AT
MCID: ATX030
MIFTS: 77

Ataxia-Telangiectasia (AT) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Blood diseases, Immune diseases, Ear diseases

Aliases & Classifications for Ataxia-Telangiectasia

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Aliases & Descriptions for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 52 23 24 25 54 70 12 35
Ataxia Telangiectasia 35 11 71 48 24 49 70 50 38 39 13 68
Louis-Bar Syndrome 48 24 25 54 70
Ataxia-Telangiectasia Variant 54 27 68
a-T 24 25
at 48 70
Immunodeficiency with Ataxia Telangiectasia 48
Telangiectasia, Cerebello-Oculocutaneous 25
 
Cerebello-Oculocutaneous Telangiectasia 48
Ataxia Telangiectasia Syndrome 25
Boder-Sedgwick Syndrome 11
Louis Bar Syndrome 11
V-at 54
Atm 25
At1 70

Characteristics:

Orphanet epidemiological data:

54
ataxia-telangiectasia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult

HPO:

64
ataxia-telangiectasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 208900
Disease Ontology11 DOID:12704
MeSH39 D001260
NCIt45 C2887
SNOMED-CT62 68504005
MESH via Orphanet40 D001260
UMLS via Orphanet69 C0004135
ICD10 via Orphanet31 G11.3

Summaries for Ataxia-Telangiectasia

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NINDS:49 Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays.  Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

MalaCards based summary: Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder and nijmegen breakage syndrome, and has symptoms including back pain, back pain and cerebellar ataxia. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways are PLK3 signaling events and Regulation of TP53 Expression and Degradation. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are Increased viability with nutlin-3 and Decreased viability after ionizing radiation.

Genetics Home Reference:25 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.

NIH Rare Diseases:48 Ataxia telangiectasia (a-t) is rare condition that affects the nervous system, the immune system, and many other parts of the body. signs and symptoms of the condition usually begin in early childhood, often before age 5. the condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. a-t is caused by changes (mutations) in the atm gene and is inherited in an autosomal recessive manner. treatment is supportive and based on the signs and symptoms present in each person. last updated: 4/5/2016

OMIM:52 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases,... (208900) more...

MedlinePlus:38 Ataxia-telangiectasia (a-t) is a rare, inherited disease. it affects the nervous system, immune system, and other body systems. symptoms appear in young children, usually before age 5. they include ataxia - trouble coordinating movements poor balance slurred speech tiny, red spider veins, called telangiectasias, on the skin and eyes lung infections delayed physical and sexual development people with a-t have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. although it affects the brain, people with a-t usually have normal or high intelligence. a-t has no cure. treatments might improve some symptoms. they include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. nih: national institute of neurological disorders and stroke

UniProtKB/Swiss-Prot:70 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

Wikipedia:71 Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar... more...

GeneReviews for NBK26468

Related Diseases for Ataxia-Telangiectasia

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Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder

Diseases related to Ataxia-Telangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia-telangiectasia-like disorder12.6
2nijmegen breakage syndrome12.0
3cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk11.8
4pulmonary fungal infections in patients deemed at risk11.8
5poliomyelitis in patients with immunodeficiencies deemed at risk11.8
6arterial tortuosity syndrome11.6
7atypical teratoid rhabdoid tumor11.3
8ocular motor apraxia11.3
9thrombophilia due to antithrombin iii deficiency11.3
10ataxia11.2
11ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia11.0
12pancreatic cancer10.9
13cerebellar hypoplasia10.9
14breast cancer10.5
15leukemia10.5
16lymphoma10.4
17lung cancer10.3
18lymphoproliferative syndrome, ebv-associated, autosomal, 110.2CHEK2, TP53
19lymphoblastic leukemia10.2
20dandy-walker syndrome10.2ATM, ATR
21hodgkin lymphoma10.2
22bronchogenic cyst10.2ATM, BRCA1, CHEK2
23lethal congenital contracture syndrome 710.2BRCA1, NBN
24villoglandular endometrial endometrioid adenocarcinoma10.2ATM, BRCA1, TP53
25intraorbital meningioma10.2ATM, BRCA1, TP53
26neuronitis10.2
27polyembryoma of the ovary10.2ATM, BRCA1, CHEK2
28bloom syndrome10.1
29gastric cancer10.1
30dystonia10.1
31bronchiectasis oligospermia10.1ATM, BRCA1, CHEK2, NBN
32bone marrow failure syndrome 210.1ATM, ATR, RPA2, TP53
33pituitary stalk meningioma10.1ATM, BRCA1, CHEK2, TP53
34b-cell lymphomas10.1
35chronic lymphocytic leukemia10.1
36hepatitis10.1
37squamous cell carcinoma10.1
38adenocarcinoma10.1
39cerebritis10.1
40thyroiditis10.1
41glioma10.1
42progesterone resistance10.1ATM, CHEK2, MRE11, NBN, RAD50
43werner syndrome10.0
44diffuse large b-cell lymphoma10.0
45hemolytic anemia10.0
46apraxia10.0
47agammaglobulinemia10.0
48lung disease10.0
49herpes simplex10.0
50lujan-fryns syndrome10.0DCLRE1C, PRKDC

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia:



Diseases related to ataxia-telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

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Symptoms by clinical synopsis from OMIM:

208900

Clinical features from OMIM:

208900

Human phenotypes related to Ataxia-Telangiectasia:

 54 64 (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the testis64 54 Occasional (29-5%) HP:0000035
2 polycystic ovaries64 54 Very frequent (99-80%) HP:0000147
3 strabismus64 54 Very frequent (99-80%) HP:0000486
4 abnormality of eye movement54 Very frequent (99-80%)
5 nystagmus64 54 Very frequent (99-80%) HP:0000639
6 diabetes mellitus64 54 Frequent (79-30%) HP:0000819
7 delayed puberty64 54 Very frequent (99-80%) HP:0000823
8 seizures64 54 Frequent (79-30%) HP:0001250
9 ataxia64 54 Very frequent (99-80%) HP:0001251
10 spasticity64 54 Frequent (79-30%) HP:0001257
11 dysarthria64 54 Frequent (79-30%) HP:0001260
12 gait disturbance64 54 Very frequent (99-80%) HP:0001288
13 tremor64 54 Very frequent (99-80%) HP:0001337
14 failure to thrive64 54 Occasional (29-5%) HP:0001508
15 lymphopenia64 54 Very frequent (99-80%) HP:0001888
16 neurological speech impairment54 Very frequent (99-80%)
17 recurrent respiratory infections64 54 Very frequent (99-80%) HP:0002205
18 premature graying of hair64 54 Very frequent (99-80%) HP:0002216
19 neoplasm64 54 Frequent (79-30%) HP:0002664
20 abnormality of the immune system54 Very frequent (99-80%)
21 immunodeficiency54 Very frequent (99-80%)
22 elevated hepatic transaminases64 54 Very frequent (99-80%) HP:0002910
23 skeletal muscle atrophy64 54 Frequent (79-30%) HP:0003202
24 abnormality of chromosome stability64 54 Very frequent (99-80%) HP:0003220
25 decreased antibody level in blood64 54 Very frequent (99-80%) HP:0004313
26 short stature64 54 Frequent (79-30%) HP:0004322
27 cellular immunodeficiency64 54 Very frequent (99-80%) HP:0005374
28 hypopigmentation of hair64 54 Frequent (79-30%) HP:0005599
29 type ii diabetes mellitus64 54 Occasional (29-5%) HP:0005978
30 prematurely aged appearance54 Very frequent (99-80%)
31 multiple cafe-au-lait spots64 54 Occasional (29-5%) HP:0007565
32 aplasia/hypoplasia of the skin64 54 Occasional (29-5%) HP:0008065
33 aplasia/hypoplasia of the thymus64 54 Very frequent (99-80%) HP:0010515
34 abnormality of movement54 Very frequent (99-80%)
35 cognitive impairment64 54 Occasional (29-5%) HP:0100543
36 mucosal telangiectasiae64 54 Very frequent (99-80%) HP:0100579
37 teleangiectasia of the skin54 Very frequent (99-80%)
38 female hypogonadism64 HP:0000134
39 sinusitis64 HP:0000246
40 conjunctival telangiectasia64 HP:0000524
41 hypoplasia of the thymus64 HP:0000778
42 glucose intolerance64 HP:0000833
43 cafe-au-lait spot64 HP:0000957
44 choreoathetosis64 HP:0001266
45 reduced tendon reflexes64 HP:0001315
46 dystonia64 HP:0001332
47 myoclonus64 HP:0001336
48 abnormality of the hair64 HP:0001595
49 leukemia64 HP:0001909
50 bronchiectasis64 HP:0002110
51 iga deficiency64 HP:0002720
52 recurrent bronchitis64 HP:0002837
53 defective b cell differentiation64 HP:0005357
54 decreased number of cd4+ t cells64 HP:0005407
55 elevated alpha-fetoprotein64 HP:0006254
56 immunoglobulin igg2 deficiency64 HP:0008348
57 abnormal spermatogenesis64 HP:0008669
58 hodgkin lymphoma64 HP:0012189
59 non-hodgkin lymphoma64 HP:0012539
60 telangiectasia of the skin64 HP:0100585

UMLS symptoms related to Ataxia-Telangiectasia:


back pain, cerebellar ataxia, headache, myoclonus, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, cerebellar ataxia/dyskinesia

GenomeRNAi Phenotypes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

26
(show all 12)
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00123-A10.8TP53, TP53BP1
2GR00232-A-210.4ATM, BRCA1, PRKDC
3GR00114-A10.3ATM, ATR, CHEK1
4GR00156-A10.1ATR, CHEK1, CHEK2
5GR00107-A-29.9ATM, ATR, CHEK1, PRKDC
6GR00248-A9.7ATM, ATR, CHEK1, CHEK2, PRKDC
7GR00101-A-19.6ATR, BRCA1, CHEK1, DCLRE1C
8GR00381-A-19.3ATM, BRCA1, CHEK1, CHEK2, RPA2
9GR00366-A-1928.6ATM, ATR, CHEK1, CHEK2, DCLRE1C, PRKDC
10GR00366-A-848.5CDKN1A, CHEK1, CHEK2, RAD17
11GR00250-A-34.8APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1
12GR00250-A-11.3ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2

MGI Mouse Phenotypes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

41 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7ATR, BRCA1, PRKDC, RAD50, TP53
2MP:00053758.9ATM, ATR, BRCA1, CDKN1A, PRKDC, TP53
3MP:00107717.7ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
4MP:00053807.3ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
5MP:00036317.2ATM, ATR, BRCA1, CDKN1A, CHEK2, GADD45A
6MP:00053786.8ATM, ATR, BRCA1, CDKN1A, GADD45A, H2AFX
7MP:00053856.8ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
8MP:00053766.5APTX, ATM, ATR, BRCA1, CDKN1A, CHEK2
9MP:00053896.4ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
10MP:00020066.2ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
11MP:00053876.2ATM, ATR, BRCA1, CDKN1A, CHEK2, DCLRE1C
12MP:00053976.1ATM, ATR, BRCA1, CDKN1A, CHEK2, DCLRE1C
13MP:00053795.8ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
14MP:00053845.3APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1
15MP:00107685.3ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2

Drugs & Therapeutics for Ataxia-Telangiectasia

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Drugs for Ataxia-Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 100)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigational, vet_approvedPhase 4131850-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
2
ClonidineapprovedPhase 42404205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
3
AmantadineapprovedPhase 467768-94-52130
Synonyms:
1-Adamantamine
1-Adamantanamine
1-Adamantanamine (8CI)
1-Adamantylamine
1-Aminoadamantane
1-Aminotricyclo(3.3.1.1(sup 3,7))decane
1-adamantanamine
1-adamantylamine
1-aminoadamantane
138576_ALDRICH
665-66-7 (hydrochloride)
768-94-5
AB00514655
AC-11992
AC1L1CZI
AC1Q4UAF
AC1Q5396
ADAMANTANE,1-AMINO
AKOS000113994
AKOS000119324
Adamantamine
Adamantanamine
Adamantylamine
Amant
Amantadina
Amantadina [INN-Spanish]
Amantadine
Amantadine (INN)
Amantadine Base
Amantadine HCL
Amantadine Hydrochloride
Amantadine [INN:BAN]
Amantadinum
Amantadinum [INN-Latin]
Amantidine
Ambap768-94-5
Aminoadamantane
BIA4304
BIDD:GT0757
BPBio1_000368
BRN 2204333
BSPBio_000334
BSPBio_001570
BSPBio_001822
Bio-0821
C06818
C10H17N
CHEBI:2618
CHEMBL660
CID2130
D07441
DB00915
DivK1c_000815
EINECS 212-201-2
Endantadine
Gen-Amantadine
HMS1791O12
HMS1989O12
HSDB 3202
I14-1101
IDI1_000815
InChI=1/C10H17N/c11-10-4-7-1-8(5-10)3-9(2-7)6-10/h7-9H,1-6,11H
KBio1_000815
KBio2_000390
 
