MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Muscular Diseases (D009135)
..Starting node
..expand
Myopathies, Structural, Congenital (D020914)

       Child Nodes:
........expandActin-Accumulation Myopathy (C579880)
........expandCap Myopathy (C579969)
........expandMinicore Myopathy with External Ophthalmoplegia (C564969)
........expandMyofibrillar Myopathy (C580316) Child1
........expandMyopathies, Nemaline (D017696) Child9
........expandMyopathy, Central Core (D020512) Child3
........expandMyopathy, Centronuclear, Autosomal Recessive (C562934)
........expandMyopathy, Congenital, With Fiber-Type Disproportion, X-Linked (C567594)
........expandMyopathy, Myofibrillar, Bag3-Related (C567843)
........expandMyosclerosis, Autosomal Recessive (C564968)
........expandMyotilinopathy (C563775)
........expandMyotubular Myopathy with Abnormal Genital Development (C564561)
........expandPleoconial Myopathy with Salt Craving (C564883)
........expandSpheroid body myopathy (C000598645)



 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandArthrogryposis (D001176) Child55
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandChanarin-Dorfman Syndrome (C536560)
..expandCompartment Syndromes (D003161) Child3
..expandContracture (D003286) Child41
..expandCraniomandibular Disorders (D017271) Child4
..expandDimauro disease (C536176)
..expandEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..expandEosinophilia-Myalgia Syndrome (D016603)
..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..expandErythrocyte Amp Deaminase Deficiency (C567878)
..expandErythrocyte Lactate Transporter Defect (C565449)
..expandFatigue Syndrome, Chronic (D015673)
..expandFibromyalgia (D005356)
..expandFingerprint Body Myopathy (C564425)
..expandHereditary Myopathy with Early Respiratory Failure (C566343)
..expandHypertrophia Musculorum Vera (C564152)
..expandIsaacs Syndrome (D020386)
..expandKocher-Debre-Semelaigne syndrome (C537211)
..expandMarinesco-Sjogren-like syndrome (MSLS) (C535913)
..expandMedial Tibial Stress Syndrome (D058923)
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMUSCLE HYPERTROPHY (OMIM:614160)
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..expandMyopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..expandMyopathy, Hyaline Body, Autosomal Recessive (C564970)
..expandMyopathy, Myosin Storage (C564253)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyositis (D009220) Child16
..expandMyostatin-related muscle hypertrophy (C536106)
..expandMyotonic Disorders (D020967) Child10
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandParalyses, Familial Periodic (D010245) Child7
..expandPectoralis Muscle, Absence of (C566793)
..expandPERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..expandPolymyalgia Rheumatica (D011111)
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandRhabdomyolysis (D012206) Child6  LSDB C:2
..expandRippling muscle disease, 1 (C535686)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSingleton Merten syndrome (C537343)
..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
..expandVacuolar myopathy (C536522)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8464
Name:Myopathies, Structural, Congenital
Definition:A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Alternative IDs:DO:DOID:14717|DO:DOID:422|OMIM:160150|OMIM:160565|OMIM:255200|OMIM:255310|OMIM:310400|OMIM:614408|OM
ParentIDs:MESH:D009135
TreeNumbers:C05.651.575 |C10.668.491.550
Synonyms:Aggregate Myopathies, Tubular |Aggregate Myopathy, Tubular |Autosomal Dominant Myotubular Myopathy |Autosomal Recessive Centronuclear Myopathy |Centronuclear Myopathies |Centronuclear Myopathies, X-Linked |Centronuclear Myopathy |Centronuclear Myopathy, X-Linke
Slim Mappings:Musculoskeletal disease|Nervous system disease
Reference: MedGen: D020914
MeSH: D020914
OMIM: 255200;
MSeqDR LSDB:  
Genes: ACTA1; BIN1; DNM2; MTM1; MTMR14; MYF6; SEPN1; STIM1; TPM3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003674Onset
3 HP:0001284Areflexia
4 HP:0003327Axial muscle weakness
5 HP:0003687Centrally nucleated skeletal muscle fibers
6 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0001618Dysphonia
9 HP:0003458EMG: myopathic abnormalities
10 HP:0010628Facial palsy
11 HP:0008872Feeding difficulties in infancy
12 HP:0001371Flexion contracture
13 HP:0003700Generalized amyotrophy
14 HP:0003391Gowers sign
15 HP:0000218High palateHP:0040283
16 HP:0003307Hyperlordosis
17 HP:0001256Intellectual disability, mildHP:0040283
18 HP:0002808Kyphosis
19 HP:0000276Long faceHP:0040283
20 HP:0001270Motor delay
21 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
22 HP:0000602Ophthalmoplegia
23 HP:0001761Pes cavusHP:0040283
24 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
25 HP:0000508Ptosis
NAMDC:  Ptosis
26 HP:0002747Respiratory insufficiency due to muscle weaknessHP:0040283
27 HP:0003691Scapular wingingHP:0040283
28 HP:0002650Scoliosis
29 HP:0001762Talipes equinovarusHP:0040283
30 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000002.11:g.(?_127804599)_(127865903_?)del274BIN1Uncertain significance-1RCV001919174; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127804599127865903-1-
NM_139343.2(BIN1):c.*501G>A274BIN1Uncertain significance77059199RCV000272775; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805601127805601NC_000002.11:g.127805601C>TClinGen:CA10612163C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*479del274BIN1Uncertain significance367627116RCV000330205; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805623127805623NC_000002.11:g.127805632delClinGen:CA10611111C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*470A>C274BIN1Uncertain significance984385783RCV001132728; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278056321278056322:g.127805632T>G-
NM_139343.3(BIN1):c.*449G>A274BIN1Uncertain significance369704619RCV000368573; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805653127805653NC_000002.11:g.127805653C>TClinGen:CA10611112C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*418C>T274BIN1Uncertain significance779551565RCV001136139; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278056841278056842:g.127805684G>A-
NM_139343.3(BIN1):c.*413G>A274BIN1Uncertain significance886054829RCV000276421; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805689127805689NC_000002.11:g.127805689C>TClinGen:CA10612028C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*303A>G274BIN1Uncertain significance766515815RCV001136140; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278057991278057992:g.127805799T>C-
NM_139343.3(BIN1):c.*301C>T274BIN1Uncertain significance886054830RCV000334087; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805801127805801NC_000002.11:g.127805801G>AClinGen:CA10612036C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*247G>T274BIN1Uncertain significance1334404831RCV001136141; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278058551278058552:g.127805855C>A-
NM_139343.3(BIN1):c.*243T>G274BIN1Uncertain significance886054831RCV000372371; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805859127805859NC_000002.11:g.127805859A>CClinGen:CA10612168C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*214G>A274BIN1Uncertain significance886054832RCV000280095; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805888127805888NC_000002.11:g.127805888C>TClinGen:CA10611114C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*194C>T274BIN1Uncertain significance565856632RCV000318845; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127805908127805908NC_000002.11:g.127805908G>AClinGen:CA10610710C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*82C>T274BIN1Uncertain significance111649895RCV000375956; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806020127806020NC_000002.11:g.127806020G>AClinGen:CA10611117C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*82C>A274BIN1Benign/Likely benign111649895RCV001129155|RCV001551697; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278060201278060202:g.127806020G>T-
NM_139343.3(BIN1):c.*55G>A274BIN1Uncertain significance886054833RCV000283741; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806047127806047NC_000002.11:g.127806047C>TClinGen:CA10612169C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.*22C>T274BIN1Uncertain significance200108564RCV001129156; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278060801278060802:g.127806080G>A-
NC_000002.11:g.(?_127806092)_(127834292_?)dup274BIN1Uncertain significance-1RCV000812689; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806092127834292-
NM_139343.3(BIN1):c.*1C>T274BIN1Conflicting interpretations of pathogenicity770804438RCV001129157|RCV001704494; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278061011278061012:g.127806101G>AClinGen:CA1856922CN169374 not specified;
NC_000002.11:g.(?_127806102)_(127864519_?)dup274BIN1Uncertain significance-1RCV001925515; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806102127864519-1-
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)274BIN1Uncertain significance-1RCV003143789; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806106127806106NC_000002.11:g.127806106G>A-
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly)274BIN1Uncertain significance2104839547RCV001363597; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806113127806113127806113-
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)274BIN1Uncertain significance-1RCV002967141; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806118127806118NC_000002.11:g.127806118G>A-
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys)274BIN1Uncertain significance1042277527RCV001248193; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278061281278061282:g.127806128C>T-
NM_139343.3(BIN1):c.1755C>T (p.Pro585=)274BIN1Likely benign-1RCV002886075; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806129127806129-
NM_139343.3(BIN1):c.1752C>T (p.Phe584=)274BIN1Likely benign1422298151RCV001402914; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278061321278061322:g.127806132G>A-
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser)274BIN1Uncertain significance1466748456RCV001316431; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806133127806133127806133-
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile)274BIN1Uncertain significance759691190RCV000702936; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806137127806137NC_000002.11:g.127806137C>T-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys)274BIN1Uncertain significance147655157RCV000701208; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806143127806143NC_000002.11:g.127806143G>A-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val)274BIN1Uncertain significance771368114RCV000824428; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278061551278061552:g.127806155G>C-
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val)274BIN1Uncertain significance775119768RCV000341221; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278061571278061572:g.127806157T>AClinGen:CA1856931C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu)274BIN1Uncertain significance2104840053RCV001923292; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806157127806158127806157-
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)274BIN1Likely pathogenic121909275RCV000008797; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278061611278061612:g.127806161T>AClinGen:CA119460,OMIM:601248.0003C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)274BIN1Pathogenic587783343RCV000145341; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806171127806171NC_000002.11:g.127806171C>TClinGen:CA171397C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)274BIN1Uncertain significance587783342RCV001064999|RCV002554471; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C095012321278061741278061742:g.127806174G>C-
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn)274BIN1Uncertain significance368983991RCV000527268; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806176127806176NC_000002.11:g.127806176C>TClinGen:CA55335014C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1698G>A (p.Val566=)274BIN1Likely benign1398854153RCV001411140; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806186127806186127806186-
NM_139343.3(BIN1):c.1696G>A (p.Val566Met)274BIN1Uncertain significance761759946RCV001328612; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806188127806188127806188-
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu)274BIN1Uncertain significance761759946RCV001345387; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806188127806188127806188-
