCh38]
Chr16:31341416 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2521C>G (p.Arg841Gly) single nucleotide variant not provided [RCV002846562] Chr16:31325515 [GRCh38]
Chr16:31336836 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3241C>T (p.Leu1081=) single nucleotide variant not provided [RCV002910230] Chr16:31330570 [GRCh38]
Chr16:31341891 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.805G>A (p.Glu269Lys) single nucleotide variant not provided [RCV002823833] Chr16:31273465 [GRCh38]
Chr16:31284786 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2700T>C (p.Asn900=) single nucleotide variant not provided [RCV002619346] Chr16:31326927 [GRCh38]
Chr16:31338248 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.894A>T (p.Gln298His) single nucleotide variant not provided [RCV002705834] Chr16:31275584 [GRCh38]
Chr16:31286905 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2258C>T (p.Ala753Val) single nucleotide variant not provided [RCV002912694]|not specified [RCV004066031] Chr16:31324751 [GRCh38]
Chr16:31336072 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1498-17C>G single nucleotide variant not provided [RCV003018656] Chr16:31297728 [GRCh38]
Chr16:31309049 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.2491G>T (p.Val831Leu) single nucleotide variant not provided [RCV003035734] Chr16:31325390 [GRCh38]
Chr16:31336711 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2506-14C>A single nucleotide variant not provided [RCV002848408] Chr16:31325486 [GRCh38]
Chr16:31336807 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.909C>T (p.Ile303=) single nucleotide variant not provided [RCV002800019] Chr16:31275599 [GRCh38]
Chr16:31286920 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1273C>T (p.Arg425Ter) single nucleotide variant not provided [RCV002622755] Chr16:31278026 [GRCh38]
Chr16:31289347 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.928G>A (p.Asp310Asn) single nucleotide variant not provided [RCV002571013] Chr16:31275618 [GRCh38]
Chr16:31286939 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3435del (p.Pro1147fs) deletion not provided [RCV003078486] Chr16:31331683 [GRCh38]
Chr16:31343004 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1161C>T (p.Ser387=) single nucleotide variant not provided [RCV002736628] Chr16:31276997 [GRCh38]
Chr16:31288318 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3175-20C>T single nucleotide variant not provided [RCV002912551] Chr16:31330484 [GRCh38]
Chr16:31341805 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2922C>T (p.Pro974=) single nucleotide variant not provided [RCV002570217] Chr16:31329851 [GRCh38]
Chr16:31341172 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2709-15_2709-14delinsGC indel not provided [RCV002885172] Chr16:31328132..31328133 [GRCh38]
Chr16:31339453..31339454 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2282C>T (p.Thr761Ile) single nucleotide variant not provided [RCV002592786] Chr16:31324775 [GRCh38]
Chr16:31336096 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2559C>T (p.Thr853=) single nucleotide variant not provided [RCV002621940] Chr16:31325553 [GRCh38]
Chr16:31336874 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2976+9A>C single nucleotide variant not provided [RCV002913311] Chr16:31329914 [GRCh38]
Chr16:31341235 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2610C>T (p.Ile870=) single nucleotide variant not provided [RCV002867095] Chr16:31325604 [GRCh38]
Chr16:31336925 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1776C>A (p.Asp592Glu) single nucleotide variant not provided [RCV002846227] Chr16:31321309 [GRCh38]
Chr16:31332630 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2709T>G (p.Ser903Arg) single nucleotide variant not specified [RCV004156690] Chr16:31328147 [GRCh38]
Chr16:31339468 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.69C>T (p.Asn23=) single nucleotide variant not provided [RCV002569946] Chr16:31261732 [GRCh38]
Chr16:31273053 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.851T>A (p.Val284Asp) single nucleotide variant not provided [RCV002662454]|not specified [RCV005370261] Chr16:31273511 [GRCh38]
Chr16:31284832 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2080A>T (p.Thr694Ser) single nucleotide variant ITGAM-related disorder [RCV004753600]|not provided [RCV002923732] Chr16:31324476 [GRCh38]
Chr16:31335797 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2061C>T (p.Ser687=) single nucleotide variant not provided [RCV002637798] Chr16:31324457 [GRCh38]
Chr16:31335778 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.427+7T>C single nucleotide variant not provided [RCV002948329] Chr16:31266154 [GRCh38]
Chr16:31277475 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1497+13G>A single nucleotide variant not provided [RCV003055973] Chr16:31297667 [GRCh38]
Chr16:31308988 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.153C>G (p.Pro51=) single nucleotide variant not provided [RCV002576425] Chr16:31265413 [GRCh38]
Chr16:31276734 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2628+11C>T single nucleotide variant not provided [RCV002790843] Chr16:31325633 [GRCh38]
Chr16:31336954 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.239-4G>A single nucleotide variant not provided [RCV002627342] Chr16:31265807 [GRCh38]
Chr16:31277128 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2319C>T (p.Asp773=) single nucleotide variant not provided [RCV002711310] Chr16:31324987 [GRCh38]
Chr16:31336308 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1249C>T (p.Gln417Ter) single nucleotide variant not provided [RCV002766140] Chr16:31278002 [GRCh38]
Chr16:31289323 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3329T>C (p.Val1110Ala) single nucleotide variant not provided [RCV002894933] Chr16:31331217 [GRCh38]
Chr16:31342538 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.926G>A (p.Arg309His) single nucleotide variant not provided [RCV002576435] Chr16:31275616 [GRCh38]
Chr16:31286937 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2180G>A (p.Ser727Asn) single nucleotide variant not provided [RCV003660999]|not specified [RCV004229209] Chr16:31324673 [GRCh38]
Chr16:31335994 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1017G>C (p.Gln339His) single nucleotide variant not specified [RCV004156066] Chr16:31276678 [GRCh38]
Chr16:31287999 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.670C>T (p.Arg224Trp) single nucleotide variant not provided [RCV002932829]|not specified [RCV004066972] Chr16:31271958 [GRCh38]
Chr16:31283279 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2629-19C>T single nucleotide variant not provided [RCV002597268] Chr16:31326837 [GRCh38]
Chr16:31338158 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1997G>A (p.Arg666Lys) single nucleotide variant not provided [RCV003007219] Chr16:31321622 [GRCh38]
Chr16:31332943 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.979C>A (p.Gln327Lys) single nucleotide variant not provided [RCV002712072] Chr16:31275669 [GRCh38]
Chr16:31286990 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2015G>A (p.Ser672Asn) single nucleotide variant not provided [RCV005099647]|not specified [RCV004108027] Chr16:31324411 [GRCh38]
Chr16:31335732 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1213+14G>C single nucleotide variant not provided [RCV002876355] Chr16:31277063 [GRCh38]
Chr16:31288384 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.62C>T (p.Thr21Ile) single nucleotide variant not provided [RCV002643871] Chr16:31261725 [GRCh38]
Chr16:31273046 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2708+1del deletion not provided [RCV003024804] Chr16:31326935 [GRCh38]
Chr16:31338256 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2538C>G (p.Ala846=) single nucleotide variant not provided [RCV002745615] Chr16:31325532 [GRCh38]
Chr16:31336853 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1334A>G (p.Asn445Ser) single nucleotide variant not specified [RCV004185070] Chr16:31278087 [GRCh38]
Chr16:31289408 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3384C>T (p.Tyr1128=) single nucleotide variant not provided [RCV002710647] Chr16:31331272 [GRCh38]
Chr16:31342593 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1816C>G (p.Gln606Glu) single nucleotide variant not provided [RCV002957574] Chr16:31321349 [GRCh38]
Chr16:31332670 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1505G>A (p.Arg502Gln) single nucleotide variant not provided [RCV002623894] Chr16:31297752 [GRCh38]
Chr16:31309073 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2165T>C (p.Ile722Thr) single nucleotide variant not provided [RCV002663895] Chr16:31324658 [GRCh38]
Chr16:31335979 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2505+8C>T single nucleotide variant not provided [RCV002872472] Chr16:31325412 [GRCh38]
Chr16:31336733 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.149C>G (p.Ala50Gly) single nucleotide variant not provided [RCV002928441] Chr16:31265409 [GRCh38]
Chr16:31276730 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1362C>T (p.Gly454=) single nucleotide variant not provided [RCV002623946] Chr16:31297519 [GRCh38]
Chr16:31308840 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2802C>T (p.Val934=) single nucleotide variant not provided [RCV002594164] Chr16:31329237 [GRCh38]
Chr16:31340558 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.432T>A (p.Cys144Ter) single nucleotide variant not provided [RCV003005825] Chr16:31270958 [GRCh38]
Chr16:31282279 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2826G>A (p.Thr942=) single nucleotide variant not provided [RCV003024942] Chr16:31329261 [GRCh38]
Chr16:31340582 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2167G>A (p.Glu723Lys) single nucleotide variant not provided [RCV002982296] Chr16:31324660 [GRCh38]
Chr16:31335981 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2766A>G (p.Lys922=) single nucleotide variant not provided [RCV002625998] Chr16:31328204 [GRCh38]
Chr16:31339525 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.320C>T (p.Pro107Leu) single nucleotide variant not provided [RCV002851085] Chr16:31266040 [GRCh38]
Chr16:31277361 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.558+19G>A single nucleotide variant not provided [RCV002917340] Chr16:31271103 [GRCh38]
Chr16:31282424 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1448A>G (p.Tyr483Cys) single nucleotide variant not provided [RCV002853384] Chr16:31297605 [GRCh38]
Chr16:31308926 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3061-16C>T single nucleotide variant not provided [RCV002573717] Chr16:31330292 [GRCh38]
Chr16:31341613 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1495G>T (p.Gly499Trp) single nucleotide variant not provided [RCV002623331] Chr16:31297652 [GRCh38]
Chr16:31308973 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1721C>T (p.Ser574Phe) single nucleotide variant not provided [RCV002766664] Chr16:31321254 [GRCh38]
Chr16:31332575 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2289+13T>C single nucleotide variant not provided [RCV002663256] Chr16:31324795 [GRCh38]
Chr16:31336116 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1985G>A (p.Arg662Gln) single nucleotide variant not provided [RCV002643815] Chr16:31321610 [GRCh38]
Chr16:31332931 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.704+13T>G single nucleotide variant not provided [RCV002894202] Chr16:31272005 [GRCh38]
Chr16:31283326 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1432G>A (p.Gly478Arg) single nucleotide variant not provided [RCV003006171] Chr16:31297589 [GRCh38]
Chr16:31308910 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1821G>A (p.Gly607=) single nucleotide variant not provided [RCV002575765] Chr16:31321354 [GRCh38]
Chr16:31332675 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1298C>T (p.Ala433Val) single nucleotide variant not provided [RCV002790323] Chr16:31278051 [GRCh38]
Chr16:31289372 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1611C>T (p.Asp537=) single nucleotide variant not provided [RCV002932993] Chr16:31297858 [GRCh38]
Chr16:31309179 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3401A>G (p.Lys1134Arg) single nucleotide variant not provided [RCV003082703] Chr16:31331649 [GRCh38]
Chr16:31342970 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.8T>G (p.Leu3Arg) single nucleotide variant not provided [RCV002932553] Chr16:31260072 [GRCh38]
Chr16:31271393 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3080G>T (p.Cys1027Phe) single nucleotide variant not provided [RCV002829288] Chr16:31330327 [GRCh38]
Chr16:31341648 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.134+19G>A single nucleotide variant not provided [RCV003042834] Chr16:31261816 [GRCh38]
Chr16:31273137 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3145G>A (p.Gly1049Ser) single nucleotide variant not provided [RCV005099217]|not specified [RCV004242637] Chr16:31330392 [GRCh38]
Chr16:31341713 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1135T>G (p.Phe379Val) single nucleotide variant not provided [RCV002932083] Chr16:31276971 [GRCh38]
Chr16:31288292 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1894G>T (p.Ala632Ser) single nucleotide variant not provided [RCV002918303] Chr16:31321519 [GRCh38]
