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Ataxia Telangiectasia (D001260)
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Ataxia Telangiectasia Like Disorder (C565779)

       Child Nodes:



 Sister Nodes: 
..expandAtaxia Telangiectasia Like Disorder (C565779)
..expandAtaxia-Telangiectasia Variant (C566865)
..expandAtaxia-Telangiectasia Variant V2 (C565380)
..expandAtaxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1043
Name:Ataxia Telangiectasia Like Disorder
Definition:
Alternative IDs:OMIM:604391|OMIM:615919
ParentIDs:MESH:D001260
TreeNumbers:C10.228.140.252.190.530.060/C565779 |C10.562.100/C565779 |C10.597.350.090.500.530.060/C565779 |C14.907.823.213/C565779 |C16.320.080/C565779 |C18.452.284.060/C565779 |C20.673.290/C565779
Synonyms:ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 |ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 |ATLD |ATLD1 |ATLD2
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease
Reference: MedGen: C565779
MeSH: C565779
OMIM: 604391;
MSeqDR LSDB:  
Genes: MRE11A; PCNA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001272Cerebellar atrophy
3 HP:0002072Chorea
NAMDC:  Chorea
4 HP:0003693Distal amyotrophy
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0002075Dysdiadochokinesis
7 HP:0001332Dystonia
NAMDC:  Dystonia
8 HP:0002359Frequent falls
9 HP:0002066Gait ataxia
10 HP:0000640Gaze-evoked nystagmus
11 HP:0000571Hypometric saccades
12 HP:0001265Hyporeflexia
13 HP:0007772Impaired smooth pursuit
14 HP:0002061Lower limb spasticity
15 HP:0000657Oculomotor apraxia
16 HP:0003676Progressive
17 HP:0001009Telangiectasia
18 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005591.4(MRE11):c.*2704G>C4361MRE11Uncertain significancers1208748781RCV001112412; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415058794150587CG11:g.94150587C>G-
NM_005591.4(MRE11):c.*2703A>G4361MRE11Uncertain significancers766297244RCV000400768; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415058894150588TCNC_000011.9:g.94150588T>CClinGen:CA10635881C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2700C>T4361MRE11Uncertain significancers1945056665RCV001112413; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415059194150591GA11:g.94150591G>A-
NM_005591.4(MRE11):c.*2699A>T4361MRE11Benignrs13447760RCV000312170; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415059294150592TANC_000011.9:g.94150592T>AClinGen:CA10639657C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2662A>G4361MRE11Benignrs13447759RCV000369204; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415062994150629TCNC_000011.9:g.94150629T>CClinGen:CA10640484C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2658A>G4361MRE11Uncertain significancers566334031RCV001112414; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415063394150633TC11:g.94150633T>C-
NM_005591.4(MRE11):c.*2531A>T4361MRE11Uncertain significancers182128639RCV001113760; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415076094150760TA11:g.94150760T>A-
NM_005591.4(MRE11):c.*2501A>G4361MRE11Benignrs2155209RCV000276984|RCV001683237; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119415079094150790TC11:g.94150790T>CClinGen:CA10631721C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2466T>C4361MRE11Benignrs13447758RCV001113761; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415082594150825AG11:g.94150825A>G-
NM_005591.4(MRE11):c.*2452C>T4361MRE11Uncertain significancers574670712RCV000306318; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415083994150839GA11:g.94150839G>AClinGen:CA10635882C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2444A>G4361MRE11Likely benignrs369336016RCV000363439; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415084794150847TC11:g.94150847T>CClinGen:CA10635894C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2324G>T4361MRE11Uncertain significancers1289240828RCV001113762; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415096794150967CA11:g.94150967C>A-
NM_005591.4(MRE11):c.*2320T>C4361MRE11Uncertain significancers886048746RCV000271201; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415097194150971AG11:g.94150971A>GClinGen:CA10640485C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2296A>G4361MRE11Uncertain significancers886048747RCV000328625; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415099594150995TC11:g.94150995T>CClinGen:CA10640489C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2258G>C4361MRE11Uncertain significancers886048748RCV000376307; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415103394151033CG11:g.94151033C>GClinGen:CA10635895C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2178A>C4361MRE11Uncertain significancers886048749RCV000266016; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415111394151113TG11:g.94151113T>GClinGen:CA10639662C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2170A>T4361MRE11Uncertain significancers908126331RCV001109745; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415112194151121TA11:g.94151121T>A-
NM_005591.4(MRE11):c.*2106T>C4361MRE11Uncertain significancers886048750RCV000323360; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415118594151185AG11:g.94151185A>GClinGen:CA10631722C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2067A>G4361MRE11Benignrs13447755RCV000380273; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415122494151224TC11:g.94151224T>CClinGen:CA10639668C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2053T>C4361MRE11Benignrs13447754RCV001109746; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415123894151238AG11:g.94151238A>G-
NM_005591.4(MRE11):c.*1933G>T4361MRE11Uncertain significancers104895004RCV000114884|RCV000278815; NMedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415135894151358CANC_000011.9:g.94151358C>AClinGen:CA230741C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1900C>T4361MRE11Uncertain significancers1002764139RCV001109747; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415139194151391GA11:g.94151391G>A-
NM_005591.4(MRE11):c.*1776C>T4361MRE11Uncertain significancers104895005RCV000114885|RCV000336118; NMedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415151594151515GANC_000011.9:g.94151515G>AClinGen:CA230742C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1766G>C4361MRE11Benignrs13447752RCV000374444; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415152594151525CG11:g.94151525C>GClinGen:CA10631725C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1743dup4361MRE11Likely benignrs200848216RCV000282301; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415154794151548AAT11:g.94151547_94151548insTClinGen:CA10639673C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1704G>A4361MRE11Uncertain significancers986503335RCV001110533; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415158794151587CT11:g.94151587C>T-
NM_005591.4(MRE11):c.*1661A>C4361MRE11Uncertain significancers539061083RCV000348912; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415163094151630TG11:g.94151630T>GClinGen:CA10640492C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1554C>G4361MRE11Uncertain significancers886048751RCV000394643; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415173794151737GC11:g.94151737G>CClinGen:CA10631726C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1366G>A4361MRE11Uncertain significancers146641719RCV000314926; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415192594151925CT11:g.94151925C>TClinGen:CA10631732C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1304A>T4361MRE11Uncertain significancers562083257RCV000344106; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415198794151987TA11:g.94151987T>AClinGen:CA10635903C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1174C>T4361MRE11Uncertain significancers1406518680RCV001110534; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415211794152117GA11:g.94152117G>A-