NM_139343.3(BIN1):c.1695C>A (p.Gly565=)274BIN1Likely benign-1RCV002734983; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806189127806189-
NM_139343.3(BIN1):c.1695C>T (p.Gly565=)274BIN1Likely benign-1RCV002985575; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806189127806189-
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr)274BIN1Uncertain significance1682474004RCV001895621; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127806193127806193127806193-
NM_139343.3(BIN1):c.1675-7C>T274BIN1Conflicting interpretations of pathogenicity372449622RCV001129158; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278062161278062162:g.127806216G>A-
NM_139343.3(BIN1):c.1674+56G>A274BIN1Benign7568161RCV000837723|RCV001553976; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278079411278079412:g.127807941C>T-
NM_139343.3(BIN1):c.1674+20G>A274BIN1Benign374227714RCV002182078; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127807977127807977127807977-
NM_139343.3(BIN1):c.1674+19C>T274BIN1Likely benign-1RCV003068402; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127807978127807978NC_000002.11:g.127807978G>A-
NM_139343.3(BIN1):c.1674+3G>T274BIN1Uncertain significance1420732725RCV001374125; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127807994127807994127807994-
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys)274BIN1Uncertain significance1682762039RCV001912829; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127807999127807999127807999-
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val)274BIN1Uncertain significance774321875RCV001306635; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808001127808001127808001-
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu)274BIN1Uncertain significance1445898966RCV001341180; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808036127808036127808036-
NM_139343.3(BIN1):c.1632T>G (p.Gly544=)274BIN1Likely benign937564049RCV001433276; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278080391278080392:g.127808039A>C-
NM_139343.3(BIN1):c.1629T>G (p.Ala543=)274BIN1Conflicting interpretations of pathogenicity143258043RCV000636916; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808042127808042NC_000002.11:g.127808042A>CClinGen:CA1856963C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)274BIN1Conflicting interpretations of pathogenicity138047593RCV000145339|RCV000553563|RCV002262752; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278080461278080462:g.127808046T>CClinGen:CA171393C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)274BIN1Uncertain significance-1RCV003143791; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808051127808051NC_000002.11:g.127808051C>A-
NM_139343.3(BIN1):c.1611C>T (p.Asp537=)274BIN1Benign/Likely benign142523172RCV000538787|RCV000609834|RCV001697022; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN169374|MedGen:C36619002127808060127808060NC_000002.11:g.127808060G>AClinGen:CA1856967C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1608A>G (p.Thr536=)274BIN1Likely benign746208232RCV000932638; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278080631278080632:g.127808063T>C-
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys)274BIN1Uncertain significance773732601RCV001995117; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808064127808064127808064-
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile)274BIN1Uncertain significance773732601RCV001918577; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808064127808064127808064-
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)274BIN1Uncertain significance-1RCV003081489; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808070127808070NC_000002.11:g.127808070G>C-
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met)274BIN1Benign/Likely benign112318500RCV000145338|RCV000404410; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278080761278080762:g.127808076G>AClinGen:CA171391C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn)274BIN1Uncertain significance772786604RCV000636910; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808083127808083NC_000002.11:g.127808083C>TClinGen:CA1856972C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1587C>T (p.His529=)274BIN1Likely benign144458131RCV000253210|RCV001460821; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278080841278080842:g.127808084G>AClinGen:CA1856973CN169374 not specified;
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val)274BIN1Uncertain significance2104859449RCV001886619; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808091127808091127808091-
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg)274BIN1Uncertain significance886043878RCV000352599|RCV000660519; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278080941278080942:g.127808094T>CClinGen:CA10606068C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1573-13G>A274BIN1Likely benign-1RCV002923942; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808111127808111NC_000002.11:g.127808111C>T-
NM_139343.3(BIN1):c.1573-14C>T274BIN1Likely benign760955602RCV000610318|RCV002066618; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278081121278081122:g.127808112G>AClinGen:CA1856979CN169374 not specified;
NM_139343.3(BIN1):c.1573-18G>C274BIN1Benign12466912RCV000248429|RCV002058401; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278081161278081162:g.127808116C>GClinGen:CA1856980CN169374 not specified;
NM_139343.3(BIN1):c.1573-19C>T274BIN1Likely benign-1RCV002922451; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808117127808117NC_000002.11:g.127808117G>A-
NM_139343.3(BIN1):c.1573-63C>T274BIN1Benign7558000RCV000837722|RCV001553977; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278081611278081612:g.127808161G>A-
NM_139343.3(BIN1):c.1573-72C>T274BIN1Benign7558001RCV000837721|RCV001553978; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278081701278081702:g.127808170G>A-
NM_139343.3(BIN1):c.1573-128T>A274BIN1Benign2071270RCV000837848|RCV001553979; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278082261278082262:g.127808226A>T-
NM_139343.3(BIN1):c.1560T>G (p.Gly520=)274BIN1Likely benign1573530113RCV001429229; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278083901278083902:g.127808390A>C-
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg)274BIN1Uncertain significance765354438RCV001360688; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808392127808392127808392-
NM_139343.3(BIN1):c.1557A>C (p.Pro519=)274BIN1Likely benign-1RCV003066965; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808393127808393-
NM_139343.3(BIN1):c.1548C>T (p.Asp516=)274BIN1Likely benign750869889RCV000929229; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084021278084022:g.127808402G>A-
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe)274BIN1Uncertain significance763458588RCV002049874; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808405127808405127808405-
NM_139343.3(BIN1):c.1541G>A (p.Arg514His)274BIN1Uncertain significance766615886RCV000803312; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084091278084092:g.127808409C>T-
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys)274BIN1Benign/Likely benign148422103RCV001521153; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808410127808410127808410-
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu)274BIN1Uncertain significance755351031RCV002021350; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808412127808412127808412-
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg)274BIN1Uncertain significance777452575RCV001314951; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808413127808413127808413-
NM_139343.3(BIN1):c.1536C>T (p.Ala512=)274BIN1Likely benign753612525RCV001458252; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084141278084142:g.127808414G>A-
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr)274BIN1Uncertain significance756816560RCV001940144; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808416127808416127808416-
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)274BIN1Uncertain significance-1RCV002825516; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808418127808418NC_000002.11:g.127808418C>T-
NM_139343.3(BIN1):c.1530T>C (p.Ser510=)274BIN1Likely benign778580743RCV002084125; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808420127808420127808420-
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser)274BIN1Uncertain significance745758782RCV001232956; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084251278084252:g.127808425C>T-
NM_139343.3(BIN1):c.1524C>T (p.Gly508=)274BIN1Likely benign-1RCV002999037; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808426127808426-
NM_139343.3(BIN1):c.1516G>A (p.Val506Met)274BIN1Uncertain significance371571307RCV001316596; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808434127808434127808434-
NM_139343.3(BIN1):c.1515C>G (p.Thr505=)274BIN1Conflicting interpretations of pathogenicity375583449RCV000286271; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084351278084352:g.127808435G>CClinGen:CA10612037C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1515C>T (p.Thr505=)274BIN1Likely benign375583449RCV001502308|RCV003438841; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127808435127808435127808435-
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)274BIN1Uncertain significance-1RCV002990861|RCV003143567; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808458127808458NC_000002.11:g.127808458A>G-
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu)274BIN1Uncertain significance1191840422RCV001301017; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808467127808467127808467-
NM_139343.3(BIN1):c.1480G>A (p.Val494Met)274BIN1Uncertain significance144459969RCV001294513; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808470127808470127808470-
NM_139343.3(BIN1):c.1479C>T (p.Val493=)274BIN1Conflicting interpretations of pathogenicity773313892RCV000343605; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084711278084712:g.127808471G>AClinGen:CA1857022C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala)274BIN1Uncertain significance1682847067RCV001070741; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084721278084722:g.127808472A>G-
NM_139343.3(BIN1):c.1473T>C (p.Pro491=)274BIN1Conflicting interpretations of pathogenicity779756862RCV000406360; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084771278084772:g.127808477A>GClinGen:CA1857023C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1472del (p.Pro491fs)274BIN1Uncertain significance1682848303RCV001295533; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808478127808478127808477-
NM_139343.3(BIN1):c.1470del (p.Pro491fs)274BIN1Uncertain significance-1RCV002846802; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808480127808480NC_000002.11:g.127808481del-
NM_139343.3(BIN1):c.1464C>T (p.Ser488=)274BIN1Likely benign759941022RCV001475488; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808486127808486127808486-
NM_139343.3(BIN1):c.1462-3C>T274BIN1Uncertain significance200384643RCV000700693; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278084911278084912:g.127808491G>A-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1462-13C>T274BIN1Likely benign-1RCV002898730; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808501127808501NC_000002.11:g.127808501G>A-
NM_139343.3(BIN1):c.1462-16G>A274BIN1Likely benign372302632RCV002146197; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808504127808504127808504-
NM_139343.3(BIN1):c.1462-17C>T274BIN1Likely benign757885823RCV002091096; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808505127808505127808505-
NM_139343.3(BIN1):c.1461+20G>A274BIN1Likely benign2104866729RCV002124145; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808710127808710127808710-
NM_139343.3(BIN1):c.1461+16C>T274BIN1Likely benign2104866756RCV002171165; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808714127808714127808714-
NM_139343.3(BIN1):c.1461+6A>T274BIN1Uncertain significance972060066RCV001876308; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808724127808724127808724-
NM_139343.3(BIN1):c.1461+1G>A274BIN1Conflicting interpretations of pathogenicity764951306RCV001298358|RCV001532404; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127808729127808729127808729-
NM_139343.3(BIN1):c.1461C>T (p.Ser487=)274BIN1Uncertain significance34647988RCV000145337; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808730127808730NC_000002.11:g.127808730G>AClinGen:CA171389C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys)274BIN1Uncertain significance1342661066RCV001052649; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278087311278087312:g.127808731G>C-