Chr16:31332840 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1070C>T (p.Ala357Val) single nucleotide variant not specified [RCV004095914] Chr16:31276731 [GRCh38]
Chr16:31288052 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3276+16G>A single nucleotide variant not provided [RCV002741029] Chr16:31330621 [GRCh38]
Chr16:31341942 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1449C>T (p.Tyr483=) single nucleotide variant not provided [RCV002957462] Chr16:31297606 [GRCh38]
Chr16:31308927 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1548C>T (p.Pro516=) single nucleotide variant not provided [RCV002721179] Chr16:31297795 [GRCh38]
Chr16:31309116 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2869-17del deletion not provided [RCV003026464] Chr16:31329778 [GRCh38]
Chr16:31341099 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.588C>T (p.Phe196=) single nucleotide variant not provided [RCV002631751] Chr16:31271876 [GRCh38]
Chr16:31283197 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1674C>T (p.Thr558=) single nucleotide variant ITGAM-related disorder [RCV003963331]|not provided [RCV002715516] Chr16:31297921 [GRCh38]
Chr16:31309242 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2235C>T (p.Phe745=) single nucleotide variant not provided [RCV002582165] Chr16:31324728 [GRCh38]
Chr16:31336049 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.205A>T (p.Ser69Cys) single nucleotide variant not provided [RCV003065944] Chr16:31265465 [GRCh38]
Chr16:31276786 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2404G>C (p.Val802Leu) single nucleotide variant not provided [RCV002579199] Chr16:31325303 [GRCh38]
Chr16:31336624 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3401A>T (p.Lys1134Met) single nucleotide variant not provided [RCV002721045] Chr16:31331649 [GRCh38]
Chr16:31342970 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1606A>G (p.Thr536Ala) single nucleotide variant not provided [RCV002676601] Chr16:31297853 [GRCh38]
Chr16:31309174 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3084G>T (p.Gln1028His) single nucleotide variant not provided [RCV002676607] Chr16:31330331 [GRCh38]
Chr16:31341652 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3023C>T (p.Ser1008Phe) single nucleotide variant not specified [RCV004076276] Chr16:31330127 [GRCh38]
Chr16:31341448 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.294C>T (p.Ser98=) single nucleotide variant ITGAM-related disorder [RCV003906532]|not provided [RCV002632214] Chr16:31265866 [GRCh38]
Chr16:31277187 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2363+9C>T single nucleotide variant not provided [RCV002580398] Chr16:31325040 [GRCh38]
Chr16:31336361 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1776C>T (p.Asp592=) single nucleotide variant not provided [RCV002600670] Chr16:31321309 [GRCh38]
Chr16:31332630 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1459C>T (p.Arg487Ter) single nucleotide variant not provided [RCV002959250] Chr16:31297616 [GRCh38]
Chr16:31308937 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.429G>T (p.Gly143=) single nucleotide variant not provided [RCV002646412] Chr16:31270955 [GRCh38]
Chr16:31282276 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1441C>T (p.His481Tyr) single nucleotide variant not provided [RCV002630627] Chr16:31297598 [GRCh38]
Chr16:31308919 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.930T>C (p.Asp310=) single nucleotide variant not provided [RCV002672088] Chr16:31275620 [GRCh38]
Chr16:31286941 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.204C>T (p.Tyr68=) single nucleotide variant not provided [RCV002577797] Chr16:31265464 [GRCh38]
Chr16:31276785 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2589C>G (p.Ser863Arg) single nucleotide variant not provided [RCV002922567] Chr16:31325583 [GRCh38]
Chr16:31336904 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2105C>T (p.Thr702Ile) single nucleotide variant not provided [RCV002577863]|not specified [RCV004927823] Chr16:31324501 [GRCh38]
Chr16:31335822 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2868+16G>C single nucleotide variant not provided [RCV003027123] Chr16:31329319 [GRCh38]
Chr16:31340640 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.721A>C (p.Ile241Leu) single nucleotide variant not provided [RCV003575004]|not specified [RCV004165264] Chr16:31273381 [GRCh38]
Chr16:31284702 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1241A>G (p.Asn414Ser) single nucleotide variant not provided [RCV002675726] Chr16:31277994 [GRCh38]
Chr16:31289315 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2330A>G (p.Gln777Arg) single nucleotide variant not provided [RCV002670704] Chr16:31324998 [GRCh38]
Chr16:31336319 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2868+5G>A single nucleotide variant not provided [RCV003062933] Chr16:31329308 [GRCh38]
Chr16:31340629 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3174+12C>T single nucleotide variant not provided [RCV002631768] Chr16:31330433 [GRCh38]
Chr16:31341754 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3102C>T (p.Ile1034=) single nucleotide variant not provided [RCV002835117] Chr16:31330349 [GRCh38]
Chr16:31341670 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1915A>T (p.Asn639Tyr) single nucleotide variant not provided [RCV003064080] Chr16:31321540 [GRCh38]
Chr16:31332861 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2290-5A>T single nucleotide variant not provided [RCV002630365] Chr16:31324953 [GRCh38]
Chr16:31336274 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2353A>C (p.Ser785Arg) single nucleotide variant not provided [RCV002810843] Chr16:31325021 [GRCh38]
Chr16:31336342 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1708-9T>C single nucleotide variant not provided [RCV003029947] Chr16:31321232 [GRCh38]
Chr16:31332553 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2615C>G (p.Pro872Arg) single nucleotide variant not provided [RCV002715008]|not specified [RCV004927846] Chr16:31325609 [GRCh38]
Chr16:31336930 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.238+20G>A single nucleotide variant not provided [RCV002937471] Chr16:31265518 [GRCh38]
Chr16:31276839 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.859-18_859-17insTGGTAAATCATCTCACAC insertion not provided [RCV002899088] Chr16:31275531..31275532 [GRCh38]
Chr16:31286852..31286853 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2096G>A (p.Arg699His) single nucleotide variant not provided [RCV003777678]|not specified [RCV004092241] Chr16:31324492 [GRCh38]
Chr16:31335813 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2224T>C (p.Leu742=) single nucleotide variant not provided [RCV002581423] Chr16:31324717 [GRCh38]
Chr16:31336038 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3387+19_3387+20dup duplication not provided [RCV002601350] Chr16:31331290..31331291 [GRCh38]
Chr16:31342611..31342612 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2821T>G (p.Phe941Val) single nucleotide variant not provided [RCV003064333] Chr16:31329256 [GRCh38]
Chr16:31340577 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1214-9C>T single nucleotide variant not provided [RCV002578080] Chr16:31277958 [GRCh38]
Chr16:31289279 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3305T>A (p.Val1102Asp) single nucleotide variant not provided [RCV003030054] Chr16:31331193 [GRCh38]
Chr16:31342514 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3008G>A (p.Arg1003His) single nucleotide variant not provided [RCV002602075]|not specified [RCV004065709] Chr16:31330112 [GRCh38]
Chr16:31341433 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1880A>G (p.Asn627Ser) single nucleotide variant not provided [RCV002934049] Chr16:31321505 [GRCh38]
Chr16:31332826 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1214-12C>A single nucleotide variant not provided [RCV002716448] Chr16:31277955 [GRCh38]
Chr16:31289276 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.700G>C (p.Val234Leu) single nucleotide variant not provided [RCV002942950] Chr16:31271988 [GRCh38]
Chr16:31283309 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.150C>T (p.Ala50=) single nucleotide variant not provided [RCV002943495] Chr16:31265410 [GRCh38]
Chr16:31276731 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.342T>A (p.Ser114Arg) single nucleotide variant not provided [RCV003069895] Chr16:31266062 [GRCh38]
Chr16:31277383 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.704+9_704+10delinsTG indel not provided [RCV002604642] Chr16:31272001..31272002 [GRCh38]
Chr16:31283322..31283323 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3249G>A (p.Pro1083=) single nucleotide variant not provided [RCV002653587] Chr16:31330578 [GRCh38]
Chr16:31341899 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.427+10C>T single nucleotide variant not provided [RCV002604727] Chr16:31266157 [GRCh38]
Chr16:31277478 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1009+20T>C single nucleotide variant not provided [RCV002657858] Chr16:31275719 [GRCh38]
Chr16:31287040 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2534T>C (p.Leu845Pro) single nucleotide variant not provided [RCV002944201] Chr16:31325528 [GRCh38]
Chr16:31336849 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3387+9C>T single nucleotide variant not provided [RCV002652988] Chr16:31331284 [GRCh38]
Chr16:31342605 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2393G>A (p.Arg798Gln) single nucleotide variant not provided [RCV002604372] Chr16:31325292 [GRCh38]
Chr16:31336613 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1356+16G>C single nucleotide variant not provided [RCV002587744] Chr16:31278125 [GRCh38]
Chr16:31289446 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3105G>A (p.Pro1035=) single nucleotide variant not provided [RCV002585951] Chr16:31330352 [GRCh38]
Chr16:31341673 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3175-9C>T single nucleotide variant not provided [RCV002586842] Chr16:31330495 [GRCh38]
Chr16:31341816 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2725A>G (p.Arg909Gly) single nucleotide variant not provided [RCV002609746] Chr16:31328163 [GRCh38]
Chr16:31339484 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2084_2087del (p.Lys695fs) deletion not provided [RCV002606743] Chr16:31324478..31324481 [GRCh38]
Chr16:31335799..31335802 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2046C>T (p.Ser682=) single nucleotide variant not provided [RCV003069457] Chr16:31324442 [GRCh38]
Chr16:31335763 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1619T>C (p.Ile540Thr) single nucleotide variant not provided [RCV002587963] Chr16:31297866 [GRCh38]
Chr16:31309187 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3425G>A (p.Ser1142Asn) single nucleotide variant not provided [RCV002583935] Chr16:31331673 [GRCh38]
Chr16:31342994 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1084-11A>G single nucleotide variant not provided [RCV002583960] Chr16:31276909 [GRCh38]
Chr16:31288230 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2807C>G (p.Thr936Ser) single nucleotide variant not provided [RCV002585568] Chr16:31329242 [GRCh38]
Chr16:31340563 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2586C>T (p.Thr862=) single nucleotide variant not provided [RCV002944065] Chr16:31325580 [GRCh38]
Chr16:31336901 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1357-10T>A single nucleotide variant not provided [RCV002654068] Chr16:31297504 [GRCh38]
Chr16:31308825 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.651A>G (p.Pro217=) single nucleotide variant not provided [RCV002604392] Chr16:31271939 [GRCh38]
Chr16:31283260 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1407C>A (p.Asn469Lys) single nucleotide variant not provided [RCV002586753] Chr16:31297564 [GRCh38]
Chr16:31308885 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2954G>A (p.Arg985His) single nucleotide variant not provided [RCV002634969] Chr16:31329883 [GRCh38]
Chr16:31341204 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.558+16T>A single nucleotide variant not provided [RCV002609480] Chr16:31271100 [GRCh38]
Chr16:31282421 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.3208G>A (p.Ala1070Thr) single nucleotide variant not provided [RCV002944095] Chr16:31330537 [GRCh38]
Chr16:31341858 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.238+16G>A single nucleotide variant not provided [RCV002583187] Chr16:31265514 [GRCh38]
Chr16:31276835 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1707+13C>T single nucleotide variant not provided [RCV002725608] Chr16:31297967 [GRCh38]
Chr16:31309288 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.878G>T (p.Ser293Ile) single nucleotide variant not provided [RCV002605501] Chr16:31275568 [GRCh38]
Chr16:31286889 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2364-17TCT[2] microsatellite not provided [RCV002586294] Chr16:31325246..31325248 [GRCh38]
Chr16:31336567..31336569 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2107C>G (p.Gln703Glu) single nucleotide variant not provided [RCV002582347] Chr16:31324503 [GRCh38]
Chr16:31335824 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3434G>T (p.Gly1145Val) single nucleotide variant not specified [RCV004281135] Chr16:31331682 [GRCh38]