NM_005591.4(MRE11):c.*1086A>G4361MRE11Uncertain significancers886048752RCV000399609; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415220594152205TC11:g.94152205T>CClinGen:CA10640497C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1083T>C4361MRE11Benignrs118070493RCV000309137; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415220894152208AG11:g.94152208A>GClinGen:CA10631734C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1082T>C4361MRE11Uncertain significancers1356639226RCV001112501; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415220994152209AG11:g.94152209A>G-
NM_005591.4(MRE11):c.*997A>G4361MRE11Likely benignrs149208652RCV000366112; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415229494152294TC11:g.94152294T>CClinGen:CA10640498C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*974C>G4361MRE11Uncertain significancers757790109RCV001112502; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415231794152317GC11:g.94152317G>C-
NM_005591.4(MRE11):c.*973A>G4361MRE11Uncertain significancers960070711RCV001112503; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415231894152318TC11:g.94152318T>C-
NM_005591.4(MRE11):c.*910dup4361MRE11Uncertain significancers886048753RCV000264388; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415238094152381CCA11:g.94152380_94152381insAClinGen:CA10639679C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*877A>G4361MRE11Uncertain significancers1945099852RCV001112504; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415241494152414TC11:g.94152414T>C-
NM_005591.4(MRE11):c.*848A>G4361MRE11Uncertain significancers13447750RCV000303200; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415244394152443TC11:g.94152443T>CClinGen:CA10635919C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*760G>A4361MRE11Uncertain significancers557683409RCV001113843; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415253194152531CT11:g.94152531C>T-
NM_005591.4(MRE11):c.*741A>G4361MRE11Uncertain significancers886048754RCV000359888; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415255094152550TC11:g.94152550T>CClinGen:CA10639694C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*740G>A4361MRE11Uncertain significancers1255215800RCV001113844; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415255194152551CT11:g.94152551C>T-
NM_005591.4(MRE11):c.*672G>A4361MRE11Uncertain significancers199653893RCV001113845; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415261994152619CT11:g.94152619C>T-
NM_005591.4(MRE11):c.*671C>T4361MRE11Uncertain significancers538218500RCV000267499; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415262094152620GANC_000011.9:g.94152620G>AClinGen:CA10635920C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*669C>G4361MRE11Uncertain significancers886048755RCV000315731; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415262294152622GCNC_000011.9:g.94152622G>CClinGen:CA10635921C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[16]4361MRE11Uncertain significancers201800515RCV000261725; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGANC_000011.9:g.94152632GA[16]ClinGen:CA10631735C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*659CT[7]CCC[1]4361MRE11Uncertain significancers373002609RCV000288194; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGGGAGAGAGAGAGAGANC_000011.9:g.94152632_94152633insGGAGAGAGAGAGAGAGClinGen:CA10635922C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[17]4361MRE11Uncertain significancers201800515RCV000319260; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGAGANC_000011.9:g.94152632GA[17]ClinGen:CA10635924C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[20]4361MRE11Uncertain significancers201800515RCV000293610; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGAGAGAGAGANC_000011.9:g.94152632GA[20]ClinGen:CA10635928C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*660C>T4361MRE11Uncertain significancers591959RCV000354141; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152631GANC_000011.9:g.94152631G>AClinGen:CA10639695C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*659CT[4]CCC[1]4361MRE11Uncertain significancers373002609RCV000332757; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGGGAGAGAGANC_000011.9:g.94152632_94152633insGGAGAGAGAGClinGen:CA10639699C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*659CT[6]CCC[1]4361MRE11Uncertain significancers373002609RCV000389620; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGGGAGAGAGAGAGANC_000011.9:g.94152632_94152633insGGAGAGAGAGAGAGClinGen:CA10639700C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[18]4361MRE11Uncertain significancers201800515RCV000385521; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263194152632GGGAGAGANC_000011.9:g.94152632GA[18]ClinGen:CA10640500C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[14]4361MRE11Uncertain significancers201800515RCV000345538; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263294152633GGAGNC_000011.9:g.94152632GA[14]ClinGen:CA10639702C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*658T>C4361MRE11Uncertain significancers11020777RCV001113846; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263394152633AG11:g.94152633A>G-
NM_005591.4(MRE11):c.*656T>C4361MRE11Uncertain significancers104895009RCV000114889|RCV001109824; NMedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415263594152635AGNC_000011.9:g.94152635A>GClinGen:CA230746CN517202 not provided;
NM_005591.4(MRE11):c.*628G>A4361MRE11Likely benignrs142407545RCV000398176; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415266394152663CTNC_000011.9:g.94152663C>TClinGen:CA10640502C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*593A>C4361MRE11Uncertain significancers909793927RCV001109825; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415269894152698TG11:g.94152698T>G-
NM_005591.4(MRE11):c.*570A>C4361MRE11Uncertain significancers397509346RCV000054454|RCV001109826; NMONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415272194152721TG11:g.94152721T>GClinGen:CA144579C0005684 109800 Bladder cancer, somatic;
NM_005591.4(MRE11):c.*511G>A4361MRE11Benignrs13447749RCV000291543; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415278094152780CTNC_000011.9:g.94152780C>TClinGen:CA10631739C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*447T>G4361MRE11Uncertain significancers886048757RCV000339644; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415284494152844ACNC_000011.9:g.94152844A>CClinGen:CA10635934C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*442A>G4361MRE11Benignrs1061956RCV000399980; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415284994152849TCNC_000011.9:g.94152849T>CClinGen:CA10639703C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*429A>G4361MRE11Uncertain significancers758803920RCV001109827; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415286294152862TC11:g.94152862T>C-
NM_005591.4(MRE11):c.*313G>A4361MRE11Uncertain significancers886048758RCV000304924; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415297894152978CTNC_000011.9:g.94152978C>TClinGen:CA10639704C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*193T>C4361MRE11Uncertain significancers1005817752RCV001110618; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415309894153098AG11:g.94153098A>G-