KBio2_002958
KBio2_005526
KBio3_001322
KBioGR_000548
KBioSS_000390
L000868
LS-157049
Lopac-A-1260
Lopac0_000004
Mantadine
MolPort-001-661-700
MolPort-001-760-587
MolPort-001-791-102
NCGC00015036-01
NCGC00015036-07
NCGC00162039-01
NCGC00162039-02
NCGC00162039-03
NCGC00162039-04
NCGC00179597-01
NCIOpen2_001059
NINDS_000815
NSC 341865
NSC341865
NSC83653
OR14310
Oprea1_248648
Pk-Merz
Pk-merz
Prestwick0_000407
Prestwick1_000407
Prestwick2_000407
Prestwick3_000407
SPBio_000002
SPBio_002273
STK298781
Spectrum2_000081
Spectrum3_000291
Spectrum4_000134
Spectrum5_000772
Spectrum_000030
Symadine
Symmetrel
TCMDC-125869
TL8005280
Tricyclo(3.3.1.1(3,7))-decan-1-amine
Tricyclo(3.3.1.1(sup 3,7))decan-1-amine
Tricyclo(3.3.1.1(sup 3.7))decan-1-amine
Tricyclo(3.3.1.13,7)decan-1-amine
Tricyclo[3.3.1.1(3,7)]decan-1-amine
Tricyclo[3.3.1.1(3,7)]decan-1-ylamine
Tricyclo[3.3.1.1(3,7)]decane-1-amine
Tricyclo[3.3.1.1(sup3,7)]decan-1-amine
Tricyclo[3.3.1.1^3,7]decan-1-amine
UNII-BF4C9Z1J53
Viregyt
Virosol
WLN: L66 B6 A B- C 1B ITJ BZ
Wiregyt
adamantan-1-amine
adamantan-1-ylamine
amantadine
amantadine hydrochloride
tricyclo[3.3.1.1(3,7)]decan-1-ylamine
tricyclo[3.3.1.1(3,7)]decane-1-amine
tricyclo[3.3.1.1~3,7~]decan-1-amine
4
DopamineapprovedPhase 4383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
5
Pioglitazoneapproved, investigationalPhase 4441111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
6
MetforminapprovedPhase 41803657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
7Insulin, Globin ZincPhase 44645
8insulinPhase 44646
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 313168
10Neurotransmitter AgentsPhase 418340
11SympatholyticsPhase 4580
12Polyestradiol phosphatePhase 41318
13Peripheral Nervous System AgentsPhase 4, Phase 323689
14HormonesPhase 4, Phase 314415
15MitogensPhase 41617
16EstrogensPhase 42542
17AnalgesicsPhase 411733
18Antihypertensive AgentsPhase 44207
19Adrenergic alpha-AgonistsPhase 41734
20Adrenergic alpha-2 Receptor AgonistsPhase 4980
21Adrenergic AgonistsPhase 43027
22Hormone AntagonistsPhase 4, Phase 313180
23Adrenergic AgentsPhase 45352
24Estradiol valeratePhase 41318979-32-8
25Estradiol 3-benzoatePhase 41318
26Estradiol 17 beta-cypionatePhase 41318
27Autonomic AgentsPhase 4, Phase 310150
28Contraceptive AgentsPhase 41967
29Dopamine AgentsPhase 43836
30Anti-Infective AgentsPhase 4, Phase 222062
31Antiviral AgentsPhase 4, Phase 29967
32Antiparkinson AgentsPhase 41574
33Analgesics, Non-NarcoticPhase 46501
34Hypoglycemic AgentsPhase 45896
35arginineNutraceuticalPhase 4425
36
Dexamethasoneapproved, investigational, vet_approvedPhase 3217150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
37Heptavalent Pneumococcal Conjugate VaccinePhase 3465
38VaccinesPhase 36611
39Dexamethasone acetatePhase 321711177-87-3
40Gastrointestinal AgentsPhase 38402
41glucocorticoidsPhase 35103
42Dexamethasone 21-phosphatePhase 32171
43BB 1101Phase 32171
44AntiemeticsPhase 34022
45Anti-Inflammatory AgentsPhase 310729
46Antineoplastic Agents, HormonalPhase 35592
47Pharmaceutical SolutionsPhase 38192
48
protease inhibitorsPhase 35471
Synonyms:
 
protease inhibitors
49HIV Protease InhibitorsPhase 35470
50
CaspofunginapprovedPhase 265179463-17-3, 162808-62-0468682, 2826718
Synonyms:
(4R,5S)-5-((2-Aminoethyl)amino)-N(2)-(10,12-dimethyltetradecanoyl)-4-hydroxy-L-ornithyl-L-threonyl-trans-4-hydroxy-L-prolyl-(S)-4-hydroxy-4-(P-hydroxyphenyl)-L-threonyl-threo-3-hydroxy-L-ornithyl-trans-3-hydroxy-L-proline cyclic (6-1)-peptide
(4R,5S)-5-((2-Aminoethyl)amino)-N(sup 2)-(10,12-dimethyltetradecanoyl)-4-hydroxy-L-ornithyl-L-threonyl-trans-4-hydroxy-L-prolyl-(S)-4-hydroxy-4-(p-hydroxyphenyl)-L-threonyl-threo-3-hydroxy-L-ornithyl-trans-3-hydroxy-L-proline cyclic (6-1)-peptide
(4R,5S)-5-((2-aminoethyl)amino)-N(2)-(10,12-dimethyltetradecanoyl)-4-hydroxy-L-ornithyl-L-threonyl-trans-4-hydroxy-L-prolyl-(S)-4-hydroxy-4-(p-hydroxyphenyl)-L-threonyl-threo-3-hydroxy-L-ornithyl-trans-3-hydroxy-L-proline cyclic (6-1)-peptide
1-[(4R,5S)-5-[(2-Aminoethyl)amino]-N(2)-(10,12-dimethyl-1-oxotetradecyl)-4-hydroxy-L-ornithine]-5-[(3R)-3-hydroxy-L-ornithine]-pneumocandin b0
1-[(4R,5S)-5-[(2-aminoethyl)amino]-N(2)-(10,12-dimethyl-1-oxotetradecyl)-4-hydroxy-L-ornithine]-5-[(3R)-3-hydroxy-L-ornithine]-pneumocandin B0
162808-62-0
AC1L45LR
AC1LAHR5
AC1MCVUN
AR-1K4318
CASPO
CHEBI:474180
CHEMBL374999
CHEMBL499808
CID151068
CID2826718
CID468682
Cancidas
Cancidas (TM)
 
Cancidas (TN)
Capsofungin
Caspofungin
Caspofungin (INN)
Caspofungin [INN]
D07626
DB00520
HSDB 7476
L-743,872
LS-186994
LS-187303
LS-187635
M991
MK-0991
N-{(2R,6S,9S,11R,12S,14aS,15S,20S,23S,25aS)-12-[(2-aminoethyl)amino]-20-[(1R)-3-amino-1-hydroxypropyl]-23-[(1S2S)-1,2-dihydroxy-2-(4-hydroxyphenyl)ethyl]-2,11,15-trihydroxy-6-[(1R)-1-hydroxyethyl]-5,8,14,19,22,25-hexaoxotetracosahydro-1H-dipyrrolo[2,1-c:2',1'-l][1,4,7,10,13,16]hexaazacyclohenicosin-9-yl}-10,12-dimethyltetradecanamide
Pneumocandin B0, 1-[(4R,5S)-5-[(2-aminoethyl)amino]-N2-(10,12-dimethyl-1-oxotetradecyl)-4-hydroxy-L-ornithine]-5-[(3R)-3-hydroxy-L-ornithine]- (9CI)
UNII-F0XDI6ZL63
[1(R)-hydroxyethyl]-1,4,7,13,16,22-hexaazatricyclo[22.3.0.0(9,13)]heptacosane-2,5,8,14,17,23-hexaone diacetate
n-{(2r,6s,9s,11r,12s,14as,15s,20s,23s,25as)-12-[(2-aminoethyl)amino]-20-[(1r)-3-amino-1-hydroxypropyl]-23-[(1s,2s)-1,2-dihydroxy-2-(4-hydroxyphenyl)ethyl]-2,11,15-trihydroxy-6-[(1r)-1-hydroxyethyl]-5,8,14,19,22,25-hexaoxotetracosahydro-1h-dipyrrolo[2,1-c:2',1'-l][1,4,7,10,13,16]hexaazacyclohenicosin-9-yl}-10,12-dimethyltetradecanamide
nchembio.184-comp7

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)Unknown statusNCT01052623Phase 4
2Amantadine for Improving Neurologic Symptoms in Ataxia-TelangiectasiaCompletedNCT00950196Phase 4
3Response of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneRecruitingNCT02733679Phase 4
4Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
5EDS in Ataxia Telangiectasia PatientsRecruitingNCT02770807Phase 3
6Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell TransplantCompletedNCT00110045Phase 2
7Gemcitabine Hydrochloride Alone or With VX-970 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube CancerRecruitingNCT02595892Phase 2
8Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer PatientsActive, not recruitingNCT01063517Phase 2
9A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002)WithdrawnNCT01244009Phase 2
10Study of AZD6738, DNA Damage Repair/Novel Anti-cancer Agent, in Combination With Paclitaxel, in Refractory CancerRecruitingNCT02630199Phase 1
11Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia PatientsUnknown statusNCT01075438
12Susceptibility to Infections in Ataxia TelangiectasiaUnknown statusNCT02345135
13Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-TUnknown statusNCT02285348
14Baclofen Treatment of Ataxia TelangiectasiaUnknown statusNCT00640003Early Phase 1
15The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied LongitudinallyUnknown statusNCT00951886
16Body Composition and Hormonal Status in Ataxia TelangiectasiaCompletedNCT02345200
17Study for Treatment of Cancer in Children With Ataxia-telangiectasiaCompletedNCT00187057
18International Ataxia Rating Scale in Younger PatientsCompletedNCT01942850
19Cell-Based Approaches For Modeling and Treating Ataxia-TelangiectasiaRecruitingNCT02246491
20Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)RecruitingNCT02857894
21Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
22Development of iPS From Donated Somatic Cells of Patients With Neurological DiseasesRecruitingNCT00874783
23The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
24Pancreatic Cancer Screening of High-Risk Individuals in ArkansasActive, not recruitingNCT02309632

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Renexus
Embryonic/Adult Cultured Cells Related to Ataxia-Telangiectasia:
Human retinal stem cells secreting CNTF, PMIDs: 16805711, 17508034, 16505355, 23049090, 15684670, 12581701, 15223826, 18830926


Cochrane evidence based reviews: ataxia telangiectasia

Genetic Tests for Ataxia-Telangiectasia

About this section

Genetic tests related to Ataxia-Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome27
2 Ataxia-Telangiectasia Variant27
3 Ataxia-Telangiectasia24 ATM

Anatomical Context for Ataxia-Telangiectasia

About this section

MalaCards organs/tissues related to Ataxia-Telangiectasia:

36
Eye, Skin, Brain, Lung, Breast, T cells, B cells

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50)    (show all 871)
idTitleAuthorsYear
1
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. (28318010)
2017
2
Assaying Radiosensitivity of Ataxia-Telangiectasia. (28477107)
2017
3
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. (28162005)
2017
4
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). (28131712)
2017
5
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. (28123174)
2017
6
Erratum to: The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. (28081717)
2017
7
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. (28120234)
2017
8
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. (28012542)
2017
9
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. (28477134)
2017
10
Ataxia-telangiectasia: Immunodeficiency and survival. (28126470)
2017
11
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. (28351596)
2017
12
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. (28082406)
2017
13
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. (28487983)
2017
14
A new ataxia-telangiectasia mutation in an 11-year-old female. (28488180)
2017
15
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. (28196983)
2017
16
Multidisciplinary care of children and young people with ataxia-telangiectasia. (28338211)
2017
17
Refractory status dystonicus in ataxia telangiectasia. (28084263)
2017
18
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. (27871447)
2016
19
Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice. (27002302)
2016
20
Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia. (27597554)
2016
21
Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells. (26825989)
2016
22
Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. (27613453)
2016
23
Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants. (27764772)
2016
24
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. (28007901)
2016
25
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. (26891003)
2016
26
Silencing of ataxia-telangiectasia mutated by siRNA enhances the in vitro and in vivo radiosensitivity of glioma. (27108486)
2016
27
Ataxia telangiectasia-mutated kinase deficiency exacerbates left ventricular dysfunction and remodeling late after myocardial infarction. (27288435)
2016
28
Novel ATM mutations with ataxia-telangiectasia. (26628246)
2016
29
Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy. (26882028)
2016
30
Ataxia telangiectasia: a review. (27884168)
2016
31
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. (27664052)
2016
32
Ataxia telangiectasia: a syndrome deserving attention and study. (27265211)
2016
33
Reply to Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab. (26739927)
2016
34
Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation. (27743911)
2016
35
Ataxia telangiectasia associated with nodular regenerative hyperplasia. (27671921)
2016
36
The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. (27538496)
2016
37
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. (27159176)
2016
38
Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer. (27329169)
2016
39
Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance. (26606753)
2016
40
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone. (27933465)
2016
41
Ataxia telangiectasia mutated (ATM), could it be another useful biomarker for the successful treatment with the poly (ADP-ribose) polymerase inhibitor? (28138571)
2016
42
Single Nucleotide Polymorphism rs1801516 in Ataxia Telangiectasia-Mutated Gene Predicts Late Fibrosis in Cancer Patients After Radiotherapy: A PRISMA-Compliant Systematic Review and Meta-Analysis. (27057881)
2016
43
Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated. (28260489)
2016
44
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. (27214374)
2016
45
Growth and nutrition in children with ataxia telangiectasia. (27573920)
2016
46
Treatment of acute leukemia in children with ataxia telangiectasia (A-T). (27238889)
2016
47
Serum Interleukin-6 Levels and Pulmonary Function inA Ataxia-Telangiectasia. (26851119)
2016
48
Ataxia telangiectasia: presentation and diagnostic delay. (27799156)
2016
49
Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells. (27596957)
2016
50
Does Ataxia Telangiectasia Mutated (ATM) protect testicular and germ cell DNA integrity by regulating the redox status? (27318254)
2016

Variations for Ataxia-Telangiectasia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia:

70 (show all 46)
id Symbol AA change Variation ID SNP ID
1ATMp.Lys224GluVAR_010801rs145053092
2ATMp.Pro292LeuVAR_010802rs747727055
3ATMp.Ile323ValVAR_010803rs587781511
4ATMp.Phe570SerVAR_010808rs777301065
5ATMp.Asn768AspVAR_010812
6ATMp.Arg785CysVAR_010813rs587778065
7ATMp.Leu950ArgVAR_010815rs786203054
8ATMp.Leu1001GlnVAR_010816
9ATMp.His1082LeuVAR_010819
10ATMp.Glu1091AspVAR_010820
11ATMp.Leu1420ProVAR_010823
12ATMp.Leu1465ProVAR_010826rs730881391
13ATMp.Pro1566ArgVAR_010827
14ATMp.Thr1743IleVAR_010831rs587779844
15ATMp.Val1913GlyVAR_010836
16ATMp.Asp2016GlyVAR_010838rs587781302
17ATMp.Gly2063GluVAR_010839rs866290641
18ATMp.Ala2067AspVAR_010840rs397514577
19ATMp.Ser2218CysVAR_010844
20ATMp.Arg2227CysVAR_010846rs564652222
21ATMp.Val2424GlyVAR_010854rs28904921
22ATMp.Tyr2470AspVAR_010858
23ATMp.Trp2491ArgVAR_010860
24ATMp.His2554AspVAR_010862
25ATMp.Asp2625GlnVAR_010863
26ATMp.Leu2656ProVAR_010865rs121434218
27ATMp.Glu2668GlyVAR_010868
28ATMp.Ile2702ArgVAR_010870
29ATMp.Ala2726ValVAR_010874
30ATMp.Cys2824TyrVAR_010878
31ATMp.Phe2827CysVAR_010879rs121434216
32ATMp.Pro2829LeuVAR_010880
33ATMp.Arg2832CysVAR_010881rs587779872
34ATMp.Arg2849ProVAR_010882
35ATMp.Ser2855ArgVAR_010883rs780905851
36ATMp.Gly2867ArgVAR_010886
37ATMp.Glu2904GlyVAR_010889rs786202826
38ATMp.Arg2909GlyVAR_010890
39ATMp.Arg3008CysVAR_010893rs587782292
40ATMp.Leu1046ProVAR_077237rs568461905
41ATMp.Gly2023ArgVAR_077238rs11212587
42ATMp.Leu2068SerVAR_077239
43ATMp.Tyr2080AspVAR_077240
44ATMp.Tyr2627HisVAR_077241
45ATMp.Phe2834LeuVAR_077242
46ATMp.Asn3003AspVAR_077243rs1137889

Clinvar genetic disease variations for Ataxia-Telangiectasia:

5 (show all 352)
id Gene Variation Type Significance SNP ID Assembly Location
1ATMNM_ 000051.3(ATM): c.1339C> T (p.Arg447Ter)SNVPathogenic/ Likely pathogenicrs587779815GRCh38Chr 11, 108250804: 108250804
2ATMNM_ 000051.3(ATM): c.1564_ 1565delGA (p.Glu522Ilefs)deletionPathogenicrs587779817GRCh38Chr 11, 108251029: 108251030
3ATMNM_ 000051.3(ATM): c.170G> A (p.Trp57Ter)SNVPathogenicrs587779818GRCh38Chr 11, 108227873: 108227873
4ATMNM_ 000051.3(ATM): c.2502dupA (p.Val835Serfs)duplicationPathogenicrs587779822GRCh38Chr 11, 108267206: 108267206
5ATMNM_ 000051.3(ATM): c.2638+2T> CSNVPathogenic/ Likely pathogenicrs587779826GRCh38Chr 11, 108267344: 108267344
6ATMNM_ 000051.3(ATM): c.3372C> G (p.Tyr1124Ter)SNVPathogenic/ Likely pathogenicrs587779833GRCh38Chr 11, 108279578: 108279578
7ATMNM_ 000051.3(ATM): c.3802delG (p.Val1268Terfs)deletionPathogenicrs587779834GRCh38Chr 11, 108284282: 108284282
8ATMNM_ 000051.3(ATM): c.5290delC (p.Leu1764Tyrfs)deletionPathogenic/ Likely pathogenicrs587779846GRCh38Chr 11, 108301760: 108301760
9ATMNM_ 000051.3(ATM): c.5791delGinsCCT (p.Ala1931Profs)indelPathogenic/ Likely pathogenicrs587779851GRCh38Chr 11, 108310188: 108310188
10ATMNM_ 000051.3(ATM): c.5932G> T (p.Glu1978Ter)SNVPathogenicrs587779852GRCh38Chr 11, 108312424: 108312424
11ATMNM_ 000051.3(ATM): c.6100C> T (p.Arg2034Ter)SNVPathogenic/ Likely pathogenicrs532480170GRCh38Chr 11, 108316015: 108316015
12ATMNM_ 000051.3(ATM): c.6572+1G> ASNVPathogenic/ Likely pathogenicrs587779856GRCh38Chr 11, 108321421: 108321421
13ATMNM_ 000051.3(ATM): c.6976-10_ 6989delTCTTATACAGAACAATCCCAGCCTdeletionPathogenic/ Likely pathogenicrs587779859GRCh38Chr 11, 108327635: 108327658
14ATMNM_ 000051.3(ATM): c.7456C> T (p.Arg2486Ter)SNVPathogenicrs587779865GRCh38Chr 11, 108330362: 108330362
15ATMNM_ 000051.3(ATM): c.7630-2A> CSNVPathogenicrs587779866GRCh38Chr 11, 108331877: 108331877
16ATMNM_ 000051.3(ATM): c.7998dupT (p.Met2667Tyrfs)duplicationPathogenic/ Likely pathogenicrs587779869GRCh38Chr 11, 108333956: 108333956
17ATMNM_ 000051.3(ATM): c.8494C> T (p.Arg2832Cys)SNVPathogenic/ Likely pathogenicrs587779872GRCh38Chr 11, 108345818: 108345818
18ATMNM_ 000051.3(ATM): c.8786+1G> ASNVPathogenic/ Likely pathogenicrs17174393GRCh38Chr 11, 108353881: 108353881
19ATMNM_ 000051.3(ATM): c.5652dupA (p.Thr1885Asnfs)duplicationPathogenicrs587778077GRCh37Chr 11, 108175557: 108175557
20ATMNM_ 000051.3(ATM): c.8545C> T (p.Arg2849Ter)SNVPathogenicrs587778080GRCh38Chr 11, 108345869: 108345869
21ATMNM_ 000051.3(ATM): c.1027_ 1030delGAAAdeletionPathogenic/ Likely pathogenicrs587780612GRCh38Chr 11, 108247089: 108247092
22ATMNM_ 000051.3(ATM): c.7788G> A (p.Glu2596=)SNVPathogenicrs587780639GRCh38Chr 11, 108332037: 108332037
23ATMNM_ 000051.3(ATM): c.8266A> T (p.Lys2756Ter)SNVPathogenic/ Likely pathogenicrs371638537GRCh38Chr 11, 108335959: 108335959
24ATMNM_ 000051.3(ATM): c.9079dupA (p.Ser3027Lysfs)duplicationPathogenic/ Likely pathogenicrs587780645GRCh38Chr 11, 108365416: 108365416
25ATMNM_ 000051.3(ATM): c.6997dupA (p.Thr2333Asnfs)duplicationPathogenicrs587781299GRCh37Chr 11, 108198393: 108198393
26ATMNM_ 000051.3(ATM): c.6047A> G (p.Asp2016Gly)SNVLikely pathogenicrs587781302GRCh37Chr 11, 108186590: 108186590
27ATMNM_ 000051.3(ATM): c.1402_ 1403delAA (p.Lys468Glufs)deletionPathogenic/ Likely pathogenicrs587781347GRCh37Chr 11, 108121594: 108121595
28ATMNM_ 000051.3(ATM): c.8565_ 8566delTGinsAA (p.Ser2855_ Val2856delinsArgIle)indelLikely pathogenicrs587781353GRCh37Chr 11, 108216616: 108216617
29ATMNM_ 000051.3(ATM): c.378delT (p.Asp126Glufs)deletionPathogenicrs587781449GRCh37Chr 11, 108106443: 108106443
30ATMNM_ 000051.3(ATM): c.2921+1G> ASNVPathogenic/ Likely pathogenicrs587781558GRCh37Chr 11, 108141874: 108141874
31ATMNM_ 000051.3(ATM): c.7913G> A (p.Trp2638Ter)SNVPathogenic/ Likely pathogenicrs377349459GRCh38Chr 11, 108332886: 108332886
32ATMNM_ 000051.3(ATM): c.1290_ 1291delTG (p.Cys430Terfs)deletionPathogenic/ Likely pathogenicrs587781598GRCh38Chr 11, 108250755: 108250756
33ATMNM_ 000051.3(ATM): c.4373delG (p.Gly1458Glufs)deletionPathogenicrs587781653GRCh37Chr 11, 108160465: 108160465
34ATMNM_ 000051.3(ATM): c.2284_ 2285delCT (p.Leu762Valfs)deletionPathogenic/ Likely pathogenicrs587781658GRCh37Chr 11, 108128241: 108128242
35ATMNM_ 000051.3(ATM): c.7096G> T (p.Glu2366Ter)SNVPathogenic/ Likely pathogenicrs587781672GRCh37Chr 11, 108199754: 108199754
36ATMNM_ 000051.3(ATM): c.5908C> T (p.Gln1970Ter)SNVPathogenicrs587781722GRCh37Chr 11, 108181032: 108181032
37ATMNM_ 000051.3(ATM): c.5712dupA (p.Ser1905Ilefs)duplicationPathogenic/ Likely pathogenicrs587781730GRCh37Chr 11, 108178661: 108178661
38ATMNM_ 000051.3(ATM): c.3993+1G> ASNVPathogenicrs200196781GRCh37Chr 11, 108155201: 108155201
39ATMNM_ 000051.3(ATM): c.1355delC (p.Thr452Asnfs)deletionPathogenicrs587781776GRCh37Chr 11, 108121547: 108121547
40ATMNM_ 000051.3(ATM): c.3894dupT (p.Ala1299Cysfs)duplicationPathogenicrs587781823GRCh37Chr 11, 108155101: 108155101
41ATMNM_ 000051.3(ATM): c.9023G> A (p.Arg3008His)SNVLikely pathogenicrs587781894GRCh37Chr 11, 108236087: 108236087
42ATMNM_ 000051.3(ATM): c.7517_ 7520delGAGA (p.Arg2506Thrfs)deletionPathogenicrs587781905GRCh37Chr 11, 108202172: 108202175
43ATMNM_ 000051.3(ATM): c.4776+2T> CSNVPathogenicrs587781927GRCh37Chr 11, 108164206: 108164206
44ATMNM_ 000051.3(ATM): c.4198A> T (p.Lys1400Ter)SNVPathogenicrs587781950GRCh37Chr 11, 108159792: 108159792
45ATMNM_ 000051.3(ATM): c.8185C> T (p.Gln2729Ter)SNVPathogenic/ Likely pathogenicrs587781967GRCh37Chr 11, 108206605: 108206605
46ATMNM_ 000051.3(ATM): c.3381_ 3384delTCAG (p.Gln1128Lysfs)deletionPathogenic/ Likely pathogenicrs587781971GRCh37Chr 11, 108150314: 108150317
47ATMNM_ 000051.3(ATM): c.790delT (p.Tyr264Ilefs)deletionPathogenicrs587781978GRCh37Chr 11, 108115642: 108115642
48ATMNM_ 000051.3(ATM): c.1053dupT (p.Ile352Tyrfs)duplicationPathogenicrs587781984GRCh37Chr 11, 108117842: 108117842
49ATMNM_ 000051.3(ATM): c.7951C> T (p.Gln2651Ter)SNVPathogenic/ Likely pathogenicrs587781994GRCh37Chr 11, 108204636: 108204636
50ATMNM_ 000051.3(ATM): c.1898+2T> GSNVPathogenic/ Likely pathogenicrs587782124GRCh37Chr 11, 108123641: 108123641
51ATMNM_ 000051.3(ATM): c.3980T> G (p.Leu1327Ter)SNVPathogenicrs587782192GRCh37Chr 11, 108155187: 108155187
52ATMNM_ 000051.3(ATM): c.2921+1G> TSNVPathogenic/ Likely pathogenicrs587781558GRCh37Chr 11, 108141874: 108141874
53ATMNM_ 000051.3(ATM): c.3994-2A> GSNVPathogenic/ Likely pathogenicrs587782276GRCh37Chr 11, 108158325: 108158325
54ATMNM_ 000051.3(ATM): c.9022C> T (p.Arg3008Cys)SNVPathogenic/ Likely pathogenicrs587782292GRCh38Chr 11, 108365359: 108365359
55ATMNM_ 000051.3(ATM): c.4370T> G (p.Leu1457Ter)SNVPathogenic/ Likely pathogenicrs373226793GRCh37Chr 11, 108160462: 108160462
56ATMNM_ 000051.3(ATM): c.1110C> G (p.Tyr370Ter)SNVPathogenicrs376170600GRCh38Chr 11, 108248977: 108248977
57ATMNM_ 000051.3(ATM): c.6976-2A> CSNVLikely pathogenicrs587782403GRCh38Chr 11, 108327643: 108327643
58ATMNM_ 000051.3(ATM): c.8432delA (p.Lys2811Serfs)deletionPathogenicrs587782558GRCh37Chr 11, 108216483: 108216483
59ATMNM_ 000051.3(ATM): c.8147T> C (p.Val2716Ala)SNVPathogenic/ Likely pathogenicrs587782652GRCh37Chr 11, 108205832: 108205832
60ATMNM_ 000051.3(ATM): c.7838_ 7839dupGA (p.Pro2614Aspfs)duplicationPathogenicrs730881293GRCh38Chr 11, 108332811: 108332812
61ATMNM_ 000051.3(ATM): c.8264_ 8268delATAAG (p.Tyr2755Cysfs)deletionPathogenicrs730881294GRCh38Chr 11, 108335957: 108335961
62ATMNM_ 000051.3(ATM): c.8418+5_ 8418+8delGTGAdeletionPathogenicrs730881295GRCh38Chr 11, 108343376: 108343379
63ATMNM_ 000051.3(ATM): c.368delA (p.Tyr123Leufs)deletionPathogenicrs730881296GRCh38Chr 11, 108235706: 108235706
64ATMNM_ 000051.3(ATM): c.549_ 550delTA (p.His183Glnfs)deletionPathogenicrs730881297GRCh38Chr 11, 108244005: 108244006
65ATMNM_ 000051.3(ATM): c.2880delC (p.Leu961Cysfs)deletionPathogenic/ Likely pathogenicrs730881300GRCh37Chr 11, 108141832: 108141832
66ATMNM_ 000051.3(ATM): c.4143dupT (p.Pro1382Serfs)duplicationPathogenicrs730881309GRCh38Chr 11, 108289010: 108289010
67ATMNM_ 000051.3(ATM): c.5320-5_ 5320-2delTCTAdeletionPathogenicrs730881310GRCh38Chr 11, 108302848: 108302851
68ATMNM_ 000051.3(ATM): c.8584+2T> CSNVLikely pathogenicrs730881326GRCh37Chr 11, 108216637: 108216637
69ATMNM_ 000051.3(ATM): c.742C> T (p.Arg248Ter)SNVPathogenic/ Likely pathogenicrs730881336GRCh38Chr 11, 108244867: 108244867
70ATMNM_ 000051.3(ATM): c.2251-10T> GSNVPathogenic/ Likely pathogenicrs730881346GRCh38Chr 11, 108257471: 108257471
71ATMNM_ 000051.3(ATM): c.3154-2A> GSNVPathogenicrs730881357GRCh37Chr 11, 108143447: 108143447
72ATMNM_ 000051.3(ATM): c.1A> G (p.Met1Val)SNVPathogenicrs730881359GRCh38Chr 11, 108227625: 108227625
73ATMNM_ 000051.3(ATM): c.6095G> A (p.Arg2032Lys)SNVPathogenic/ Likely pathogenicrs139770721GRCh38Chr 11, 108315911: 108315911
74ATMNM_ 000051.3(ATM): c.6679C> T (p.Arg2227Cys)SNVPathogenic/ Likely pathogenicrs564652222GRCh38Chr 11, 108325416: 108325416
75ATMNM_ 000051.3(ATM): c.3049C> T (p.Gln1017Ter)SNVPathogenicrs730881388GRCh37Chr 11, 108142105: 108142105
76ATMNM_ 000051.3(ATM): c.5890A> T (p.Lys1964Ter)SNVPathogenic/ Likely pathogenicrs201963507GRCh38Chr 11, 108310287: 108310287
77ATMNM_ 000051.3(ATM): c.3712_ 3716delTTATT (p.Leu1238Lysfs)deletionPathogenic/ Likely pathogenicrs786201675GRCh37Chr 11, 108153572: 108153576
78ATMNM_ 000051.3(ATM): c.2839-3_ 2839delTAGTinsGATACTAindelLikely pathogenicrs786202148GRCh37Chr 11, 108141788: 108141791
79ATMNM_ 000051.3(ATM): c.478_ 482delTCTCA (p.Ser160Alafs)deletionPathogenicrs587780624GRCh37Chr 11, 108106543: 108106547
80ATMNM_ 000051.3(ATM): c.4052delT (p.Leu1351Tyrfs)deletionPathogenicrs786202350GRCh37Chr 11, 108158385: 108158385
81ATMNM_ 000051.3(ATM): c.8036_ 8051del16 (p.Asn2679Serfs)deletionPathogenicrs587780640GRCh37Chr 11, 108205721: 108205736
82ATMNM_ 000051.3(ATM): c.2754delT (p.Phe918Leufs)deletionPathogenicrs786202608GRCh37Chr 11, 108139252: 108139252