Chr16:31343003 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.680C>T (p.Thr227Met) single nucleotide variant not specified [RCV004276491] Chr16:31271968 [GRCh38]
Chr16:31283289 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3068C>T (p.Ser1023Phe) single nucleotide variant not specified [RCV004359442] Chr16:31330315 [GRCh38]
Chr16:31341636 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3334A>G (p.Ser1112Gly) single nucleotide variant not provided [RCV003569911] Chr16:31331222 [GRCh38]
Chr16:31342543 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2561A>T (p.Glu854Val) single nucleotide variant not provided [RCV003569635] Chr16:31325555 [GRCh38]
Chr16:31336876 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2167G>C (p.Glu723Gln) single nucleotide variant not provided [RCV003543730] Chr16:31324660 [GRCh38]
Chr16:31335981 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.428-3C>T single nucleotide variant not provided [RCV003874391] Chr16:31270951 [GRCh38]
Chr16:31282272 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2164A>G (p.Ile722Val) single nucleotide variant not provided [RCV003686218] Chr16:31324657 [GRCh38]
Chr16:31335978 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2364-6C>T single nucleotide variant not provided [RCV003570497] Chr16:31325257 [GRCh38]
Chr16:31336578 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2793-11dup duplication not provided [RCV003872983] Chr16:31329211..31329212 [GRCh38]
Chr16:31340532..31340533 [GRCh37]
Chr16:16p11.2
benign
NM_000632.4(ITGAM):c.3276+8T>C single nucleotide variant not provided [RCV003880784] Chr16:31330613 [GRCh38]
Chr16:31341934 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3240C>T (p.Thr1080=) single nucleotide variant not provided [RCV003691282] Chr16:31330569 [GRCh38]
Chr16:31341890 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2248C>G (p.Pro750Ala) single nucleotide variant ITGAM-related disorder [RCV003394396] Chr16:31324741 [GRCh38]
Chr16:31336062 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.704+5G>A single nucleotide variant ITGAM-related disorder [RCV003402098] Chr16:31271997 [GRCh38]
Chr16:31283318 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2414C>G (p.Thr805Ser) single nucleotide variant not provided [RCV003576873] Chr16:31325313 [GRCh38]
Chr16:31336634 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3315C>A (p.Pro1105=) single nucleotide variant not provided [RCV003573858] Chr16:31331203 [GRCh38]
Chr16:31342524 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2629-4C>T single nucleotide variant not provided [RCV003829487] Chr16:31326852 [GRCh38]
Chr16:31338173 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.253G>T (p.Val85Leu) single nucleotide variant not provided [RCV003662899] Chr16:31265825 [GRCh38]
Chr16:31277146 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1838+2T>A single nucleotide variant not provided [RCV003829334] Chr16:31321373 [GRCh38]
Chr16:31332694 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1497G>A (p.Gly499=) single nucleotide variant not provided [RCV003690142] Chr16:31297654 [GRCh38]
Chr16:31308975 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2434G>A (p.Asp812Asn) single nucleotide variant not provided [RCV003830677] Chr16:31325333 [GRCh38]
Chr16:31336654 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2009T>A (p.Ile670Asn) single nucleotide variant not provided [RCV003827359] Chr16:31324405 [GRCh38]
Chr16:31335726 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1399G>A (p.Asp467Asn) single nucleotide variant not provided [RCV003579286] Chr16:31297556 [GRCh38]
Chr16:31308877 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2337C>A (p.Asp779Glu) single nucleotide variant not provided [RCV003824991] Chr16:31325005 [GRCh38]
Chr16:31336326 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.906C>T (p.Thr302=) single nucleotide variant not provided [RCV003576947] Chr16:31275596 [GRCh38]
Chr16:31286917 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2629-10C>T single nucleotide variant not provided [RCV003738928] Chr16:31326846 [GRCh38]
Chr16:31338167 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.859-14T>G single nucleotide variant not provided [RCV003579107] Chr16:31275535 [GRCh38]
Chr16:31286856 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.513G>A (p.Glu171=) single nucleotide variant not provided [RCV003692465] Chr16:31271039 [GRCh38]
Chr16:31282360 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2755C>G (p.Leu919Val) single nucleotide variant not provided [RCV003829197] Chr16:31328193 [GRCh38]
Chr16:31339514 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.29-6C>T single nucleotide variant not provided [RCV003715198] Chr16:31261686 [GRCh38]
Chr16:31273007 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2605C>T (p.Pro869Ser) single nucleotide variant not provided [RCV003880271] Chr16:31325599 [GRCh38]
Chr16:31336920 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1498-11G>T single nucleotide variant not provided [RCV003695545] Chr16:31297734 [GRCh38]
Chr16:31309055 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1839-6C>T single nucleotide variant not provided [RCV003826934] Chr16:31321458 [GRCh38]
Chr16:31332779 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.559-11C>A single nucleotide variant not provided [RCV003573349] Chr16:31271836 [GRCh38]
Chr16:31283157 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.756C>T (p.Ile252=) single nucleotide variant not provided [RCV003826310] Chr16:31273416 [GRCh38]
Chr16:31284737 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2444G>A (p.Arg815Lys) single nucleotide variant not provided [RCV003714155] Chr16:31325343 [GRCh38]
Chr16:31336664 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2779A>G (p.Met927Val) single nucleotide variant not provided [RCV003661765]|not specified [RCV004371517] Chr16:31328217 [GRCh38]
Chr16:31339538 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1086T>C (p.Asn362=) single nucleotide variant not provided [RCV003695372] Chr16:31276922 [GRCh38]
Chr16:31288243 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1083+11C>T single nucleotide variant not provided [RCV003659870] Chr16:31276755 [GRCh38]
Chr16:31288076 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.310-4C>T single nucleotide variant not provided [RCV003695453] Chr16:31266026 [GRCh38]
Chr16:31277347 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2174C>T (p.Pro725Leu) single nucleotide variant not provided [RCV003571961] Chr16:31324667 [GRCh38]
Chr16:31335988 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.805G>T (p.Glu269Ter) single nucleotide variant not provided [RCV003575547] Chr16:31273465 [GRCh38]
Chr16:31284786 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2691C>T (p.Leu897=) single nucleotide variant not provided [RCV003830601] Chr16:31326918 [GRCh38]
Chr16:31338239 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1955G>T (p.Arg652Ile) single nucleotide variant not provided [RCV003694853] Chr16:31321580 [GRCh38]
Chr16:31332901 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.860T>A (p.Val287Glu) single nucleotide variant not provided [RCV003695935] Chr16:31275550 [GRCh38]
Chr16:31286871 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1083+6T>G single nucleotide variant not provided [RCV003696098] Chr16:31276750 [GRCh38]
Chr16:31288071 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.803A>T (p.Tyr268Phe) single nucleotide variant not provided [RCV003574328] Chr16:31273463 [GRCh38]
Chr16:31284784 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1168A>G (p.Ile390Val) single nucleotide variant not provided [RCV003716273] Chr16:31277004 [GRCh38]
Chr16:31288325 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2032C>G (p.Leu678Val) single nucleotide variant not provided [RCV003687440]|not specified [RCV004371795] Chr16:31324428 [GRCh38]
Chr16:31335749 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3054C>G (p.Pro1018=) single nucleotide variant not provided [RCV003576881] Chr16:31330158 [GRCh38]
Chr16:31341479 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.395A>G (p.Gln132Arg) single nucleotide variant not provided [RCV003824768] Chr16:31266115 [GRCh38]
Chr16:31277436 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1418A>G (p.Asp473Gly) single nucleotide variant not provided [RCV003825944] Chr16:31297575 [GRCh38]
Chr16:31308896 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.338G>A (p.Cys113Tyr) single nucleotide variant not provided [RCV003713083] Chr16:31266058 [GRCh38]
Chr16:31277379 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3282G>A (p.Glu1094=) single nucleotide variant not provided [RCV003689116] Chr16:31331170 [GRCh38]
Chr16:31342491 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.55T>C (p.Leu19=) single nucleotide variant not provided [RCV003660137] Chr16:31261718 [GRCh38]
Chr16:31273039 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2020G>C (p.Val674Leu) single nucleotide variant not provided [RCV003688323] Chr16:31324416 [GRCh38]
Chr16:31335737 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3419T>C (p.Met1140Thr) single nucleotide variant not provided [RCV003713728] Chr16:31331667 [GRCh38]
Chr16:31342988 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.937_942del (p.Phe313_Gln314del) deletion not provided [RCV003575277] Chr16:31275626..31275631 [GRCh38]
Chr16:31286947..31286952 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.428-9C>T single nucleotide variant not provided [RCV003546127] Chr16:31270945 [GRCh38]
Chr16:31282266 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1371C>G (p.Phe457Leu) single nucleotide variant not provided [RCV003687392] Chr16:31297528 [GRCh38]
Chr16:31308849 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1469A>G (p.Gln490Arg) single nucleotide variant not provided [RCV003715429] Chr16:31297626 [GRCh38]
Chr16:31308947 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.4G>T (p.Ala2Ser) single nucleotide variant not provided [RCV003545078] Chr16:31260068 [GRCh38]
Chr16:31271389 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2793-3C>T single nucleotide variant not provided [RCV003826840] Chr16:31329225 [GRCh38]
Chr16:31340546 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3387+20C>T single nucleotide variant not provided [RCV003692081] Chr16:31331295 [GRCh38]
Chr16:31342616 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3105G>C (p.Pro1035=) single nucleotide variant not provided [RCV003662243] Chr16:31330352 [GRCh38]
Chr16:31341673 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2067C>T (p.Ala689=) single nucleotide variant not provided [RCV003573637] Chr16:31324463 [GRCh38]
Chr16:31335784 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1213+7G>T single nucleotide variant not provided [RCV003877486] Chr16:31277056 [GRCh38]
Chr16:31288377 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3403C>A (p.Arg1135=) single nucleotide variant not provided [RCV003827853] Chr16:31331651 [GRCh38]
Chr16:31342972 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2804C>T (p.Ser935Phe) single nucleotide variant not provided [RCV003543848] Chr16:31329239 [GRCh38]
Chr16:31340560 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1404C>T (p.Ser468=) single nucleotide variant not provided [RCV003544217] Chr16:31297561 [GRCh38]
Chr16:31308882 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3191T>G (p.Leu1064Arg) single nucleotide variant not provided [RCV003834714] Chr16:31330520 [GRCh38]
Chr16:31341841 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2738C>T (p.Thr913Ile) single nucleotide variant not provided [RCV003812085] Chr16:31328176 [GRCh38]
Chr16:31339497 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2246G>A (p.Arg749Gln) single nucleotide variant not provided [RCV003811248] Chr16:31324739 [GRCh38]
Chr16:31336060 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2629-16C>T single nucleotide variant not provided [RCV003832036] Chr16:31326840 [GRCh38]
Chr16:31338161 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.428-13T>C single nucleotide variant not provided [RCV003698707] Chr16:31270941 [GRCh38]
Chr16:31282262 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.220G>A (p.Glu74Lys) single nucleotide variant not provided [RCV003698093] Chr16:31265480 [GRCh38]
Chr16:31276801 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3238A>T (p.Thr1080Ser) single nucleotide variant not provided [RCV003832282] Chr16:31330567 [GRCh38]
Chr16:31341888 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.990G>A (p.Glu330=) single nucleotide variant not provided [RCV005062684] Chr16:31275680 [GRCh38]
Chr16:31287001 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1532G>C (p.Gly511Ala) single nucleotide variant not provided [RCV003810897] Chr16:31297779 [GRCh38]
Chr16:31309100 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2480C>G (p.Ser827Cys) single nucleotide variant not provided [RCV003698473] Chr16:31325379 [GRCh38]
Chr16:31336700 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.559-13G>A single nucleotide variant not provided [RCV003833595] Chr16:31271834 [GRCh38]
Chr16:31283155 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2289+1G>T single nucleotide variant not provided [RCV003836492] Chr16:31324783 [GRCh38]