NM_005591.4(MRE11):c.*189G>A4361MRE11Likely benignrs151287483RCV000362011; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415310294153102CTNC_000011.9:g.94153102C>TClinGen:CA10640503C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*183G>A4361MRE11Benignrs13447745RCV000390025; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415310894153108CTNC_000011.9:g.94153108C>TClinGen:CA10640513C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NC_000011.10:g.(?_94420119)_(94437241_?)del4361MRE11Uncertain significance-1RCV000642472|RCV001351808; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119415328594170407nana-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
GRCh37/hg19 11q21(chr11:94153291-94170401)4361MRE11Pathogenic-1RCV001254035; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415329194170401nana-1-
NM_005591.4(MRE11):c.2099C>G (p.Thr700Ser)4361MRE11Uncertain significancers374685908RCV000218975|RCV000525528; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415331994153319GC11:g.94153319G>CClinGen:CA6234894C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2096A>G (p.Asn699Ser)4361MRE11Uncertain significancers876660153RCV000217632|RCV000693593; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415332294153322TC11:g.94153322T>CClinGen:CA10579351C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)4361MRE11Benignrs1805362RCV000117633|RCV000128960|RCV000410760|RCV000712325|RCV001080129; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119415332694153326TC11:g.94153326T>CClinGen:CA153719,UniProtKB:P49959#VAR_019289C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup)4361MRE11Uncertain significancers779409748RCV000166107|RCV000549395|RCV001292959; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415333294153333GGATC11:g.94153332_94153333insATCClinGen:CA195021C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2076T>A (p.Asp692Glu)4361MRE11Uncertain significancers778093337RCV000163872|RCV000524528|RCV001110619; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119415334294153342AT11:g.94153342A>TClinGen:CA189398C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2071-53G>T4361MRE11Benign/Likely benignrs13447742RCV000209483|RCV000411487|RCV001546456; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119415340094153400CA11:g.94153400C>AClinGen:CA351048C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2070+14A>C4361MRE11Conflicting interpretations of pathogenicityrs369127675RCV000409860; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119416306394163063TGNC_000011.9:g.94163063T>GClinGen:CA6234906C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu)4361MRE11Uncertain significancers587782166RCV000130759|RCV000410737|RCV001034669|RCV001753515; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119416310594163105GA11:g.94163105G>AClinGen:CA167057C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2033G>A (p.Ser678Asn)4361MRE11Uncertain significancers781684108RCV000565796|RCV000642447; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119416311494163114CTNC_000011.9:g.94163114C>TClinGen:CA6234914C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2023A>T (p.Met675Leu)4361MRE11Uncertain significancers756418071RCV000570333|RCV000642446; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119416312494163124TANC_000011.9:g.94163124T>AClinGen:CA382373527C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1994+10G>A4361MRE11Benignrs1805366RCV000298889|RCV000586722|RCV001079590|RCV001289102; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374119416898894168988CT11:g.94168988C>TClinGen:CA349887C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)4361MRE11Conflicting interpretations of pathogenicityrs587781442RCV000129354|RCV000642448|RCV001034650|RCV001795249; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119416901294169013TTGAAGTGGTAGGAAAAATGTC11:g.94169012_94169013insGAAGTGGTAGGAAAAATGTCClinGen:CA333185C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1927-1G>T4361MRE11Likely pathogenicrs1295485913RCV000564266|RCV000662872; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119416906694169066CANC_000011.9:g.94169066C>AClinGen:CA382374166C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1927-2A>G4361MRE11Likely pathogenicrs587781822RCV000130102|RCV000988623|RCV001376961; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119416906794169067TC11:g.94169067T>CClinGen:CA165710C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)4361MRE11Pathogenicrs137852759RCV000009327|RCV000565698|RCV001034660; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119417037294170372GA11:g.94170372G>AClinGen:CA119918,OMIM:600814.0001C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1892C>G (p.Pro631Arg)4361MRE11Uncertain significancers1555002427RCV000566558|RCV000642457; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119417037794170377GC11:g.94170377G>CClinGen:CA382374782C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1875A>C (p.Lys625Asn)4361MRE11Uncertain significancers907660509RCV000559364|RCV001013491; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119417039494170394TG11:g.94170394T>GClinGen:CA382374902C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1868-4C>A4361MRE11Conflicting interpretations of pathogenicityrs768257868RCV000356327|RCV001013455; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119417040594170405GTNC_000011.9:g.94170405G>TClinGen:CA10640514C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1868-5T>C4361MRE11Uncertain significancers773911334RCV001013456|RCV001788397; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119417040694170406AG11:g.94170406A>G-
NM_005591.4(MRE11):c.1867+2T>C4361MRE11Likely pathogenicrs745677716RCV000166874|RCV001378979|RCV001781515; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119417897494178974AG11:g.94178974A>GClinGen:CA196923C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1858A>G (p.Ile620Val)4361MRE11Uncertain significancers144070976RCV000131613|RCV000263891|RCV001065906; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119417898594178985TC11:g.94178985T>CClinGen:CA168456C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1853T>G (p.Met618Arg)4361MRE11Uncertain significancers748933763RCV000216532|RCV000330635|RCV001324948; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119417899094178990AC11:g.94178990A>CClinGen:CA6234979C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1852A>G (p.Met618Val)4361MRE11Uncertain significancers375630981RCV000131401|RCV000508182|RCV000705159; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119417899194178991TCNC_000011.9:g.94178991T>CClinGen:CA168105C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)4361MRE11Uncertain significancers148637964RCV000115911|RCV000212572|RCV000411847|RCV000791355|RCV001778710; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374119417903294179032CTNC_000011.9:g.94179032C>TClinGen:CA331837C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1801A>C (p.Thr601Pro)4361MRE11Uncertain significancers1565211523RCV000692506|RCV001013229; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119417904294179042TGNC_000011.9:g.94179042T>G-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)4361MRE11Conflicting interpretations of pathogenicityrs145415033RCV000131661|RCV000731881|RCV000781549|RCV001112603|RCV001081514; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119417904594179045CG11:g.94179045C>GClinGen:CA333269C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1784-6T>C4361MRE11Likely benignrs978608099RCV000529272; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119417906594179065AGNC_000011.9:g.94179065A>GClinGen:CA226523792C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1783+10G>C4361MRE11Conflicting