83ATMNM_ 000051.3(ATM): c.2720_ 2723delGTGT (p.Cys907Terfs)deletionPathogenicrs786202695GRCh37Chr 11, 108139218: 108139221
84ATMNM_ 000051.3(ATM): c.8395_ 8404delTTTCAGTGCC (p.Phe2799Lysfs)deletionPathogenicrs786202800GRCh37Chr 11, 108214075: 108214084
85ATMNM_ 000051.3(ATM): c.8711A> G (p.Glu2904Gly)SNVLikely pathogenicrs786202826GRCh37Chr 11, 108224532: 108224532
86ATMNM_ 000051.3(ATM): c.8977C> T (p.Arg2993Ter)SNVPathogenic/ Likely pathogenicrs770641163GRCh37Chr 11, 108235935: 108235935
87ATMNM_ 000051.3(ATM): c.8293G> A (p.Gly2765Ser)SNVPathogenic/ Likely pathogenicrs748634900GRCh37Chr 11, 108213973: 108213973
88ATMNM_ 000051.3(ATM): c.1065+1G> TSNVPathogenic/ Likely pathogenicrs201089102GRCh37Chr 11, 108117855: 108117855
89ATMNM_ 000051.3(ATM): c.6228delT (p.Leu2077Phefs)deletionPathogenicrs786203008GRCh38Chr 11, 108317402: 108317402
90ATMNM_ 000051.3(ATM): c.901+1G> ASNVPathogenicrs748840480GRCh37Chr 11, 108115754: 108115754
91ATMNM_ 000051.3(ATM): c.2789T> G (p.Leu930Ter)SNVPathogenic/ Likely pathogenicrs786203309GRCh37Chr 11, 108139287: 108139287
92ATMNM_ 000051.3(ATM): c.7000_ 7003delTACA (p.Tyr2334Glnfs)deletionPathogenic/ Likely pathogenicrs786203421GRCh37Chr 11, 108198396: 108198399
93ATMNM_ 000051.3(ATM): c.8786+1G> CSNVPathogenicrs17174393GRCh37Chr 11, 108224608: 108224608
94ATMNM_ 000051.3(ATM): c.2T> C (p.Met1Thr)SNVPathogenic/ Likely pathogenicrs786203606GRCh37Chr 11, 108098353: 108098353
95ATMNM_ 000051.3(ATM): c.2426C> A (p.Ser809Ter)SNVPathogenicrs730881348GRCh37Chr 11, 108129762: 108129762
96ATMNM_ 000051.3(ATM): c.2921+1G> CSNVPathogenic/ Likely pathogenicrs587781558GRCh38Chr 11, 108271147: 108271147
97ATMNM_ 000051.3(ATM): c.8851-?_ *(1_ ?)deldeletionPathogenicGRCh37Chr 11, 108235809: 108236236
98ATMNM_ 000051.3(ATM): c.72+1G> ASNVLikely pathogenicrs786204088GRCh38Chr 11, 108227697: 108227697
99ATMNM_ 000051.3(ATM): c.5644C> T (p.Arg1882Ter)SNVPathogenic/ Likely pathogenicrs786204433GRCh38Chr 11, 108304822: 108304822
100ATMNM_ 000051.3(ATM): c.7927+5delGdeletionLikely pathogenicrs786204437GRCh38Chr 11, 108332905: 108332905
101ATMNM_ 000051.3(ATM): c.640delT (p.Ser214Profs)deletionLikely pathogenicrs786204543GRCh38Chr 11, 108244096: 108244096
102ATMNM_ 000051.3(ATM): c.3G> A (p.Met1Ile)SNVPathogenic/ Likely pathogenicrs781404312GRCh38Chr 11, 108227627: 108227627
103ATMNM_ 000051.3(ATM): c.802C> T (p.Gln268Ter)SNVPathogenic/ Likely pathogenicrs557012154GRCh37Chr 11, 108115654: 108115654
104ATMNM_ 000051.3(ATM): c.5188C> T (p.Arg1730Ter)SNVPathogenic/ Likely pathogenicrs764389018GRCh38Chr 11, 108301658: 108301658
105ATMNM_ 000051.3(ATM): c.8307G> A (p.Trp2769Ter)SNVPathogenic/ Likely pathogenicrs778269655GRCh38Chr 11, 108343260: 108343260
106ATMNM_ 000051.3(ATM): c.8876_ 8879delACTG (p.Asp2959Glyfs)deletionPathogenic/ Likely pathogenicrs786204726GRCh37Chr 11, 108235834: 108235837
107ATMNM_ 000051.3(ATM): c.1524delT (p.Gly509Glufs)deletionLikely pathogenicrs786204737GRCh38Chr 11, 108250989: 108250989
108ATMNM_ 000051.3(ATM): c.5515C> T (p.Gln1839Ter)SNVLikely pathogenicrs786204751GRCh38Chr 11, 108304693: 108304693
109ATMNM_ 000051.3(ATM): c.4111delG (p.Asp1371Ilefs)deletionPathogenic/ Likely pathogenicrs797045114GRCh37Chr 11, 108159705: 108159705
110ATMNM_ 000051.3(ATM): c.6049dupA (p.Ser2017Lysfs)duplicationPathogenicrs797045030GRCh38Chr 11, 108315865: 108315865
111ATMNM_ 000051.3(ATM): c.7926A> C (p.Arg2642Ser)SNVLikely pathogenicrs863224440GRCh38Chr 11, 108332899: 108332899
112ATMNM_ 000051.3(ATM): c.1284_ 1291delTAACTGTG (p.Asn429Alafs)deletionPathogenicrs863224460GRCh37Chr 11, 108121476: 108121483
113ATMNM_ 000051.3(ATM): c.140C> G (p.Ser47Ter)SNVPathogenicrs774185390GRCh38Chr 11, 108227843: 108227843
114ATMNM_ 000051.3(ATM): c.2413C> T (p.Arg805Ter)SNVPathogenicrs780619951GRCh38Chr 11, 108259022: 108259022
115ATMNM_ 000051.3(ATM): c.6750_ 6751insCTCA (p.Lys2253Hisfs)insertionPathogenicrs863224461GRCh38Chr 11, 108325487: 108325488
116ATMNM_ 000051.3(ATM): c.7240C> T (p.Gln2414Ter)SNVPathogenicrs863224462GRCh37Chr 11, 108199898: 108199898
117ATMNM_ 000051.3(ATM): c.748C> T (p.Arg250Ter)SNVPathogenicrs772821016GRCh38Chr 11, 108244873: 108244873
118ATMNM_ 000051.3(ATM): c.7985T> A (p.Val2662Asp)SNVPathogenicrs863224463GRCh37Chr 11, 108204670: 108204670
119ATMNM_ 000051.3(ATM): c.2113delT (p.Tyr705Thrfs)deletionPathogenicrs863224822GRCh38Chr 11, 108254028: 108254028
120ATMNM_ 000051.3(ATM): c.6415_ 6416delGA (p.Glu2139Ilefs)deletionPathogenic/ Likely pathogenicrs863225466GRCh38Chr 11, 108320021: 108320022
121ATMNM_ 000051.3(ATM): c.3284+1G> ASNVLikely pathogenicrs864622129GRCh37Chr 11, 108143580: 108143580
122ATMNM_ 000051.3(ATM): c.785T> A (p.Leu262Ter)SNVPathogenicrs864622163GRCh38Chr 11, 108244910: 108244910
123ATMNM_ 000051.3(ATM): c.4736dupA (p.Ile1581Asnfs)duplicationPathogenicrs864622164GRCh37Chr 11, 108164164: 108164164
124ATMNM_ 000051.3(ATM): c.8988-1G> ASNVPathogenic/ Likely pathogenicrs730881386GRCh38Chr 11, 108365324: 108365324
125ATMNM_ 000051.3(ATM): c.7789-3T> GSNVPathogenicrs864622185GRCh37Chr 11, 108203486: 108203486
126ATMNM_ 000051.3(ATM): c.4804_ 4805delGT (p.Val1602Leufs)deletionPathogenicrs864622290GRCh37Chr 11, 108165681: 108165682
127ATMNM_ 000051.3(ATM): c.3403-?_ *(1_ ?)deldeletionPathogenicGRCh38Chr 11, 108280995: 108365509
128ATMNM_ 000051.3(ATM): c.6650_ 6657delTTAGTTTT (p.Phe2217Serfs)deletionPathogenicrs864622326GRCh37Chr 11, 108196114: 108196121
129ATMNM_ 000051.3(ATM): c.1369C> T (p.Arg457Ter)SNVPathogenicrs749036865GRCh38Chr 11, 108250834: 108250834
130ATMNM_ 000051.3(ATM): c.3077+1G> ASNVLikely pathogenicrs192810283GRCh38Chr 11, 108271407: 108271407
131ATMNM_ 000051.3(ATM): c.6348-2A> GSNVLikely pathogenicrs864622367GRCh38Chr 11, 108319952: 108319952
132ATMNM_ 000051.3(ATM): c.824delT (p.Leu275Terfs)deletionPathogenicrs864622389GRCh38Chr 11, 108244949: 108244949
133ATMNM_ 000051.3(ATM): c.185+1G> ASNVLikely pathogenicrs112805604GRCh37Chr 11, 108098616: 108098616
134ATMNM_ 000051.3(ATM): c.1914_ 1929dup16 (p.Ser644Argfs)duplicationPathogenicrs864622415GRCh37Chr 11, 108124556: 108124571
135ATMNM_ 000051.3(ATM): c.7010_ 7011delGT (p.Cys2337Serfs)deletionPathogenicrs864622416GRCh37Chr 11, 108198406: 108198407
136ATMNM_ 000051.3(ATM): c.4588G> T (p.Glu1530Ter)SNVPathogenicrs864622479GRCh38Chr 11, 108292770: 108292770
137ATMNM_ 000051.3(ATM): c.3663G> A (p.Trp1221Ter)SNVPathogenicrs864622490GRCh38Chr 11, 108282796: 108282796
138ATMNM_ 000051.3(ATM): c.7705_ 7706delGA (p.Asp2569Terfs)deletionPathogenic/ Likely pathogenicrs759965045GRCh38Chr 11, 108331954: 108331955
139ATMNM_ 000051.3(ATM): c.1607+1G> TSNVPathogenic/ Likely pathogenicrs772926890GRCh38Chr 11, 108251073: 108251073
140ATMNM_ 000051.3(ATM): c.7928-2A> TSNVLikely pathogenicrs864622610GRCh37Chr 11, 108204611: 108204611
141ATMNM_ 000051.3(ATM): c.6404_ 6405insTT (p.Arg2136Terfs)insertionPathogenic/ Likely pathogenicrs864622649GRCh37Chr 11, 108190737: 108190738
142ATMNM_ 000051.3(ATM): c.5015delG (p.Gly1672Glufs)deletionPathogenicrs864622662GRCh38Chr 11, 108299723: 108299723
143ATMNM_ 000051.3(ATM): c.8873_ 8874delTT (p.Phe2958Terfs)deletionPathogenicrs864622669GRCh38Chr 11, 108365104: 108365105
144ATMNM_ 000051.3(ATM): c.4735C> T (p.Gln1579Ter)SNVPathogenic/ Likely pathogenicrs869312755GRCh38Chr 11, 108293436: 108293436
145ATMNM_ 000051.3(ATM): c.5762+1G> TSNVLikely pathogenicrs869312756GRCh37Chr 11, 108178712: 108178712
146ATMNM_ 000051.3(ATM): c.2455T> C (p.Cys819Arg)SNVLikely pathogenicrs775644968GRCh37Chr 11, 108129791: 108129791
147ATMNM_ 000051.3(ATM): c.6397C> T (p.Gln2133Ter)SNVPathogenicrs876658163GRCh37Chr 11, 108190730: 108190730
148ATMNM_ 000051.3(ATM): c.4098_ 4099delTG (p.Cys1366Terfs)deletionPathogenic/ Likely pathogenicrs876658248GRCh37Chr 11, 108158431: 108158432
149ATMNM_ 000051.3(ATM): c.5549delT (p.Leu1850Tyrfs)deletionPathogenic/ Likely pathogenicrs876658287GRCh37Chr 11, 108175454: 108175454
150ATMNM_ 000051.3(ATM): c.7886_ 7890delTATTA (p.Ile2629Serfs)deletionPathogenicrs587776548GRCh37Chr 11, 108203586: 108203590
151ATMNM_ 000051.3(ATM): c.3085dupA (p.Thr1029Asnfs)duplicationPathogenicrs876658502GRCh37Chr 11, 108143266: 108143266
152ATMNM_ 000051.3(ATM): c.7088delA (p.Lys2363Argfs)deletionPathogenicrs876658512GRCh37Chr 11, 108198484: 108198484
153ATMNM_ 000051.3(ATM): c.5798G> A (p.Trp1933Ter)SNVPathogenic/ Likely pathogenicrs876658740GRCh37Chr 11, 108180922: 108180922
154ATMNM_ 000051.3(ATM): c.331+5G> ASNVPathogenic/ Likely pathogenicrs752135143GRCh37Chr 11, 108100055: 108100055
155ATMNM_ 000051.3(ATM): c.3510dupA (p.Gln1171Thrfs)duplicationPathogenicrs876658899GRCh37Chr 11, 108151829: 108151829
156ATMNM_ 000051.3(ATM): c.756_ 757delTG (p.Cys252Terfs)deletionPathogenic/ Likely pathogenicrs876659003GRCh37Chr 11, 108115608: 108115609
157ATMNM_ 000051.3(ATM): c.3078-1G> ASNVPathogenic/ Likely pathogenicrs750663117GRCh37Chr 11, 108143258: 108143258
158ATMNM_ 000051.3(ATM): c.8010+1delGdeletionLikely pathogenicrs876659350GRCh37Chr 11, 108204696: 108204696
159ATMNM_ 000051.3(ATM): c.2023C> T (p.Gln675Ter)SNVPathogenic/ Likely pathogenicrs777849257GRCh37Chr 11, 108124665: 108124665
160ATMNM_ 000051.3(ATM): c.3935dupG (p.Glu1313Argfs)duplicationPathogenic/ Likely pathogenicrs876659672GRCh37Chr 11, 108155142: 108155142
161ATMNM_ 000051.3(ATM): c.2251-1G> CSNVPathogenic/ Likely pathogenicrs876659710GRCh37Chr 11, 108128207: 108128207
162ATMNM_ 000051.3(ATM): c.7629_ 7629+4delTGTAAdeletionPathogenicrs876660041GRCh37Chr 11, 108202284: 108202288
163ATMNM_ 000051.3(ATM): c.5979_ 5983delTAAAG (p.Ser1993Argfs)deletionPathogenicrs876660134GRCh37Chr 11, 108183198: 108183202
164ATMNM_ 000051.3(ATM): c.9019G> T (p.Glu3007Ter)SNVPathogenic/ Likely pathogenicrs876660382GRCh37Chr 11, 108236083: 108236083
165ATMNM_ 000051.3(ATM): c.8802delC (p.Met2935Trpfs)deletionPathogenic/ Likely pathogenicrs876660567GRCh37Chr 11, 108225553: 108225553