Chr16:31336104 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2903G>C (p.Ser968Thr) single nucleotide variant not provided [RCV003670246] Chr16:31329832 [GRCh38]
Chr16:31341153 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1109G>A (p.Gly370Glu) single nucleotide variant not provided [RCV003851417] Chr16:31276945 [GRCh38]
Chr16:31288266 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2468C>T (p.Pro823Leu) single nucleotide variant not provided [RCV003702775] Chr16:31325367 [GRCh38]
Chr16:31336688 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3154T>G (p.Ser1052Ala) single nucleotide variant not provided [RCV003700231] Chr16:31330401 [GRCh38]
Chr16:31341722 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1287C>A (p.Ile429=) single nucleotide variant not provided [RCV003701500] Chr16:31278040 [GRCh38]
Chr16:31289361 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1707+9T>G single nucleotide variant not provided [RCV003580658] Chr16:31297963 [GRCh38]
Chr16:31309284 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.835G>A (p.Gly279Arg) single nucleotide variant not provided [RCV003703541] Chr16:31273495 [GRCh38]
Chr16:31284816 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.299C>T (p.Pro100Leu) single nucleotide variant not provided [RCV003852050]|not specified [RCV004369503] Chr16:31265871 [GRCh38]
Chr16:31277192 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1454A>G (p.Gln485Arg) single nucleotide variant not provided [RCV003851983] Chr16:31297611 [GRCh38]
Chr16:31308932 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1489C>A (p.Pro497Thr) single nucleotide variant not provided [RCV003698407] Chr16:31297646 [GRCh38]
Chr16:31308967 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2806A>T (p.Thr936Ser) single nucleotide variant not provided [RCV003668694] Chr16:31329241 [GRCh38]
Chr16:31340562 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3171C>T (p.Ile1057=) single nucleotide variant not provided [RCV003561606] Chr16:31330418 [GRCh38]
Chr16:31341739 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2158-13G>A single nucleotide variant not provided [RCV003703322] Chr16:31324638 [GRCh38]
Chr16:31335959 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2418G>A (p.Val806=) single nucleotide variant not provided [RCV003833766] Chr16:31325317 [GRCh38]
Chr16:31336638 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3252_3257dup (p.Gly1086_Ala1087insGlnGly) duplication not provided [RCV003674265] Chr16:31330577..31330578 [GRCh38]
Chr16:31341898..31341899 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1728C>G (p.Leu576=) single nucleotide variant not provided [RCV003815086] Chr16:31321261 [GRCh38]
Chr16:31332582 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.309+14G>A single nucleotide variant not provided [RCV003837617] Chr16:31265895 [GRCh38]
Chr16:31277216 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1708-17C>T single nucleotide variant not provided [RCV003834085] Chr16:31321224 [GRCh38]
Chr16:31332545 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1039G>C (p.Glu347Gln) single nucleotide variant not provided [RCV003557979] Chr16:31276700 [GRCh38]
Chr16:31288021 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.198C>T (p.Cys66=) single nucleotide variant not provided [RCV003851762] Chr16:31265458 [GRCh38]
Chr16:31276779 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.238+12C>T single nucleotide variant not provided [RCV003672459] Chr16:31265510 [GRCh38]
Chr16:31276831 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2063G>A (p.Arg688His) single nucleotide variant not provided [RCV003856099] Chr16:31324459 [GRCh38]
Chr16:31335780 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3388-14C>T single nucleotide variant not provided [RCV003667063] Chr16:31331622 [GRCh38]
Chr16:31342943 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3390C>T (p.Leu1130=) single nucleotide variant not provided [RCV003671983] Chr16:31331638 [GRCh38]
Chr16:31342959 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3054del (p.Val1019fs) deletion not provided [RCV003668645] Chr16:31330154 [GRCh38]
Chr16:31341475 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.590G>A (p.Arg197Gln) single nucleotide variant not provided [RCV003725093] Chr16:31271878 [GRCh38]
Chr16:31283199 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3199G>A (p.Val1067Met) single nucleotide variant not provided [RCV003855354] Chr16:31330528 [GRCh38]
Chr16:31341849 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.559-10C>T single nucleotide variant not provided [RCV003856016] Chr16:31271837 [GRCh38]
Chr16:31283158 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2506-8C>A single nucleotide variant not provided [RCV003851098] Chr16:31325492 [GRCh38]
Chr16:31336813 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3061-9G>C single nucleotide variant not provided [RCV003724557] Chr16:31330299 [GRCh38]
Chr16:31341620 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3453C>G (p.Pro1151=) single nucleotide variant not provided [RCV003852406] Chr16:31331701 [GRCh38]
Chr16:31343022 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1416C>T (p.Thr472=) single nucleotide variant not provided [RCV003838053] Chr16:31297573 [GRCh38]
Chr16:31308894 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1083+5G>A single nucleotide variant not provided [RCV003816445] Chr16:31276749 [GRCh38]
Chr16:31288070 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2953C>G (p.Arg985Gly) single nucleotide variant not provided [RCV003670975] Chr16:31329882 [GRCh38]
Chr16:31341203 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2364-4A>G single nucleotide variant not provided [RCV003698586] Chr16:31325259 [GRCh38]
Chr16:31336580 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3232G>T (p.Val1078Leu) single nucleotide variant not provided [RCV003671014] Chr16:31330561 [GRCh38]
Chr16:31341882 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2869-6G>A single nucleotide variant not provided [RCV003725233] Chr16:31329792 [GRCh38]
Chr16:31341113 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.859-19C>T single nucleotide variant not provided [RCV003814457] Chr16:31275530 [GRCh38]
Chr16:31286851 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2560G>A (p.Glu854Lys) single nucleotide variant not provided [RCV003838844] Chr16:31325554 [GRCh38]
Chr16:31336875 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2158-15C>T single nucleotide variant not provided [RCV003559708] Chr16:31324636 [GRCh38]
Chr16:31335957 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2888G>C (p.Arg963Thr) single nucleotide variant not provided [RCV003699635] Chr16:31329817 [GRCh38]
Chr16:31341138 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1390G>A (p.Val464Met) single nucleotide variant not provided [RCV003837118] Chr16:31297547 [GRCh38]
Chr16:31308868 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1497+20G>A single nucleotide variant not provided [RCV003854804] Chr16:31297674 [GRCh38]
Chr16:31308995 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3003G>A (p.Lys1001=) single nucleotide variant not provided [RCV003723950] Chr16:31330107 [GRCh38]
Chr16:31341428 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3313C>A (p.Pro1105Thr) single nucleotide variant not provided [RCV003663994] Chr16:31331201 [GRCh38]
Chr16:31342522 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2871C>A (p.Val957=) single nucleotide variant not provided [RCV003711076] Chr16:31329800 [GRCh38]
Chr16:31341121 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.281_282delinsGT (p.Ala94Gly) indel not provided [RCV003675792] Chr16:31265853..31265854 [GRCh38]
Chr16:31277174..31277175 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3447C>T (p.Ala1149=) single nucleotide variant not provided [RCV003731356] Chr16:31331695 [GRCh38]
Chr16:31343016 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1695C>T (p.Pro565=) single nucleotide variant not provided [RCV003731546] Chr16:31297942 [GRCh38]
Chr16:31309263 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.561del (p.Ser188fs) deletion not provided [RCV003732746] Chr16:31271849 [GRCh38]
Chr16:31283170 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3313C>G (p.Pro1105Ala) single nucleotide variant not provided [RCV003733776] Chr16:31331201 [GRCh38]
Chr16:31342522 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2629-16C>G single nucleotide variant not provided [RCV003676057] Chr16:31326840 [GRCh38]
Chr16:31338161 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1669G>A (p.Gly557Arg) single nucleotide variant not provided [RCV003820736] Chr16:31297916 [GRCh38]
Chr16:31309237 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1223C>A (p.Ala408Asp) single nucleotide variant not provided [RCV003551567] Chr16:31277976 [GRCh38]
Chr16:31289297 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.753G>A (p.Lys251=) single nucleotide variant not provided [RCV003562635] Chr16:31273413 [GRCh38]
Chr16:31284734 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3174+9G>A single nucleotide variant not provided [RCV003842208] Chr16:31330430 [GRCh38]
Chr16:31341751 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1496G>T (p.Gly499Val) single nucleotide variant not provided [RCV003679405] Chr16:31297653 [GRCh38]
Chr16:31308974 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.134G>A (p.Arg45Lys) single nucleotide variant not provided [RCV003731213] Chr16:31261797 [GRCh38]
Chr16:31273118 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3060+14T>G single nucleotide variant not provided [RCV003709153] Chr16:31330178 [GRCh38]
Chr16:31341499 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.309+8G>C single nucleotide variant not provided [RCV003735760] Chr16:31265889 [GRCh38]
Chr16:31277210 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1140A>G (p.Leu380=) single nucleotide variant not provided [RCV003709679] Chr16:31276976 [GRCh38]
Chr16:31288297 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2457C>G (p.Thr819=) single nucleotide variant not provided [RCV003863291] Chr16:31325356 [GRCh38]
Chr16:31336677 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3440C>T (p.Pro1147Leu) single nucleotide variant not provided [RCV003823619]|not specified [RCV004366784] Chr16:31331688 [GRCh38]
Chr16:31343009 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2301G>A (p.Glu767=) single nucleotide variant not provided [RCV003680507] Chr16:31324969 [GRCh38]
Chr16:31336290 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2054C>T (p.Pro685Leu) single nucleotide variant not provided [RCV003864328] Chr16:31324450 [GRCh38]
Chr16:31335771 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2869-10C>A single nucleotide variant not provided [RCV003819204] Chr16:31329788 [GRCh38]
Chr16:31341109 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.132C>A (p.Ser44=) single nucleotide variant not provided [RCV003680208] Chr16:31261795 [GRCh38]
Chr16:31273116 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1556G>A (p.Arg519His) single nucleotide variant not provided [RCV003852874] Chr16:31297803 [GRCh38]
Chr16:31309124 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2447C>T (p.Thr816Ile) single nucleotide variant not provided [RCV003566900] Chr16:31325346 [GRCh38]
Chr16:31336667 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2840C>G (p.Thr947Ser) single nucleotide variant not provided [RCV003556666] Chr16:31329275 [GRCh38]
Chr16:31340596 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.310-7C>T single nucleotide variant not provided [RCV003564657] Chr16:31266023 [GRCh38]
Chr16:31277344 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1329G>A (p.Glu443=) single nucleotide variant not provided [RCV003707620] Chr16:31278082 [GRCh38]
Chr16:31289403 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1398G>A (p.Val466=) single nucleotide variant not provided [RCV003705422] Chr16:31297555 [GRCh38]
Chr16:31308876 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1010-10C>T single nucleotide variant not provided [RCV003731010] Chr16:31276661 [GRCh38]
Chr16:31287982 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.378T>C (p.Phe126=) single nucleotide variant not provided [RCV003841797] Chr16:31266098 [GRCh38]
Chr16:31277419 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2236G>A (p.Gly746Arg) single nucleotide variant not provided [RCV003566250] Chr16:31324729 [GRCh38]
Chr16:31336050 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1826T>C (p.Val609Ala) single nucleotide variant not provided [RCV003710953] Chr16:31321359 [GRCh38]
Chr16:31332680 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1231A>G (p.Ile411Val) single nucleotide variant not provided [RCV003857992] Chr16:31277984 [GRCh38]
Chr16:31289305 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3297G>C (p.Pro1099=) single nucleotide variant not provided [RCV003670625] Chr16:31331185 [GRCh38]
Chr16:31342506 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1267G>A (p.Ala423Thr) single nucleotide variant not provided [RCV003566271] Chr16:31278020 [GRCh38]
Chr16:31289341 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2060C>T (p.Ser687Phe) single nucleotide variant not provided [RCV003869575] Chr16:31324456 [GRCh38]
Chr16:31335777 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.500G>A (p.Arg167Gln) single nucleotide variant not provided [RCV003562378] Chr16:31271026 [GRCh38]