interpretations of pathogenicityrs864622589RCV000204790|RCV001112604|RCV001408988; NMedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119418037594180375CG11:g.94180375C>GClinGen:CA348985C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1783+7A>G4361MRE11Conflicting interpretations of pathogenicityrs774520952RCV000368990|RCV000708710|RCV000859063; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119418037894180378TCNC_000011.9:g.94180378T>CClinGen:CA350748C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1783+5G>C4361MRE11Conflicting interpretations of pathogenicityrs142082313RCV000115910|RCV000589610|RCV001080166|RCV001287216; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418038094180380CGNC_000011.9:g.94180380C>GClinGen:CA331836C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly)4361MRE11Benign/Likely benignrs576878377RCV000130116|RCV000248684|RCV000524522|RCV001112605; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418038894180388TC11:g.94180388T>CClinGen:CA333213C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1762G>A (p.Gly588Arg)4361MRE11Uncertain significancers1555005282RCV000571122|RCV000642450; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418040694180406CTNC_000011.9:g.94180406C>TClinGen:CA382368097C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1758G>A (p.Ser586=)4361MRE11Conflicting interpretations of pathogenicityrs766372720RCV000166497|RCV000276910|RCV000874586; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119418041094180410CT11:g.94180410C>TClinGen:CA196027C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr)4361MRE11Uncertain significancers754790440RCV000572406|RCV000642459; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418041594180415CT11:g.94180415C>TClinGen:CA6235006C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu)4361MRE11Uncertain significancers757916109RCV000203835|RCV000627774; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418043294180432CT11:g.94180432C>TClinGen:CA348130C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1732G>T (p.Gly578Cys)4361MRE11Uncertain significancers547793891RCV000552919; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418043694180436CANC_000011.9:g.94180436C>AClinGen:CA382368204C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)4361MRE11Pathogenicrs774277300RCV000163701|RCV000627764|RCV001034648|RCV001531122|RCV001651033; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202|Human Phenotype Ontology:HP:0100273,MONDO:MONDO:0005401,Me119418044294180442GA11:g.94180442G>AClinGen:CA333838C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1724G>T (p.Gly575Val)4361MRE11Uncertain significancers376555330RCV000130046|RCV000684770|RCV000712324|RCV001113938; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418044494180444CA11:g.94180444C>AClinGen:CA333210C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu)4361MRE11Uncertain significancers587781461RCV000129396|RCV000588212|RCV000627770; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418045094180450CT11:g.94180450C>TClinGen:CA333194C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)4361MRE11Pathogenic/Likely pathogenicrs137852761RCV000009329|RCV000130661|RCV000791361|RCV001531123; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119418045494180454GA11:g.94180454G>AClinGen:CA119923,OMIM:600814.0003C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)4361MRE11Conflicting interpretations of pathogenicityrs144896235RCV000131531|RCV000515229|RCV000994695|RCV000791406; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119418050194180501TC11:g.94180501T>CClinGen:CA333255C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)4361MRE11Conflicting interpretations of pathogenicityrs373522639RCV000131733|RCV000518010|RCV000627772|RCV001113939; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418052594180525AG11:g.94180525A>GClinGen:CA333272C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys)4361MRE11Uncertain significancers773275841RCV000164850|RCV000411963|RCV001209800; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119418059494180594CT11:g.94180594C>TClinGen:CA191919C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1571C>G (p.Thr524Ser)4361MRE11Uncertain significancers876659237RCV000217915|RCV000699096; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418059794180597GC11:g.94180597G>CClinGen:CA10579372C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1500+1153_1563+1027del4361MRE11Likely pathogenic-1RCV000791290; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418841594191421GTCTCCTCATTTATAAAATGGGCACCTAGGAAAAATAATTCAATAAATATCTTCCTTACACAAATGTCTCTTATCTACTAAATTGAGAAAATCTTGTGGCTACAGACCTCG11:g.94188415_94188513del-
NM_005591.4(MRE11):c.1563+1G>A4361MRE11Likely pathogenic-1RCV001378466|RCV001780287; NMONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418944194189441CT94189441-
NM_005591.4(MRE11):c.1563G>A (p.Glu521=)4361MRE11Uncertain significancers779250359RCV000229465|RCV001012138; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119418944294189442CT11:g.94189442C>TClinGen:CA6235041C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1552dup (p.Glu518fs)4361MRE11Pathogenic-1RCV001784676; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418945294189453TTC94189452-
NM_005591.4(MRE11):c.1551T>G (p.Asp517Glu)4361MRE11Uncertain significancers1555008221RCV000538898; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418945494189454ACNC_000011.9:g.94189454A>CClinGen:CA382370690C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1545A>G (p.Glu515=)4361MRE11Conflicting interpretations of pathogenicityrs886048759RCV000324914|RCV001468244; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119418946094189460TCNC_000011.9:g.94189460T>CClinGen:CA10640515C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)4361MRE11Conflicting interpretations of pathogenicityrs587781384RCV000129216|RCV000513255|RCV000797374|RCV000988624; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418948994189489CA11:g.94189489C>AClinGen:CA163970C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1507C>T (p.Arg503Cys)4361MRE11Uncertain significancers761458720RCV000215319|RCV000807720|RCV000994696|RCV001762485; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418949894189498GA11:g.94189498G>AClinGen:CA6235053C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)4361MRE11Conflicting interpretations of pathogenicityrs186333183RCV000131015|RCV000381943|RCV000791405|RCV001731391|RCV001579337; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374|MedGen:CN517202119418950194189501GA11:g.94189501G>AClinGen:CA333235C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1501-8T>G4361MRE11Uncertain significancers753131403RCV000526465; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119418951294189512AC11:g.94189512A>CClinGen:CA600840053C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1500+2T>A4361MRE11Likely pathogenic-1RCV001782455; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419257294192572AT94192572-