166ATMNM_ 000051.3(ATM): c.3218dupT (p.Phe1074Ilefs)duplicationPathogenic/ Likely pathogenicrs876660741GRCh37Chr 11, 108143513: 108143513
167ATMNM_ 000051.3(ATM): c.3850delA (p.Thr1284Glnfs)deletionPathogenicrs876660865GRCh37Chr 11, 108155057: 108155057
168ATMNM_ 000051.3(ATM): c.1240C> T (p.Gln414Ter)SNVPathogenicrs866521873GRCh38Chr 11, 108250705: 108250705
169ATMNM_ 000051.3(ATM): c.192delA (p.Leu64Phefs)deletionPathogenic/ Likely pathogenicrs878853490GRCh38Chr 11, 108229184: 108229184
170ATMNM_ 000051.3(ATM): c.2466+2T> ASNVLikely pathogenicrs878853495GRCh38Chr 11, 108259077: 108259077
171ATMNM_ 000051.3(ATM): c.289delA (p.Ile97Serfs)deletionPathogenicrs878853497GRCh38Chr 11, 108229281: 108229281
172ATMNM_ 000051.3(ATM): c.4396C> T (p.Arg1466Ter)SNVPathogenicrs730881369GRCh37Chr 11, 108160488: 108160488
173ATMNM_ 000051.3(ATM): c.5203dupA (p.Thr1735Asnfs)duplicationPathogenicrs878853518GRCh37Chr 11, 108172400: 108172400
174ATMNM_ 000051.3(ATM): c.5443delG (p.Asp1815Thrfs)deletionPathogenicrs878853522GRCh38Chr 11, 108302976: 108302976
175ATMNM_ 000051.3(ATM): c.5549T> A (p.Leu1850Ter)SNVPathogenicrs878853525GRCh38Chr 11, 108304727: 108304727
176ATMNM_ 000051.3(ATM): c.6239_ 6240delAT (p.Tyr2080Phefs)deletionPathogenicrs878853529GRCh37Chr 11, 108188140: 108188141
177ATMNM_ 000051.3(ATM): c.6373delC (p.His2125Metfs)deletionPathogenicrs878853530GRCh38Chr 11, 108319979: 108319979
178ATMNM_ 000051.3(ATM): c.6667delA (p.Ile2223Serfs)deletionPathogenicrs878853533GRCh38Chr 11, 108325404: 108325404
179ATMNM_ 000051.3(ATM): c.6916_ 6917delAG (p.Leu2307Cysfs)deletionPathogenicrs878853535GRCh38Chr 11, 108326166: 108326167
180ATMNM_ 000051.3(ATM): c.7091delC (p.Ala2364Glufs)deletionPathogenicrs878853538GRCh38Chr 11, 108329022: 108329022
181ATMNM_ 000051.3(ATM): c.7563C> G (p.Tyr2521Ter)SNVPathogenicrs772228129GRCh38Chr 11, 108331491: 108331491
182ATMNM_ 000051.3(ATM): c.8292_ 8293delTG (p.Ser2764Argfs)deletionPathogenic/ Likely pathogenicrs879254036GRCh38Chr 11, 108343245: 108343246
183ATMNM_ 000051.3(ATM): c.1463G> A (p.Trp488Ter)SNVPathogenicrs879254093GRCh38Chr 11, 108250928: 108250928
184ATMNM_ 000051.3(ATM): c.8269-?_ 8671+?deldeletionPathogenic
185ATMNM_ 000051.3(ATM): c.2467-?_ 8850+?dup6384duplicationLikely pathogenicGRCh37Chr 11, 108137898: 108225601
186ATMNM_ 000051.3(ATM): c.2839-?_ 4109+?deldeletionPathogenic
187ATMNC_ 000011.10: g.(?_ 108365082)_ (108365508_ ?)deldeletionPathogenicGRCh38Chr 11, 108365082: 108365508
188ATMNC_ 000011.10: g.(?_ 108365082)_ (108365508_ ?)dupduplicationLikely pathogenicGRCh37Chr 11, 108235809: 108236235
189ATMc.2851-10T> Gundetermined variantPathogenic
190ATMc.2810_ 2811insCTAGundetermined variantPathogenic
191ATMc.7327C> Tundetermined variantPathogenic
192ATMc.7926A> Cundetermined variantPathogenic
193ATMc.5908C> Tundetermined variantPathogenic
194ATMc.7449G> Aundetermined variantPathogenic
195ATMc.4507C> Tundetermined variantPathogenic
196ATMc.8264_ 8268del5undetermined variantPathogenic
197ATMc.1120C> Tundetermined variantPathogenic
198ATMc.4852C> Tundetermined variantPathogenic
199ATMNG_ 009830.1: g.118063_ 118073delTGTGTAATACAins6indelPathogenicrs1057519029GRCh38Chr 11, 108335894: 108335904
200ATMc.3576G> Aundetermined variantPathogenic
201ATMc.3894dupTundetermined variantPathogenic
202ATMc.7883_ 7887del5undetermined variantPathogenic
203ATMc.5390+2T> Cundetermined variantPathogenic
204ATMc.103C> Tundetermined variantPathogenic
205ATMc.3245_ 3247delATCinsTGATundetermined variantPathogenic
206ATMc.8313-2A> Cundetermined variantPathogenic
207ATMc.6095G> Aundetermined variantPathogenic
208ATMc.7010_ 7011delundetermined variantPathogenic
209ATMc.5932G> Tundetermined variantPathogenic
210ATMc.2T> Cundetermined variantPathogenic
211ATMc.1563delAGundetermined variantPathogenic
212ATMc.2249ins9undetermined variantPathogenic
213ATMc.2284_ 2285delCTundetermined variantPathogenic
214ATMc.2639del200ntundetermined variantPathogenic
215ATMc.3802delGundetermined variantPathogenic
216ATMc.6404_ 6405insTTundetermined variantPathogenic
217ATMc.7271T> Gundetermined variantPathogenic
218ATMc.8786+1G> Aundetermined variantPathogenic
219ATMc.5395-12A> Gundetermined variantPathogenic
220ATMc.9372+1G> Aundetermined variantPathogenic
221ATMNM_ 000051.3(ATM): c.1139_ 1142dupACAG (p.Ser381Argfs)duplicationPathogenic/ Likely pathogenicrs886041340GRCh37Chr 11, 108119736: 108119736
222ATMNM_ 000051.3(ATM): c.7279_ 7284delCTTAGG (p.Leu2427_ Arg2428del)deletionPathogenicrs796051856GRCh38Chr 11, 108329210: 108329215
223ATMNM_ 000051.3(ATM): c.5762_ 5763insNG_ 009830.1: g.91138_ 91274SNVPathogenicrs774925473GRCh37Chr 11, 108179837: 108179837
224ATMNM_ 000051.3(ATM): c.7271T> G (p.Val2424Gly)SNVPathogenic/ Likely pathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
225ATMNM_ 000051.3(ATM): c.103C> T (p.Arg35Ter)SNVPathogenic/ Likely pathogenicrs55861249GRCh37Chr 11, 108098533: 108098533
226ATMNM_ 000051.3(ATM): c.9139C> T (p.Arg3047Ter)SNVPathogenicrs121434219GRCh37Chr 11, 108236203: 108236203
227ATMNM_ 000051.3(ATM): c.7875_ 7876delTGinsGC (p.Asp2625_ Ala2626delinsGluPro)indelPathogenic/ Likely pathogenicrs267606668GRCh37Chr 11, 108203575: 108203576
228ATMNM_ 000051.3(ATM): c.3245_ 3247delATCinsTGAT (p.His1082Leufs)indelPathogenicrs587776549GRCh38Chr 11, 108272813: 108272815
229ATMNM_ 000051.3(ATM): c.7988_ 7991delTTGT (p.Val2663Alafs)deletionPathogenicrs587776550GRCh38Chr 11, 108333946: 108333949
230ATMNM_ 000051.3(ATM): c.3576G> A (p.Lys1192=)SNVPathogenicrs587776551GRCh38Chr 11, 108281168: 108281168
231ATMNM_ 000051.3(ATM): c.7327C> T (p.Arg2443Ter)SNVPathogenic/ Likely pathogenicrs121434220GRCh37Chr 11, 108200960: 108200960
232ATMNM_ 000051.3(ATM): c.2839-581_ 2839-578delGTAAdeletionPathogenicrs587776552GRCh38Chr 11, 108270483: 108270486
233ATMNM_ 000051.3(ATM): c.146C> G (p.Ser49Cys)SNVrisk factorrs1800054GRCh37Chr 11, 108098576: 108098576
234ATMNM_ 000051.3(ATM): c.8671+2T> CSNVLikely pathogenicrs1057516229GRCh37Chr 11, 108218094: 108218094
235ATMNM_ 000051.3(ATM): c.7089+2T> GSNVLikely pathogenicrs1057516235GRCh38Chr 11, 108327760: 108327760
236ATMNM_ 000051.3(ATM): c.3994-1G> TSNVLikely pathogenicrs1057516238GRCh38Chr 11, 108287599: 108287599
237ATMNM_ 000051.3(ATM): c.2999dupA (p.Asn1000Lysfs)duplicationLikely pathogenicrs1057516250GRCh37Chr 11, 108142055: 108142055
238ATMNM_ 000051.3(ATM): c.9064dupG (p.Glu3022Glyfs)duplicationLikely pathogenicrs1057516282GRCh38Chr 11, 108365401: 108365401
239ATMNM_ 000051.3(ATM): c.3315dupC (p.Arg1106Glnfs)duplicationLikely pathogenicrs1057516301GRCh38Chr 11, 108279521: 108279521
240ATMNM_ 000051.3(ATM): c.5319+1G> TSNVLikely pathogenicrs876660175GRCh38Chr 11, 108301790: 108301790
241ATMNM_ 000051.3(ATM): c.4246C> T (p.Gln1416Ter)SNVLikely pathogenicrs1057516311GRCh38Chr 11, 108289611: 108289611
242ATMNM_ 000051.3(ATM): c.5130_ 5131delGAinsAC (p.Trp1710Ter)indelLikely pathogenicrs1057516358GRCh38Chr 11, 108299838: 108299839
243ATMNM_ 000051.3(ATM): c.2165dupT (p.Leu722Phefs)duplicationLikely pathogenicrs1057516393GRCh38Chr 11, 108256255: 108256255
244ATMNM_ 000051.3(ATM): c.877A> T (p.Lys293Ter)SNVLikely pathogenicrs1057516442GRCh38Chr 11, 108245002: 108245002
245ATMNM_ 000051.3(ATM): c.3351_ 3354delAACA (p.Thr1118Leufs)deletionLikely pathogenicrs1057516446GRCh38Chr 11, 108279557: 108279560
246ATMNM_ 000051.3(ATM): c.6095+2T> CSNVLikely pathogenicrs1057516525GRCh38Chr 11, 108315913: 108315913
247ATMNM_ 000051.3(ATM): c.8851-1G> TSNVLikely pathogenicrs1057516537GRCh38Chr 11, 108365081: 108365081
248ATMNM_ 000051.3(ATM): c.5320-4_ 5323del8deletionLikely pathogenicrs1057516540GRCh38Chr 11, 108302849: 108302856
249ATMNM_ 000051.3(ATM): c.3880dupA (p.Ile1294Asnfs)duplicationLikely pathogenicrs1057516541GRCh38Chr 11, 108284360: 108284360
250ATMNM_ 000051.3(ATM): c.2377-2A> GSNVLikely pathogenicrs1057516553GRCh37Chr 11, 108129711: 108129711
251ATMNM_ 000051.3(ATM): c.3068delG (p.Gly1023Glufs)deletionLikely pathogenicrs1057516590GRCh38Chr 11, 108271397: 108271397
252ATMNM_ 000051.3(ATM): c.7880delA (p.Tyr2627Leufs)deletionLikely pathogenicrs1057516599GRCh37Chr 11, 108203580: 108203580
253ATMNM_ 000051.3(ATM): c.2135C> G (p.Ser712Ter)SNVLikely pathogenicrs1057516620GRCh38Chr 11, 108256225: 108256225
254ATMNM_ 000051.3(ATM): c.5554C> T (p.Gln1852Ter)SNVLikely pathogenicrs754562056GRCh38Chr 11, 108304732: 108304732
255ATMNM_ 000051.3(ATM): c.8418+1G> ASNVLikely pathogenicrs766533795GRCh38Chr 11, 108343372: 108343372
256ATMNM_ 000051.3(ATM): c.588delA (p.Gly197Aspfs)deletionLikely pathogenicrs1057516683GRCh37Chr 11, 108114771: 108114771
257ATMNM_ 000051.3(ATM): c.1741_ 1742delTT (p.Leu581Ilefs)deletionLikely pathogenicrs1057516721GRCh38Chr 11, 108251970: 108251971
258ATMNM_ 000051.3(ATM): c.5460dupA (p.Cys1821Metfs)duplicationPathogenic/ Likely pathogenicrs1057516760GRCh38Chr 11, 108302993: 108302993
259ATMNM_ 000051.3(ATM): c.2542G> T (p.Glu848Ter)SNVLikely pathogenicrs879254046GRCh38Chr 11, 108267246: 108267246
260ATMNM_ 000051.3(ATM): c.8814_ 8824delGAGAAACTCTC (p.Met2938Ilefs)deletionLikely pathogenicrs758814126GRCh38Chr 11, 108354838: 108354848
261ATMNM_ 000051.3(ATM): c.7166C> G (p.Ser2389Ter)SNVLikely pathogenicrs1018140779GRCh37Chr 11, 108199824: 108199824
262ATMNM_ 000051.3(ATM): c.4732C> T (p.Gln1578Ter)SNVLikely pathogenicrs746499337GRCh38Chr 11, 108293433: 108293433
263ATMNM_ 000051.3(ATM): c.1655delC (p.Pro552Glnfs)deletionLikely pathogenicrs1057516876GRCh37Chr 11, 108122611: 108122611
264ATMNM_ 000051.3(ATM): c.3993+1G> TSNVLikely pathogenicrs200196781GRCh38Chr 11, 108284474: 108284474
265ATMNM_ 000051.3(ATM): c.6482_ 6483dupGC (p.Ser2162Alafs)duplicationLikely pathogenicrs1057516905GRCh38Chr 11, 108321330: 108321331
266ATMNM_ 000051.3(ATM): c.4776+2T> ASNVLikely pathogenicrs587781927GRCh37Chr 11, 108164206: 108164206
267ATMNM_ 000051.3(ATM): c.2606_ 2607delCA (p.Ala869Glufs)deletionLikely pathogenicrs1057516944GRCh38Chr 11, 108267310: 108267311