NM_139343.3(BIN1):c.1443G>A (p.Ala481=)274BIN1Likely benign765816262RCV001419730; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278087481278087482:g.127808748C>T-
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val)274BIN1Uncertain significance140410496RCV000550351; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808749127808749NC_000002.11:g.127808749G>AClinGen:CA1857053C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1440G>A (p.Thr480=)274BIN1Likely benign754900286RCV001431389; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808751127808751127808751-
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met)274BIN1Uncertain significance780918654RCV000535586|RCV001770422|RCV002527749; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN517202|MeSH:D030342,MedGen:C09501232127808752127808752NC_000002.11:g.127808752G>AClinGen:CA1857055C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)274BIN1Uncertain significance-1RCV002620511; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808752127808752NC_000002.11:g.127808752G>T-
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys)274BIN1Uncertain significance865803817RCV001908786; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808756127808756127808756-
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val)274BIN1Uncertain significance746346952RCV000525420; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808779127808779NC_000002.11:g.127808779G>AClinGen:CA1857062C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)274BIN1Uncertain significance-1RCV002726091; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808783127808783NC_000002.11:g.127808783G>C-
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile)274BIN1Uncertain significance769199881RCV001056158; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278087881278087882:g.127808788G>A-
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)274BIN1Uncertain significance-1RCV003143793; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808792127808792NC_000002.11:g.127808792C>T-
NM_139343.3(BIN1):c.1395G>C (p.Ala465=)274BIN1Conflicting interpretations of pathogenicity765870974RCV001131837; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278087961278087962:g.127808796C>G-
NM_139343.3(BIN1):c.1395G>A (p.Ala465=)274BIN1Likely benign765870974RCV002105274; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808796127808796127808796-
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val)274BIN1Uncertain significance751051376RCV001131838; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278087971278087972:g.127808797G>A-
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu)274BIN1Likely benign200580275RCV000551683; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808806127808806NC_000002.11:g.127808806G>AClinGen:CA1857072C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1372-1G>A274BIN1Conflicting interpretations of pathogenicity1682909859RCV002253168|RCV003094132; N|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808820127808820127808820-
NM_139343.3(BIN1):c.1372-7G>T274BIN1Likely benign777558116RCV002204178; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127808826127808826127808826-
NM_139343.3(BIN1):c.1372-90C>T274BIN1Benign6745677RCV000837846|RCV001554063; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278089091278089092:g.127808909G>A-
NM_139343.3(BIN1):c.1371+12C>T274BIN1Likely benign1015206482RCV002112042; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809819127809819127809819-
NM_139343.3(BIN1):c.1371+10C>G274BIN1Likely benign1573539169RCV001431027; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098211278098212:g.127809821G>C-
NM_139343.3(BIN1):c.1371+1G>T274BIN1Conflicting interpretations of pathogenicity556129959RCV000312478|RCV001213324; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098301278098302:g.127809830C>AClinGen:CA1857088C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)274BIN1Uncertain significance-1RCV002296781; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809836127809836127809836-
NM_139343.3(BIN1):c.1362G>T (p.Gly454=)274BIN1Benign/Likely benign61748155RCV000145336|RCV000309589; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098401278098402:g.127809840C>AClinGen:CA171387C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1362G>C (p.Gly454=)274BIN1Likely benign61748155RCV002153799; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809840127809840127809840-
NM_139343.3(BIN1):c.1359G>A (p.Pro453=)274BIN1Conflicting interpretations of pathogenicity201397427RCV001132832; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809843127809843NC_000002.11:g.127809843C>TClinGen:CA1857092C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)274BIN1Uncertain significance753599819RCV001577220|RCV001038283; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098441278098442:g.127809844G>A-
NM_139343.3(BIN1):c.1353C>T (p.Ala451=)274BIN1Conflicting interpretations of pathogenicity552244334RCV000338571|RCV002059218; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098491278098492:g.127809849G>AClinGen:CA1857094CN169374 not specified;
NM_139343.3(BIN1):c.1353C>G (p.Ala451=)274BIN1Likely benign552244334RCV002136518; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809849127809849127809849-
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)274BIN1Uncertain significance-1RCV003143787; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809850127809850NC_000002.11:g.127809850G>T-
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys)274BIN1Uncertain significance750715069RCV002020500; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809853127809853127809853-
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)274BIN1Uncertain significance-1RCV002462417|RCV003103124; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809853127809853NC_000002.11:g.127809853G>A-
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr)274BIN1Uncertain significance1158338100RCV001980934; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809868127809868127809868-
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val)274BIN1Uncertain significance758494519RCV000366610; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098741278098742:g.127809874G>AClinGen:CA10612042C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly)274BIN1Uncertain significance758494519RCV000688764; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809874127809874NC_000002.11:g.127809874G>C-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)274BIN1Uncertain significance-1RCV003045393; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809876127809876NC_000002.11:g.127809876A>C-
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile)274BIN1Uncertain significance886054834RCV000395082; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098801278098802:g.127809880G>AClinGen:CA10611121C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1314C>T (p.Ala438=)274BIN1Likely benign747474627RCV000945615; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098881278098882:g.127809888G>A-
NM_139343.3(BIN1):c.1308C>T (p.Ser436=)274BIN1Likely benign760959487RCV001489696; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809894127809894127809894-
NM_139343.3(BIN1):c.1305C>T (p.Pro435=)274BIN1Likely benign1202386291RCV001447626; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809897127809897127809897-
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr)274BIN1Uncertain significance1240564481RCV001248597; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278098991278098992:g.127809899G>T-
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu)274BIN1Benign/Likely benign141119288RCV000254301|RCV000636918|RCV001697726; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278099101278099102:g.127809910G>AClinGen:CA1857103C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)274BIN1Uncertain significance-1RCV002653174; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809916127809916NC_000002.11:g.127809916C>T-
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser)274BIN1Uncertain significance200124094RCV000636911|RCV003117445; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127809920127809920NC_000002.11:g.127809920C>TClinGen:CA1857104C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1281C>T (p.Ala427=)274BIN1Likely benign373834859RCV001419302; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809921127809921127809921-
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly)274BIN1Uncertain significance1468092156RCV001132833; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278099311278099312:g.127809931T>C-
NM_139343.3(BIN1):c.1264-11_1270del274BIN1Conflicting interpretations of pathogenicity776737413RCV000724730|RCV001080356; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809932127809949NC_000002.11:g.127809933_127809950delClinGen:CA1857107
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu)274BIN1Uncertain significance760559539RCV001940277; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809937127809937127809937-
NM_139343.3(BIN1):c.1264-5A>C274BIN1Conflicting interpretations of pathogenicity541219767RCV000558619|RCV001786398; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127809943127809943NC_000002.11:g.127809943T>GClinGen:CA1857110C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1264-8G>A274BIN1Likely benign776696908RCV000249507|RCV002058400; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278099461278099462:g.127809946C>TClinGen:CA1857111CN169374 not specified;
NM_139343.3(BIN1):c.1264-12G>T274BIN1Likely benign765093822RCV002080826; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809950127809950127809950-
NM_139343.3(BIN1):c.1264-15G>A274BIN1Likely benign750540849RCV002152956; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809953127809953127809953-
NM_139343.3(BIN1):c.1264-16C>T274BIN1Likely benign-1RCV003104305; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127809954127809954NC_000002.11:g.127809954G>A-
NM_139343.3(BIN1):c.1263+17C>T274BIN1Likely benign569766405RCV002220726; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127810981127810981127810981-
NM_139343.3(BIN1):c.1263+12G>A274BIN1Likely benign-1RCV002775301; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127810986127810986NC_000002.11:g.127810986C>T-
NM_139343.3(BIN1):c.1263+11C>T274BIN1Conflicting interpretations of pathogenicity78967885RCV000192807|RCV000312988; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127810987127810987NC_000002.11:g.127810987G>AClinGen:CA205892C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter)274BIN1Uncertain significance2104891817RCV001367846; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811010127811010127811010-
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)274BIN1Uncertain significance-1RCV002857922; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811010127811010NC_000002.11:g.127811010C>G-
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala)274BIN1Uncertain significance777951748RCV001214403; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278110211278110212:g.127811021A>C-
NM_139343.3(BIN1):c.1240-6G>T274BIN1Likely benign548956444RCV001392325; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811027127811027127811027-
NM_139343.3(BIN1):c.1240-6G>A274BIN1Likely benign548956444RCV002094358; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811027127811027127811027-
NM_139343.3(BIN1):c.1240-7C>T274BIN1Likely benign746676469RCV001457289; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811028127811028127811028-
NM_139343.3(BIN1):c.1240-9T>C274BIN1Likely benign1360673670RCV002204589; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811030127811030127811030-
NM_139343.3(BIN1):c.1240-20G>A274BIN1Likely benign377476606RCV002101719; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811041127811041127811041-
NM_139343.3(BIN1):c.1239+15_1239+24del274BIN1Likely benign964389278RCV001957465; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811457127811466127811456-
NM_139343.3(BIN1):c.1239+16C>A274BIN1Likely benign550357998RCV002083715; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811465127811465127811465-
NM_139343.3(BIN1):c.1239+12C>T274BIN1Likely benign1051734043RCV002081951; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811469127811469127811469-
NM_139343.3(BIN1):c.1227G>A (p.Thr409=)274BIN1Likely benign-1RCV002766574|RCV003435826; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127811493127811493-
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met)274BIN1Uncertain significance754678339RCV001919801; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811494127811494127811494-