Chr16:31282347 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.350C>T (p.Thr117Met) single nucleotide variant not provided [RCV003858207] Chr16:31266070 [GRCh38]
Chr16:31277391 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3383A>T (p.Tyr1128Phe) single nucleotide variant not provided [RCV003680603] Chr16:31331271 [GRCh38]
Chr16:31342592 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.424C>T (p.Arg142Ter) single nucleotide variant not provided [RCV003554326] Chr16:31266144 [GRCh38]
Chr16:31277465 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3335G>C (p.Ser1112Thr) single nucleotide variant not provided [RCV003868179] Chr16:31331223 [GRCh38]
Chr16:31342544 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2050C>T (p.Arg684Cys) single nucleotide variant not provided [RCV003731908] Chr16:31324446 [GRCh38]
Chr16:31335767 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1357-15T>C single nucleotide variant not provided [RCV003868294] Chr16:31297499 [GRCh38]
Chr16:31308820 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.704+11C>T single nucleotide variant not provided [RCV003723259] Chr16:31272003 [GRCh38]
Chr16:31283324 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2976+3G>T single nucleotide variant not provided [RCV003552867] Chr16:31329908 [GRCh38]
Chr16:31341229 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2926C>T (p.Arg976Trp) single nucleotide variant not provided [RCV003868704] Chr16:31329855 [GRCh38]
Chr16:31341176 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2761G>A (p.Val921Met) single nucleotide variant not provided [RCV003562999] Chr16:31328199 [GRCh38]
Chr16:31339520 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.239-6C>T single nucleotide variant not provided [RCV003868761] Chr16:31265805 [GRCh38]
Chr16:31277126 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.302_303delinsCA (p.Gln101Pro) indel not provided [RCV003567716] Chr16:31265874..31265875 [GRCh38]
Chr16:31277195..31277196 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3308C>A (p.Pro1103His) single nucleotide variant not provided [RCV003866936] Chr16:31331196 [GRCh38]
Chr16:31342517 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2486G>A (p.Arg829Gln) single nucleotide variant not provided [RCV003737061] Chr16:31325385 [GRCh38]
Chr16:31336706 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2345T>G (p.Ile782Ser) single nucleotide variant not provided [RCV003565734] Chr16:31325013 [GRCh38]
Chr16:31336334 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1708-7C>T single nucleotide variant not provided [RCV003718967] Chr16:31321234 [GRCh38]
Chr16:31332555 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3060+10dup duplication not provided [RCV003567675] Chr16:31330173..31330174 [GRCh38]
Chr16:31341494..31341495 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1034C>A (p.Ser345Tyr) single nucleotide variant not provided [RCV003737067] Chr16:31276695 [GRCh38]
Chr16:31288016 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1493G>A (p.Arg498Lys) single nucleotide variant not provided [RCV003685876] Chr16:31297650 [GRCh38]
Chr16:31308971 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1292T>G (p.Leu431Arg) single nucleotide variant not provided [RCV003862907] Chr16:31278045 [GRCh38]
Chr16:31289366 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2363+10C>T single nucleotide variant not provided [RCV003867137] Chr16:31325041 [GRCh38]
Chr16:31336362 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2189T>G (p.Val730Gly) single nucleotide variant not provided [RCV003682138] Chr16:31324682 [GRCh38]
Chr16:31336003 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1433G>A (p.Gly478Glu) single nucleotide variant not provided [RCV003868470] Chr16:31297590 [GRCh38]
Chr16:31308911 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.858+16del deletion not provided [RCV003868378] Chr16:31273534 [GRCh38]
Chr16:31284855 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2485C>T (p.Arg829Trp) single nucleotide variant not provided [RCV003721588] Chr16:31325384 [GRCh38]
Chr16:31336705 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.988G>A (p.Glu330Lys) single nucleotide variant not provided [RCV003868651] Chr16:31275678 [GRCh38]
Chr16:31286999 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1991G>A (p.Arg664Gln) single nucleotide variant not provided [RCV003554132]|not specified [RCV004634281] Chr16:31321616 [GRCh38]
Chr16:31332937 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1110G>T (p.Gly370=) single nucleotide variant not provided [RCV003706648] Chr16:31276946 [GRCh38]
Chr16:31288267 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.146G>T (p.Gly49Val) single nucleotide variant not provided [RCV003677397] Chr16:31265406 [GRCh38]
Chr16:31276727 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1274G>A (p.Arg425Gln) single nucleotide variant not provided [RCV003721921] Chr16:31278027 [GRCh38]
Chr16:31289348 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1285A>G (p.Ile429Val) single nucleotide variant not provided [RCV003723250] Chr16:31278038 [GRCh38]
Chr16:31289359 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1899G>A (p.Arg633=) single nucleotide variant not provided [RCV003735773] Chr16:31321524 [GRCh38]
Chr16:31332845 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2206T>C (p.Ser736Pro) single nucleotide variant not provided [RCV003683034] Chr16:31324699 [GRCh38]
Chr16:31336020 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1928T>C (p.Val643Ala) single nucleotide variant not provided [RCV003841054] Chr16:31321553 [GRCh38]
Chr16:31332874 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.702G>A (p.Val234=) single nucleotide variant not provided [RCV003841117] Chr16:31271990 [GRCh38]
Chr16:31283311 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1360G>A (p.Gly454Ser) single nucleotide variant not provided [RCV003866424]|not specified [RCV004369549] Chr16:31297517 [GRCh38]
Chr16:31308838 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2002+3G>A single nucleotide variant not provided [RCV003707058] Chr16:31321630 [GRCh38]
Chr16:31332951 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2214G>A (p.Val738=) single nucleotide variant not provided [RCV003869083] Chr16:31324707 [GRCh38]
Chr16:31336028 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.28+17T>A single nucleotide variant not provided [RCV003676533] Chr16:31260109 [GRCh38]
Chr16:31271430 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.243C>T (p.Pro81=) single nucleotide variant not provided [RCV003823607] Chr16:31265815 [GRCh38]
Chr16:31277136 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1497+19T>C single nucleotide variant not provided [RCV003709141] Chr16:31297673 [GRCh38]
Chr16:31308994 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.148G>A (p.Ala50Thr) single nucleotide variant not provided [RCV003682019] Chr16:31265408 [GRCh38]
Chr16:31276729 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1237C>T (p.Arg413Trp) single nucleotide variant not provided [RCV003564494] Chr16:31277990 [GRCh38]
Chr16:31289311 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.914C>T (p.Ser305Phe) single nucleotide variant not provided [RCV003852826] Chr16:31275604 [GRCh38]
Chr16:31286925 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1440C>G (p.Pro480=) single nucleotide variant not provided [RCV003567650] Chr16:31297597 [GRCh38]
Chr16:31308918 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.859-2A>G single nucleotide variant not provided [RCV003733356] Chr16:31275547 [GRCh38]
Chr16:31286868 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.986G>A (p.Arg329Gln) single nucleotide variant not provided [RCV003865075] Chr16:31275676 [GRCh38]
Chr16:31286997 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1876T>C (p.Phe626Leu) single nucleotide variant not provided [RCV003682375] Chr16:31321501 [GRCh38]
Chr16:31332822 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3163T>G (p.Trp1055Gly) single nucleotide variant not provided [RCV003679844] Chr16:31330410 [GRCh38]
Chr16:31341731 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3045G>A (p.Arg1015=) single nucleotide variant not provided [RCV003858184] Chr16:31330149 [GRCh38]
Chr16:31341470 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1083+9C>G single nucleotide variant not provided [RCV003819654] Chr16:31276753 [GRCh38]
Chr16:31288074 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.706C>T (p.Arg236Ter) single nucleotide variant not provided [RCV003859475] Chr16:31273366 [GRCh38]
Chr16:31284687 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1357-17G>C single nucleotide variant not provided [RCV003853668] Chr16:31297497 [GRCh38]
Chr16:31308818 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2869-7G>A single nucleotide variant not provided [RCV003562608] Chr16:31329791 [GRCh38]
Chr16:31341112 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3244C>T (p.Leu1082=) single nucleotide variant not provided [RCV003542795] Chr16:31330573 [GRCh38]
Chr16:31341894 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1476C>T (p.Ser492=) single nucleotide variant not provided [RCV003563722] Chr16:31297633 [GRCh38]
Chr16:31308954 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.718A>G (p.Asn240Asp) single nucleotide variant not provided [RCV003857235] Chr16:31273378 [GRCh38]
Chr16:31284699 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3319C>T (p.Pro1107Ser) single nucleotide variant not provided [RCV003677269] Chr16:31331207 [GRCh38]
Chr16:31342528 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1821G>T (p.Gly607=) single nucleotide variant not provided [RCV003707695] Chr16:31321354 [GRCh38]
Chr16:31332675 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2792+7G>C single nucleotide variant not provided [RCV003822354] Chr16:31328237 [GRCh38]
Chr16:31339558 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3182A>C (p.His1061Pro) single nucleotide variant not provided [RCV003681622] Chr16:31330511 [GRCh38]
Chr16:31341832 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1839-8C>T single nucleotide variant not provided [RCV003859918] Chr16:31321456 [GRCh38]
Chr16:31332777 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.761T>C (p.Val254Ala) single nucleotide variant not provided [RCV003674980] Chr16:31273421 [GRCh38]
Chr16:31284742 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.778G>A (p.Glu260Lys) single nucleotide variant not provided [RCV003566491] Chr16:31273438 [GRCh38]
Chr16:31284759 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3120G>A (p.Gln1040=) single nucleotide variant not provided [RCV003550850] Chr16:31330367 [GRCh38]
Chr16:31341688 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.375G>A (p.Leu125=) single nucleotide variant not provided [RCV003677677] Chr16:31266095 [GRCh38]
Chr16:31277416 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2124C>G (p.Thr708=) single nucleotide variant not provided [RCV003862160] Chr16:31324520 [GRCh38]
Chr16:31335841 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2146C>T (p.Leu716=) single nucleotide variant not provided [RCV003553627] Chr16:31324542 [GRCh38]
Chr16:31335863 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.15C>G (p.Val5=) single nucleotide variant not provided [RCV003541952] Chr16:31260079 [GRCh38]
Chr16:31271400 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1031G>A (p.Ser344Asn) single nucleotide variant not provided [RCV003820291] Chr16:31276692 [GRCh38]
Chr16:31288013 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1371C>T (p.Phe457=) single nucleotide variant not provided [RCV003728768] Chr16:31297528 [GRCh38]
Chr16:31308849 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2548G>A (p.Ala850Thr) single nucleotide variant not provided [RCV003566788] Chr16:31325542 [GRCh38]
Chr16:31336863 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.795C>T (p.Pro265=) single nucleotide variant ITGAM-related disorder [RCV003976309] Chr16:31273455 [GRCh38]
Chr16:31284776 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1032C>T (p.Ser344=) single nucleotide variant ITGAM-related disorder [RCV003954744] Chr16:31276693 [GRCh38]
Chr16:31288014 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.823G>C (p.Ala275Pro) single nucleotide variant ITGAM-related disorder [RCV003961885] Chr16:31273483 [GRCh38]
Chr16:31284804 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2680A>G (p.Lys894Glu) single nucleotide variant not provided [RCV005102237]|not specified [RCV004633434] Chr16:31326907 [GRCh38]
Chr16:31338228 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2709T>C (p.Ser903=) single nucleotide variant not specified [RCV004633435] Chr16:31328147 [GRCh38]
Chr16:31339468 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1657T>C (p.Tyr553His) single nucleotide variant not specified [RCV004405738] Chr16:31297904 [GRCh38]
Chr16:31309225 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2215G>A (p.Gly739Arg) single nucleotide variant not specified [RCV004405739] Chr16:31324708 [GRCh38]
Chr16:31336029 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.386A>G (p.Asn129Ser) single nucleotide variant not specified [RCV004405740] Chr16:31266106 [GRCh38]
Chr16:31277427 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.630C>A (p.Asn210Lys) single nucleotide variant not provided [RCV005065045]|not specified [RCV004405742] Chr16:31271918 [GRCh38]
Chr16:31283239 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31271386)_(31273138_?)del deletion not provided [RCV004582814] Chr16:31271386..31273138 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31332542)_(31343028_?)dup duplication not provided [RCV004582817] Chr16:31332542..31343028 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31282255)_(31282425_?)del deletion not provided [RCV004582813] Chr16:31282255..31282425 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31271386)_(31343028_?)dup duplication not provided [RCV004582815] Chr16:31271386..31343028 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_31271386)_(31282425_?)dup duplication not provided [RCV004582816] Chr16:31271386..31282425 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2351T>G (p.Phe784Cys) single nucleotide variant not specified [RCV004633436] Chr16:31325019 [GRCh38]
Chr16:31336340 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30907349-31334236)x1 copy number loss not provided [RCV004819387] Chr16:30907349..31334236 [GRCh37]
Chr16:16p11.2
pathogenic
NM_000632.4(ITGAM):c.1462G>A (p.Gly488Arg) single nucleotide variant not provided [RCV005138910] Chr16:31297619 [GRCh38]
Chr16:31308940 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2227T>C (p.Ser743Pro) single nucleotide variant not provided [RCV005067734] Chr16:31324720 [GRCh38]
Chr16:31336041 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.428-7T>G single nucleotide variant not provided [RCV005140612] Chr16:31270947 [GRCh38]
Chr16:31282268 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.179G>A (p.Arg60Lys) single nucleotide variant not provided [RCV005140722] Chr16:31265439 [GRCh38]
Chr16:31276760 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1084-19T>C single nucleotide variant not provided [RCV005066560] Chr16:31276901 [GRCh38]
Chr16:31288222 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2927G>T (p.Arg976Leu) single nucleotide variant not provided [RCV005087807] Chr16:31329856 [GRCh38]
Chr16:31341177 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1213+1G>T single nucleotide variant not provided [RCV005138248] Chr16:31277050 [GRCh38]
Chr16:31288371 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2506-1G>A single nucleotide variant not provided [RCV005141113] Chr16:31325499 [GRCh38]
Chr16:31336820 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2523A>T (p.Arg841=) single nucleotide variant not provided [RCV005138751] Chr16:31325517 [GRCh38]
Chr16:31336838 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.705-3C>T single nucleotide variant not provided [RCV005068073] Chr16:31273362 [GRCh38]
Chr16:31284683 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2985G>A (p.Ser995=) single nucleotide variant not provided [RCV005142810] Chr16:31330089 [GRCh38]
Chr16:31341410 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.98G>A (p.Gly33Asp) single nucleotide variant not provided [RCV005136024] Chr16:31261761 [GRCh38]
Chr16:31273082 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2716A>C (p.Asn906His) single nucleotide variant not provided [RCV005136092] Chr16:31328154 [GRCh38]
Chr16:31339475 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2918T>A (p.Val973Glu) single nucleotide variant not provided [RCV005143196] Chr16:31329847 [GRCh38]
Chr16:31341168 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3156G>A (p.Ser1052=) single nucleotide variant not provided [RCV005121955] Chr16:31330403 [GRCh38]
Chr16:31341724 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2002+11G>C single nucleotide variant not provided [RCV005133749] Chr16:31321638 [GRCh38]
Chr16:31332959 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2404G>T (p.Val802Leu) single nucleotide variant not provided [RCV005129417] Chr16:31325303 [GRCh38]
Chr16:31336624 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1812A>T (p.Gly604=) single nucleotide variant not provided [RCV005119241] Chr16:31321345 [GRCh38]
Chr16:31332666 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.305T>C (p.Leu102Pro) single nucleotide variant not provided [RCV005123828] Chr16:31265877 [GRCh38]
Chr16:31277198 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.704+9C>T single nucleotide variant not provided [RCV005109704] Chr16:31272001 [GRCh38]
Chr16:31283322 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2363+5G>A single nucleotide variant not provided [RCV005108668] Chr16:31325036 [GRCh38]
Chr16:31336357 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1396G>A (p.Val466Met) single nucleotide variant not provided [RCV005063717] Chr16:31297553 [GRCh38]
Chr16:31308874 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3178T>A (p.Ser1060Thr) single nucleotide variant not specified [RCV004934224] Chr16:31330507 [GRCh38]
Chr16:31341828 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2289+17G>C single nucleotide variant not provided [RCV005130556] Chr16:31324799 [GRCh38]
Chr16:31336120 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2176G>C (p.Val726Leu) single nucleotide variant not provided [RCV005087820] Chr16:31324669 [GRCh38]
Chr16:31335990 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.238+20G>C single nucleotide variant not provided [RCV005125890] Chr16:31265518 [GRCh38]
Chr16:31276839 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1500G>A (p.Arg500=) single nucleotide variant not provided [RCV005087094] Chr16:31297747 [GRCh38]
Chr16:31309068 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2709-8C>G single nucleotide variant not provided [RCV005118483] Chr16:31328139 [GRCh38]
Chr16:31339460 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1789G>A (p.Gly597Arg) single nucleotide variant not provided [RCV005117498] Chr16:31321322 [GRCh38]
Chr16:31332643 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.547T>C (p.Ser183Pro) single nucleotide variant not provided [RCV005088946] Chr16:31271073 [GRCh38]
Chr16:31282394 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2590del (p.Cys864fs) deletion not provided [RCV005065660] Chr16:31325584 [GRCh38]
Chr16:31336905 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1828C>T (p.Leu610=) single nucleotide variant not provided [RCV005066685] Chr16:31321361 [GRCh38]
Chr16:31332682 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2119C>G (p.Leu707Val) single nucleotide variant not provided [RCV005122688] Chr16:31324515 [GRCh38]
Chr16:31335836 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2629G>A (p.Val877Ile) single nucleotide variant not provided [RCV005062586] Chr16:31326856 [GRCh38]
Chr16:31338177 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1359C>G (p.Ile453Met) single nucleotide variant not provided [RCV005061774]|not specified [RCV004934222] Chr16:31297516 [GRCh38]
Chr16:31308837 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1807G>A (p.Val603Ile) single nucleotide variant not provided [RCV005110380]|not specified [RCV004934223] Chr16:31321340 [GRCh38]
Chr16:31332661 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3336C>G (p.Ser1112Arg) single nucleotide variant not specified [RCV004934226] Chr16:31331224 [GRCh38]
Chr16:31342545 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1712T>C (p.Ile571Thr) single nucleotide variant not specified [RCV004934227] Chr16:31321245 [GRCh38]
Chr16:31332566 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1075A>G (p.Ile359Val) single nucleotide variant not provided [RCV005110381]|not specified [RCV004934228] Chr16:31276736 [GRCh38]
Chr16:31288057 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3404G>C (p.Arg1135Pro) single nucleotide variant not specified [RCV004934229] Chr16:31331652 [GRCh38]
Chr16:31342973 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1688T>C (p.Ile563Thr) single nucleotide variant not specified [RCV004934230] Chr16:31297935 [GRCh38]
Chr16:31309256 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.157G>C (p.Glu53Gln) single nucleotide variant not specified [RCV004934231] Chr16:31265417 [GRCh38]
Chr16:31276738 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.91G>A (p.Ala31Thr) single nucleotide variant not provided [RCV005061775]|not specified [RCV004934232] Chr16:31261754 [GRCh38]
Chr16:31273075 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.441G>C (p.Glu147Asp) single nucleotide variant not provided [RCV005157100] Chr16:31270967 [GRCh38]
Chr16:31282288 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3347del (p.Gly1116fs) deletion not provided [RCV005197148] Chr16:31331231 [GRCh38]
Chr16:31342552 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1793T>A (p.Leu598Gln) single nucleotide variant not provided [RCV005204334] Chr16:31321326 [GRCh38]
Chr16:31332647 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3432G>C (p.Gly1144=) single nucleotide variant not provided [RCV005079205] Chr16:31331680 [GRCh38]
Chr16:31343001 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2025T>A (p.Thr675=) single nucleotide variant not provided [RCV005149322] Chr16:31324421 [GRCh38]
Chr16:31335742 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.770C>T (p.Thr257Met) single nucleotide variant not provided [RCV005163787] Chr16:31273430 [GRCh38]
Chr16:31284751 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2843G>A (p.Ser948Asn) single nucleotide variant not provided [RCV005166714] Chr16:31329278 [GRCh38]
Chr16:31340599 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.139G>A (p.Val47Met) single nucleotide variant not provided [RCV005192072] Chr16:31265399 [GRCh38]
Chr16:31276720 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3278C>T (p.Thr1093Met) single nucleotide variant not provided [RCV005192205] Chr16:31331166 [GRCh38]
Chr16:31342487 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3093G>A (p.Gln1031=) single nucleotide variant not provided [RCV005207356] Chr16:31330340 [GRCh38]
Chr16:31341661 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1825G>A (p.Val609Met) single nucleotide variant not provided [RCV005069865] Chr16:31321358 [GRCh38]
Chr16:31332679 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1182A>C (p.Arg394Ser) single nucleotide variant not provided [RCV005194128] Chr16:31277018 [GRCh38]
Chr16:31288339 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.418G>T (p.Ala140Ser) single nucleotide variant not provided [RCV005172715] Chr16:31266138 [GRCh38]
Chr16:31277459 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2630T>C (p.Val877Ala) single nucleotide variant not provided [RCV005194704] Chr16:31326857 [GRCh38]
Chr16:31338178 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.270C>A (p.Gly90=) single nucleotide variant not provided [RCV005173804] Chr16:31265842 [GRCh38]
Chr16:31277163 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2289+19T>C single nucleotide variant not provided [RCV005080003] Chr16:31324801 [GRCh38]
Chr16:31336122 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2333A>G (p.Asp778Gly) single nucleotide variant not provided [RCV005159146] Chr16:31325001 [GRCh38]
Chr16:31336322 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.509A>G (p.Lys170Arg) single nucleotide variant not provided [RCV005072282] Chr16:31271035 [GRCh38]
Chr16:31282356 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.707G>A (p.Arg236Gln) single nucleotide variant not provided [RCV005081324] Chr16:31273367 [GRCh38]
Chr16:31284688 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2734A>C (p.Lys912Gln) single nucleotide variant not provided [RCV005074238] Chr16:31328172 [GRCh38]
Chr16:31339493 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3061-16C>A single nucleotide variant not provided [RCV005177045] Chr16:31330292 [GRCh38]
Chr16:31341613 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1083+5G>C single nucleotide variant not provided [RCV005193112] Chr16:31276749 [GRCh38]
Chr16:31288070 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2615C>T (p.Pro872Leu) single nucleotide variant not provided [RCV005151189] Chr16:31325609 [GRCh38]
Chr16:31336930 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.705-9C>T single nucleotide variant not provided [RCV005205241] Chr16:31273356 [GRCh38]
Chr16:31284677 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3302A>G (p.Glu1101Gly) single nucleotide variant not provided [RCV005195411] Chr16:31331190 [GRCh38]
Chr16:31342511 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1708-6C>A single nucleotide variant not provided [RCV005084270] Chr16:31321235 [GRCh38]
Chr16:31332556 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2879T>C (p.Leu960Pro) single nucleotide variant not provided [RCV005153747] Chr16:31329808 [GRCh38]
Chr16:31341129 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3129C>G (p.Phe1043Leu) single nucleotide variant not provided [RCV005157760] Chr16:31330376 [GRCh38]
Chr16:31341697 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3172A>G (p.Lys1058Glu) single nucleotide variant not provided [RCV005143616] Chr16:31330419 [GRCh38]
Chr16:31341740 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2505+2T>C single nucleotide variant not provided [RCV005146139] Chr16:31325406 [GRCh38]
Chr16:31336727 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2512C>T (p.Arg838Cys) single nucleotide variant not provided [RCV005147232] Chr16:31325506 [GRCh38]
Chr16:31336827 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2708+6C>T single nucleotide variant not provided [RCV005075938] Chr16:31326941 [GRCh38]
Chr16:31338262 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1001C>T (p.Ala334Val) single nucleotide variant not provided [RCV005163065] Chr16:31275691 [GRCh38]
Chr16:31287012 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.324C>A (p.Thr108=) single nucleotide variant not provided [RCV005178698] Chr16:31266044 [GRCh38]
Chr16:31277365 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1306del (p.Arg436fs) deletion not provided [RCV005077959] Chr16:31278059 [GRCh38]
Chr16:31289380 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2733C>T (p.Asn911=) single nucleotide variant not provided [RCV005165427] Chr16:31328171 [GRCh38]
Chr16:31339492 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.135-14A>C single nucleotide variant not provided [RCV005076580] Chr16:31265381 [GRCh38]
Chr16:31276702 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1299G>T (p.Ala433=) single nucleotide variant not provided [RCV005078886] Chr16:31278052 [GRCh38]
Chr16:31289373 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1885A>T (p.Arg629Trp) single nucleotide variant not provided [RCV005076729] Chr16:31321510 [GRCh38]
Chr16:31332831 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2868+10T>G single nucleotide variant not provided [RCV005073502] Chr16:31329313 [GRCh38]
Chr16:31340634 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.921G>T (p.Pro307=) single nucleotide variant not provided [RCV005084200] Chr16:31275611 [GRCh38]
Chr16:31286932 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2967C>T (p.Thr989=) single nucleotide variant not provided [RCV005157923] Chr16:31329896 [GRCh38]
Chr16:31341217 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2866C>G (p.Gln956Glu) single nucleotide variant not provided [RCV005172704] Chr16:31329301 [GRCh38]
Chr16:31340622 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.238G>A (p.Val80Ile) single nucleotide variant not provided [RCV005172749] Chr16:31265498 [GRCh38]
Chr16:31276819 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1219G>A (p.Ala407Thr) single nucleotide variant not provided [RCV005188331] Chr16:31277972 [GRCh38]
Chr16:31289293 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1084-18G>A single nucleotide variant not provided [RCV005080566] Chr16:31276902 [GRCh38]
Chr16:31288223 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.610G>A (p.Glu204Lys) single nucleotide variant not provided [RCV005204147] Chr16:31271898 [GRCh38]
Chr16:31283219 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2267C>G (p.Ala756Gly) single nucleotide variant not provided [RCV005205268] Chr16:31324760 [GRCh38]
Chr16:31336081 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1820G>A (p.Gly607Glu) single nucleotide variant not provided [RCV005153104] Chr16:31321353 [GRCh38]
Chr16:31332674 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.30C>T (p.Ala10=) single nucleotide variant not provided [RCV005160639] Chr16:31261693 [GRCh38]
Chr16:31273014 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2141T>G (p.Leu714Arg) single nucleotide variant not provided [RCV005167588] Chr16:31324537 [GRCh38]
Chr16:31335858 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1658A>G (p.Tyr553Cys) single nucleotide variant not provided [RCV005183504] Chr16:31297905 [GRCh38]
Chr16:31309226 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1652C>T (p.Ala551Val) single nucleotide variant not provided [RCV005175377] Chr16:31297899 [GRCh38]
Chr16:31309220 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3044G>A (p.Arg1015Gln) single nucleotide variant not provided [RCV005145844] Chr16:31330148 [GRCh38]
Chr16:31341469 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.216A>T (p.Ser72=) single nucleotide variant not provided [RCV005146294] Chr16:31265476 [GRCh38]
Chr16:31276797 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1356+19G>A single nucleotide variant not provided [RCV005154297] Chr16:31278128 [GRCh38]
Chr16:31289449 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3388-18C>T single nucleotide variant not provided [RCV005072342] Chr16:31331618 [GRCh38]
Chr16:31342939 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1711A>G (p.Ile571Val) single nucleotide variant not provided [RCV005169363] Chr16:31321244 [GRCh38]
Chr16:31332565 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2629-5T>C single nucleotide variant not provided [RCV005170094] Chr16:31326851 [GRCh38]
Chr16:31338172 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.157G>A (p.Glu53Lys) single nucleotide variant not provided [RCV005193111] Chr16:31265417 [GRCh38]
Chr16:31276738 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2831C>A (p.Ser944Ter) single nucleotide variant not provided [RCV005178434] Chr16:31329266 [GRCh38]
Chr16:31340587 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2281A>C (p.Thr761Pro) single nucleotide variant not provided [RCV005072632] Chr16:31324774 [GRCh38]
Chr16:31336095 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.206G>T (p.Ser69Ile) single nucleotide variant not provided [RCV005193793] Chr16:31265466 [GRCh38]
Chr16:31276787 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2137A>G (p.Thr713Ala) single nucleotide variant not provided [RCV005152542] Chr16:31324533 [GRCh38]
Chr16:31335854 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.212G>C (p.Gly71Ala) single nucleotide variant not provided [RCV005163566] Chr16:31265472 [GRCh38]
Chr16:31276793 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3342C>G (p.Val1114=) single nucleotide variant not provided [RCV005177860] Chr16:31331230 [GRCh38]
Chr16:31342551 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3050C>T (p.Ala1017Val) single nucleotide variant not provided [RCV005156613] Chr16:31330154 [GRCh38]
Chr16:31341475 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3276+20A>G single nucleotide variant not provided [RCV005178701] Chr16:31330625 [GRCh38]
Chr16:31341946 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1836C>T (p.Leu612=) single nucleotide variant not provided [RCV005194109] Chr16:31321369 [GRCh38]
Chr16:31332690 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1718G>C (p.Gly573Ala) single nucleotide variant not provided [RCV005149598] Chr16:31321251 [GRCh38]
Chr16:31332572 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.141G>A (p.Val47=) single nucleotide variant not provided [RCV005164941] Chr16:31265401 [GRCh38]
Chr16:31276722 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1214-7C>A single nucleotide variant not provided [RCV005074623] Chr16:31277960 [GRCh38]
Chr16:31289281 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.1968T>A (p.His656Gln) single nucleotide variant not provided [RCV005155602] Chr16:31321593 [GRCh38]
Chr16:31332914 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.231C>A (p.Arg77=) single nucleotide variant not provided [RCV005199342] Chr16:31265491 [GRCh38]
Chr16:31276812 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.3046A>G (p.Lys1016Glu) single nucleotide variant not provided [RCV005165987] Chr16:31330150 [GRCh38]
Chr16:31341471 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1886G>T (p.Arg629Met) single nucleotide variant not provided [RCV005173744] Chr16:31321511 [GRCh38]
Chr16:31332832 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3200T>C (p.Val1067Ala) single nucleotide variant not provided [RCV005158981] Chr16:31330529 [GRCh38]
Chr16:31341850 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.687G>A (p.Thr229=) single nucleotide variant not provided [RCV005173961] Chr16:31271975 [GRCh38]
Chr16:31283296 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2051G>A (p.Arg684His) single nucleotide variant not specified [RCV005355064] Chr16:31324447 [GRCh38]
Chr16:31335768 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2482T>C (p.Tyr828His) single nucleotide variant not specified [RCV005355065] Chr16:31325381 [GRCh38]
Chr16:31336702 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2749C>G (p.Leu917Val) single nucleotide variant not specified [RCV005370523] Chr16:31328187 [GRCh38]
Chr16:31339508 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.764T>A (p.Val255Asp) single nucleotide variant not specified [RCV005370522] Chr16:31273424 [GRCh38]
Chr16:31284745 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2924T>A (p.Val975Asp) single nucleotide variant not specified [RCV005370524] Chr16:31329853 [GRCh38]
Chr16:31341174 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1813G>A (p.Ala605Thr) single nucleotide variant not specified [RCV005355062] Chr16:31321346 [GRCh38]
Chr16:31332667 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3430G>C (p.Gly1144Arg) single nucleotide variant not specified [RCV005370521] Chr16:31331678 [GRCh38]
Chr16:31342999 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.3049G>A (p.Ala1017Thr) single nucleotide variant not specified [RCV005370525] Chr16:31330153 [GRCh38]
Chr16:31341474 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.763G>T (p.Val255Phe) single nucleotide variant not specified [RCV005355063] Chr16:31273423 [GRCh38]
Chr16:31284744 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.526G>A (p.Val176Met) single nucleotide variant not provided [RCV005102645]|not specified [RCV004327390] Chr16:31271052 [GRCh38]
Chr16:31282373 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_000632.4(ITGAM):c.2498C>T (p.Thr833Met) single nucleotide variant not specified [RCV004342951] Chr16:31325397 [GRCh38]
Chr16:31336718 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.2625A>G (p.Ser875=) single nucleotide variant not provided [RCV003411337] Chr16:31325619 [GRCh38]
Chr16:31336940 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2869-8C>T single nucleotide variant not provided [RCV003411338] Chr16:31329790 [GRCh38]
Chr16:31341111 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2982C>T (p.Leu994=) single nucleotide variant not provided [RCV003411339] Chr16:31330086 [GRCh38]
Chr16:31341407 [GRCh37]
Chr16:16p11.2
likely benign
NM_000632.4(ITGAM):c.2987G>A (p.Ser996Asn) single nucleotide variant not provided [RCV003834789] Chr16:31330091 [GRCh38]
Chr16:31341412 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1174A>G (p.Met392Val) single nucleotide variant not specified [RCV004405734] Chr16:31277010 [GRCh38]
Chr16:31288331 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1367A>G (p.Tyr456Cys) single nucleotide variant not specified [RCV004405735] Chr16:31297524 [GRCh38]
Chr16:31308845 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.1417G>A (p.Asp473Asn) single nucleotide variant not specified [RCV004405736] Chr16:31297574 [GRCh38]
Chr16:31308895 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_000632.4(ITGAM):c.454_455delinsAT (p.Ala152Ile) indel not provided [RCV005125735] Chr16:31270980..31270981 [GRCh38]
Chr16:31282301..31282302 [GRCh37]
Chr16:16p11.2
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2449
Count of miRNA genes:1005
Interacting mature miRNAs:1203
Transcripts:ENST00000287497, ENST00000544665, ENST00000561838, ENST00000565142, ENST00000567031, ENST00000567178, ENST00000569746, ENST00000570242
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
597190555GWAS1286629_Hsystemic lupus erythematosus QTL GWAS1286629 (human)8e-72systemic lupus erythematosus163130193231301933Human
597115154GWAS1211228_Hsystemic lupus erythematosus QTL GWAS1211228 (human)9e-85systemic lupus erythematosus163126103231261033Human
406909253GWAS558229_Hsystemic lupus erythematosus QTL GWAS558229 (human)0.000007systemic lupus erythematosus163128761831287619Human
597592024GWAS1648884_Hcutaneous lupus erythematosus QTL GWAS1648884 (human)2e-13cutaneous lupus erythematosus163126103231261033Human
406910790GWAS559766_Hsystemic lupus erythematosus QTL GWAS559766 (human)2e-23systemic lupus erythematosus163130193231301933Human
597592018GWAS1648878_Hautoimmune disorder of musculoskeletal system QTL GWAS1648878 (human)8e-16autoimmune disorder of musculoskeletal system163126103231261033Human
597159771GWAS1255845_Hlipid measurement QTL GWAS1255845 (human)0.000008lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)163127807531278076Human
597073754GWAS1169828_Hsystemic lupus erythematosus QTL GWAS1169828 (human)2e-20systemic lupus erythematosus163131538531315386Human
597592019GWAS1648879_Hautoimmune disorder of musculoskeletal system QTL GWAS1648879 (human)1e-11autoimmune disorder of musculoskeletal system163126103231261033Human
597112282GWAS1208356_Hsystemic lupus erythematosus QTL GWAS1208356 (human)6e-08systemic lupus erythematosus163126549031265491Human
597613521GWAS1670381_Hautoimmune disorder of musculoskeletal system QTL GWAS1670381 (human)8e-36autoimmune disorder of musculoskeletal system163126103231261033Human
406909781GWAS558757_Hsystemic scleroderma, systemic lupus erythematosus QTL GWAS558757 (human)1e-10systemic scleroderma, systemic lupus erythematosus163131538531315386Human
597038915GWAS1134989_Hapolipoprotein A 1 measurement QTL GWAS1134989 (human)2e-09apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)163132063731320638Human
597117903GWAS1213977_Hsystemic lupus erythematosus QTL GWAS1213977 (human)3e-62systemic lupus erythematosus163126549031265491Human
597149195GWAS1245269_Hbody mass index QTL GWAS1245269 (human)4e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)163129606331296064Human
597613564GWAS1670424_Hcutaneous lupus erythematosus QTL GWAS1670424 (human)9e-37cutaneous lupus erythematosus163126103231261033Human
597062197GWAS1158271_Hsystemic lupus erythematosus QTL GWAS1158271 (human)3e-76systemic lupus erythematosus163126103231261033Human
597338942GWAS1435016_Hhearing loss QTL GWAS1435016 (human)1e-08hearing physiology trait (VT:0002104)163126220931262210Human
597113072GWAS1209146_Hsystemic lupus erythematosus QTL GWAS1209146 (human)2e-13systemic lupus erythematosus163126549031265491Human
406901544GWAS550520_Hsystemic lupus erythematosus QTL GWAS550520 (human)0.000002systemic lupus erythematosus163132291531322916Human
406909228GWAS558204_Hsystemic lupus erythematosus QTL GWAS558204 (human)5e-48systemic lupus erythematosus163126549031265491Human
597019512GWAS1115586_Hsystemic lupus erythematosus QTL GWAS1115586 (human)3e-21systemic lupus erythematosus163126549031265491Human
597062395GWAS1158469_Hsystemic lupus erythematosus QTL GWAS1158469 (human)4e-53systemic lupus erythematosus163127200231272003Human
406910513GWAS559489_Hsystemic lupus erythematosus QTL GWAS559489 (human)1e-15systemic lupus erythematosus163130193231301933Human
597238701GWAS1334775_Hsystemic lupus erythematosus QTL GWAS1334775 (human)9e-09systemic lupus erythematosus163131538531315386Human
597272416GWAS1368490_Hhigh density lipoprotein cholesterol measurement QTL GWAS1368490 (human)4e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)163132635631326357Human
597113069GWAS1209143_Hsystemic lupus erythematosus QTL GWAS1209143 (human)7e-22systemic lupus erythematosus163127267531272676Human
597613729GWAS1670589_Hsystemic lupus erythematosus QTL GWAS1670589 (human)1e-19systemic lupus erythematosus163126103231261033Human
406910015GWAS558991_Hsystemic lupus erythematosus QTL GWAS558991 (human)4e-11systemic lupus erythematosus163130193231301933Human

Markers in Region
D16S753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,273,504 - 31,273,772UniSTSGRCh37
Build 361631,181,005 - 31,181,273RGDNCBI36
Celera1629,024,285 - 29,024,549RGD
Cytogenetic Map16q21UniSTS
Cytogenetic Map16p11.2UniSTS
HuRef1628,834,287 - 28,834,547UniSTS
Marshfield Genetic Map1657.79UniSTS
Marshfield Genetic Map1657.79RGD
deCODE Assembly Map1656.8UniSTS
RH79892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,343,075 - 31,343,269UniSTSGRCh37
Build 361631,250,576 - 31,250,770RGDNCBI36
Celera1628,954,813 - 28,955,007RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,903,566 - 28,903,760UniSTS
GDB:180920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,343,042 - 31,343,440UniSTSGRCh37
Build 361631,250,543 - 31,250,941RGDNCBI36
Celera1628,954,642 - 28,955,040RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,903,533 - 28,903,931UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2394 2788 2242 4896 1718 2276 6 621 1908 461 2233 7231 6438 37 3681 1 846 1718 1544 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA436312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM194233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC458577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M18044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000544665   ⟹   ENSP00000441691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,259,975 - 31,332,877 (+)Ensembl
Ensembl Acc Id: ENST00000561838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,324,678 - 31,326,968 (+)Ensembl
Ensembl Acc Id: ENST00000565142   ⟹   ENSP00000461850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,330,380 - 31,331,536 (+)Ensembl
Ensembl Acc Id: ENST00000567031   ⟹   ENSP00000454568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,275,592 - 31,324,439 (+)Ensembl
Ensembl Acc Id: ENST00000567178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,328,037 - 31,329,905 (+)Ensembl
Ensembl Acc Id: ENST00000569746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,329,002 - 31,330,052 (+)Ensembl
Ensembl Acc Id: ENST00000570242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,271,885 - 31,273,684 (+)Ensembl
Ensembl Acc Id: ENST00000648685   ⟹   ENSP00000496959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,259,967 - 31,332,892 (+)Ensembl
RefSeq Acc Id: NM_000632   ⟹   NP_000623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,332,877 (+)NCBI
GRCh371631,271,288 - 31,344,213 (+)ENTREZGENE
Build 361631,178,789 - 31,251,714 (+)NCBI Archive
HuRef1628,832,071 - 28,904,704 (+)ENTREZGENE
CHM1_11632,589,199 - 32,661,884 (+)NCBI
T2T-CHM13v2.01631,647,380 - 31,720,298 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145808   ⟹   NP_001139280
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,332,877 (+)NCBI
GRCh371631,271,288 - 31,344,213 (+)ENTREZGENE
HuRef1628,832,071 - 28,904,704 (+)ENTREZGENE
CHM1_11632,589,199 - 32,661,884 (+)NCBI
T2T-CHM13v2.01631,647,380 - 31,720,298 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721045   ⟹   XP_006721108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,321,375 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545850   ⟹   XP_011544152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,265,396 - 31,332,877 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545851   ⟹   XP_011544153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,324,476 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023216   ⟹   XP_016878705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,328,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054380269   ⟹   XP_054236244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,652,793 - 31,720,298 (+)NCBI
RefSeq Acc Id: XM_054380270   ⟹   XP_054236245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,647,380 - 31,715,635 (+)NCBI
RefSeq Acc Id: XM_054380271   ⟹   XP_054236246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,647,380 - 31,711,897 (+)NCBI
RefSeq Acc Id: XM_054380272   ⟹   XP_054236247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,647,380 - 31,708,796 (+)NCBI
RefSeq Acc Id: XR_007064878
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,332,869 (+)NCBI
RefSeq Acc Id: XR_008489087
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,647,380 - 31,720,290 (+)NCBI
RefSeq Acc Id: XR_008489088
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,647,380 - 31,720,290 (+)NCBI
RefSeq Acc Id: XR_950796
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,332,869 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000623 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139280 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721108 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544152 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544153 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878705 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236247 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51960 (Get FASTA)   NCBI Sequence Viewer  
  AAA58410 (Get FASTA)   NCBI Sequence Viewer  
  AAA59491 (Get FASTA)   NCBI Sequence Viewer  
  AAA59544 (Get FASTA)   NCBI Sequence Viewer  
  AAA59903 (Get FASTA)   NCBI Sequence Viewer  
  AAB24821 (Get FASTA)   NCBI Sequence Viewer  
  AAH96346 (Get FASTA)   NCBI Sequence Viewer  
  AAH96347 (Get FASTA)   NCBI Sequence Viewer  
  AAH96348 (Get FASTA)   NCBI Sequence Viewer  
  AAH99660 (Get FASTA)   NCBI Sequence Viewer  
  BAG54538 (Get FASTA)   NCBI Sequence Viewer  
  BBI36805 (Get FASTA)   NCBI Sequence Viewer  
  BBI36806 (Get FASTA)   NCBI Sequence Viewer  
  BBI36807 (Get FASTA)   NCBI Sequence Viewer  
  BBI36808 (Get FASTA)   NCBI Sequence Viewer  
  BBI36809 (Get FASTA)   NCBI Sequence Viewer  
  BBI36810 (Get FASTA)   NCBI Sequence Viewer  
  BBI36811 (Get FASTA)   NCBI Sequence Viewer  
  BBI36812 (Get FASTA)   NCBI Sequence Viewer  
  BBI36813 (Get FASTA)   NCBI Sequence Viewer  
  BBI36814 (Get FASTA)   NCBI Sequence Viewer  
  BBI36815 (Get FASTA)   NCBI Sequence Viewer  
  BBI36816 (Get FASTA)   NCBI Sequence Viewer  
  BBI36817 (Get FASTA)   NCBI Sequence Viewer  
  BBI36818 (Get FASTA)   NCBI Sequence Viewer  
  BBI36819 (Get FASTA)   NCBI Sequence Viewer  
  BBI36820 (Get FASTA)   NCBI Sequence Viewer  
  BBI36821 (Get FASTA)   NCBI Sequence Viewer  
  BBI36822 (Get FASTA)   NCBI Sequence Viewer  
  BBI36823 (Get FASTA)   NCBI Sequence Viewer  
  BBI36824 (Get FASTA)   NCBI Sequence Viewer  
  BBI36825 (Get FASTA)   NCBI Sequence Viewer  
  BBI36826 (Get FASTA)   NCBI Sequence Viewer  
  BBI36827 (Get FASTA)   NCBI Sequence Viewer  
  BBI36828 (Get FASTA)   NCBI Sequence Viewer  
  BBI36829 (Get FASTA)   NCBI Sequence Viewer  
  BBI36830 (Get FASTA)   NCBI Sequence Viewer  
  BBI36831 (Get FASTA)   NCBI Sequence Viewer  
  CCF76944 (Get FASTA)   NCBI Sequence Viewer  
  EAW52143 (Get FASTA)   NCBI Sequence Viewer  
  EAW52144 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000441691
  ENSP00000441691.3
  ENSP00000496959
  ENSP00000496959.1
GenBank Protein P11215 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001139280   ⟸   NM_001145808
- Peptide Label: isoform 1 precursor
- UniProtKB: P11215 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000623   ⟸   NM_000632
- Peptide Label: isoform 2 precursor
- UniProtKB: Q4VAK1 (UniProtKB/Swiss-Prot),   Q4VAK0 (UniProtKB/Swiss-Prot),   Q4VAK2 (UniProtKB/Swiss-Prot),   P11215 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721108   ⟸   XM_006721045
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011544153   ⟸   XM_011545851
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011544152   ⟸   XM_011545850
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016878705   ⟸   XM_017023216
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000496959   ⟸   ENST00000648685
Ensembl Acc Id: ENSP00000441691   ⟸   ENST00000544665
Ensembl Acc Id: ENSP00000461850   ⟸   ENST00000565142
Ensembl Acc Id: ENSP00000454568   ⟸   ENST00000567031
RefSeq Acc Id: XP_054236245   ⟸   XM_054380270
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236246   ⟸   XM_054380271
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236247   ⟸   XM_054380272
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236244   ⟸   XM_054380269
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11215-F1-model_v2 AlphaFold P11215 1-1152 view protein structure

Promoters
RGD ID:6810954
Promoter ID:HG_ACW:30323
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ITGAM.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,172,441 - 31,172,941 (+)MPROMDB
RGD ID:6793209
Promoter ID:HG_KWN:23620
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_000632,   UC002EBR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,178,521 - 31,179,021 (+)MPROMDB
RGD ID:7232091
Promoter ID:EPDNEW_H21791
Type:initiation region
Name:ITGAM_1
Description:integrin subunit alpha M
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,259,975 - 31,260,035EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6149 AgrOrtholog
COSMIC ITGAM COSMIC
Ensembl Genes ENSG00000169896 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000544665 ENTREZGENE
  ENST00000544665.9 UniProtKB/Swiss-Prot
  ENST00000648685 ENTREZGENE
  ENST00000648685.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot
  Bicelle-embedded integrin alpha(iib) transmembrane segment UniProtKB/Swiss-Prot
  Integrin domains. Chain A, domain 2 UniProtKB/Swiss-Prot
  ntegrin, alpha v. Chain A, domain 3 UniProtKB/Swiss-Prot
  ntegrin, alpha v. Chain A, domain 4 UniProtKB/Swiss-Prot
GTEx ENSG00000169896 GTEx
HGNC ID HGNC:6149 ENTREZGENE
Human Proteome Map ITGAM Human Proteome Map
InterPro FG-GAP UniProtKB/Swiss-Prot
  Int_alpha_beta-p UniProtKB/Swiss-Prot
  Integrin_alpha UniProtKB/Swiss-Prot
  Integrin_alpha-2 UniProtKB/Swiss-Prot
  Integrin_alpha_C_CS UniProtKB/Swiss-Prot
  Integrin_alpha_Ig-like_2 UniProtKB/Swiss-Prot
  Integrin_alpha_N UniProtKB/Swiss-Prot
  Integrin_dom_sf UniProtKB/Swiss-Prot
  ITGAX-like_Ig_3 UniProtKB/Swiss-Prot
  VWF_A UniProtKB/Swiss-Prot
  vWFA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3684 UniProtKB/Swiss-Prot
NCBI Gene 3684 ENTREZGENE
OMIM 120980 OMIM
PANTHER INTEGRIN ALPHA UniProtKB/Swiss-Prot
  INTEGRIN ALPHA-M UniProtKB/Swiss-Prot
Pfam FG-GAP UniProtKB/Swiss-Prot
  Integrin_A_Ig_2 UniProtKB/Swiss-Prot
  Integrin_alpha UniProtKB/Swiss-Prot
  Integrin_alpha2 UniProtKB/Swiss-Prot
  ITGAX-like_Ig_3 UniProtKB/Swiss-Prot
  VWA UniProtKB/Swiss-Prot
PharmGKB PA29949 PharmGKB
PRINTS INTEGRINA UniProtKB/Swiss-Prot
  VWFADOMAIN UniProtKB/Swiss-Prot
PROSITE FG_GAP UniProtKB/Swiss-Prot
  INTEGRIN_ALPHA UniProtKB/Swiss-Prot
  VWFA UniProtKB/Swiss-Prot
SMART Int_alpha UniProtKB/Swiss-Prot
  VWA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot
  SSF69179 UniProtKB/Swiss-Prot
  SSF69318 UniProtKB/Swiss-Prot
UniProt A0A3T1DF60_HUMAN UniProtKB/TrEMBL
  A0A3T1DFB0_HUMAN UniProtKB/TrEMBL
  H3BMV4_HUMAN UniProtKB/TrEMBL
  I3NI33_HUMAN UniProtKB/TrEMBL
  ITAM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4VAK0 ENTREZGENE
  Q4VAK1 ENTREZGENE
  Q4VAK2 ENTREZGENE
UniProt Secondary Q4VAK0 UniProtKB/Swiss-Prot
  Q4VAK1 UniProtKB/Swiss-Prot
  Q4VAK2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGAM  integrin subunit alpha M  ITGAM  integrin, alpha M (complement component 3 receptor 3 subunit)  Symbol and/or name change 5135510 APPROVED