268ATMNM_ 000051.3(ATM): c.2377_ 2378dupAA (p.Ser794Argfs)duplicationPathogenic/ Likely pathogenicrs1057516980GRCh37Chr 11, 108129713: 108129714
269ATMNM_ 000051.3(ATM): c.3541A> T (p.Lys1181Ter)SNVLikely pathogenicrs1057516981GRCh37Chr 11, 108151860: 108151860
270ATMNM_ 000051.3(ATM): c.7767delA (p.Lys2589Asnfs)deletionLikely pathogenicrs1057517025GRCh37Chr 11, 108202743: 108202743
271ATMNM_ 000051.3(ATM): c.8098A> T (p.Lys2700Ter)SNVLikely pathogenicrs758588019GRCh37Chr 11, 108205783: 108205783
272ATMNM_ 000051.3(ATM): c.5763-2A> TSNVLikely pathogenicrs876659489GRCh38Chr 11, 108310158: 108310158
273ATMNM_ 000051.3(ATM): c.3231dupT (p.Leu1078Serfs)duplicationLikely pathogenicrs1057517097GRCh37Chr 11, 108143526: 108143526
274ATMNM_ 000051.3(ATM): c.3990delA (p.Lys1330Asnfs)deletionLikely pathogenicrs1057517100GRCh37Chr 11, 108155197: 108155197
275ATMNM_ 000051.3(ATM): c.5351delA (p.Asn1784Thrfs)deletionLikely pathogenicrs1057517101GRCh38Chr 11, 108302884: 108302884
276ATMNM_ 000051.3(ATM): c.6347+1G> ASNVLikely pathogenicrs1057517120GRCh38Chr 11, 108317522: 108317522
277ATMNM_ 000051.3(ATM): c.3603delT (p.Phe1201Leufs)deletionLikely pathogenicrs1057517129GRCh37Chr 11, 108153463: 108153463
278ATMNM_ 000051.3(ATM): c.4019_ 4029delTACCAGAGATT (p.Leu1340Cysfs)deletionPathogenic/ Likely pathogenicrs1057517140GRCh38Chr 11, 108287625: 108287635
279ATMNM_ 000051.3(ATM): c.3747-2A> GSNVLikely pathogenicrs1057517213GRCh37Chr 11, 108154952: 108154952
280ATMNM_ 000051.3(ATM): c.3577-1G> CSNVLikely pathogenicrs1057517226GRCh38Chr 11, 108282709: 108282709
281ATMNM_ 000051.3(ATM): c.6040G> T (p.Glu2014Ter)SNVLikely pathogenicrs375783941GRCh38Chr 11, 108315856: 108315856
282ATMNM_ 000051.3(ATM): c.2125delA (p.Ile709Leufs)deletionLikely pathogenicrs1057517248GRCh38Chr 11, 108256215: 108256215
283ATMNM_ 000051.3(ATM): c.2877C> G (p.Tyr959Ter)SNVLikely pathogenicrs1057517253GRCh37Chr 11, 108141829: 108141829
284ATMNM_ 000051.3(ATM): c.1856delA (p.Asn619Thrfs)deletionLikely pathogenicrs1057517300GRCh38Chr 11, 108252870: 108252870
285ATMNM_ 000051.3(ATM): c.6348-1G> ASNVLikely pathogenicrs1057517302GRCh37Chr 11, 108190680: 108190680
286ATMNM_ 000051.3(ATM): c.1803-2A> GSNVLikely pathogenicrs1057517358GRCh37Chr 11, 108123542: 108123542
287ATMNM_ 000051.3(ATM): c.5005+1G> TSNVLikely pathogenicrs1057517427GRCh38Chr 11, 108297383: 108297383
288ATMNM_ 000051.3(ATM): c.4695delT (p.Pro1566Leufs)deletionLikely pathogenicrs1057517452GRCh38Chr 11, 108293396: 108293396
289ATMNM_ 000051.3(ATM): c.1192delG (p.Asp398Ilefs)deletionLikely pathogenicrs1057519330GRCh37Chr 11, 108119786: 108119786
290ATMNM_ 000051.3(ATM): c.4106C> A (p.Ser1369Ter)SNVPathogenicrs1057520640GRCh37Chr 11, 108158439: 108158439
291ATMNM_ 000051.3(ATM): c.7293_ 7294delAA (p.Lys2431Asnfs)deletionPathogenicrs1060501525GRCh38Chr 11, 108329224: 108329225
292ATMNM_ 000051.3(ATM): c.2554C> T (p.Gln852Ter)SNVPathogenicrs758081262GRCh38Chr 11, 108267258: 108267258
293ATMNM_ 000051.3(ATM): c.4036G> T (p.Glu1346Ter)SNVPathogenicrs1060501528GRCh38Chr 11, 108287642: 108287642
294ATMNM_ 000051.3(ATM): c.1514_ 1515delTT (p.Phe505Trpfs)deletionPathogenicrs1060501529GRCh38Chr 11, 108250979: 108250980
295ATMNM_ 000051.3(ATM): c.6658C> T (p.Gln2220Ter)SNVPathogenicrs1060501536GRCh38Chr 11, 108325395: 108325395
296ATMNM_ 000051.3(ATM): c.6729_ 6730delAA (p.Glu2245Metfs)deletionPathogenicrs1060501543GRCh38Chr 11, 108325466: 108325467
297ATMNM_ 000051.3(ATM): c.4330_ 4333delCTGTinsTAAAATAAA (p.Leu1444Terfs)indelPathogenicGRCh38Chr 11, 108289695: 108289698
298ATMNM_ 000051.3(ATM): c.7699_ 7702delAACA (p.Asn2567Glufs)deletionPathogenic/ Likely pathogenicrs1060501547GRCh38Chr 11, 108331948: 108331951
299ATMNM_ 000051.3(ATM): c.6080delT (p.Leu2027Tyrfs)deletionPathogenicrs1060501548GRCh38Chr 11, 108315896: 108315896
300ATMNM_ 000051.3(ATM): c.4318A> T (p.Lys1440Ter)SNVPathogenicrs1060501551GRCh37Chr 11, 108160410: 108160410
301ATMNM_ 000051.3(ATM): c.8319_ 8323dupTGTCC (p.Pro2775Leufs)duplicationPathogenicGRCh38Chr 11, 108343272: 108343276
302ATMNM_ 000051.3(ATM): c.6199-2A> TSNVLikely pathogenicrs1060501570GRCh38Chr 11, 108317371: 108317371
303ATMNM_ 000051.3(ATM): c.5681_ 5682delAG (p.Glu1894Alafs)deletionPathogenicrs1060501580GRCh38Chr 11, 108307903: 108307904
304ATMNM_ 000051.3(ATM): c.4522dupT (p.Tyr1508Leufs)duplicationPathogenicGRCh38Chr 11, 108292704: 108292704
305ATMNM_ 000051.3(ATM): c.3242_ 3245delATCA (p.Asn1081Ilefs)deletionPathogenicrs1060501587GRCh38Chr 11, 108272810: 108272813
306ATMNM_ 000051.3(ATM): c.3284+1G> CSNVLikely pathogenicrs864622129GRCh38Chr 11, 108272853: 108272853
307ATMNM_ 000051.3(ATM): c.1939G> T (p.Glu647Ter)SNVPathogenicrs1060501599GRCh38Chr 11, 108253854: 108253854
308ATMNM_ 000051.3(ATM): c.2985_ 2988delTCAT (p.His996Terfs)deletionPathogenicrs1060501600GRCh38Chr 11, 108271314: 108271317
309ATMNM_ 000051.3(ATM): c.2125-15_ 2128del19deletionLikely pathogenicGRCh38Chr 11, 108256200: 108256218
310ATMNM_ 000051.3(ATM): c.1212_ 1213delGA (p.Asn405Terfs)deletionPathogenicrs1060501609GRCh38Chr 11, 108249079: 108249080
311ATMNM_ 000051.3(ATM): c.1915_ 1916insT (p.Asp639Valfs)insertionPathogenicrs1060501610GRCh38Chr 11, 108253830: 108253831
312ATMNM_ 000051.3(ATM): c.4906C> T (p.Gln1636Ter)SNVPathogenicrs1060501627GRCh37Chr 11, 108165783: 108165783
313ATMNM_ 000051.3(ATM): c.8321_ 8322delTCinsA (p.Val2774Aspfs)indelPathogenicrs1060501630GRCh38Chr 11, 108343274: 108343275
314ATMNM_ 000051.3(ATM): c.1783_ 1802+91deldeletionLikely pathogenicGRCh38Chr 11, 108252012: 108252122
315ATMNM_ 000051.3(ATM): c.710delC (p.Thr237Ilefs)deletionPathogenicrs1060501642GRCh38Chr 11, 108244835: 108244835
316ATMNM_ 000051.3(ATM): c.2922-50_ 2940deldeletionLikely pathogenicGRCh38Chr 11, 108271201: 108271269
317ATMNM_ 000051.3(ATM): c.8880G> A (p.Trp2960Ter)SNVPathogenicrs1060501650GRCh38Chr 11, 108365111: 108365111
318ATMNM_ 000051.3(ATM): c.6463_ 6478dup16 (p.Lys2160Serfs)duplicationPathogenicGRCh38Chr 11, 108321311: 108321326
319ATMNM_ 000051.3(ATM): c.5870_ 5871delAT (p.Tyr1957Cysfs)deletionPathogenicrs1060501657GRCh38Chr 11, 108310267: 108310268
320ATMNM_ 000051.3(ATM): c.4800_ 4803delAAGT (p.Ser1601Phefs)deletionPathogenicrs1060501659GRCh38Chr 11, 108294950: 108294953
321ATMNM_ 000051.3(ATM): c.8435_ 8436delCT (p.Ser2812Phefs)deletionPathogenicrs1060501666GRCh38Chr 11, 108345759: 108345760
322ATMNM_ 000051.3(ATM): c.5249G> A (p.Trp1750Ter)SNVPathogenicrs1060501669GRCh38Chr 11, 108301719: 108301719
323ATMNM_ 000051.3(ATM): c.1446delA (p.Lys482Asnfs)deletionPathogenicrs1060501670GRCh38Chr 11, 108250911: 108250911
324ATMNM_ 000051.3(ATM): c.3450_ 3454delAAAAT (p.Arg1150Serfs)deletionPathogenicrs1060501676GRCh38Chr 11, 108281042: 108281046
325ATMNM_ 000051.3(ATM): c.3206delC (p.Pro1069Leufs)deletionPathogenicrs1060501677GRCh38Chr 11, 108272774: 108272774
326ATMNM_ 000051.3(ATM): c.2654_ 2656delTAGinsAA (p.Leu885Terfs)indelPathogenicrs1060501679GRCh38Chr 11, 108268425: 108268427
327ATMNM_ 000051.3(ATM): c.992delA (p.Lys331Serfs)deletionPathogenicrs1060501684GRCh38Chr 11, 108247054: 108247054
328ATMNM_ 000051.3(ATM): c.3214G> T (p.Glu1072Ter)SNVPathogenicrs1060501687GRCh38Chr 11, 108272782: 108272782
329ATMNM_ 000051.3(ATM): c.662+1G> ASNVLikely pathogenicrs1060501690GRCh38Chr 11, 108244119: 108244119
330ATMNM_ 000051.3(ATM): c.4110-1G> ASNVPathogenicrs1060501692GRCh38Chr 11, 108288976: 108288976
331ATMNM_ 000051.3(ATM): c.8585-2A> CSNVLikely pathogenicrs1060501700GRCh38Chr 11, 108347277: 108347277
332ATMNM_ 000051.3(ATM): c.1333delC (p.Gln445Asnfs)deletionPathogenicrs1060501701GRCh38Chr 11, 108250798: 108250798
333ATMNM_ 000051.3(ATM): c.2775delG (p.Lys926Asnfs)deletionPathogenicrs1060501702GRCh38Chr 11, 108268546: 108268546
334ATMNM_ 000051.3(ATM): c.2839-2A> GSNVLikely pathogenicrs1060501703GRCh38Chr 11, 108271062: 108271062
335ATMNM_ 000051.3(ATM): c.4910-1G> TSNVLikely pathogenicrs1060501706GRCh38Chr 11, 108297286: 108297286
336ATMNM_ 000051.3(ATM): c.6498_ 6499delGT (p.Tyr2167Phefs)deletionPathogenicrs1060501707GRCh38Chr 11, 108321346: 108321347
337ATMNM_ 000051.3(ATM): c.3320T> A (p.Leu1107Ter)SNVPathogenicrs1060501711GRCh38Chr 11, 108279526: 108279526
338ATMNM_ 000051.3(ATM): c.6272G> A (p.Trp2091Ter)SNVPathogenicrs1060501712GRCh38Chr 11, 108317446: 108317446
339ATMNM_ 000051.3(ATM): c.8418+2T> CSNVLikely pathogenicrs1060501713GRCh38Chr 11, 108343373: 108343373
340ATMNC_ 000011.10: g.(?_ 108325310)_ (108369099_ ?)deldeletionPathogenicGRCh38Chr 11, 108325310: 108369099
341ATMNC_ 000011.10: g.(?_ 108343222)_ (108369099_ ?)deldeletionPathogenicGRCh38Chr 11, 108343222: 108369099
342ATMNC_ 000011.10: g.(?_ 108292619)_ (108299885_ ?)deldeletionLikely pathogenicGRCh37Chr 11, 108163346: 108170612
343ATMNC_ 000011.10: g.(?_ 108243953)_ (108369099_ ?)deldeletionPathogenicGRCh38Chr 11, 108243953: 108369099
344ATMNC_ 000011.10: g.(?_ 108222832)_ (108369099_ ?)deldeletionPathogenicGRCh38Chr 11, 108222832: 108369099
345ATMNC_ 000011.10: g.(?_ 108297287)_ (108335961_ ?)deldeletionPathogenicGRCh38Chr 11, 108297287: 108335961
346ATMNC_ 000011.10: g.(?_ 108289602)_ (108289801_ ?)deldeletionPathogenicGRCh37Chr 11, 108160329: 108160528
347ATMNC_ 000011.10: g.(?_ 108327645)_ (108331557_ ?)deldeletionLikely pathogenicGRCh37Chr 11, 108198372: 108202284
348ATMNC_ 000011.10: g.(?_ 108280995)_ (108289801_ ?)deldeletionPathogenicGRCh37Chr 11, 108151722: 108160528
349ATMNM_ 000051.3(ATM): c.8418+1_ 8418+4delGTGAdeletionPathogenicrs1060499575GRCh38Chr 11, 108343372: 108343375
350ATMNM_ 000051.3(ATM): c.822delT (p.Leu275Terfs)deletionPathogenicrs1060499600GRCh38Chr 11, 108244947: 108244947
351ATMNM_ 000051.3(ATM): c.788delT (p.Tyr264Ilefs)deletionPathogenicrs1060499601GRCh38Chr 11, 108244913: 108244913
352ATMNM_ 000051.3(ATM): c.1221dup (p.Asp408Terfs)duplicationPathogenicGRCh38Chr 11, 108249088: 108249088