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)274BIN1Uncertain significance-1RCV002791914; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811512127811512NC_000002.11:g.127811512C>T-
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met)274BIN1Uncertain significance747660857RCV000803034; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115151278115152:g.127811515G>A-
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)274BIN1Uncertain significance-1RCV003074011; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811519127811519NC_000002.11:g.127811519C>T-
NM_139343.3(BIN1):c.1200C>T (p.Pro400=)274BIN1Likely benign-1RCV002922516; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811520127811520-
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr)274BIN1Uncertain significance769252326RCV002046248; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811522127811522127811522-
NM_139343.3(BIN1):c.1197G>A (p.Pro399=)274BIN1Likely benign370728071RCV001451165|RCV001704417; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN51720221278115231278115232:g.127811523C>TClinGen:CA1857165CN169374 not specified;
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu)274BIN1Uncertain significance558530329RCV000728437|RCV001862147; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811524127811524NC_000002.11:g.127811524G>A-
NM_139343.3(BIN1):c.1188C>T (p.Asp396=)274BIN1Likely benign1321356771RCV002185095; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811532127811532127811532-
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly)274BIN1Uncertain significance375322787RCV000822221; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115391278115392:g.127811539T>C-
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr)274BIN1Uncertain significance1683302135RCV001307237; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811554127811554127811554-
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)274BIN1Uncertain significance-1RCV002594285; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811558127811558NC_000002.11:g.127811558C>T-
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys)274BIN1Uncertain significance1268978517RCV002039611; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811564127811564127811564-
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)274BIN1Uncertain significance368616652RCV000725377|RCV001054931; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115661278115662:g.127811566G>AClinGen:CA10604662CN169374 not specified;
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser)274BIN1Uncertain significance1573549506RCV000794777; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115731278115732:g.127811573G>A-
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr)274BIN1Uncertain significance1573549506RCV001345894; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811573127811573127811573-
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)274BIN1Uncertain significance-1RCV002593996; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127811575127811575NC_000002.11:g.127811575C>T-
NM_139343.3(BIN1):c.1143G>A (p.Pro381=)274BIN1Conflicting interpretations of pathogenicity372360787RCV000370019|RCV001706543; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278115771278115772:g.127811577C>TClinGen:CA1857167C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)274BIN1Uncertain significance794727107RCV000174616|RCV000765501; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115781278115782:g.127811578G>AClinGen:CA240163CN169374 not specified;
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr)274BIN1Uncertain significance200887814RCV000694980; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115821278115822:g.127811582C>T-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1132-2A>G274BIN1Uncertain significance1295546366RCV000686184; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115901278115902:g.127811590T>C-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1132-6_1132-4dup274BIN1Likely benign765093741RCV000819593; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115911278115922:g.127811591_127811592insGGC-
NM_139343.3(BIN1):c.1132-22TGC[7]274BIN1Conflicting interpretations of pathogenicity748026377RCV000277662; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115921278115932:g.127811592_127811593insGCAClinGen:CA10612048C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1132-22TGC[8]274BIN1Likely benign748026377RCV000877119; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115921278115932:g.127811592_127811593insGCAGCA-
NM_139343.3(BIN1):c.1132-7T>C274BIN1Conflicting interpretations of pathogenicity115938552RCV000145335|RCV000536059|RCV001719915; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278115951278115952:g.127811595A>GClinGen:CA171386C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1132-8C>T274BIN1Likely benign1573549844RCV001475611; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278115961278115962:g.127811596G>A-
NM_139343.3(BIN1):c.1132-126_1132-125dup274BIN1Benign35339559RCV000837831|RCV001554064; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278117121278117132:g.127811712_127811713insCA-
NM_139343.3(BIN1):c.1131+7_1131+26del274BIN1Likely benign555116802RCV000543062; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815023127815042NC_000002.11:g.127815027_127815046delClinGen:CA1857178
NM_139343.3(BIN1):c.1131+14_1131+22del274BIN1Likely benign751183383RCV002220488; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815027127815035127815026-
NC_000002.11:g.(?_127815029)_(127864539_?)dup274BIN1Uncertain significance-1RCV000707869; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815029127864539-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1131+18C>T274BIN1Benign191760397RCV000247438|RCV002058399; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150311278150312:g.127815031G>AClinGen:CA1857182CN169374 not specified;
NM_139343.3(BIN1):c.1131+18C>A274BIN1Likely benign191760397RCV002118247; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815031127815031127815031-
NM_139343.3(BIN1):c.1131+16C>T274BIN1Likely benign-1RCV003091201; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815033127815033NC_000002.11:g.127815033G>A-
NM_139343.3(BIN1):c.1131+14G>A274BIN1Likely benign767192904RCV002100226; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815035127815035127815035-
NM_139343.3(BIN1):c.1131+13C>T274BIN1Likely benign-1RCV002612045; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815036127815036NC_000002.11:g.127815036G>A-
NM_139343.3(BIN1):c.1131+9C>T274BIN1Conflicting interpretations of pathogenicity138606879RCV000316364; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150401278150402:g.127815040G>AClinGen:CA1857185C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1131+7C>T274BIN1Likely benign376590911RCV000426182|RCV000557755; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150421278150422:g.127815042G>AClinGen:CA1857186C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg)274BIN1Conflicting interpretations of pathogenicity2104935838RCV001816264|RCV001869643; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815056127815056127815056-
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)274BIN1Uncertain significance-1RCV002736791; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815056127815056NC_000002.11:g.127815056G>A-
NM_139343.3(BIN1):c.1122C>T (p.Thr374=)274BIN1Likely benign1386270090RCV001448346; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150581278150582:g.127815058G>A-
NM_139343.3(BIN1):c.1119C>T (p.Thr373=)274BIN1Conflicting interpretations of pathogenicity1444368852RCV001501063|RCV003319474; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127815061127815061127815061-
NM_139343.3(BIN1):c.1114G>A (p.Val372Met)274BIN1Uncertain significance749198133RCV000435212|RCV001064060; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150661278150662:g.127815066C>TClinGen:CA1857187CN169374 not specified;
NM_139343.3(BIN1):c.1113C>T (p.Ser371=)274BIN1Likely benign757286408RCV002064749; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150671278150672:g.127815067G>A-
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)274BIN1Uncertain significance-1RCV002294924; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815067127815067127815067-
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly)274BIN1Uncertain significance1553456782RCV000532874; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150691278150692:g.127815069T>CClinGen:CA348378423C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1095G>A (p.Thr365=)274BIN1Likely benign1401448705RCV001482810; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815085127815085127815085-
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met)274BIN1Uncertain significance577812854RCV002003439; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815086127815086127815086-
NM_139343.3(BIN1):c.1092C>T (p.Asp364=)274BIN1Uncertain significance745647728RCV001136228; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278150881278150882:g.127815088G>A-
NM_139343.3(BIN1):c.1083G>A (p.Leu361=)274BIN1Likely benign543438812RCV001425178; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815097127815097127815097-
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe)274BIN1Uncertain significance965561469RCV001911459; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815105127815105127815105-
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val)274BIN1Uncertain significance1355424178RCV001312281; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815108127815108127815108-
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu)274BIN1Uncertain significance886043420RCV000325514|RCV000636912; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278151201278151202:g.127815120T>CClinGen:CA10605499C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1047G>A (p.Pro349=)274BIN1Conflicting interpretations of pathogenicity148945502RCV000354884; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815133127815133NC_000002.11:g.127815133C>TClinGen:CA1857193C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu)274BIN1Uncertain significance775494528RCV000707242; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815134127815134NC_000002.11:g.127815134G>A-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1029G>A (p.Pro343=)274BIN1Likely benign1470654878RCV001485588; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815151127815151127815151-
NM_139343.3(BIN1):c.1020A>G (p.Pro340=)274BIN1Likely benign-1RCV002942238; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815160127815160-
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser)274BIN1Uncertain significance1405949552RCV001136229; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278151621278151622:g.127815162G>A-
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)274BIN1Uncertain significance-1RCV002705633; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815162127815162NC_000002.11:g.127815162G>C-
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp)274BIN1Uncertain significance76037557RCV001756345|RCV002539861; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815174127815174127815174-
NM_139343.3(BIN1):c.1003-6C>A274BIN1Likely benign1406716458RCV000701181; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815183127815183NC_000002.11:g.127815183G>T-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.1003-10C>T274BIN1Likely benign763361398RCV001415684; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127815187127815187127815187-
NM_139343.3(BIN1):c.1003-11C>G274BIN1Conflicting interpretations of pathogenicity759676621RCV001136230|RCV001712245; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278151881278151882:g.127815188G>CClinGen:CA1857200CN169374 not specified;
NM_139343.3(BIN1):c.1003-13C>T274BIN1Conflicting interpretations of pathogenicity374490688RCV001136231; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278151901278151902:g.127815190G>A-
NM_139343.3(BIN1):c.1003-15G>A274BIN1Benign/Likely benign149290511RCV000244281|RCV002058398; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278151921278151922:g.127815192C>TClinGen:CA1857202CN169374 not specified;
NM_139343.3(BIN1):c.1003-16C>T274BIN1Benign/Likely benign547659375RCV000291039|RCV002059314; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278151931278151932:g.127815193G>AClinGen:CA1857203CN169374 not specified;
NM_139343.3(BIN1):c.1002+163T>C274BIN1Benign2276582RCV000837720|RCV001554065; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278164241278164242:g.127816424A>G-
NM_139343.3(BIN1):c.1002+2T>C274BIN1Likely pathogenic1553458019RCV000498774|RCV001782991; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278165851278165852:g.127816585A>GClinGen:CA348379141CN517202 not provided;
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)274BIN1Uncertain significance-1RCV002856456; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816608127816609NC_000002.11:g.127816618_127816629dup-
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)274BIN1Uncertain significance-1RCV002685510; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816609127816620NC_000002.11:g.127816618_127816629del-
NM_139343.3(BIN1):c.975G>A (p.Gly325=)274BIN1Likely benign771288492RCV002211638; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816614127816614127816614-
NM_139343.3(BIN1):c.972C>T (p.Pro324=)274BIN1Likely benign537603056RCV001405964; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816617127816617127816617-
NM_139343.3(BIN1):c.968C>T (p.Thr323Met)274BIN1Uncertain significance763810794RCV001227524; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166211278166212:g.127816621G>A-
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser)274BIN1Uncertain significance753614814RCV001959910; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816622127816622127816622-
NM_139343.3(BIN1):c.965C>T (p.Ala322Val)274BIN1Uncertain significance1684085224RCV001136232; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166241278166242:g.127816624G>A-
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)274BIN1Uncertain significance557276019RCV000262446|RCV000442714|RCV002521281; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C3661900|MeSH:D030342,MedGen:C09501232127816628127816628NC_000002.11:g.127816628C>TClinGen:CA1857225C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.960C>T (p.Gly320=)274BIN1Likely benign758286460RCV001981032; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816629127816629127816629-
NM_139343.3(BIN1):c.957C>A (p.Ala319=)274BIN1Uncertain significance2276579RCV000145351; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816632127816632NC_000002.11:g.127816632G>TClinGen:CA171414C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.957C>G (p.Ala319=)274BIN1Uncertain significance2276579RCV000145352; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816632127816632NC_000002.11:g.127816632G>CClinGen:CA171416C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.957C>T (p.Ala319=)274BIN1Benign/Likely benign2276579RCV000145353|RCV000319647; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166321278166322:g.127816632G>AClinGen:CA171417C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)274BIN1Uncertain significance-1RCV002651506; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816636127816636NC_000002.11:g.127816636G>A-
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser)274BIN1Uncertain significance781377841RCV001904434; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816637127816637127816637-
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser)274BIN1Uncertain significance748381039RCV001352051; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816643127816643127816643-
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln)274BIN1Uncertain significance769801396RCV001238446; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166461278166462:g.127816646C>G-
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys)274BIN1Uncertain significance769801396RCV001878467; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816646127816646127816646-
NM_139343.3(BIN1):c.942C>T (p.His314=)274BIN1Conflicting interpretations of pathogenicity370911793RCV000724853|RCV001087297; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166471278166472:g.127816647G>AClinGen:CA239563CN169374 not specified;
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)274BIN1Uncertain significance-1RCV003044521; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816654127816654NC_000002.11:g.127816654A>C-
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)274BIN1Uncertain significance374565677RCV000445206|RCV001045898; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166641278166642:g.127816664C>TClinGen:CA1857232CN169374 not specified;
NM_139343.3(BIN1):c.924C>T (p.Pro308=)274BIN1Conflicting interpretations of pathogenicity367611371RCV000372979|RCV000726110|RCV001088820; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166651278166652:g.127816665G>AClinGen:CA1857233CN169374 not specified;
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser)274BIN1Uncertain significance199551366RCV001204344; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166691278166692:g.127816669G>C-
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile)274BIN1Uncertain significance199551366RCV001344573; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816669127816669127816669-
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)274BIN1Uncertain significance-1RCV002895747; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816673127816673NC_000002.11:g.127816673C>T-
NM_139343.3(BIN1):c.915C>T (p.Ala305=)274BIN1Likely benign761585447RCV001504952; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166741278166742:g.127816674G>A-
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)274BIN1Uncertain significance-1RCV003143792; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816681127816681NC_000002.11:g.127816681G>A-
NM_139343.3(BIN1):c.906C>T (p.Gly302=)274BIN1Conflicting interpretations of pathogenicity371258305RCV000252539|RCV000636914|RCV001722356; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278166831278166832:g.127816683G>AClinGen:CA1857240C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.903T>C (p.Asp301=)274BIN1Likely benign141588262RCV000544828; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816686127816686NC_000002.11:g.127816686A>GClinGen:CA1857241C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly)274BIN1Uncertain significance1259572705RCV001975790; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816687127816687127816687-
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr)274BIN1Uncertain significance1462533329RCV001062598; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166881278166882:g.127816688C>A-
NM_139343.3(BIN1):c.894G>A (p.Ser298=)274BIN1Benign/Likely benign2228955RCV000145350|RCV000376667; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166951278166952:g.127816695C>TClinGen:CA171412C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu)274BIN1Uncertain significance754707833RCV000487008|RCV001055348; NMedGen:CN517202|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278166961278166962:g.127816696G>AClinGen:CA1857243CN169374 not specified;
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr)274BIN1Uncertain significance1160778854RCV001885590; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816700127816700127816700-
NM_139343.3(BIN1):c.888C>T (p.Ser296=)274BIN1Conflicting interpretations of pathogenicity114833236RCV000145349|RCV000284692|RCV003221820; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278167011278167012:g.127816701G>AClinGen:CA171410C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn)274BIN1Uncertain significance1490772170RCV001227299; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278167021278167022:g.127816702C>T-
NM_139343.3(BIN1):c.867G>A (p.Ala289=)274BIN1Likely benign201839857RCV000875950; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278167221278167222:g.127816722C>T-
NM_139343.3(BIN1):c.866C>T (p.Ala289Val)274BIN1Uncertain significance771112840RCV000817171; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278167231278167232:g.127816723G>A-
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)274BIN1Uncertain significance-1RCV003017441; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816724127816724NC_000002.11:g.127816724C>T-
NM_139343.3(BIN1):c.864C>T (p.Asn288=)274BIN1Likely benign746393271RCV000636917; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816725127816725NC_000002.11:g.127816725G>AClinGen:CA1857250C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser)274BIN1Uncertain significance2104954121RCV001965692; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816726127816726127816726-
NM_139343.3(BIN1):c.858-5C>T274BIN1Benign/Likely benign75328896RCV000560847|RCV000602308; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN16937421278167361278167362:g.127816736G>AClinGen:CA1857252C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.858-10T>C274BIN1Likely benign-1RCV002598648; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127816741127816741NC_000002.11:g.127816741A>G-
NM_139343.3(BIN1):c.858-12C>A274BIN1Benign6720741RCV000145348|RCV000323294; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278167431278167432:g.127816743G>TClinGen:CA171409C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.857+18C>T274BIN1Likely benign1244052584RCV002131045; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819673127819673127819673-
NM_139343.3(BIN1):c.857+12G>A274BIN1Likely benign-1RCV002636566; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819679127819679NC_000002.11:g.127819679C>T-
NM_139343.3(BIN1):c.857+4C>T274BIN1Uncertain significance61748156RCV000636909; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819687127819687NC_000002.11:g.127819687G>AClinGen:CA1857310C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)274BIN1Uncertain significance-1RCV003078632; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819701127819701NC_000002.11:g.127819701C>T-
NM_139343.3(BIN1):c.839C>T (p.Thr280Met)274BIN1Uncertain significance201872255RCV000636908; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278197091278197092:g.127819709G>AClinGen:CA1857311C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg)274BIN1Uncertain significance771506242RCV001227313; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278197251278197252:g.127819725C>T-
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp)274BIN1Uncertain significance771506242RCV001296423; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819725127819725127819725-
NM_139343.3(BIN1):c.822C>T (p.His274=)274BIN1Likely benign368730077RCV000710737|RCV001432725; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819726127819726NC_000002.11:g.127819726G>A-
NM_139343.3(BIN1):c.821A>G (p.His274Arg)274BIN1Uncertain significance-1RCV002632563; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819727127819727NC_000002.11:g.127819727T>C-
NM_139343.3(BIN1):c.808C>T (p.Leu270=)274BIN1Likely benign-1RCV002611712; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819740127819740-
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)274BIN1Conflicting interpretations of pathogenicity372072916RCV000420208|RCV000697587|RCV002522439; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C095012321278197431278197432:g.127819743C>TClinGen:CA1857317C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.804C>T (p.Val268=)274BIN1Likely benign761683510RCV001484332; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819744127819744127819744-
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser)274BIN1Uncertain significance766319258RCV001129261|RCV002556819; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C095012321278197571278197572:g.127819757T>C-
NM_139343.3(BIN1):c.789C>T (p.Leu263=)274BIN1Likely benign-1RCV002912649; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819759127819759-
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)274BIN1Uncertain significance-1RCV003143788; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819763127819763NC_000002.11:g.127819763T>C-
NM_139343.3(BIN1):c.784A>C (p.Asn262His)274BIN1Uncertain significance1331854784RCV001896586; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819764127819764127819764-
NM_139343.3(BIN1):c.775-3C>T274BIN1Uncertain significance373768625RCV001904769; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819776127819776127819776-
NM_139343.3(BIN1):c.775-4G>A274BIN1Benign61748157RCV000145347|RCV000381094; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278197771278197772:g.127819777C>TClinGen:CA171408C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.775-7C>G274BIN1Likely benign1684594015RCV001929251; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819780127819780127819780-
NM_139343.3(BIN1):c.775-8T>C274BIN1Likely benign-1RCV002701072; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819781127819781NC_000002.11:g.127819781A>G-
NM_139343.3(BIN1):c.775-13G>T274BIN1Likely benign778119265RCV000615175|RCV002529519; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278197861278197862:g.127819786C>AClinGen:CA535638117CN169374 not specified;
NM_139343.3(BIN1):c.775-13G>C274BIN1Likely benign778119265RCV002165316; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819786127819786127819786-
NM_139343.3(BIN1):c.775-15C>T274BIN1Likely benign367719456RCV002177801; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127819788127819788127819788-
NM_139343.3(BIN1):c.774+62G>A274BIN1Benign2071268RCV000837829|RCV001554066; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278210851278210852:g.127821085C>T-
NC_000002.11:g.(?_127821127)_(127834302_?)dup274BIN1Uncertain significance-1RCV000636923; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821127127834302-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.774+16C>T274BIN1Likely benign1482374716RCV002081760; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821131127821131127821131-
NM_139343.3(BIN1):c.774+13G>A274BIN1Likely benign767512096RCV002079020; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821134127821134127821134-
NM_139343.3(BIN1):c.774+9dup274BIN1Likely benign1196593252RCV002083557; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821137127821138127821137-
NM_139343.3(BIN1):c.774+10G>A274BIN1Likely benign1684774289RCV002147107; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821137127821137127821137-
NM_139343.3(BIN1):c.774+9T>C274BIN1Likely benign-1RCV002790837; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821138127821138NC_000002.11:g.127821138A>G-
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn)274BIN1Uncertain significance761203710RCV001059191; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278211511278211512:g.127821151C>T-
NM_139343.3(BIN1):c.767T>C (p.Met256Thr)274BIN1Uncertain significance975404965RCV000636905; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278211541278211542:g.127821154A>GClinGen:CA55349049C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.741C>G (p.Gly247=)274BIN1Likely benign766037529RCV001438420; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821180127821180127821180-
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp)274BIN1Uncertain significance1684781364RCV001230754; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278211811278211812:g.127821181C>T-
NM_139343.3(BIN1):c.738G>A (p.Ala246=)274BIN1Likely benign751182086RCV000960392; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278211831278211832:g.127821183C>T-
NM_139343.3(BIN1):c.735C>T (p.Ile245=)274BIN1Likely benign184358580RCV001466672; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821186127821186127821186-
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly)274BIN1Uncertain significance777898974RCV001962734; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821191127821191127821191-
NM_139343.3(BIN1):c.723G>A (p.Thr241=)274BIN1Likely benign370016618RCV001423774; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821198127821198127821198-
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)274BIN1Uncertain significance146573197RCV000546175|RCV000726561; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278212061278212062:g.127821206C>TClinGen:CA1857358C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.714C>T (p.Tyr238=)274BIN1Benign1137845RCV000145346|RCV000288997; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278212071278212072:g.127821207G>AClinGen:CA171406C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.702C>T (p.Arg234=)274BIN1Likely benign775573748RCV000636922; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821219127821219NC_000002.11:g.127821219G>AClinGen:CA1857360C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.701G>A (p.Arg234His)274BIN1Uncertain significance-1RCV002982533; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821220127821220NC_000002.11:g.127821220C>T-
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)274BIN1Pathogenic/Likely pathogenic777176261RCV000754843; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821221127821221NC_000002.11:g.127821221G>AOMIM:601248.0005
NM_139343.3(BIN1):c.699-4G>A274BIN1Likely benign1389764447RCV002100378; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821226127821226127821226-
NM_139343.3(BIN1):c.699-5T>C274BIN1Likely benign1573608578RCV001472870; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278212271278212272:g.127821227A>G-
NM_139343.3(BIN1):c.699-13C>T274BIN1Likely benign373662459RCV000250699|RCV002058403; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278212351278212352:g.127821235G>AClinGen:CA1857367CN169374 not specified;
NM_139343.3(BIN1):c.698+19C>T274BIN1Likely benign2105007728RCV002169912; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821490127821490127821490-
NM_139343.3(BIN1):c.698+15G>A274BIN1Conflicting interpretations of pathogenicity535176915RCV001131969; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278214941278214942:g.127821494C>T-
NM_139343.3(BIN1):c.698+14C>T274BIN1Likely benign376710764RCV000612577|RCV002064284; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278214951278214952:g.127821495G>AClinGen:CA1857385CN169374 not specified;
NM_139343.3(BIN1):c.698+10A>G274BIN1Benign72481904RCV000145345|RCV000346183; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278214991278214992:g.127821499T>CClinGen:CA171405C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.698+9_698+10inv274BIN1Likely benign-1RCV002156674; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821499127821500127821499-
NM_139343.3(BIN1):c.698+9C>T274BIN1Conflicting interpretations of pathogenicity763703697RCV000609715|RCV001131970; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278215001278215002:g.127821500G>AClinGen:CA1857388CN169374 not specified;
NM_139343.3(BIN1):c.698+7C>T274BIN1Likely benign2105007972RCV002204764; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821502127821502127821502-
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)274BIN1Uncertain significance143820618RCV000145344|RCV000514580|RCV000529083; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821511127821511NC_000002.11:g.127821511G>TClinGen:CA171403C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.684G>A (p.Pro228=)274BIN1Likely benign778962397RCV001493927; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821523127821523127821523-
NM_139343.3(BIN1):c.681G>A (p.Leu227=)274BIN1Conflicting interpretations of pathogenicity199658397RCV000384474; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821526127821526NC_000002.11:g.127821526C>TClinGen:CA1857391C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.679C>G (p.Leu227Val)274BIN1Uncertain significance886054835RCV000292621|RCV002254923; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN5172022127821528127821528NC_000002.11:g.127821528G>CClinGen:CA10612170C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.675G>A (p.Glu225=)274BIN1Conflicting interpretations of pathogenicity148179522RCV000945400; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278215321278215322:g.127821532C>T-
NM_139343.3(BIN1):c.669G>A (p.Leu223=)274BIN1Likely benign1573610955RCV001463541; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278215381278215382:g.127821538C>T-
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu)274BIN1Uncertain significance376323215RCV001314915; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821541127821541127821541-
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)274BIN1Uncertain significance-1RCV002967621; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821545127821545NC_000002.11:g.127821545A>T-
NM_139343.3(BIN1):c.661G>A (p.Val221Met)274BIN1Uncertain significance573529529RCV001365447|RCV002462961; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127821546127821546127821546-
NM_139343.3(BIN1):c.660T>C (p.Asn220=)274BIN1Likely benign1573611005RCV001472349; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278215471278215472:g.127821547A>G-
NM_139343.3(BIN1):c.636C>T (p.Ala212=)274BIN1Likely benign201238412RCV000636915|RCV001423758; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278215711278215712:g.127821571G>AClinGen:CA1857395C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.630C>T (p.Ile210=)274BIN1Likely benign886038728RCV000241976|RCV000636921; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278215771278215772:g.127821577G>AClinGen:CA10586751C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.618G>A (p.Glu206=)274BIN1Likely benign-1RCV002785326; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821589127821589-
NM_139343.3(BIN1):c.615C>T (p.Ala205=)274BIN1Likely benign748308882RCV001442255; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821592127821592127821592-
NM_139343.3(BIN1):c.615C>G (p.Ala205=)274BIN1Likely benign748308882RCV001453792; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821592127821592127821592-
NM_139343.3(BIN1):c.613-5C>G274BIN1Likely benign1408065039RCV000555336; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821599127821599NC_000002.11:g.127821599G>CClinGen:CA535638772C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.613-9G>T274BIN1Likely benign1009608542RCV002106164; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821603127821603127821603-
NM_139343.3(BIN1):c.613-14G>A274BIN1Likely benign770168243RCV002208175; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127821608127821608127821608-
NC_000002.11:g.(?_127825719)_(127828412_?)dup274BIN1Uncertain significance-1RCV003123122; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825719127828412-
NM_139343.3(BIN1):c.612+18C>A274BIN1Likely benign572040801RCV002126633; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825721127825721127825721-
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter)274BIN1Uncertain significance762897872RCV001307711; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825747127825747127825747-
NM_139343.3(BIN1):c.603C>T (p.Leu201=)274BIN1Likely benign-1RCV002606146; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825748127825748-
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile)274BIN1Uncertain significance2105049284RCV002050616; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825755127825755127825755-
NM_139343.3(BIN1):c.582C>T (p.Leu194=)274BIN1Likely benign1319287534RCV002198397; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825769127825769127825769-
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)274BIN1Uncertain significance-1RCV003032975; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825777127825777NC_000002.11:g.127825777C>A-
NM_139343.3(BIN1):c.570G>T (p.Leu190=)274BIN1Likely benign767620839RCV001502341; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825781127825781127825781-
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu)274BIN1Uncertain significance777940512RCV001204669; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278258011278258012:g.127825801G>C-
NM_139343.3(BIN1):c.546C>T (p.Ala182=)274BIN1Likely benign147149003RCV002548424; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278258051278258052:g.127825805G>A-
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr)274BIN1Uncertain significance779607755RCV001342312; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825807127825807127825807-
NM_139343.3(BIN1):c.528G>T (p.Ser176=)274BIN1Likely benign-1RCV002971858; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825823127825823-
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu)274BIN1Uncertain significance776075897RCV001037966; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278258241278258242:g.127825824G>A-
NM_139343.3(BIN1):c.520-3C>A274BIN1Uncertain significance1455432609RCV002040700; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825834127825834127825834-
NM_139343.3(BIN1):c.520-6C>T274BIN1Likely benign367953762RCV001426018; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825837127825837127825837-
NM_139343.3(BIN1):c.520-8C>T274BIN1Likely benign769133774RCV002145491; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825839127825839127825839-
NM_139343.3(BIN1):c.520-9C>G274BIN1Likely benign1685399315RCV001317919; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825840127825840127825840-
NM_139343.3(BIN1):c.520-13C>T274BIN1Likely benign-1RCV002598152; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825844127825844NC_000002.11:g.127825844G>A-
NM_139343.3(BIN1):c.520-16G>T274BIN1Likely benign766300039RCV002108640; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127825847127825847127825847-
NM_139343.3(BIN1):c.519+15C>T274BIN1Likely benign-1RCV002667313; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826485127826485NC_000002.11:g.127826485G>A-
NM_139343.3(BIN1):c.519+6G>T274BIN1Uncertain significance-1RCV003108823; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826494127826494NC_000002.11:g.127826494C>A-
NM_139343.3(BIN1):c.519+4A>G274BIN1Uncertain significance1429919147RCV000697627; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826496127826496NC_000002.11:g.127826496T>C-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del)274BIN1Uncertain significance775374523RCV001893583; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826521127826523127826520-
NM_139343.3(BIN1):c.486T>C (p.Thr162=)274BIN1Benign/Likely benign1060743RCV000145343|RCV000349850; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265331278265332:g.127826533A>GClinGen:CA171401C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe)274BIN1Uncertain significance1685511003RCV001242608|RCV002564035; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C095012321278265411278265412:g.127826541G>A-
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys)274BIN1Uncertain significance764377144RCV000636907; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826547127826547NC_000002.11:g.127826547C>TClinGen:CA1857470C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.471C>T (p.Tyr157=)274BIN1Likely benign138885327RCV000606200|RCV000874522; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265481278265482:g.127826548G>AClinGen:CA1857471CN169374 not specified;
NM_139343.3(BIN1):c.469T>C (p.Tyr157His)274BIN1Uncertain significance1553466026RCV000545195|RCV001770423; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN5172022127826550127826550NC_000002.11:g.127826550A>GClinGen:CA348367773C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)274BIN1Conflicting interpretations of pathogenicity267606681RCV000008798; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265581278265582:g.127826558C>TOMIM:601248.0004,ClinGen:CA119462C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp)274BIN1Uncertain significance761914168RCV000811248; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265591278265592:g.127826559G>A-
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)274BIN1Pathogenic121909274RCV000008796; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265681278265682:g.127826568C>TClinGen:CA119459,UniProtKB:O00499#VAR_037426,OMIM:601248.0002C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.450C>T (p.Tyr150=)274BIN1Likely benign550177667RCV001475442|RCV003434261; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C36619002127826569127826569127826569-
NM_139343.3(BIN1):c.438G>A (p.Lys146=)274BIN1Likely benign760028920RCV001450668; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265811278265812:g.127826581C>T-
NM_139343.3(BIN1):c.434G>A (p.Arg145His)274BIN1Uncertain significance1219115067RCV001208067; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265851278265852:g.127826585C>T-
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)274BIN1Likely pathogenic1249621033RCV000754844; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826586127826586NC_000002.11:g.127826586G>AOMIM:601248.0006
NM_139343.3(BIN1):c.430_432del (p.Gly144del)274BIN1Uncertain significance1685516331RCV001229874; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278265871278265892:g.127826587_127826589del-
NM_139343.3(BIN1):c.432G>A (p.Gly144=)274BIN1Likely benign758913903RCV002123566; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826587127826587127826587-
NM_139343.3(BIN1):c.432G>T (p.Gly144=)274BIN1Likely benign-1RCV002717249; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826587127826587-
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg)274BIN1Uncertain significance1685516968RCV001314744; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826589127826589127826589-
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu)274BIN1Uncertain significance1407049344RCV001242127; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278266011278266012:g.127826601T>G-
NM_139343.3(BIN1):c.412-4C>T274BIN1Likely benign-1RCV003089389; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826611127826611NC_000002.11:g.127826611G>A-
NM_139343.3(BIN1):c.412-11G>C274BIN1Likely benign2105059266RCV002195801; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826618127826618127826618-
NM_139343.3(BIN1):c.412-15C>T274BIN1Likely benign-1RCV002600747; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127826622127826622NC_000002.11:g.127826622G>A-
NM_139343.3(BIN1):c.412-25T>C274BIN1Benign67327804RCV000837704|RCV001554067; NMedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278266321278266322:g.127826632A>G-
NM_139343.3(BIN1):c.411+15T>G274BIN1Likely benign-1RCV003036445; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827556127827556NC_000002.11:g.127827556A>C-
NM_139343.3(BIN1):c.411+5G>C274BIN1Uncertain significance-1RCV002604493; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827566127827566NC_000002.11:g.127827566C>G-
NM_139343.3(BIN1):c.411+1G>T274BIN1Uncertain significance-1RCV002846702; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827570127827570NC_000002.11:g.127827570C>A-
NM_139343.3(BIN1):c.405C>T (p.Asp135=)274BIN1Likely benign956631103RCV002540001; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278275771278275772:g.127827577G>A-
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)274BIN1Uncertain significance-1RCV002602175|RCV002617362; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MeSH:D030342,MedGen:C09501232127827579127827579NC_000002.11:g.127827579C>T-
NM_139343.3(BIN1):c.402C>T (p.Pro134=)274BIN1Likely benign144136512RCV000245446|RCV000877189|RCV001722355; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278275801278275802:g.127827580G>AClinGen:CA1857494CN169374 not specified;
NM_139343.3(BIN1):c.399C>T (p.Phe133=)274BIN1Likely benign755303195RCV002209498; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827583127827583127827583-
NM_139343.3(BIN1):c.393C>T (p.Gly131=)274BIN1Conflicting interpretations of pathogenicity1455926606RCV000695525|RCV003437399; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278275891278275892:g.127827589G>A-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.385T>C (p.Tyr129His)274BIN1Uncertain significance2105069995RCV002031138; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827597127827597127827597-
NM_139343.3(BIN1):c.384G>A (p.Thr128=)274BIN1Conflicting interpretations of pathogenicity61748158RCV000403883|RCV000610549; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN1693742127827598127827598NC_000002.11:g.127827598C>TClinGen:CA1857497C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs)274BIN1Uncertain significance761813363RCV000687106; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827598127827599NC_000002.11:g.127827599GT[3]-C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.376A>G (p.Met126Val)274BIN1Uncertain significance-1RCV003143794; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827606127827606NC_000002.11:g.127827606T>C-
NM_139343.3(BIN1):c.366G>A (p.Ala122=)274BIN1Likely benign-1RCV002766257; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827616127827616-
NM_139343.3(BIN1):c.345C>T (p.His115=)274BIN1Likely benign-1RCV002637779; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827637127827637-
NM_139343.3(BIN1):c.330G>A (p.Leu110=)274BIN1Uncertain significance746946704RCV000314987; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827652127827652NC_000002.11:g.127827652C>TClinGen:CA1857504C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.330G>C (p.Leu110=)274BIN1Likely benign746946704RCV002196927; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827652127827652127827652-
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln)274BIN1Uncertain significance2105070437RCV002018222; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827653127827653127827653-
NM_139343.3(BIN1):c.327G>A (p.Leu109=)274BIN1Likely benign920170949RCV001436786; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827655127827655127827655-
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn)274BIN1Uncertain significance532260569RCV001928983; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827660127827660127827660-
NM_139343.3(BIN1):c.321C>T (p.Asn107=)274BIN1Likely benign529323298RCV002175912; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827661127827661127827661-
NM_139343.3(BIN1):c.316-11G>T274BIN1Likely benign-1RCV002953346; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127827677127827677NC_000002.11:g.127827677C>A-
NM_139343.3(BIN1):c.316-19G>A274BIN1Benign/Likely benign369840788RCV000253636|RCV002058402; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278276851278276852:g.127827685C>TClinGen:CA1857508CN169374 not specified;
NM_139343.3(BIN1):c.315+7A>C274BIN1Likely benign1573647825RCV000982826; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281221278281222:g.127828122T>G-
NM_139343.3(BIN1):c.315+3G>C274BIN1Uncertain significance764821578RCV001202482; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281261278281262:g.127828126C>G-
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)274BIN1Uncertain significance-1RCV002745767; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828130127828131NC_000002.11:g.127828130_127828131delinsAA-
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys)274BIN1Uncertain significance1685745258RCV001215101; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281311278281312:g.127828131C>T-
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr)274BIN1Uncertain significance754932468RCV001369553; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828134127828134127828134-
NM_139343.3(BIN1):c.309C>T (p.Ile103=)274BIN1Likely benign151288388RCV001452849; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828135127828135127828135-
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser)274BIN1Uncertain significance769724273RCV000819262; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281581278281582:g.127828158C>T-
NM_139343.3(BIN1):c.285C>T (p.Pro95=)274BIN1Likely benign377467117RCV001405026; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281591278281592:g.127828159G>A-
NM_139343.3(BIN1):c.285C>A (p.Pro95=)274BIN1Likely benign377467117RCV000877502; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281591278281592:g.127828159G>T-
NM_139343.3(BIN1):c.279T>C (p.Asp93=)274BIN1Likely benign770994335RCV000542004; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828165127828165NC_000002.11:g.127828165A>GClinGen:CA1857529C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu)274BIN1Uncertain significance770994335RCV001238014|RCV001760256; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:CN51720221278281651278281652:g.127828165A>T-
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr)274BIN1Uncertain significance774273606RCV001315537; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828167127828167127828167-
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn)274BIN1Uncertain significance774273606RCV001327887; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828167127828167127828167-
NM_139343.3(BIN1):c.276C>T (p.Pro92=)274BIN1Likely benign1013293394RCV000876825; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278281681278281682:g.127828168G>A-
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter)274BIN1Uncertain significance2105075896RCV002015089; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828185127828185127828185-
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)274BIN1Uncertain significance-1RCV003143790; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828205127828205NC_000002.11:g.127828205T>C-
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe)274BIN1Uncertain significance1377099769RCV001966428; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828208127828208127828208-
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys)274BIN1Uncertain significance1685759135RCV001245547; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278282151278282152:g.127828215C>T-
NM_139343.3(BIN1):c.228C>T (p.His76=)274BIN1Likely benign754621895RCV002075367; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828216127828216127828216-
NM_139343.3(BIN1):c.224T>C (p.Met75Thr)274BIN1Uncertain significance1024658796RCV001350205; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828220127828220127828220-
NM_139343.3(BIN1):c.222C>T (p.Ala74=)274BIN1Likely benign2105076332RCV002091522; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828222127828222127828222-
NM_139343.3(BIN1):c.221-8C>T274BIN1Likely benign750040017RCV000636903; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278282311278282312:g.127828231G>AClinGen:CA1857536C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.220+15_220+21del274BIN1Likely benign-1RCV003022335; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828317127828323NC_000002.11:g.127828320_127828326del-
NM_139343.3(BIN1):c.220+19G>A274BIN1Likely benign775915004RCV002143557; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828319127828319127828319-
NM_139343.3(BIN1):c.220+18C>T274BIN1Likely benign761189061RCV002194360; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828320127828320127828320-
NM_139343.3(BIN1):c.220+4G>A274BIN1Uncertain significance-1RCV003112938; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828334127828334NC_000002.11:g.127828334C>T-
NM_139343.3(BIN1):c.213C>T (p.Ser71=)274BIN1Likely benign560078675RCV000636913; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828345127828345NC_000002.11:g.127828345G>AClinGen:CA1857556C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile)274BIN1Uncertain significance2105078067RCV001889098; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828365127828365127828365-
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln)274BIN1Uncertain significance1558835946RCV001872341; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828379127828379127828379-
NM_139343.3(BIN1):c.173G>T (p.Gly58Val)274BIN1Uncertain significance1282156307RCV000794378; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278283851278283852:g.127828385C>A-
NM_139343.3(BIN1):c.168G>A (p.Thr56=)274BIN1Uncertain significance528828320RCV001068838; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278283901278283902:g.127828390C>T-
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)274BIN1Uncertain significance-1RCV002587322|RCV002600183; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828391127828391NC_000002.11:g.127828391G>A-
NM_139343.3(BIN1):c.166-13C>T274BIN1Likely benign1182776886RCV002075805; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828405127828405127828405-
NM_139343.3(BIN1):c.166-16G>T274BIN1Likely benign-1RCV002885724; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127828408127828408NC_000002.11:g.127828408C>A-
NC_000002.11:g.(?_127834182)_(127864519_?)dup274BIN1Uncertain significance-1RCV003123121; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834182127864519-
NM_139343.3(BIN1):c.165+13G>A274BIN1Likely benign2105143217RCV002086160; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834189127834189127834189-
NM_139343.3(BIN1):c.165+6T>C274BIN1Uncertain significance763931802RCV001038656; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278341961278341962:g.127834196A>G-
NM_139343.3(BIN1):c.165+1G>A274BIN1Uncertain significance-1RCV002843121; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834201127834201NC_000002.11:g.127834201C>T-
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser)274BIN1Uncertain significance369549551RCV002009891; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834212127834212127834212-
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)274BIN1Uncertain significance-1RCV002647324; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834225127834225NC_000002.11:g.127834225C>T-
NM_139343.3(BIN1):c.141C>T (p.Cys47=)274BIN1Likely benign747090652RCV001464393; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834226127834226127834226-
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)274BIN1Pathogenic121909273RCV000008795; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278342621278342622:g.127834262C>AClinGen:CA119458,UniProtKB:O00499#VAR_037425,OMIM:601248.0001C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.85-5G>A274BIN1Uncertain significance371593265RCV000636906; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278342871278342872:g.127834287C>TClinGen:CA1857595C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.85-6C>T274BIN1Likely benign200855894RCV000636919; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834288127834288NC_000002.11:g.127834288G>AClinGen:CA1857596C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.85-14C>T274BIN1Likely benign1191884719RCV002113905; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834296127834296127834296-
NM_139343.3(BIN1):c.85-18C>G274BIN1Likely benign953081488RCV002102096; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127834300127834300127834300-
NM_139343.3(BIN1):c.84+4287G>T274BIN1Benign755639RCV002121095; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127860149127860149127860149-
NC_000002.11:g.(?_127864416)_(127864519_?)dup274BIN1Uncertain significance-1RCV001919175; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864416127864519-1-
NM_139343.3(BIN1):c.84+19dup274BIN1Likely benign751236360RCV002161396; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864416127864417127864416-
NM_139343.3(BIN1):c.84+16C>G274BIN1Likely benign-1RCV002595522; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864420127864420NC_000002.11:g.127864420G>C-
NM_139343.3(BIN1):c.84+14A>T274BIN1Uncertain significance2105378351RCV001979500; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864422127864422127864422-
NM_139343.3(BIN1):c.84+11C>T274BIN1Likely benign-1RCV002610001; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864425127864425NC_000002.11:g.127864425G>A-
NC_000002.12:g.(?_127106850)_(127106953_?)dup274BIN1Uncertain significance-1RCV001033904; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864426127864529-1-
NM_139343.3(BIN1):c.84+10C>A274BIN1Likely benign-1RCV002871252; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864426127864426NC_000002.11:g.127864426G>T-
NM_139343.3(BIN1):c.84+9G>A274BIN1Uncertain significance762680903RCV000334262; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864427127864427NC_000002.11:g.127864427C>TClinGen:CA1857621C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.84+6C>A274BIN1Uncertain significance-1RCV002900109; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864430127864430NC_000002.11:g.127864430G>T-
NM_139343.3(BIN1):c.84+1G>A274BIN1Uncertain significance1364583460RCV001373656; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864435127864435127864435-
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn)274BIN1Uncertain significance1681229622RCV001348078; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864436127864436127864436-
NM_139343.3(BIN1):c.72C>T (p.Arg24=)274BIN1Likely benign1681233008RCV001215969; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278644481278644482:g.127864448G>A-
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly)274BIN1Uncertain significance2105378684RCV001912322; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864450127864450127864450-
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)274BIN1Uncertain significance-1RCV002999532; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864459127864459NC_000002.11:g.127864459T>G-
NM_139343.3(BIN1):c.57G>C (p.Gln19His)274BIN1Uncertain significance142657993RCV001986782; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864463127864463127864463-
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu)274BIN1Uncertain significance2105378861RCV002007731; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864465127864465127864465-
NM_139343.3(BIN1):c.52G>A (p.Val18Met)274BIN1Uncertain significance566597765RCV001071070|RCV001760053; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278644681278644682:g.127864468C>T-
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys)274BIN1Uncertain significance2105378914RCV001895160; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864469127864469127864469-
NM_139343.3(BIN1):c.30G>A (p.Thr10=)274BIN1Conflicting interpretations of pathogenicity35535012RCV000145342|RCV000724179; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278644901278644902:g.127864490C>TClinGen:CA171399C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys)274BIN1Uncertain significance1681237812RCV001327643; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864491127864491127864491-
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)274BIN1Uncertain significance-1RCV002700241; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864491127864491NC_000002.11:g.127864491G>A-
NM_139343.3(BIN1):c.27G>A (p.Val9=)274BIN1Likely benign-1RCV003055064; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864493127864493-
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp)274BIN1Uncertain significance558639756RCV000559491; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864511127864511NC_000002.11:g.127864511C>GClinGen:CA1857627C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)274BIN1Uncertain significance-1RCV002810413; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864515127864515NC_000002.11:g.127864515G>A-
NM_139343.3(BIN1):c.-27C>T274BIN1Benign11554586RCV000252497|RCV000299689; NMedGen:CN169374|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278645461278645462:g.127864546G>AClinGen:CA1857630C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.-62G>A274BIN1Uncertain significance886054836RCV000356829; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864581127864581NC_000002.11:g.127864581C>TClinGen:CA10610724C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.-105G>T274BIN1Uncertain significance575072529RCV001136348; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278646241278646242:g.127864624C>A-
NM_139343.3(BIN1):c.-105G>C274BIN1Uncertain significance575072529RCV001136349; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278646241278646242:g.127864624C>G-
NM_139343.3(BIN1):c.-114del274BIN1Uncertain significance886054837RCV000264305; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864633127864633NC_000002.11:g.127864634delClinGen:CA10612174C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.-146C>G274BIN1Uncertain significance1462553382RCV001136350; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:16918621278646651278646652:g.127864665G>C-
NM_139343.3(BIN1):c.-163T>C274BIN1Uncertain significance560690864RCV000303136; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864682127864682NC_000002.11:g.127864682A>GClinGen:CA10610725C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.-177_-174dup274BIN1Uncertain significance886054838RCV000360110; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864692127864693NC_000002.11:g.127864696_127864699dupClinGen:CA10612175C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.-192G>A274BIN1Uncertain significance886054839RCV000267839; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864711127864711NC_000002.11:g.127864711C>TClinGen:CA10612185C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.3(BIN1):c.-197C>A274BIN1Uncertain significance886054840RCV000325664; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864716127864716NC_000002.11:g.127864716G>TClinGen:CA10610727C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.2(BIN1):c.-214T>G274BIN1Uncertain significance886054841RCV000382584; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864733127864733NC_000002.11:g.127864733A>CClinGen:CA10612188C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.2(BIN1):c.-272G>A274BIN1Uncertain significance886054842RCV000271831; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864791127864791NC_000002.11:g.127864791C>TClinGen:CA10612069C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.2(BIN1):c.-314G>C274BIN1Uncertain significance531361957RCV000329240; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864833127864833NC_000002.11:g.127864833C>GClinGen:CA10612076C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.2(BIN1):c.-366C>A274BIN1Uncertain significance886054843RCV000385865; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:1691862127864885127864885NC_000002.11:g.127864885G>TClinGen:CA10610729C0410204 255200 Autosomal recessive centronuclear myopathy;
NM_139343.2(BIN1):c.-389T>A274BIN1Benign/Likely benign56827597RCV000336665|RCV001618681; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MedGen:C366190021278649081278649082:g.127864908A>TClinGen:CA10654605C0410204 255200 Autosomal recessive centronuclear myopathy;
NC_000002.11:g.(?_127806102)_(128432598_?)del-1BIN1;CYP27C1;ERCC3;GPR17;IWS1;LIMS2;MAP3K2;MYO7B;PUncertain significance-1RCV001916346|RCV001928002; NMONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:4668012127806102128432598-1-
NM_001267550.2(TTN):c.34930+2T>C7273TTNUncertain significance749252830RCV000597258|RCV001050674|RCV001535718; NMedGen:CN517202|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,21795371321795371322:g.179537132A>GClinGen:CA1997937C1858763 604145 Dilated cardiomyopathy 1G;
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