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val)4361MRE11Uncertain significancers786203159RCV000166346|RCV000765025|RCV001034668; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419257594192575TA11:g.94192575T>AClinGen:CA195620C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)4361MRE11Conflicting interpretations of pathogenicityrs199634245RCV000163694|RCV000663118|RCV000859203; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419258394192583GA11:g.94192583G>AClinGen:CA333835C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)4361MRE11Conflicting interpretations of pathogenicityrs104895016RCV000114896|RCV000131601|RCV000524518|RCV000791398|RCV000781546; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374119419259494192594CTNC_000011.9:g.94192594C>TClinGen:CA230753C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg)4361MRE11Uncertain significancers786203158RCV000166345|RCV000765026|RCV001034667; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419259694192596AC11:g.94192596A>CClinGen:CA195617C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)4361MRE11Conflicting interpretations of pathogenicityrs61749249RCV000114897|RCV000115907|RCV000193395|RCV000524517|RCV001079570; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419259994192599GTNC_000011.9:g.94192599G>TClinGen:CA206852C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1463G>A (p.Arg488His)4361MRE11Uncertain significancers145377856RCV000163173|RCV000289892|RCV000791399; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419261194192611CT11:g.94192611C>TClinGen:CA187648C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1462C>G (p.Arg488Gly)4361MRE11Uncertain significancers375261439RCV000167193|RCV000518797|RCV000627771; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419261294192612GC11:g.94192612G>CClinGen:CA197710C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1456A>G (p.Lys486Glu)4361MRE11Uncertain significancers767896176RCV000568897|RCV001335298; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419261894192618TC11:g.94192618T>CClinGen:CA6235077C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1448G>A (p.Arg483Gln)4361MRE11Uncertain significancers587781378RCV000129201|RCV000689620; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419262694192626CT11:g.94192626C>TClinGen:CA163950C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1443A>C (p.Thr481=)4361MRE11Likely benignrs375077574RCV000642468; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419263194192631TGNC_000011.9:g.94192631T>GClinGen:CA226529189C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)4361MRE11Pathogenicrs137852762RCV000009330; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419263294192632GT11:g.94192632G>TClinGen:CA119927,OMIM:600814.0004C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1420G>A (p.Val474Met)4361MRE11Uncertain significancers778781414RCV000537357|RCV001011506|RCV001201393; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419265494192654CTNC_000011.9:g.94192654C>TClinGen:CA382371853C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1404T>C (p.Asp468=)4361MRE11Conflicting interpretations of pathogenicityrs368144567RCV000166278|RCV000328552|RCV000859124|RCV001087058; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419267094192670AG11:g.94192670A>GClinGen:CA195441C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1369G>A (p.Ala457Thr)4361MRE11Uncertain significancers1555009409RCV000642464; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419270594192705CTNC_000011.9:g.94192705C>TClinGen:CA382371971C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg)4361MRE11Uncertain significancers371730091RCV000131699|RCV000765027|RCV000992324; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119419274094192740TC11:g.94192740T>CClinGen:CA168621C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1327-9A>T4361MRE11Uncertain significancers766573839RCV000642449; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419275694192756TANC_000011.9:g.94192756T>AClinGen:CA658797715C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser)4361MRE11Uncertain significancers773469981RCV000572732|RCV000765028|RCV001343633; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419411094194110CANC_000011.9:g.94194110C>AClinGen:CA6235106C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1281A>T (p.Leu427Phe)4361MRE11Uncertain significancers1555009888RCV000575296|RCV000687013; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419414794194147TANC_000011.9:g.94194147T>AClinGen:CA382372366C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1280T>C (p.Leu427Ser)4361MRE11Uncertain significancers786203449RCV000166758|RCV000684813; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419414894194148AG11:g.94194148A>GClinGen:CA196660C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1275A>C (p.Thr425=)4361MRE11Conflicting interpretations of pathogenicityrs749712745RCV000162504|RCV001109911|RCV000869548|RCV001401844; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419415394194153TG11:g.94194153T>GClinGen:CA186376C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1274C>A (p.Thr425Lys)4361MRE11Uncertain significancers777730625RCV000563788|RCV001764639; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419415494194154GT11:g.94194154G>TClinGen:CA382372379C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1268A>C (p.Glu423Ala)4361MRE11Uncertain significancers1565221498RCV000702584|RCV001010664; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119419416094194160TGNC_000011.9:g.94194160T>G-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1261C>T (p.Pro421Ser)4361MRE11Uncertain significancers1398359004RCV000697220; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419416794194167GANC_000011.9:g.94194167G>A-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu)4361MRE11Uncertain significancers1946400969RCV001109912; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419418494194184CT11:g.94194184C>T-
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser)4361MRE11Uncertain significancers587782457RCV000131542|RCV000376230|RCV001289101; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119419419094194190TC11:g.94194190T>CClinGen:CA168323C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1233G>A (p.Glu411=)4361MRE11Conflicting interpretations of pathogenicityrs748756180RCV000221037|RCV001109913|RCV001469622; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419419594194195CT11:g.94194195C>TClinGen:CA6235118C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1226-5T>C4361MRE11Conflicting interpretations of pathogenicityrs1555009952RCV000663303|RCV001010426; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119419420794194207AG11:g.94194207A>G-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1225+19T>C4361MRE11Benignrs641936RCV000174111|RCV000412379|RCV000586234; NMedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119419726094197260AG11:g.94197260A>GClinGen:CA200836C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1225+10T>G4361MRE11Uncertain significancers863224734RCV000200713|RCV000281306; NMONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419726994197269ACNC_000011.9:g.94197269A>CClinGen:CA339507C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1225+2T>C4361MRE11Likely pathogenicrs145058858RCV001010421|RCV001784556; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419727794197277AG11:g.94197277A>G-
NM_005591.4(MRE11):c.1195T>A (p.Phe399Ile)4361MRE11Uncertain significancers904951211RCV000642463; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419730994197309ATNC_000011.9:g.94197309A>TClinGen:CA382372744C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1187T>C (p.Ile396Thr)4361MRE11Uncertain significancers1555010863RCV000542849|RCV001010221; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119419731794197317AGNC_000011.9:g.94197317A>GClinGen:CA382372769C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu)4361MRE11Uncertain significancers1591680946RCV000985223; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419733894197338AT11:g.94197338A>T-
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln)4361MRE11Uncertain significancers587780134RCV000115903|RCV000212567|RCV000791404|RCV000765029; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119419734194197341CTNC_000011.9:g.94197341C>TClinGen:CA331827C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1145G>C (p.Ser382Thr)4361MRE11Uncertain significancers745769023RCV000214375|RCV000765030|RCV001302309; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419735994197359CG11:g.94197359C>GClinGen:CA6235140C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1112dup (p.Gly372fs)4361MRE11Pathogenic/Likely pathogenicrs1591681273RCV000995583|RCV001205827; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119419739194197392TTC11:g.94197391_94197392insC-
NM_005591.4(MRE11):c.1098+17T>C4361MRE11Benignrs1805365RCV000128913|RCV000251662|RCV000409241|RCV000587873; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119420096294200962AG11:g.94200962A>GClinGen:CA163536C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1097G>A (p.Arg366Gln)4361MRE11Uncertain significancers773968042RCV000163072|RCV000529843; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420098094200980CT11:g.94200980C>TClinGen:CA187379C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1091G>T (p.Arg364Leu)4361MRE11Uncertain significancers140528613RCV000553816|RCV001017252; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119420098694200986CA11:g.94200986C>AClinGen:CA226531033C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)4361MRE11Pathogenicrs371077728RCV000129234|RCV000662680|RCV000791403|RCV001092185; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119420098794200987GA11:g.94200987G>AClinGen:CA333173C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1084C>G (p.Leu362Val)4361MRE11Uncertain significancers1565226205RCV001110706; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420099394200993GC11:g.94200993G>C-
NM_005591.4(MRE11):c.1074A>G (p.Pro358=)4361MRE11Conflicting interpretations of pathogenicityrs876659934RCV000225827|RCV000524509|RCV001762492; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420100394201003TC11:g.94201003T>CClinGen:CA10579392C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1073C>A (p.Pro358Gln)4361MRE11Uncertain significancers1430351329RCV000570353|RCV000698897; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420100494201004GT11:g.94201004G>TClinGen:CA382373715C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys)4361MRE11Uncertain significancers757492041RCV000164530|RCV000336333|RCV000791423|RCV000994697; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119420102694201026GA11:g.94201026G>AClinGen:CA191193C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1047_1048del (p.Glu350fs)4361MRE11Pathogenic/Likely pathogenicrs1591688367RCV000817556|RCV001766724; NMONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420102994201030TCCT11:g.94201029_94201030del-
NM_005591.4(MRE11):c.1045C>T (p.Arg349Trp)4361MRE11Uncertain significancers570102851RCV000223190|RCV000763777|RCV001064569; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420103294201032GA11:g.94201032G>AClinGen:CA10579393C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1036A>G (p.Asn346Asp)4361MRE11Uncertain significancers756040379RCV000705835|RCV001017091; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119420104194201041TC11:g.94201041T>C-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1032T>G (p.Leu344=)4361MRE11Benignrs11020793RCV000129049|RCV000212565|RCV000410736|RCV000586471|RCV001081395; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420104594201045AC11:g.94201045A>CClinGen:CA333159C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1018del (p.Ile340fs)4361MRE11Pathogenic-1RCV001784674; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420105994201059ATA94201058-
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)4361MRE11Pathogenic/Likely pathogenicrs984874083RCV000516990|RCV000561055|RCV001783013; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420363994203639TA11:g.94203639T>AClinGen:CA226531412C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)4361MRE11Benignrs115244417RCV000129222|RCV000396813|RCV000589426|RCV001080118|RCV001289100; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374119420365294203652GC11:g.94203652G>CClinGen:CA163993C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.981A>G (p.Lys327=)4361MRE11Uncertain significancers587782569RCV000131792|RCV001110707; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420367394203673TC11:g.94203673T>CClinGen:CA168765C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.969A>G (p.Pro323=)4361MRE11Benign/Likely benignrs13447633RCV000160574|RCV000212564|RCV000409014|RCV000712329|RCV001083858; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420368594203685TCNC_000011.9:g.94203685T>CClinGen:CA333741C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.958A>C (p.Ile320Leu)4361MRE11Uncertain significancers762210984RCV000524955|RCV000567044; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119420369694203696TGNC_000011.9:g.94203696T>GClinGen:CA6235254C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.942A>G (p.Leu314=)4361MRE11Likely benignrs1555012700RCV000561774|RCV000642469; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420371294203712TC11:g.94203712T>CClinGen:CA476283913C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.940C>T (p.Leu314=)4361MRE11Conflicting interpretations of pathogenicityrs368362407RCV000163491|RCV000867432|RCV001110708; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420371494203714GA11:g.94203714G>AClinGen:CA188436C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.914G>A (p.Arg305Gln)4361MRE11Uncertain significancers752483206RCV000287129|RCV001018917|RCV001217476; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420374094203740CTNC_000011.9:g.94203740C>TClinGen:CA6235263C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.880A>G (p.Met294Val)4361MRE11Uncertain significancers786202636RCV000165543|RCV000684772; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420377494203774TC11:g.94203774T>CClinGen:CA193648C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.863G>A (p.Arg288His)4361MRE11Uncertain significancers190142346RCV000226663|RCV000524540; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420379194203791CT11:g.94203791C>TClinGen:CA6235274C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.848A>G (p.His283Arg)4361MRE11Uncertain significancers142727857RCV000342005|RCV000570707|RCV000813667; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420380694203806TCNC_000011.9:g.94203806T>CClinGen:CA6235277C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.845+11T>C4361MRE11Benign/Likely benignrs140145979RCV000160573|RCV000411280; NMedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420472994204729AGNC_000011.9:g.94204729A>GClinGen:CA299294C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro)4361MRE11Uncertain significancers147383852RCV000563733|RCV000688223; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420475094204750CG11:g.94204750C>GClinGen:CA382375468C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.822T>C (p.Leu274=)4361MRE11Conflicting interpretations of pathogenicityrs137868143RCV000160572|RCV000212561|RCV000396829|RCV001079572|RCV001531124; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119420476394204763AGNC_000011.9:g.94204763A>GClinGen:CA333738C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)4361MRE11Pathogenic/Likely pathogenicrs1565228898RCV000995807|RCV001201787; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420476494204765AAGA11:g.94204764_94204765del-
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)4361MRE11Uncertain significancers143400546RCV000115923|RCV000212562|RCV000415455|RCV000524539|RCV000791444; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO119420476794204767GCNC_000011.9:g.94204767G>CClinGen:CA331849C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.777G>A (p.Gln259=)4361MRE11Conflicting interpretations of pathogenicityrs774144789RCV000163750|RCV000524538|RCV001112689; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420480894204808CT11:g.94204808C>TClinGen:CA189101C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.771A>G (p.Glu257=)4361MRE11Benign/Likely benignrs13447632RCV000160571|RCV000212560|RCV000586751|RCV001080782|RCV001112690; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420481494204814TCNC_000011.9:g.94204814T>CClinGen:CA333735C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.758C>T (p.Pro253Leu)4361MRE11Uncertain significancers587782051RCV000130519|RCV000524536; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420482794204827GA11:g.94204827G>AClinGen:CA166578C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.739dup (p.His247fs)4361MRE11Pathogenicrs786203931RCV000167449|RCV000557146; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420484594204846TTG11:g.94204845_94204846insGClinGen:CA198343C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.677C>G (p.Thr226Ser)4361MRE11Uncertain significancers201276188RCV000471053|RCV001025635; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119420490894204908GCNC_000011.9:g.94204908G>CClinGen:CA6235316C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NC_000011.10:g.(?_94476279)_(94479771_?)del4361MRE11Likely pathogenic-1RCV000707895|RCV001378464; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420944594212937nana-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NC_000011.9:g.(?_94209449)_(94212048_?)dup4361MRE11Likely pathogenic-1RCV000528294|RCV001379841; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420944994212048nana-1-
NM_005591.4(MRE11):c.659+1G>A4361MRE11Pathogenic/Likely pathogenicrs759130031RCV000217276|RCV000410656|RCV000812799; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420945494209454CT11:g.94209454C>TClinGen:CA6235344C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.640T>C (p.Phe214Leu)4361MRE11Uncertain significancers750929369RCV000166584|RCV000524534|RCV001201366; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119420947494209474AG11:g.94209474A>GClinGen:CA333908C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)4361MRE11Pathogenicrs137852763RCV000009331|RCV000712327; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119420948494209484CG11:g.94209484C>GClinGen:CA119930,OMIM:600814.0005C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.626C>T (p.Ser209Phe)4361MRE11Uncertain significancers1555014479RCV000558478; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420948894209488GA11:g.94209488G>AClinGen:CA382376671C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.597A>G (p.Thr199=)4361MRE11Likely benignrs1555014527RCV000642467|RCV001024738; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119420951794209517TCNC_000011.9:g.94209517T>CClinGen:CA476286765C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.592del (p.Lys197_Val198insTer)4361MRE11Likely pathogenic-1RCV001782456; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420952294209522ACA94209521-
NM_005591.4(MRE11):c.585T>C (p.Asn195=)4361MRE11Uncertain significancers886048760RCV000302157; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420952994209529AGNC_000011.9:g.94209529A>GClinGen:CA10635935C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)4361MRE11Pathogenicrs1157413766RCV001024452|RCV001037663|RCV001554263|RCV001784562; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|Human Phenotype Ontology:HP:0030409,MedGen:C1319314|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420954394209543GA11:g.94209543G>A-
NM_005591.4(MRE11):c.545-13A>G4361MRE11Uncertain significancers370306271RCV000366150; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119420958294209582TC11:g.94209582T>CClinGen:CA6235360C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)4361MRE11Conflicting interpretations of pathogenicityrs142996063RCV000115919|RCV000212559|RCV000400887|RCV000656867|RCV000791435; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421191694211916CTNC_000011.9:g.94211916C>TClinGen:CA331846C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.526A>G (p.Ile176Val)4361MRE11Uncertain significancers587781676RCV000129836|RCV000686078; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421191994211919TC11:g.94211919T>CClinGen:CA165176C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.508C>A (p.Gln170Lys)4361MRE11Uncertain significancers587782030RCV000308108|RCV000572619; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119421193794211937GT11:g.94211937G>TClinGen:CA6235382C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.426C>T (p.Asp142=)4361MRE11Conflicting interpretations of pathogenicityrs3218740RCV000160570|RCV000362540|RCV000212554|RCV000755569|RCV001079573; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421201994212019GANC_000011.9:g.94212019G>AClinGen:CA333732C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.403-2A>T4361MRE11Pathogenic-1RCV001784675; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421204494212044TA94212044-
NM_005591.4(MRE11):c.403-6G>A4361MRE11Benignrs535801RCV000117634|RCV000277270|RCV000590098|RCV001081363; NMedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421204894212048CT11:g.94212048C>TClinGen:CA153722C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.402+1G>A4361MRE11Likely pathogenicrs929767929RCV001021683|RCV001784559; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421283994212839CT11:g.94212839C>T-
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)4361MRE11Uncertain significancers368403414RCV000130877|RCV000642460|RCV000781547|RCV000994699|RCV001292914; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421285194212851CT11:g.94212851C>TClinGen:CA167297C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.391G>T (p.Asp131Tyr)4361MRE11Uncertain significancers368403414RCV000642445|RCV000992328; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119421285194212851CA11:g.94212851C>AClinGen:CA382378276C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.365T>G (p.Val122Gly)4361MRE11Uncertain significancers1565234530RCV000688091; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421287794212877AC11:g.94212877A>C-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)4361MRE11Conflicting interpretations of pathogenicityrs137852760RCV000009328|RCV000115917|RCV000212557|RCV001034646; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421289294212892TC11:g.94212892T>COMIM:600814.0002,ClinGen:CA119921,UniProtKB:P49959#VAR_008513C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.337G>A (p.Asp113Asn)4361MRE11Uncertain significancers876659042RCV000218270|RCV000692293; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421290594212905CT11:g.94212905C>TClinGen:CA10579414C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.331T>G (p.Tyr111Asp)4361MRE11Uncertain significancers1555015455RCV000642462; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421291194212911AC11:g.94212911A>CClinGen:CA382378616C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.315-14dup4361MRE11Benign/Likely benignrs35062043RCV000162501|RCV000410959|RCV000588749|RCV001081372|RCV001288239; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374119421293094212931TTA11:g.94212930_94212931insAClinGen:CA333820C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.315-4del4361MRE11Benign/Likely benignrs35062043RCV000128995|RCV000411119|RCV000589770|RCV001084852; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421293194212931TAT11:g.94212931_94212931delClinGen:CA163625C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.314+6T>C4361MRE11Uncertain significancers864622413RCV000205309|RCV000408997|RCV001296095; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421908494219084AG11:g.94219084A>GClinGen:CA349468C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.302T>A (p.Phe101Tyr)4361MRE11Uncertain significancers1555017179RCV000642454; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421910294219102ATNC_000011.9:g.94219102A>TClinGen:CA382379404C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys)4361MRE11Uncertain significancers587780139RCV000115915|RCV000656866|RCV000684785|RCV000791353; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421913094219130CT11:g.94219130C>TClinGen:CA288174C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.231G>T (p.Glu77Asp)4361MRE11Uncertain significancers755553376RCV000703172; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421917394219173CA11:g.94219173C>A-C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.218A>G (p.His73Arg)4361MRE11Uncertain significancers769313864RCV000165886|RCV001114037|RCV001315516; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119421918694219186TC11:g.94219186T>CClinGen:CA194438C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.202T>C (p.Ser68Pro)4361MRE11Uncertain significancers1555017253RCV000528706; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421920294219202AGNC_000011.9:g.94219202A>GClinGen:CA382379739C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.193A>G (p.Asn65Asp)4361MRE11not providedrs1947135355RCV001249418; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421921194219211TC11:g.94219211T>C-
NM_005591.4(MRE11):c.154-11C>G4361MRE11Uncertain significancers751354326RCV001114038; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119421926194219261GC11:g.94219261G>C-
NM_005591.4(MRE11):c.140C>T (p.Ala47Val)4361MRE11Uncertain significancers730880378RCV000157663|RCV001011397; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119422401294224012GA11:g.94224012G>AClinGen:CA185954,OMIM:600814.0006C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.123_125del (p.Asp41del)4361MRE11Uncertain significancers1555018284RCV000642453; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422402794224029TTCAT11:g.94224027_94224029delClinGen:CA658797716C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu)4361MRE11Uncertain significancers1398118094RCV001010518|RCV001292974; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422402994224029AC11:g.94224029A>C-
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)4361MRE11Benign/Likely benignrs116679717RCV000115904|RCV000212553|RCV000313574|RCV000858639|RCV001704015; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN517202119422403194224031CTNC_000011.9:g.94224031C>TClinGen:CA331830C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.120C>T (p.Leu40=)4361MRE11Conflicting interpretations of pathogenicityrs1805364RCV000160575|RCV000212552|RCV000524512|RCV000857671|RCV001080131; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119422403294224032GANC_000011.9:g.94224032G>AClinGen:CA333744C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)4361MRE11Conflicting interpretations of pathogenicityrs372068015RCV000160576|RCV000684815|RCV000761799|RCV001034631; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119422407594224075AGNC_000011.9:g.94224075A>GClinGen:CA299295C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.59A>G (p.Asp20Gly)4361MRE11Uncertain significancers1565242083RCV000768273; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422409394224093TCNC_000011.9:g.94224093T>C-
NM_005591.4(MRE11):c.49G>C (p.Val17Leu)4361MRE11Uncertain significancers1060501790RCV000475736; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422410394224103CGNC_000011.9:g.94224103C>GClinGen:CA16613466C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.49G>A (p.Val17Ile)4361MRE11Uncertain significancers1060501790RCV000642441; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422410394224103CTNC_000011.9:g.94224103C>TClinGen:CA382381043C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.33C>A (p.Asn11Lys)4361MRE11Uncertain significancers746088302RCV000222620|RCV000642452; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422411994224119GT11:g.94224119G>TClinGen:CA10579427C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.32A>G (p.Asn11Ser)4361MRE11Uncertain significancers1555018337RCV000642451; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422412094224120TCNC_000011.9:g.94224120T>CClinGen:CA382381133C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.21-6_26del4361MRE11Conflicting interpretations of pathogenicityrs587780138RCV000115914|RCV000778135|RCV001043632; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391119422412694224137ATCATCACTATATANC_000011.9:g.94224127_94224138delClinGen:CA288173C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.20+8C>A4361MRE11Conflicting interpretations of pathogenicityrs766581183RCV000642466; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422594094225940GT11:g.94225940G>TClinGen:CA6235513C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.19C>G (p.Leu7Val)4361MRE11Uncertain significancers73517551RCV000568582|RCV001110005; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422594994225949GC11:g.94225949G>CClinGen:CA6235517C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.18A>T (p.Ala6=)4361MRE11Conflicting interpretations of pathogenicityrs758314845RCV000368218|RCV000575761; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162119422595094225950TA11:g.94225950T>AClinGen:CA6235518C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.16G>C (p.Ala6Pro)4361MRE11Uncertain significancers1060501784RCV000642443; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422595294225952CG11:g.94225952C>GClinGen:CA382381558C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.-42G>A4361MRE11Uncertain significancers199805088RCV001110006; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422600994226009CT11:g.94226009C>T-
NM_005591.4(MRE11):c.-95A>G4361MRE11Conflicting interpretations of pathogenicityrs191426010RCV000160569|RCV001110007; NMedGen:CN169374|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422606294226062TCNC_000011.9:g.94226062T>CClinGen:CA299293CN169374 not specified;
NM_005591.4(MRE11):c.-106+11A>G4361MRE11Uncertain significancers1947359703RCV001110008; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422694694226946TC11:g.94226946T>C-
NM_005591.4(MRE11):c.-106+8C>T4361MRE11Uncertain significancers886048761RCV000273871; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422694994226949GA11:g.94226949G>AClinGen:CA10635938C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.-106+5G>A4361MRE11Benignrs1805363RCV000319622|RCV001660605; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119422695294226952CT11:g.94226952C>TClinGen:CA10640517C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NC_000011.10:g.94493859A>G4361MRE11Uncertain significancers36225299RCV001110787; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347119422702594227025AG11:g.94227025A>G-
NM_005591.3(MRE11):c.-178G>A4361MRE11Benignrs1805360RCV000374171|RCV001612969; NMONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347|MedGen:CN517202119422702994227029CT11:g.94227029C>TClinGen:CA10639705C1858391 604391 Ataxia-telangiectasia-like disorder 1;
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