Expression for genes affiliated with Ataxia-Telangiectasia

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Search GEO for disease gene expression data for Ataxia-Telangiectasia.

Pathways for genes affiliated with Ataxia-Telangiectasia

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Pathways related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idSuper pathwaysScoreTop Affiliating Genes
110.0CHEK2, TP53
2
Show member pathways
9.8ATM, CHEK2, TP53
3
Show member pathways
9.8CDKN1A, TP53
49.8CDKN1A, TP53
5
Show member pathways
9.7MRE11, NBN, RAD50
69.7ATR, CHEK1
7
Show member pathways
9.7ATR, BRCA1, RPA2
8
Show member pathways
9.6ATM, MRE11, NBN, RAD50
99.6ATM, MRE11, NBN, RAD50
109.5ATM, BRCA1, CDKN1A
119.5BRCA1, CDKN1A, TP53
12
Show member pathways
9.5ATM, ATR, CDKN1A, TP53
139.5ATM, ATR, CDKN1A, TP53
149.4BRCA1, GADD45A, TP53
15
Show member pathways
9.3CDKN1A, GADD45A, TP53
169.3ATM, BRCA1, CDKN1A, TP53
179.2BRCA1, CDKN1A, GADD45A
18
Show member pathways
9.1ATM, CDKN1A, GADD45A, TP53
199.1ATM, ATR, BRCA1, RAD17, TP53
20
Show member pathways
9.0ATM, ATR, CHEK1, CHEK2, TP53
21
Show member pathways
9.0ATM, ATR, CHEK1, CHEK2, TP53
22
Show member pathways
9.0ATM, ATR, CHEK1, CHEK2, TP53
23
Show member pathways
8.9ATR, CHEK1, RAD17, RPA2
24
Show member pathways
8.9ATM, BRCA1, MRE11, NBN, RAD50, RPA2
25
Show member pathways
8.9BRCA1, CDKN1A, CHEK1, CHEK2
26
Show member pathways
8.8ATM, CDKN1A, GADD45A, RPA2, TP53
278.8ATM, CDKN1A, H2AFX, TP53
288.8BRCA1, DCLRE1C, MRE11, NBN, PRKDC, RAD50
298.6ATM, ATR, CDKN1A, CHEK1, CHEK2, TP53
308.6ATM, BRCA1, CHEK1, CHEK2, PRKDC, TP53
318.6ATM, ATR, BRCA1, CDKN1A, GADD45A, TP53
328.5ATM, ATR, BRCA1, MRE11, NBN, PRKDC
338.5CDKN1A, CHEK1, NPAT, PRKDC, RPA2, TP53
34
Show member pathways
8.1ATM, ATR, CDKN1A, CHEK1, CHEK2, GADD45A
35
Show member pathways
8.1ATM, CDKN1A, H2AFX, MRE11, NBN, RAD50
36
Show member pathways
7.9ATM, ATR, BRCA1, H2AFX, MRE11, NBN
37
Show member pathways
7.8ATM, ATR, CDKN1A, CHEK1, CHEK2, GADD45A
387.7ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
397.7ATM, ATR, CHEK1, CHEK2, GADD45A, H2AFX
40
Show member pathways
7.7ATM, ATR, BRCA1, CHEK1, MRE11, NBN
417.6ATM, ATR, BRCA1, CHEK1, CHEK2, GADD45A
42
Show member pathways
7.6ATM, ATR, CDKN1A, H2AFX, MRE11, NBN
437.5ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
44
Show member pathways
7.5ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
45
Show member pathways
7.4ATM, ATR, BRCA1, CHEK1, CHEK2, GADD45A
46
Show member pathways
7.4ATM, ATR, BRCA1, CHEK2, H2AFX, MRE11
47
Show member pathways
7.0ATM, BRCA1, CHEK2, DCLRE1C, H2AFX, MRE11
486.8ATM, ATR, CHEK1, CHEK2, DCLRE1C, H2AFX
49
Show member pathways
6.3ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
50
Show member pathways
6.0ATM, BRCA1, CDKN1A, CHEK1, CHEK2, GADD45A

GO Terms for genes affiliated with Ataxia-Telangiectasia

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Cellular components related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:007041910.7DCLRE1C, PRKDC
2Mre11 complexGO:003087010.6MRE11, NBN, RAD50
3nuclear bodyGO:001660410.0CDKN1A, RPA2, TP53, TP53BP1
4PML bodyGO:00166059.8ATR, CHEK2, MRE11, NBN, RPA2, TP53
5nucleolusGO:00057309.5APTX, CDKN1A, NBN, PRKDC, RAD17, TP53
6chromatinGO:00007859.3APTX, CHEK1, H2AFX, RPA2
7nuclear chromosome, telomeric regionGO:00007849.3ATM, ATR, DCLRE1C, MRE11, NBN, PRKDC
8condensed nuclear chromosomeGO:00007949.2BRCA1, CHEK1, H2AFX, RAD50
9nuclear chromatinGO:00007909.2APTX, H2AFX, RAD17, RAD50, TP53
10protein complexGO:00432349.1BRCA1, CDKN1A, CHEK1, PRKDC, TP53
11replication forkGO:00056579.0CHEK1, H2AFX, NBN, TP53
12chromosomeGO:00056948.9ATR, BRCA1, H2AFX, MRE11, NBN, RAD50
13site of double-strand breakGO:00358618.3H2AFX, MRE11, NBN, RAD50, RPA2, TP53BP1
14chromosome, telomeric regionGO:00007817.7ATM, CHEK1, CHEK2, H2AFX, MRE11, NBN
15nucleoplasmGO:00056544.8APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1
16nucleusGO:00056344.7APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1

Biological processes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idNameGO IDScoreTop Affiliating Genes
1establishment of macromolecular complex localization to telomereGO:009769510.9ATM, ATR
2establishment of RNA localization to telomereGO:009769410.9ATM, ATR
3determination of adult lifespanGO:000834010.8ATM, TP53
4positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.8ATM, ATR
5DNA damage response, signal transduction by p53 class mediatorGO:003033010.8NBN, TP53
6positive regulation of telomerase catalytic core complex assemblyGO:190488410.8ATM, ATR
7mitotic G2 DNA damage checkpointGO:000709510.8MRE11, NBN
8chromosome organization involved in meiotic cell cycleGO:007019210.8ATM, RAD50
9cellular response to X-rayGO:007148110.7ATM, TP53BP1
10mitotic G1 DNA damage checkpointGO:003157110.7RPA2, TP53
11regulation of mitotic recombinationGO:000001910.6MRE11, RAD50
12negative regulation of telomere cappingGO:190435410.5ATM, NBN, RAD50
13DNA duplex unwindingGO:003250810.5MRE11, NBN, RAD50
14regulation of cellular response to heatGO:190003410.5ATM, ATR, RPA2
15reciprocal meiotic recombinationGO:000713110.4ATM, MRE11, RAD50
16positive regulation of kinase activityGO:003367410.4MRE11, NBN, RAD50
17positive regulation of protein autophosphorylationGO:003195410.4MRE11, NBN, RAD50
18positive regulation of telomere maintenanceGO:003220610.4MRE11, NBN, RAD50
19interstrand cross-link repairGO:003629710.4ATR, DCLRE1C, RPA2
20signal transduction by p53 class mediatorGO:007233110.4CDKN1A, TP53
21peptidyl-serine phosphorylationGO:001810510.4ATM, ATR, CHEK2, PRKDC
22intrinsic apoptotic signaling pathwayGO:009719310.4CDKN1A, NBN, TP53
23intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.3CDKN1A, CHEK2, TP53
24response to gamma radiationGO:001033210.3CHEK2, PRKDC, TP53
25mitotic cell cycle arrestGO:007185010.3CDKN1A, GADD45A
26signal transduction in response to DNA damageGO:004277010.3CHEK2, GADD45A
27DNA damage induced protein phosphorylationGO:000697510.2ATM, CHEK1, CHEK2
28intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.2ATM, BRCA1, CHEK2, PRKDC
29regulation of double-strand break repair via homologous recombinationGO:001056910.2CHEK1, RPA2
30regulation of apoptotic processGO:004298110.1ATM, BRCA1, CHEK2, TP53
31cellular response to ionizing radiationGO:007147910.1CDKN1A, GADD45A, TP53
32telomere maintenance via telomeraseGO:000700410.1ATM, MRE11, RAD50
33nucleic acid phosphodiester bond hydrolysisGO:009030510.0APTX, DCLRE1C, MRE11, RAD50
34DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.0BRCA1, CDKN1A, CHEK2, TP53
35telomeric 3 overhang formationGO:003186010.0MRE11, NBN, RAD50
36positive regulation of reactive oxygen species metabolic processGO:200037910.0CDKN1A, GADD45A, TP53
37DNA double-strand break processingGO:000072910.0ATM, BRCA1, MRE11, NBN, RAD50
38DNA synthesis involved in DNA repairGO:000073110.0ATM, BRCA1, MRE11, NBN, RAD50
39mitotic cell cycle checkpointGO:00070939.9CHEK1, NBN, RAD17
40strand displacementGO:00007329.7ATM, BRCA1, MRE11, NBN, RAD50
41cell cycle arrestGO:00070509.7ATM, CDKN1A, GADD45A, NBN, TP53
42V(D)J recombinationGO:00331519.7ATM, DCLRE1C, PRKDC
43DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.7ATM, CDKN1A, CHEK2, GADD45A, TP53
44meiotic cell cycleGO:00513219.6H2AFX, MRE11, NBN, RAD50
45telomere maintenanceGO:00007239.5DCLRE1C, NBN, PRKDC, RAD50, RPA2
46phosphorylationGO:00163109.3ATM, ATR, CDKN1A, CHEK1, CHEK2, PRKDC
47replicative senescenceGO:00903999.2ATM, ATR, CDKN1A, CHEK1, CHEK2, TP53
48cellular response to gamma radiationGO:00714809.2ATM, ATR, CDKN1A, CHEK2, H2AFX, TP53
49response to ionizing radiationGO:00102129.0ATM, BRCA1, DCLRE1C, H2AFX, PRKDC
50double-strand break repair via homologous recombinationGO:00007248.8ATM, BRCA1, H2AFX, MRE11, NBN, RAD50

Molecular functions related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent protein kinase activityGO:000467710.9ATM, PRKDC
2ATP-dependent DNA helicase activityGO:000400310.6MRE11, NBN, RAD50
3p53 bindingGO:000203910.5TP53, TP53BP1, TRIM29
4single-stranded DNA endodeoxyribonuclease activityGO:000001410.2DCLRE1C, MRE11, RAD50
5protein kinase activityGO:00046729.7ATM, ATR, CHEK1, CHEK2, PRKDC
6protein serine/threonine kinase activityGO:00046749.6ATM, ATR, CHEK1, CHEK2, PRKDC
7kinase activityGO:00163019.4ATM, ATR, CDKN1A, CHEK1, CHEK2, PRKDC
8enzyme bindingGO:00198999.4BRCA1, H2AFX, PRKDC, RPA2, TP53
9nucleotide bindingGO:00001669.3ATM, ATR, CHEK1, CHEK2, RAD17, RAD50
10protein N-terminus bindingGO:00474859.2APTX, ATM, GADD45A, NBN, NPAT, RPA2
11ubiquitin protein ligase bindingGO:00316259.0BRCA1, CDKN1A, CHEK2, RPA2, TP53
12ATP bindingGO:00055248.9ATM, ATR, CHEK1, CHEK2, PRKDC, RAD17
13damaged DNA bindingGO:00036848.8APTX, BRCA1, DCLRE1C, H2AFX, NBN, RPA2
14DNA bindingGO:00036777.9APTX, ATM, ATR, BRCA1, H2AFX, MRE11
15protein bindingGO:00055154.5APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1

Sources for Ataxia-Telangiectasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet